KIAA1328

Summary

KIAA1328 (HGNC:29248) is a protein-coding gene on chromosome 18q12.2, encoding Protein hinderin (Q86T90). Competes with SMC1 for binding to SMC3.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 105 total
• MANE Select transcript: NM_020776

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29248
Approved symbol	KIAA1328
Name	KIAA1328
Location	18q12.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000150477
Ensembl biotype	protein_coding
OMIM	616480
Entrez	57536

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000280020, ENST00000586135, ENST00000586501, ENST00000587139, ENST00000590456, ENST00000590617, ENST00000591619, ENST00000591911, ENST00000592521, ENST00000592611, ENST00000599493, ENST00000601437, ENST00000908902

RefSeq mRNA: 5 — MANE Select: NM_020776 NM_001322327, NM_001353918, NM_001353919, NM_001353920, NM_020776

CCDS: CCDS45855

Canonical transcript exons

ENST00000280020 — 10 exons

Exon	Start	End
ENSE00001248990	37222017	37225334
ENSE00003458646	36829127	36829196
ENSE00003499541	36959308	36959435
ENSE00003538466	36835234	36835376
ENSE00003556019	36834320	36834355
ENSE00003586829	37160200	37160381
ENSE00003607997	36844208	36844302
ENSE00003610025	36885557	36885672
ENSE00003636218	37066890	37067545
ENSE00003665864	37172973	37173081

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 90.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.1027 / max 186.5970, expressed in 1640 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169979	7.1027	1640

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	90.85	gold quality
sural nerve	UBERON:0015488	89.88	gold quality
bone marrow cell	CL:0002092	88.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.13	gold quality
tendon	UBERON:0000043	85.36	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.13	gold quality
left testis	UBERON:0004533	82.92	gold quality
right testis	UBERON:0004534	82.31	gold quality
ventricular zone	UBERON:0003053	81.96	gold quality
testis	UBERON:0000473	81.10	gold quality
left ovary	UBERON:0002119	80.61	gold quality
colonic epithelium	UBERON:0000397	79.63	gold quality
ganglionic eminence	UBERON:0004023	79.56	gold quality
right ovary	UBERON:0002118	78.72	gold quality
pancreatic ductal cell	CL:0002079	78.68	silver quality
popliteal artery	UBERON:0002250	78.47	gold quality
tibial artery	UBERON:0007610	78.44	gold quality
adrenal tissue	UBERON:0018303	78.44	gold quality
tendon of biceps brachii	UBERON:0008188	78.14	gold quality
cortical plate	UBERON:0005343	78.13	gold quality
tibial nerve	UBERON:0001323	77.91	gold quality
endothelial cell	CL:0000115	77.84	gold quality
aorta	UBERON:0000947	77.36	gold quality
skin of abdomen	UBERON:0001416	77.19	gold quality
ovary	UBERON:0000992	77.18	gold quality
skin of leg	UBERON:0001511	77.02	gold quality
right lung	UBERON:0002167	76.90	gold quality
hindlimb stylopod muscle	UBERON:0004252	76.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.61	gold quality
endocervix	UBERON:0000458	76.56	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	442.18
E-MTAB-7249	yes	11.00
E-ANND-3	yes	6.53
E-CURD-135	no	2329.23
E-GEOD-150728	no	1999.73
E-MTAB-6379	no	173.51
E-HCAD-31	no	2.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

130 targeting KIAA1328, 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-7110-3P	100.00	73.18	2486
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6756-5P	99.82	67.97	2466

Literature-anchored findings (GeneRIF, showing 1)

• Hinderin is a novel binding partner of SMC3. Based on its ability to modulate SMC1/SMC3 interaction we postulate that Hinderin affects the availability of SMC3 to engage in the formation of multimeric protein complexes. (PMID:15656913)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	AW554918	ENSMUSG00000033632
rattus_norvegicus	Kiaa1328	ENSRNOG00000029466

Protein

Protein identifiers

Protein hinderin — Q86T90 (reviewed: Q86T90)

All UniProt accessions (5): Q86T90, K7EJ61, K7EM46, K7EP66, M0QYQ2

UniProt curated annotations — full annotation on UniProt →

Function. Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes.

Subunit / interactions. Interacts (via N- and C-terminal domains) with SMC3 (via central hinge region).

Tissue specificity. Widely expressed.

Isoforms (4)

UniProt ID	Names	Canonical?
Q86T90-1	1	yes
Q86T90-2	2
Q86T90-3	3
Q86T90-4	4

RefSeq proteins (5): NP_001309256, NP_001340847, NP_001340848, NP_001340849, NP_065827* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032736	Hinderin	Family

Pfam: PF15369

UniProt features (23 total): splice variant 7, region of interest 4, modified residue 4, sequence conflict 2, coiled-coil region 2, compositionally biased region 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86T90-F1	61.43	0.25

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 (4): 179, 490, 521, 21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): chr18q12, GSE13547_WT_VS_ZFX_KO_BCELL_ANTI_IGM_STIM_2H_DN, FOXD2_TARGET_GENES, HHEX_TARGET_GENES, HOXB6_TARGET_GENES, ID1_TARGET_GENES, LMNB2_TARGET_GENES, NFE2L1_TARGET_GENES, SKIL_TARGET_GENES, TAFAZZIN_TARGET_GENES, ZNF618_TARGET_GENES, MIR3121_3P, MIR4306, MIR7110_3P, MIR4644

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

524 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA1328	TPGS2	Q68CL5	714
KIAA1328	FAM120A2P	Q5T035	594
KIAA1328	KRTAP24-1	Q3LI83	578
KIAA1328	SPATA32	Q96LK8	567
KIAA1328	TMEM126B	Q8IUX1	495
KIAA1328	CATSPER1	Q8NEC5	474
KIAA1328	TEX11	Q8IYF3	462
KIAA1328	XRCC6	P12956	456
KIAA1328	NDUFA10	O95299	443
KIAA1328	REC8	O95072	427
KIAA1328	PARP9	Q8IXQ6	427
KIAA1328	C2orf69	Q8N8R5	413
KIAA1328	G3V325	G3V325	411
KIAA1328	ANKRD13C	Q8N6S4	411
KIAA1328	PCNT	O95613	409

IntAct

134 interactions, top by confidence:

A	B	Type	Score
KIAA1328	ZGPAT	psi-mi:“MI:0915”(physical association)	0.630
ZGPAT	KIAA1328	psi-mi:“MI:0915”(physical association)	0.630
ENKD1	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
TSTD2	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
IFT74	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
ZNF417	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
CYTH4	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
MIPOL1	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
CCDC17	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
CCHCR1	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
BYSL	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
CLCNKA	KIAA1328	psi-mi:“MI:0915”(physical association)	0.560
KIAA1328	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
KIAA1328	IFT74	psi-mi:“MI:0915”(physical association)	0.560
KIAA1328	ZNF417	psi-mi:“MI:0915”(physical association)	0.560
KIAA1328	CYTH4	psi-mi:“MI:0915”(physical association)	0.560
KIAA1328	MIPOL1	psi-mi:“MI:0915”(physical association)	0.560
KIAA1328	CCDC17	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (54): KIAA1328 (Proximity Label-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Affinity Capture-MS), KIAA1328 (Proximity Label-MS), KIAA1328 (Affinity Capture-RNA), KIAA1328 (Two-hybrid), KIAA1328 (Two-hybrid)

ESM2 similar proteins: A0A0A6YY25, A0A5K7RLP0, A6NMK8, A8MVX0, B2RQL2, B2RXH4, C9JSJ3, D2J0Y4, O54824, P97303, Q01954, Q05AH6, Q0VET5, Q14005, Q1W617, Q2YDE2, Q3MHT3, Q3U0P1, Q3ULM6, Q3UXL4, Q4R7L6, Q5RC05, Q5T0L3, Q68CR7, Q6GQV1, Q6NS69, Q6NZK5, Q6P1D7, Q6PG16, Q6ZVT6, Q7Z4V0, Q80W88, Q80XI1, Q811R2, Q86T90, Q86YN6, Q8BHP2, Q8BLK9, Q8BP99, Q8BW86

Diamond homologs: Q6NZK5, Q86T90

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 54 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Loss of Nlp from mitotic centrosomes	5	26.4×	8e-05
Loss of proteins required for interphase microtubule organization from the centrosome	5	26.4×	8e-05
AURKA Activation by TPX2	5	25.4×	8e-05
Recruitment of mitotic centrosome proteins and complexes	5	22.7×	1e-04
Regulation of PLK1 Activity at G2/M Transition	5	21.1×	1e-04
Recruitment of NuMA to mitotic centrosomes	5	19.4×	1e-04
Anchoring of the basal body to the plasma membrane	5	18.8×	1e-04
Cell Cycle, Mitotic	5	8.0×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
non-motile cilium assembly	5	33.0×	7e-05
cilium assembly	8	13.4×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	74
Likely benign	11
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

4642 predictions. Top by Δscore:

Variant	Effect	Δscore
18:36834305:T:G	acceptor_gain	1.0000
18:36835221:T:TA	acceptor_gain	1.0000
18:36835372:AACAG:A	donor_loss	1.0000
18:36835373:ACAGG:A	donor_loss	1.0000
18:36835375:AGGTT:A	donor_loss	1.0000
18:36835376:GGTT:G	donor_loss	1.0000
18:36835377:G:GA	donor_loss	1.0000
18:36844206:A:G	acceptor_gain	1.0000
18:36885669:G:GT	donor_gain	1.0000
18:36885684:A:T	donor_gain	1.0000
18:36959300:A:AG	acceptor_gain	1.0000
18:37067541:AATTG:A	donor_gain	1.0000
18:37067542:ATTG:A	donor_gain	1.0000
18:37067543:TTG:T	donor_gain	1.0000
18:37067544:TG:T	donor_gain	1.0000
18:37067544:TGG:T	donor_loss	1.0000
18:37067545:GG:G	donor_gain	1.0000
18:37067546:G:GG	donor_gain	1.0000
18:37067546:GTGA:G	donor_loss	1.0000
18:37067547:T:A	donor_loss	1.0000
18:37160198:A:AG	acceptor_gain	1.0000
18:37160199:G:GG	acceptor_gain	1.0000
18:37172969:ATAG:A	acceptor_gain	1.0000
18:37173078:CCCGG:C	donor_loss	1.0000
18:37173079:CCGG:C	donor_loss	1.0000
18:37173082:G:GA	donor_loss	1.0000
18:37173082:G:GG	donor_gain	1.0000
18:37173083:T:G	donor_loss	1.0000
18:36834202:GTTA:G	acceptor_gain	0.9900
18:36835219:A:AG	acceptor_gain	0.9900

AlphaMissense

3767 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:36844242:T:C	L91S	0.999
18:36844251:T:C	L94S	0.999
18:36844266:A:T	K99I	0.999
18:36844267:A:C	K99N	0.999
18:36844267:A:T	K99N	0.999
18:36844272:G:C	R101P	0.999
18:36844277:G:C	A103P	0.999
18:36844284:T:C	L105S	0.999
18:36844296:T:C	L109P	0.999
18:36844265:A:G	K99E	0.998
18:36844275:T:G	I102S	0.998
18:36844287:T:A	I106N	0.998
18:36844298:G:C	A110P	0.998
18:36959341:T:C	L161P	0.998
18:36844262:G:C	D98H	0.997
18:36844263:A:C	D98A	0.997
18:36844263:A:T	D98V	0.997
18:36844271:C:A	R101S	0.997
18:36844275:T:A	I102N	0.997
18:36844287:T:G	I106S	0.997
18:36844296:T:A	L109Q	0.997
18:36885592:T:C	L123P	0.997
18:36885634:T:C	L137S	0.997
18:36885643:A:C	Q140P	0.997
18:36959344:T:C	L162P	0.997
18:37067443:T:C	L377P	0.997
18:37067464:T:C	L384P	0.997
18:36844265:A:C	K99Q	0.996
18:36844287:T:C	I106T	0.996
18:36885612:T:C	F130L	0.996

dbSNP variants (sampled 300 via entrez): RS1000008585 (18:36837009 T>C), RS1000025108 (18:37143544 G>C,T), RS1000028780 (18:36927482 C>T), RS1000038458 (18:37126105 C>T), RS1000041015 (18:37011979 T>G), RS1000046420 (18:37037861 G>A), RS1000047221 (18:36948879 G>A,C), RS1000062207 (18:36832668 A>G), RS1000068291 (18:37086010 C>T), RS1000071875 (18:36925200 A>G), RS1000077545 (18:37037469 T>G), RS1000080537 (18:36927642 A>G,T), RS1000085796 (18:36953806 C>G), RS1000088449 (18:37135209 T>A,G), RS1000096275 (18:36827143 A>C)

Disease associations

OMIM: gene MIM:616480 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002312_2	Periodontal disease-related phenotype (Socransky)	6.000000e-06
GCST006268_486	Reaction time	1.000000e-08
GCST007325_153	General risk tolerance (MTAG)	6.000000e-12
GCST008152_92	Weight	3.000000e-06
GCST008158_76	Body mass index	1.000000e-06
GCST008551_13	Simvastatin-induced myopathy	5.000000e-06
GCST009391_1263	Metabolite levels	9.000000e-06
GCST009391_1493	Metabolite levels	2.000000e-06
GCST009391_1508	Metabolite levels	2.000000e-06
GCST009391_1700	Metabolite levels	9.000000e-06
GCST009391_450	Metabolite levels	8.000000e-06
GCST012145_9	Ferritin levels	5.000000e-07

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0008393	reaction time measurement
EFO:0008579	risk-taking behaviour
EFO:0004338	body weight
EFO:0004340	body mass index
EFO:0004761	uric acid measurement
EFO:0010416	triacylglycerol 52:4 measurement
EFO:0010417	triacylglycerol 52:5 measurement
EFO:0010344	cholesteryl ester 18:1 measurement
EFO:0010386	phosphatidylcholine 38:4 measurement
EFO:0004459	ferritin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tretinoin	decreases expression, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases methylation	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
titanium dioxide	increases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	increases methylation, affects cotreatment	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	increases phosphorylation	1
Doxorubicin	decreases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Tobacco Smoke Pollution	increases methylation	1
Gold Compounds	increases expression	1
Antirheumatic Agents	increases expression	1
Magnetite Nanoparticles	increases expression	1

Clinical trials (associated diseases)

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