CEP128

Summary

CEP128 (centrosomal protein 128, HGNC:20359) is a protein-coding gene on chromosome 14q31.1, encoding Centrosomal protein 128 (Q6ZU80). Is involved in the negative regulation of ciliogenesis and plays a role in spermatogenesis.

Involved in several processes, including negative regulation of cilium assembly; positive regulation of protein localization; and regulation of transforming growth factor beta receptor signaling pathway. Acts upstream of or within regulation of gene expression and sperm flagellum assembly. Located in microtubule cytoskeleton and sperm head-tail coupling apparatus. Part of centriolar subdistal appendage.

Source: NCBI Gene 145508 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 231 total — 3 pathogenic, 3 likely-pathogenic
• GTEx eGene: eQTL in 25 tissues, sQTL in 3 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.96 (unconstrained)
• MANE Select transcript: NM_152446
• Notable: 231 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20359
Approved symbol	CEP128
Name	centrosomal protein 128
Location	14q31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000100629
Ensembl biotype	protein_coding
OMIM	620667
Entrez	145508

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 20 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

MANE Select: ENST00000555265

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 5, TSL 2: 4, TSL 3: 1, TSL 4: 3, TSL 5: 3

ENST00000555265, ENST00000216517, ENST00000281129, ENST00000553717, ENST00000554298, ENST00000554368, ENST00000554502, ENST00000554728, ENST00000554827, ENST00000555529, ENST00000556042, ENST00000556061, ENST00000556800, ENST00000556981, ENST00000557377, ENST00000557411, ENST00000907054, ENST00000933391, ENST00000933392, ENST00000933393, ENST00000933394, ENST00000933395, ENST00000947694, ENST00001081208, ENST00001116088, ENST00001139429

RefSeq mRNA: 1 — MANE Select: NM_152446 NM_152446

CCDS: CCDS32130

Canonical transcript exons

ENST00000555265 — 25 exons

Exon	Start	End
ENSE00000659433	80530809	80530886
ENSE00001135697	80559279	80559302
ENSE00001432887	80939385	80939540
ENSE00001653087	80862757	80862873
ENSE00001660148	80761437	80761613
ENSE00001670529	80838204	80838278
ENSE00001671034	80905955	80906081
ENSE00001692687	80756892	80756951
ENSE00001694262	80743075	80743267
ENSE00001704494	80792760	80793110
ENSE00001707239	80777882	80778046
ENSE00001713256	80840682	80840768
ENSE00001715118	80831143	80831294
ENSE00001724444	80899938	80900029
ENSE00001725949	80895718	80895790
ENSE00001754412	80580374	80580423
ENSE00001793773	80784895	80785545
ENSE00001797543	80904813	80904931
ENSE00001799717	80836205	80836337
ENSE00002507782	80941581	80941738
ENSE00002510495	80496479	80497582
ENSE00003470686	80526869	80526982
ENSE00003504666	80914322	80914408
ENSE00003508511	80916401	80916562
ENSE00003688644	80504912	80505020

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 91.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7894 / max 150.3499, expressed in 1399 samples.

Highest expression (Bgee): bone marrow cell, thymus, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, sural nerve.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CEP128 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 25 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 28 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	5.0e-16	+0.26	14:80863637:T:G
Skin Not Sun Exposed Suprapubic	eqtl	4.9e-14	-0.27	14:80555985:T:C
Skin Sun Exposed Lower leg	eqtl	2.3e-10	-0.22	14:80554660:T:C
Testis	sqtl	3.0e-10	-0.53	14:80601872:GCA:G
Esophagus Mucosa	eqtl	7.9e-10	+0.19	14:80943658:T:G
Cells Cultured fibroblasts	eqtl	8.9e-10	+0.14	14:80943658:T:G
Nerve Tibial	eqtl	8.0e-09	-0.24	14:80551833:C:T
Lung	eqtl	2.1e-08	-0.21	14:80569102:T:C
Brain Cerebellar Hemisphere	eqtl	1.7e-07	-0.51	14:80641003:A:G
Brain Cerebellum	eqtl	4.4e-06	-0.43	14:80863637:T:G
Whole Blood	eqtl	6.9e-05	-0.13	14:80977024:T:C
Brain Spinal cord cervical c-1	eqtl	2.7e-04	-0.41	14:80549733:C:T
Adipose Visceral Omentum	eqtl	1.0e-03	-0.65	14:80746919:A:G
Artery Aorta	eqtl	1.3e-03	-0.40	14:81225854:C:T
Spleen	eqtl	1.6e-03	-0.21	14:80997192:G:C
Muscle Skeletal	eqtl	1.6e-03	-0.25	14:80475461:A:C
Pituitary	eqtl	3.0e-03	-0.23	14:80554660:T:C
Brain Frontal Cortex BA9	eqtl	4.4e-03	-0.57	14:80616543:AATT:A
Brain Cortex	eqtl	5.6e-03	-0.33	14:80601872:GCA:G
Brain Nucleus accumbens basal ganglia	eqtl	6.3e-03	-0.27	14:80590410:G:T

FANTOM5 promoters

8 alternative TSS:

Promoter ID	TPM avg	Samples expressed
144285	4.1353	1245
144284	1.1813	592
144286	0.8821	513
144287	0.2677	58
144283	0.1347	38
144288	0.1115	41
144289	0.0406	16
144290	0.0361	10

Top tissues by expression

showing 100 of 238 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	91.34	gold quality
thymus	UBERON:0002370	90.58	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.24	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.15	gold quality
sural nerve	UBERON:0015488	84.94	gold quality
ventricular zone	UBERON:0003053	83.85	gold quality
calcaneal tendon	UBERON:0003701	83.60	gold quality
left lobe of thyroid gland	UBERON:0001120	83.37	gold quality
right lobe of thyroid gland	UBERON:0001119	82.93	gold quality
thyroid gland	UBERON:0002046	82.37	gold quality
ganglionic eminence	UBERON:0004023	79.40	gold quality
colonic epithelium	UBERON:0000397	79.24	gold quality
buccal mucosa cell	CL:0002336	78.46	silver quality
endothelial cell	CL:0000115	78.25	gold quality
right uterine tube	UBERON:0001302	76.66	gold quality
bone marrow	UBERON:0002371	75.26	gold quality
tonsil	UBERON:0002372	75.08	gold quality
tendon	UBERON:0000043	74.56	gold quality
vermiform appendix	UBERON:0001154	73.49	gold quality
cortical plate	UBERON:0005343	73.42	gold quality
bronchial epithelial cell	CL:0002328	73.18	gold quality
stromal cell of endometrium	CL:0002255	72.68	gold quality
lymph node	UBERON:0000029	72.34	gold quality
bronchus	UBERON:0002185	71.71	gold quality
skin of abdomen	UBERON:0001416	71.69	gold quality
spleen	UBERON:0002106	70.86	gold quality
leukocyte	CL:0000738	70.65	gold quality
skin of leg	UBERON:0001511	70.60	gold quality
monocyte	CL:0000576	70.37	gold quality
smooth muscle tissue	UBERON:0001135	70.34	gold quality
muscle of leg	UBERON:0001383	70.10	gold quality
gastrocnemius	UBERON:0001388	70.10	gold quality
rectum	UBERON:0001052	70.01	gold quality
endocervix	UBERON:0000458	69.75	gold quality
adrenal tissue	UBERON:0018303	69.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	69.59	gold quality
tibial nerve	UBERON:0001323	69.54	gold quality
body of uterus	UBERON:0009853	69.48	gold quality
left ovary	UBERON:0002119	69.29	gold quality
oviduct epithelium	UBERON:0004804	69.11	gold quality
zone of skin	UBERON:0000014	69.06	gold quality
testis	UBERON:0000473	68.96	gold quality
corpus callosum	UBERON:0002336	68.81	gold quality
minor salivary gland	UBERON:0001830	68.80	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	68.69	gold quality
left testis	UBERON:0004533	68.51	gold quality
left uterine tube	UBERON:0001303	68.46	gold quality
omental fat pad	UBERON:0010414	68.17	gold quality
peritoneum	UBERON:0002358	68.15	gold quality
right ovary	UBERON:0002118	68.06	gold quality
vagina	UBERON:0000996	67.77	gold quality
esophagus mucosa	UBERON:0002469	67.76	gold quality
islet of Langerhans	UBERON:0000006	67.74	gold quality
fallopian tube	UBERON:0003889	67.66	gold quality
secondary oocyte	CL:0000655	67.65	gold quality
esophagus	UBERON:0001043	67.53	gold quality
ectocervix	UBERON:0012249	67.52	gold quality
adipose tissue of abdominal region	UBERON:0007808	67.43	gold quality
muscle layer of sigmoid colon	UBERON:0035805	67.36	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	67.35	gold quality
lower esophagus	UBERON:0013473	67.05	gold quality
lower esophagus muscularis layer	UBERON:0035833	67.04	gold quality
uterine cervix	UBERON:0000002	67.02	gold quality
ovary	UBERON:0000992	66.97	gold quality
right testis	UBERON:0004534	66.97	gold quality
mucosa of transverse colon	UBERON:0004991	66.78	gold quality
blood	UBERON:0000178	66.77	gold quality
granulocyte	CL:0000094	66.73	gold quality
popliteal artery	UBERON:0002250	66.63	gold quality
tibial artery	UBERON:0007610	66.62	gold quality
mouth mucosa	UBERON:0003729	66.47	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	66.42	gold quality
caecum	UBERON:0001153	66.33	gold quality
upper lobe of left lung	UBERON:0008952	66.09	gold quality
left coronary artery	UBERON:0001626	65.77	gold quality
lower esophagus mucosa	UBERON:0035834	65.76	gold quality
subcutaneous adipose tissue	UBERON:0002190	65.75	gold quality
urinary bladder	UBERON:0001255	65.74	gold quality
aorta	UBERON:0000947	65.72	gold quality
adenohypophysis	UBERON:0002196	65.54	gold quality
gall bladder	UBERON:0002110	65.50	gold quality
saliva-secreting gland	UBERON:0001044	65.44	gold quality
upper lobe of lung	UBERON:0008948	65.43	gold quality
ascending aorta	UBERON:0001496	65.10	gold quality
pituitary gland	UBERON:0000007	65.05	gold quality
right atrium auricular region	UBERON:0006631	65.01	gold quality
right lung	UBERON:0002167	64.95	gold quality
spinal cord	UBERON:0002240	64.91	gold quality
thoracic aorta	UBERON:0001515	64.86	gold quality
anatomical system	UBERON:0000467	64.82	gold quality
stomach	UBERON:0000945	64.81	gold quality
cerebellar cortex	UBERON:0002129	64.74	gold quality
multicellular organism	UBERON:0000468	64.66	gold quality
cerebellar hemisphere	UBERON:0002245	64.66	gold quality
material anatomical entity	UBERON:0000465	64.64	gold quality
transverse colon	UBERON:0001157	64.60	gold quality
right coronary artery	UBERON:0001625	64.48	gold quality
cardiac atrium	UBERON:0002081	64.38	gold quality
female reproductive system	UBERON:0000474	64.35	gold quality
mucosa of stomach	UBERON:0001199	64.31	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.58

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Thymus	tissue	23.1
Corpus callosum	tissue	16.5
Nucleus accumbens	tissue	11.7
Choroid plexus	tissue	8.4
Putamen	tissue	8.1
Spinal cord	tissue	8.1
Periaqueductal gray	tissue	8.1
Olfactory bulb	tissue	8.1
Substantia nigra	tissue	8.0
Hippocampus	tissue	7.5	medium
Hippocampal formation	tissue	7.3
Cerebellum	tissue	7.0	medium
Medulla oblongata	tissue	6.7
Midbrain	tissue	6.6
Ventral forebrain	tissue	6.6
Pons	tissue	6.4
Locus coeruleus	tissue	6.4
Postcentral gyrus	tissue	6.4
Septum	tissue	6.4
Bone marrow	tissue	5.8	low
Amygdala	tissue	5.7
Thalamus	tissue	5.7
Hypothalamus	tissue	5.7
Superior colliculi	tissue	5.4
Basal ganglia	tissue	5.3	medium
Testis	tissue	4.8	medium
Tonsil	tissue	4.8	medium
Lymph node	tissue	4.4	low
Cerebral cortex	tissue	4.1	medium
Motor cortex	tissue	4.1
Retrosplenial cortex	tissue	4.1
Insular cortex	tissue	4.1
Temporal cortex	tissue	4.0
Prefrontal cortex	tissue	3.8
Retrosplenial and cingulate cortex	tissue	3.8
Occipital cortex	tissue	3.7
Breast	tissue	3.6	medium
Entorhinal cortex	tissue	3.6
Somatosensory cortex	tissue	3.5
Fallopian tube	tissue	2.3	medium
Caudate putamen	tissue	2.3
Appendix	tissue	2.3	medium
Skin 1	tissue	2.2	medium
Spleen	tissue	2.2	not detected
Urinary bladder	tissue	2.1	medium
Adipose tissue	tissue	1.9	low
Endometrium 1	tissue	1.9	medium
Smooth muscle	tissue	1.8	low
Colon	tissue	1.8	medium
Skeletal muscle	tissue	1.7	low
Stomach 1	tissue	1.6	medium
Esophagus	tissue	1.6	medium
Salivary gland	tissue	1.6	medium
Rectum	tissue	1.6	medium
Parathyroid gland	tissue	1.6	medium
Retina	tissue	1.5
Thyroid gland	tissue	1.5	medium
Lung	tissue	1.4	medium
Duodenum	tissue	1.4	medium
Ovary	tissue	1.3	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — White matter (16.5), Flocculonodular lobe (15.0), Vermis (14.8), Cerebellar cortex (14.6), Corpus callosum, genu (white matter) (12.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CEP128 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 78 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-6516-3P	99.65	68.57	1238

Functional genomics

gnomAD constraint: pLI 3.8e-18, LOEUF 0.957, missense Z 0.572 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000555265 — one region, missense o/e 0.98.

Literature-anchored findings (GeneRIF, showing 5)

• CEP128 loss affects TGF-beta1-induced phosphorylation of multiple proteins that regulate cilium-associated vesicle trafficking. (PMID:29514088)
• This study highlight the crucial role of CEP128 in the pathogenesis of Grave’s disease. (PMID:30393005)
• Cep128 deletion decreased the stability of centriolar microtubules. Cep128 associates with Odf2. (PMID:30623524)
• Downregulation of Circ-CEP128 Enhances the Paclitaxel Sensitivity of Cervical Cancer Through Regulating miR-432-5p/MCL1. (PMID:35391656)
• Modulation Effects of the CEP128 Gene on Radiotherapy-Related Brain Injury: A Longitudinal Structural Study Using Multi-Parametric Brain MR Images. (PMID:37249021)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cep128	ENSMUSG00000061533
rattus_norvegicus	Cep128	ENSRNOG00000003908

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1922466) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 18 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal spermatogenesis	1
decreased locomotor activity	1
decreased startle reflex	1
male infertility	1
asthenozoospermia	1
oligozoospermia	1
abnormal auditory brainstem response	1
improved glucose tolerance	1
reproductive system phenotype	1
teratozoospermia	1
abnormal sperm flagellum morphology	1
decreased prepulse inhibition	1
hairpin sperm flagellum	1
decreased fertilization frequency	1
abnormal sperm axoneme morphology	1
decreased total body fat amount	1
decreased grip strength	1
decreased sperm progressive motility	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Danio rerio	A4QNW2	31.0%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
DIO2-AS1	ncRNA	100628307
TSHR-AS1	ncRNA	101928462
DIO2	protein-coding	1734
TSHR	protein-coding	7253
GTF2A1	protein-coding	2957
SNORA79	snoRNA	677845

Protein

Protein identifiers

Centrosomal protein 128 — Q6ZU80 (reviewed: Q6ZU80)

Alternative names: Centrosomal protein of 128 kDa

All UniProt accessions (9): Q6ZU80, G3V3F4, G3V3U2, G3V4J9, H0YIZ9, H0YJD7, H0YJE3, H0YJH2, Q86TS1

UniProt curated annotations — full annotation on UniProt →

Function. Is involved in the negative regulation of ciliogenesis and plays a role in spermatogenesis. Contributes to the regulation of the TGFB/BMP signaling pathway at the primary cilium, where it is required for ciliary localization of RAB11A, likely affecting the trafficking and regulation of TGFB/BMP pathway components. Required, together with ODF2, for the formation of the subdistal appendage of the centriole.

Subunit / interactions. Interacts with ODF2; the interaction is required for the formation of the subdistal appendage of the centriole.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body. Spindle pole.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6ZU80-2	2	yes
Q6ZU80-1	1
Q6ZU80-3	3

RefSeq proteins (1): NP_689659* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026652	CEP128	Family

Pfam: PF28367

UniProt features (26 total): region of interest 5, modified residue 5, compositionally biased region 4, splice variant 4, sequence variant 3, sequence conflict 2, coiled-coil region 2, chain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZU80-F1	74.92	0.26

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): centrosome

Antibody reliability (HPA): IH uncertain · IF supported

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5)

Type	Positions
Phosphoserine	31, 249, 291, 331, 1061

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 147 (showing top): AAGCAAT_MIR137, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOCC_CENTROSOME, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOCC_SPINDLE, chr14q31

GO Biological Process (7): intracellular protein localization (GO:0008104), regulation of gene expression (GO:0010468), regulation of transforming growth factor beta receptor signaling pathway (GO:0017015), motile cilium assembly (GO:0044458), sperm flagellum assembly (GO:0120316), negative regulation of cilium assembly (GO:1902018), positive regulation of protein localization (GO:1903829)

GO Cellular Component (6): spindle pole (GO:0000922), centrosome (GO:0005813), centriole (GO:0005814), ciliary basal body (GO:0036064), centriolar subdistal appendage (GO:0120103), sperm head-tail coupling apparatus (GO:0120212)

GO top-level categories

24 GO namespaces:

Category	Terms
microtubule organizing center	3
cilium assembly	2
cellular anatomical structure	2
cilium	2
macromolecule localization	1
gene expression	1
regulation of macromolecule biosynthetic process	1
transforming growth factor beta receptor signaling pathway	1
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
regulation of cellular response to transforming growth factor beta stimulus	1
developmental process involved in reproduction	1
spermatid development	1
flagellated sperm motility	1
motile cilium assembly	1
negative regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
negative regulation of organelle assembly	1
intracellular protein localization	1
regulation of protein localization	1
positive regulation of biological process	1
spindle	1
centriole	1
intracellular membraneless organelle	1
intracellular protein-containing complex	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 13 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

13 experimentally-supported GO terms:

GO term	NS	Evidence
intracellular protein localization	BP	mutant phenotype
motile cilium assembly	BP	mutant phenotype
negative regulation of cilium assembly	BP	mutant phenotype
positive regulation of protein localization	BP	mutant phenotype
regulation of gene expression	BP	mutant phenotype
regulation of transforming growth factor beta receptor signaling pathway	BP	mutant phenotype
sperm flagellum assembly	BP	mutant phenotype
centriolar subdistal appendage	CC	direct assay
centriole	CC	direct assay
centrosome	CC	direct assay
ciliary basal body	CC	direct assay
sperm head-tail coupling apparatus	CC	direct assay
spindle pole	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 896 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP128	CCDC120	Q96HB5	716
CEP128	SCLT1	Q96NL6	714
CEP128	CEP170	Q5SW79	713
CEP128	NIN	Q8N4C6	688
CEP128	CEP89	Q96ST8	681
CEP128	CNTRL	Q7Z7A1	655
CEP128	CEP83	Q9Y592	642
CEP128	CCDC68	Q9H2F9	634
CEP128	FBF1	Q8TES7	609
CEP128	STON2	Q8WXE9	594
CEP128	CEP19	Q96LK0	593
CEP128	CEP164	Q9UPV0	569
CEP128	CEP350	Q5VT06	557
CEP128	CEP78	Q5JTW2	550
CEP128	CEP131	Q9UPN4	529

IntAct

Human interaction partners of CEP128 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

3 partners by confidence:

Partner	Interaction type	MIscore	Records
PCM1	association	0.420	1
VIM	physical association	0.400	1
CCDC66	proximity	0.270	2

BioGRID (335 interactions; top human partners by supporting records): CEP135 (Affinity Capture-Western; 4 records), TSNAX (Affinity Capture-MS; 4 records), CEP63 (Proximity Label-MS; 3 records), CNTRL (Proximity Label-MS; 3 records), FAM212B (Affinity Capture-MS; 3 records), NIN (Proximity Label-MS; 3 records), ODF2 (Proximity Label-MS; 3 records), PCM1 (Affinity Capture-Western; 3 records), AURKA (Proximity Label-MS; 2 records), CEP152 (Proximity Label-MS; 2 records), CEP162 (Affinity Capture-Western; 2 records), KIAA0753 (Affinity Capture-Western; 2 records), NINL (Proximity Label-MS; 2 records), OFD1 (Proximity Label-MS; 2 records), RPL23A (Cross-Linking-MS (XL-MS); 2 records)

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
Centriolar subdistal appendage	7	CNTRL, DCTN1, KIF2A, NIN, ODF2, CEP128, CEP170

Disease & clinical

Genetic variants

Variant evidence for CEP128: 231 ClinVar records (6 pathogenic / likely pathogenic); 5 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

231 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	3
Uncertain significance	169
Likely benign	29
Benign	4

Top pathogenic / likely-pathogenic (6)

Showing all 6 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
2901036	NM_000369.5(TSHR):c.87C>A (p.Cys29Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
2696574	NM_000369.5(TSHR):c.69del (p.Cys24fs)	Pathogenic	criteria provided, single submitter	1
2770278	NM_000369.5(TSHR):c.22C>T (p.Gln8Ter)	Pathogenic	criteria provided, single submitter	1
4055803	NM_000369.5(TSHR):c.3G>A (p.Met1Ile)	Likely pathogenic	criteria provided, single submitter	1
4086209	NM_000369.5(TSHR):c.96del (p.Gln33fs)	Likely pathogenic	criteria provided, single submitter	1
3063337	GRCh37/hg19 14q31.1-31.3(chr14:79782316-86358101)x3	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CEP128’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 3,392):

Position(s)	Effect	Δscore	Sites
14:80504910–80504911	donor_loss	1.0000	5
14:80568953	donor_gain	1.0000
14:80580424–80580425	acceptor_loss	1.0000	6
14:80756890–80756891	donor_loss	1.0000	5
14:80756952–80756953	acceptor_loss	1.0000	4
14:80761435–80761436	donor_loss	1.0000	6
14:80761494	donor_gain	1.0000
14:80761614–80761615	acceptor_loss	1.0000	5
14:80761621–80761622	acceptor_gain	1.0000	3
14:80777873	donor_gain	1.0000

AlphaMissense

740 missense substitutions predicted likely pathogenic (of 7,229 scored), across 341 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
W876	7	0.941	0.992
W866	7	0.925	0.980
D862	7	0.798	0.911
C839	7	0.770	0.938
E880	7	0.756	0.812
H864	7	0.751	0.906
E869	7	0.682	0.791
K873	6	0.912	0.978
W493	6	0.894	0.976
K871	6	0.889	0.985
V220	6	0.820	0.892
K494	6	0.817	0.944
E689	6	0.774	0.867
E834	6	0.766	0.824
D59	6	0.746	0.847
D170	6	0.731	0.766
E823	6	0.730	0.885
E696	6	0.659	0.714
R189	5	0.843	0.929
A868	5	0.841	0.978

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Rectum Adenocarcinoma (validation)	favorable	0.000774
Pancreatic Adenocarcinoma (validation)	unfavorable	0.000889

Disease associations

OMIM: gene MIM:620667 | disease phenotypes: MIM:275200

GenCC curated gene-disease

Mondo (1): hypothyroidism due to TSH receptor mutations (MONDO:0010142)

Orphanet (1): Hypothyroidism due to TSH receptor mutations (Orphanet:90673)

GWAS associations

5 associations:

Study	Trait	p-value
GCST010653_52	Thyroid stimulating hormone levels	9e-17
GCST007200_1	Radiation-induced brain injury in nasopharyngeal carcinoma	6e-9
GCST003124_8	Mild influenza (H1N1) infection	3e-8
GCST007200_2	Radiation-induced brain injury in nasopharyngeal carcinoma	3e-7
GCST003264_488	Post bronchodilator FEV1/FVC ratio	3e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0004713	FEV/FVC ratio
EFO:0009704	radiation-induced brain injury

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

56 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression, increases methylation	3
Benzo(a)pyrene	decreases expression	3
sodium arsenite	increases abundance, increases expression	2
Resveratrol	affects cotreatment, increases expression	2
Acetaminophen	increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, increases expression	2
Valproic Acid	decreases expression, increases expression	2
Aflatoxin B1	increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases methylation	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
incobotulinumtoxinA	decreases expression	1
Dasatinib	decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 300 trials:

NCT	Phase	Status	Title
NCT00004637	Phase 4	COMPLETED	Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy
NCT00043914	Phase 4	COMPLETED	Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy
NCT00132223	Phase 4	UNKNOWN	Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients
NCT00133081	Phase 4	UNKNOWN	Study to Improve the Treatment of Epilepsy (SITE)
NCT00137709	Phase 4	UNKNOWN	Hormone Profiles in Adults With Newly Diagnosed Epilepsy
NCT00154076	Phase 4	COMPLETED	A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies
NCT00165828	Phase 4	TERMINATED	Efficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization
NCT00181116	Phase 4	COMPLETED	Levetiracetam for Benign Rolandic Epilepsy
NCT00207935	Phase 4	COMPLETED	Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population
NCT00215592	Phase 4	COMPLETED	Open Label, Zonegran (Zonisamide) In Partial Onset Seizures
NCT00266604	Phase 4	COMPLETED	A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy
NCT00288639	Phase 4	COMPLETED	Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER).
NCT00312676	Phase 4	UNKNOWN	Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote
NCT00323947	Phase 4	COMPLETED	Methylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy
NCT00385411	Phase 4	COMPLETED	Study of Valproate in Young Patients Suffering From Epilepsy
NCT00522418	Phase 4	TERMINATED	Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients
NCT00537940	Phase 4	COMPLETED	Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures
NCT00552526	Phase 4	UNKNOWN	Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy
NCT00564915	Phase 4	COMPLETED	RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy
NCT00571155	Phase 4	COMPLETED	Trial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery
NCT00572195	Phase 4	COMPLETED	RNS® System LTT Study
NCT00610532	Phase 4	TERMINATED	Evaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy
NCT00630357	Phase 4	COMPLETED	Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy
NCT00630630	Phase 4	COMPLETED	Study on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy
NCT00630968	Phase 4	COMPLETED	S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00631150	Phase 4	COMPLETED	A Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00659958	Phase 4	COMPLETED	ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs
NCT00713622	Phase 4	COMPLETED	Comparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate
NCT00807989	Phase 4	COMPLETED	The Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy
NCT00832884	Phase 4	COMPLETED	The Safety of Intravenous Lacosamide
NCT00869622	Phase 4	COMPLETED	Antiepileptic Drugs and Osteoporotic Prevention Trial
NCT00896987	Phase 4	COMPLETED	Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies
NCT00952081	Phase 4	COMPLETED	A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients
NCT01118455	Phase 4	TERMINATED	Trial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures
NCT01127165	Phase 4	COMPLETED	Low and High Dose Zonisamide in Children as Monotherapy
NCT01127256	Phase 4	COMPLETED	Comparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation
NCT01140867	Phase 4	COMPLETED	Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy
NCT01175954	Phase 4	COMPLETED	Cognitive and Behavioral Effects of Lacosamide
NCT01229735	Phase 4	COMPLETED	Levetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures
NCT01244724	Phase 4	TERMINATED	Lexapro for Major Depression in Patients With Epilepsy
NCT01309074	Phase 4	WITHDRAWN	Does Pregabalin Improve Symptoms of Anxiety in Patients With Epilepsy? A Comparison With Sertraline
NCT01318408	Phase 4	COMPLETED	Levetiracetam: The Anti-Convulsant of Choice for Elderly Patients With Dementia
NCT01498822	Phase 4	COMPLETED	Levetiracetam Versus Oxcarbazepine as Monotherapy to Evaluate Efficacy and Safety in Subjects With Newly or Recently Diagnosed Partial Epilepsy
NCT01546688	Phase 4	TERMINATED	A Study to Evaluate the Safety and Tolerability and Explore the Efficacy of Zonisamide as add-on Therapy in Elderly Patients With Refractory Partial Seizures
NCT01607346	Phase 4	TERMINATED	An Open Label Study to Evaluate the Effects of Ezogabine/Retigabine Added to Existing Anti-epileptic Drug(s) on Urinary Voiding Function in Subjects With Partial Onset Seizures
NCT01627860	Phase 4	COMPLETED	First Add-on vs. Mono-therapy Study of Topiramate in Neuro-Surgical Patients
NCT01689649	Phase 4	COMPLETED	A Study to Assess Tolerability and Efficacy of Topiramate Monotherapy in Recently Diagnosed Patients With Epilepsy
NCT01713777	Phase 4	COMPLETED	Equivalence Among Antiepileptic Drug Generic and Brand Products in People With Epilepsy: Chronic-Dose 4-Period Replicate Design
NCT01733394	Phase 4	COMPLETED	Equivalence Among Antiepileptic Drug Generic and Brand Products in People With Epilepsy: Single-Dose 6-Period Replicate Design (EQUIGEN Single-Dose Study)
NCT01804322	Phase 4	COMPLETED	Standardized Educational Plan for Epilepsy Patients With Comorbidities
NCT01932502	Phase 4	UNKNOWN	Evaluation of Onfi Conversion Therapy Replacing Clonazepam in Patients With Medically Refractory Epilepsy
NCT01995825	Phase 4	COMPLETED	Lamotrigine Bioequivalence
NCT02100644	Phase 4	COMPLETED	Valproate Dose Reduction and Its Clinical Evaluation by Introducing Lamotrigine in Japanese Women With Epilepsy - Single Arm, Multicenter, and Open-label Study
NCT02178995	Phase 4	COMPLETED	Methylphenidate Treatment of Attention Deficits in Epilepsy
NCT02205931	Phase 4	UNKNOWN	Ketogenic Diet in Infants With Epilepsy (KIWE)
NCT02362373	Phase 4	COMPLETED	Women With Epilepsy: a Pilot Study of PK and PD Anti-epileptic Drug Effects in Levonorgestrel Intrauterine System Users
NCT02404168	Phase 4	COMPLETED	BEEP Follow Up: Evaluation of Repeatability of Lamotrigine Pharmacokinetics in Epileptic Patients
NCT02429596	Phase 4	UNKNOWN	A Trial of Generic Substitution of Antiepileptic Drugs
NCT02633241	Phase 4	COMPLETED	A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging
NCT02645279	Phase 4	UNKNOWN	Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates