CEP57L1

Summary

CEP57L1 (centrosomal protein 57 like 1, HGNC:21561) is a protein-coding gene on chromosome 6q21, encoding Centrosomal protein CEP57L1 (Q8IYX8). Centrosomal protein which may be required for microtubule attachment to centrosomes.

Enables identical protein binding activity. Predicted to be located in cytoplasm; microtubule; and microtubule organizing center. Predicted to be active in centrosome.

Source: NCBI Gene 285753 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_001271852

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21561
Approved symbol	CEP57L1
Name	centrosomal protein 57 like 1
Location	6q21
Locus type	gene with protein product
Status	Approved
Aliases	bA487F23.2, MGC21731
Ensembl gene	ENSG00000183137
Ensembl biotype	protein_coding
Entrez	285753

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 32 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000359793, ENST00000368968, ENST00000368970, ENST00000517392, ENST00000518329, ENST00000518853, ENST00000519095, ENST00000519286, ENST00000519407, ENST00000520610, ENST00000520761, ENST00000520883, ENST00000521277, ENST00000521503, ENST00000521522, ENST00000521737, ENST00000522461, ENST00000522490, ENST00000522608, ENST00000523174, ENST00000523209, ENST00000523787, ENST00000524064, ENST00000873357, ENST00000873358, ENST00000873359, ENST00000873360, ENST00000873361, ENST00000873362, ENST00000873363, ENST00000873364, ENST00000873365, ENST00000921542, ENST00000921543, ENST00000960034

RefSeq mRNA: 19 — MANE Select: NM_001271852 NM_001083535, NM_001271852, NM_001271853, NM_001350652, NM_001350653, NM_001350654, NM_001350655, NM_001350656, NM_001350657, NM_001350658, NM_001350659, NM_001350660, NM_001350661, NM_001350662, NM_001350663, NM_001350664, NM_001350665, NM_001350666, NM_173830

CCDS: CCDS5071, CCDS64491, CCDS87427, CCDS87428, CCDS87429

Canonical transcript exons

ENST00000517392 — 11 exons

Exon	Start	End
ENSE00001329583	109160572	109160716
ENSE00002113591	109162749	109174418
ENSE00003498839	109155791	109155877
ENSE00003511132	109155230	109155307
ENSE00003549277	109159025	109159102
ENSE00003549456	109150118	109150239
ENSE00003568870	109153833	109153949
ENSE00003621014	109146758	109146937
ENSE00003656710	109159269	109159462
ENSE00003796880	109145219	109145381
ENSE00003909071	109095507	109095575

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 97.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.4766 / max 88.6392, expressed in 1574 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69226	3.6830	1453
69225	0.7936	516

Top tissues by expression

245 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.18	gold quality
calcaneal tendon	UBERON:0003701	89.54	gold quality
ganglionic eminence	UBERON:0004023	87.61	gold quality
ventricular zone	UBERON:0003053	87.35	gold quality
adrenal tissue	UBERON:0018303	87.23	gold quality
left testis	UBERON:0004533	86.85	gold quality
colonic epithelium	UBERON:0000397	86.58	gold quality
right testis	UBERON:0004534	86.00	gold quality
testis	UBERON:0000473	85.22	gold quality
mucosa of stomach	UBERON:0001199	84.76	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.62	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.16	gold quality
sural nerve	UBERON:0015488	84.04	gold quality
smooth muscle tissue	UBERON:0001135	83.81	gold quality
cortical plate	UBERON:0005343	83.67	gold quality
stromal cell of endometrium	CL:0002255	83.63	gold quality
rectum	UBERON:0001052	83.09	gold quality
bone marrow cell	CL:0002092	81.73	gold quality
gall bladder	UBERON:0002110	81.68	gold quality
tibial nerve	UBERON:0001323	81.61	gold quality
tibial artery	UBERON:0007610	81.29	gold quality
secondary oocyte	CL:0000655	81.28	gold quality
popliteal artery	UBERON:0002250	81.28	gold quality
islet of Langerhans	UBERON:0000006	81.22	gold quality
descending thoracic aorta	UBERON:0002345	81.04	gold quality
oocyte	CL:0000023	80.99	gold quality
omental fat pad	UBERON:0010414	80.67	gold quality
aorta	UBERON:0000947	80.65	gold quality
left coronary artery	UBERON:0001626	80.65	gold quality
peritoneum	UBERON:0002358	80.56	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	7.87
E-ANND-3	yes	4.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

91 targeting CEP57L1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-545-3P	99.95	70.74	2783
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Literature-anchored findings (GeneRIF, showing 1)

• Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle. (PMID:33492359)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep57l1	ENSDARG00000002826
mus_musculus	Cep57l1	ENSMUSG00000019813
rattus_norvegicus	Cep57l1	ENSRNOG00000000303

Paralogs (1): CEP57 (ENSG00000166037)

Protein

Protein identifiers

Centrosomal protein CEP57L1 — Q8IYX8 (reviewed: Q8IYX8)

Alternative names: Centrosomal protein 57kDa-like protein 1, Centrosomal protein of 57 kDa-related protein, Cep57-related protein

All UniProt accessions (19): Q8IYX8, E5RFY4, E5RG21, E5RG82, E5RGP2, E5RGU5, E5RH23, E5RHF8, E5RI49, E5RIK8, E5RIV2, E5RJG4, E5RJH1, E5RJP9, E5RK85, G3V140, H0YB52, Q5T6A0, Q6P2R3

UniProt curated annotations — full annotation on UniProt →

Function. Centrosomal protein which may be required for microtubule attachment to centrosomes.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Similarity. Belongs to the translokin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IYX8-1	1	yes
Q8IYX8-2	2

RefSeq proteins (19): NP_001077004, NP_001258781, NP_001258782, NP_001337581, NP_001337582, NP_001337583, NP_001337584, NP_001337585, NP_001337586, NP_001337587, NP_001337588, NP_001337589, NP_001337590, NP_001337591, NP_001337592, NP_001337593, NP_001337594, NP_001337595, NP_776191 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024957	Cep57_MT-bd_dom	Domain
IPR025913	Cep57_CLD	Domain
IPR051756	Centrosomal_MT-associated	Family

Pfam: PF06657, PF14073

UniProt features (9 total): coiled-coil region 2, splice variant 2, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYX8-F1	72.95	0.50

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 (1): 49

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 115 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, FISCHER_DREAM_TARGETS, GRADE_COLON_AND_RECTAL_CANCER_UP, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOMF_GAMMA_TUBULIN_BINDING, GOMF_CYTOSKELETAL_PROTEIN_BINDING, TTTGCAG_MIR518A2, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GOCC_SUPRAMOLECULAR_POLYMER, DIDO1_TARGET_GENES, E2F2_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (4): microtubule binding (GO:0008017), identical protein binding (GO:0042802), gamma-tubulin binding (GO:0043015), protein binding (GO:0005515)

GO Cellular Component (4): centrosome (GO:0005813), microtubule (GO:0005874), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
tubulin binding	2
protein binding	1
binding	1
centriole	1
microtubule organizing center	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

296 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP57L1	CEP63	Q96MT8	446
CEP57L1	CEP152	O94986	420
CEP57L1	CEP295	Q9C0D2	390
CEP57L1	FBXO46	Q6PJ61	390
CEP57L1	ZNF461	Q8TAF7	378
CEP57L1	HUS1B	Q8NHY5	371
CEP57L1	CEP192	Q8TEP8	348
CEP57L1	CD164	Q04900	323
CEP57L1	SASS6	Q6UVJ0	322
CEP57L1	TRAPPC12	Q8WVT3	321
CEP57L1	CLIP1	P30622	309
CEP57L1	POC5	Q8NA72	269
CEP57L1	ODF2	Q5BJF6	259
CEP57L1	NDC80	O14777	258
CEP57L1	TOP3B	O95985	258

IntAct

141 interactions, top by confidence:

A	B	Type	Score
GOLGA2	CEP57L1	psi-mi:“MI:0915”(physical association)	0.720
MDFI	CEP57L1	psi-mi:“MI:0915”(physical association)	0.720
KATNAL1	CEP57L1	psi-mi:“MI:0915”(physical association)	0.720
CEP57L1	KATNAL1	psi-mi:“MI:0915”(physical association)	0.720
CEP57L1	MDFI	psi-mi:“MI:0915”(physical association)	0.720
CEP55	CEP57L1	psi-mi:“MI:0915”(physical association)	0.670
CEP57L1	CEP55	psi-mi:“MI:0915”(physical association)	0.670
CEP57L1	CEP57L1	psi-mi:“MI:0915”(physical association)	0.670
rep	CEP57L1	psi-mi:“MI:0915”(physical association)	0.670
CEP57L1	rep	psi-mi:“MI:0915”(physical association)	0.670
ZNF572	CEP57L1	psi-mi:“MI:0915”(physical association)	0.600
MFAP1	CEP57L1	psi-mi:“MI:0915”(physical association)	0.560
CEP57L1	CEP57L1	psi-mi:“MI:0915”(physical association)	0.560
CALCOCO2	CEP57L1	psi-mi:“MI:0915”(physical association)	0.560
CEP57L1	KRT31	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	CEP57L1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (113): CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid), CEP57L1 (Two-hybrid)

ESM2 similar proteins: A0JMQ7, A2BGP7, A4D2H0, A4FU28, B4F7A7, O75665, P0C219, P0CG41, Q05D60, Q15025, Q28BZ7, Q28C41, Q2T9X8, Q32LC2, Q499E4, Q4PJT6, Q4R7I4, Q5FWP9, Q5U3Z6, Q5U465, Q5XIA0, Q5XJA2, Q5ZJA3, Q6AXZ4, Q6NRH3, Q6P926, Q6PCG6, Q7M6Y5, Q80Z25, Q865V0, Q86UF2, Q86W54, Q86XR8, Q86YF9, Q86Z20, Q8BMD2, Q8CEE0, Q8IX94, Q8IYJ2, Q8IYX8

Diamond homologs: B4F7A7, Q28BZ7, Q5FWP9, Q6AXZ4, Q865V0, Q86XR8, Q8CEE0, Q8IYX8, Q8VDS7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3023 predictions. Top by Δscore:

Variant	Effect	Δscore
6:109146756:A:AG	acceptor_gain	1.0000
6:109146757:G:GG	acceptor_gain	1.0000
6:109146757:GCT:G	acceptor_gain	1.0000
6:109146757:GCTCT:G	acceptor_gain	1.0000
6:109146933:AAAAG:A	donor_gain	1.0000
6:109146934:AAAG:A	donor_gain	1.0000
6:109146935:AAG:A	donor_gain	1.0000
6:109146935:AAGGT:A	donor_loss	1.0000
6:109146936:AG:A	donor_gain	1.0000
6:109146937:GG:G	donor_gain	1.0000
6:109146937:GGTAA:G	donor_loss	1.0000
6:109146938:G:GG	donor_gain	1.0000
6:109150236:ACAGG:A	donor_loss	1.0000
6:109150237:CAGG:C	donor_loss	1.0000
6:109150238:AGG:A	donor_loss	1.0000
6:109150239:GGTGA:G	donor_loss	1.0000
6:109150240:G:GA	donor_loss	1.0000
6:109150241:T:G	donor_loss	1.0000
6:109153822:A:AG	acceptor_gain	1.0000
6:109153823:T:G	acceptor_gain	1.0000
6:109153828:TCTA:T	acceptor_loss	1.0000
6:109153829:CTA:C	acceptor_loss	1.0000
6:109153831:A:AG	acceptor_gain	1.0000
6:109153831:A:C	acceptor_loss	1.0000
6:109153831:AG:A	acceptor_gain	1.0000
6:109153832:G:GA	acceptor_gain	1.0000
6:109153832:GG:G	acceptor_gain	1.0000
6:109153832:GGC:G	acceptor_gain	1.0000
6:109153832:GGCC:G	acceptor_gain	1.0000
6:109153832:GGCCC:G	acceptor_gain	1.0000

AlphaMissense

3084 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:109146823:G:C	A76P	0.992
6:109155279:G:C	R210P	0.992
6:109146782:T:C	L62P	0.987
6:109150175:T:C	L133P	0.987
6:109146836:T:C	L80P	0.985
6:109153924:T:C	L185P	0.984
6:109160697:T:C	L381P	0.984
6:109155258:T:C	L203P	0.982
6:109146856:G:C	A87P	0.979
6:109153944:G:C	A192P	0.979
6:109162959:T:A	W458R	0.978
6:109162959:T:C	W458R	0.978
6:109150141:G:C	A122P	0.977
6:109146770:C:A	A58D	0.976
6:109146791:A:T	K65I	0.976
6:109146803:T:C	L69S	0.976
6:109150163:T:C	L129P	0.975
6:109146773:T:C	L59S	0.973
6:109150211:G:C	R145P	0.971
6:109162961:G:C	W458C	0.970
6:109162961:G:T	W458C	0.970
6:109160677:A:C	K374N	0.968
6:109160677:A:T	K374N	0.968
6:109146816:A:C	R73S	0.967
6:109146816:A:T	R73S	0.967
6:109153894:T:C	L175P	0.967
6:109146782:T:A	L62H	0.964
6:109162939:T:C	L451S	0.964
6:109150151:G:C	R125P	0.961
6:109146769:G:C	A58P	0.960

dbSNP variants (sampled 300 via entrez): RS1000025947 (6:109098314 A>G), RS1000101727 (6:109104804 C>A), RS1000138647 (6:109158340 T>A), RS1000163262 (6:109109707 A>G), RS1000181772 (6:109138938 C>G), RS1000189311 (6:109136672 A>G,T), RS1000195068 (6:109129404 A>G), RS1000245859 (6:109129742 C>T), RS1000249811 (6:109133412 G>A), RS1000379712 (6:109127521 ACTTCT>A), RS1000403283 (6:109123356 G>A,T), RS1000410915 (6:109127701 A>C,G), RS1000431308 (6:109170685 G>A), RS1000530334 (6:109152636 C>T), RS1000606689 (6:109096365 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST000585_15	Mean corpuscular volume	3.000000e-08
GCST000587_15	Mean corpuscular hemoglobin	1.000000e-08
GCST000588_7	Red blood cell count	7.000000e-09
GCST001942_10	Prostate cancer	8.000000e-09
GCST004283_12	Midgestational circulating levels of PCBs	1.000000e-06
GCST004283_15	Midgestational circulating levels of PCBs	4.000000e-07
GCST004283_18	Midgestational circulating levels of PCBs	1.000000e-07
GCST004283_20	Midgestational circulating levels of PCBs	4.000000e-06
GCST004283_21	Midgestational circulating levels of PCBs	3.000000e-06
GCST004283_22	Midgestational circulating levels of PCBs	7.000000e-07
GCST004283_3	Midgestational circulating levels of PCBs	4.000000e-07
GCST004283_4	Midgestational circulating levels of PCBs	1.000000e-07
GCST010241_376	Apolipoprotein A1 levels	5.000000e-10
GCST010242_427	HDL cholesterol levels	8.000000e-22

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0007042	polychlorinated biphenyls measurement
EFO:0007964	gestational serum measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression, increases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Leflunomide	decreases expression	1
Calcitriol	decreases expression, affects cotreatment	1
Coumestrol	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Gallic Acid	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Testosterone	decreases expression, affects cotreatment	1
Urethane	increases expression	1
Valproic Acid	decreases methylation	1
Cyclosporine	increases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.