KIAA0513

Summary

KIAA0513 (HGNC:29058) is a protein-coding gene on chromosome 16q24.1, encoding Uncharacterized protein KIAA0513 (O60268).

Predicted to be located in cytoplasm.

Source: NCBI Gene 9764 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 105 total
• MANE Select transcript: NM_001388359

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29058
Approved symbol	KIAA0513
Name	KIAA0513
Location	16q24.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000135709
Ensembl biotype	protein_coding
OMIM	611675
Entrez	9764

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 retained_intron

ENST00000538274, ENST00000562388, ENST00000562564, ENST00000566428, ENST00000567328, ENST00000683363, ENST00000899390, ENST00000899391, ENST00000899392, ENST00000899393, ENST00000967222

RefSeq mRNA: 5 — MANE Select: NM_001388359 NM_001286565, NM_001286566, NM_001297766, NM_001388359, NM_014732

CCDS: CCDS32499, CCDS67091, CCDS73919

Canonical transcript exons

ENST00000683363 — 13 exons

Exon	Start	End
ENSE00000920980	85071783	85071882
ENSE00000920981	85072925	85072998
ENSE00000920982	85075844	85075914
ENSE00000920983	85077425	85077632
ENSE00000920984	85078415	85078455
ENSE00000920986	85081315	85081392
ENSE00000920987	85086644	85086724
ENSE00000920988	85087072	85087166
ENSE00001012407	85082564	85082593
ENSE00001263833	85078925	85079003
ENSE00001263840	85066900	85067400
ENSE00003917797	85027795	85027858
ENSE00003922100	85088276	85094218

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 99.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.0883 / max 548.2951, expressed in 1767 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155358	20.4083	1752
155356	0.3537	160
155357	0.1762	71
155360	0.1235	53
155359	0.0266	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	99.13	gold quality
middle temporal gyrus	UBERON:0002771	98.84	gold quality
Brodmann (1909) area 10	UBERON:0013541	98.70	gold quality
paraflocculus	UBERON:0005351	98.64	gold quality
frontal pole	UBERON:0002795	98.30	gold quality
parietal lobe	UBERON:0001872	98.17	gold quality
postcentral gyrus	UBERON:0002581	98.17	gold quality
superior frontal gyrus	UBERON:0002661	97.96	gold quality
pons	UBERON:0000988	97.94	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.87	gold quality
orbitofrontal cortex	UBERON:0004167	97.69	gold quality
entorhinal cortex	UBERON:0002728	97.49	gold quality
cerebellum	UBERON:0002037	97.48	gold quality
cerebellar cortex	UBERON:0002129	97.31	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.30	gold quality
cerebellar hemisphere	UBERON:0002245	97.29	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.27	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.02	gold quality
substantia nigra pars compacta	UBERON:0001965	96.68	gold quality
occipital lobe	UBERON:0002021	96.67	gold quality
CA1 field of hippocampus	UBERON:0003881	96.50	gold quality
primary visual cortex	UBERON:0002436	96.45	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.17	gold quality
superior vestibular nucleus	UBERON:0007227	96.00	gold quality
endometrium epithelium	UBERON:0004811	95.75	gold quality
frontal cortex	UBERON:0001870	95.63	gold quality
right frontal lobe	UBERON:0002810	95.62	gold quality
dorsal root ganglion	UBERON:0000044	95.53	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.09	gold quality
neocortex	UBERON:0001950	95.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	8.42
E-ANND-3	yes	5.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

226 targeting KIAA0513, 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-4692	100.00	67.32	2066
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1271-5P	99.91	71.99	1972

Literature-anchored findings (GeneRIF, showing 1)

• KIAA0513 is likely to be involved in signaling pathways related to neuroplasticity, apoptosis, and cytoskeletal regulation and is upregulated in the prefrontal cortex in schizophrenia. (PMID:17010949)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	kiaa0513	ENSDARG00000041599
mus_musculus	6430548M08Rik	ENSMUSG00000031824
rattus_norvegicus	6430548M08Rikl	ENSRNOG00000017431
drosophila_melanogaster	CG17378	FBGN0031858

Protein

Protein identifiers

Uncharacterized protein KIAA0513 — O60268 (reviewed: O60268)

All UniProt accessions (2): O60268, H3BNA7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed, highest levels in cerebellum, brain cortex, hippocampus, pons, putamen and amygdala. Highly expressed in neurons, but also present in glial cells. Slightly higher expression in the dorsolateral prefrontal cortex of schizophrenic patients compared to control individuals.

Isoforms (3)

UniProt ID	Names	Canonical?
O60268-1	1	yes
O60268-2	2
O60268-3	3

RefSeq proteins (5): NP_001273494, NP_001273495, NP_001284695, NP_001375288, NP_055547 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039872	KIAA0513	Family

UniProt features (10 total): compositionally biased region 3, region of interest 2, splice variant 2, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60268-F1	70.99	0.40

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): 279

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 192 (showing top): TGCACTT_MIR519C_MIR519B_MIR519A, CHUNG_BLISTER_CYTOTOXICITY_DN, MODULE_45, GOZGIT_ESR1_TARGETS_DN, MODULE_16, ZHAN_V1_LATE_DIFFERENTIATION_GENES_UP, LIAO_METASTASIS, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, CCCAGAG_MIR326, MODULE_38, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, SENGUPTA_EBNA1_ANTICORRELATED, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1417 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA0513	WWC1	Q8IX03	925
KIAA0513	INTS4	Q96HW7	915
KIAA0513	HAX1	O00165	754
KIAA0513	KLHL36	Q8N4N3	677
KIAA0513	CIBAR2	Q6ZTR7	605
KIAA0513	NOL10	Q9BSC4	506
KIAA0513	RAB39A	Q14964	474
KIAA0513	FEZ1	Q99689	453
KIAA0513	KIF13A	Q9H1H9	449
KIAA0513	EML1	O00423	449
KIAA0513	TMEM94	Q12767	440
KIAA0513	PHF21A	Q96BD5	438
KIAA0513	SMG7	Q92540	437
KIAA0513	KIF2A	O00139	424
KIAA0513	PABIR3	Q6P4D5	419

IntAct

9 interactions, top by confidence:

A	B	Type	Score
FOXK2	DVL2	psi-mi:“MI:0914”(association)	0.640
FOXK1	PHKG2	psi-mi:“MI:0914”(association)	0.350
MAPT	PITPNM1	psi-mi:“MI:2364”(proximity)	0.270
MAPT	DCTN6	psi-mi:“MI:2364”(proximity)	0.270
MAPT		psi-mi:“MI:2364”(proximity)	0.270

BioGRID (10): KIAA0513 (Affinity Capture-MS), KIAA0513 (Affinity Capture-MS), KIAA0513 (Affinity Capture-RNA), KIAA0513 (Affinity Capture-RNA), KIAA0513 (Proximity Label-MS), MTHFD1 (Cross-Linking-MS (XL-MS)), KIAA0513 (Affinity Capture-MS), KIAA0513 (Proximity Label-MS), KIAA0513 (Proximity Label-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A0A1L8GUX5, A0A571BF63, A0A8M9QN10, A1L1K1, A2ARM1, A2AVJ5, A7YDW0, O08576, O60268, P0C6P5, P97433, Q08E29, Q0V9V7, Q0VDN7, Q17QK1, Q2NKQ1, Q2NL11, Q3B7K9, Q3SYZ9, Q4R7B9, Q561Q8, Q59EK9, Q5E9L4, Q5E9R0, Q5EB20, Q5NVC2, Q5PQS0, Q5R565, Q5U3W3, Q5XHG1, Q61194, Q6AYK4, Q6MZQ0, Q6NXJ0, Q6P7D5, Q6PDC0, Q6ZUJ8, Q80ZQ3, Q8BPQ7, Q8N1W1

Diamond homologs: O60268, Q8R0A7

SIGNOR signaling

0 interactions.

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	81
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2387 predictions. Top by Δscore:

Variant	Effect	Δscore
16:85067399:GG:G	donor_gain	1.0000
16:85067400:GG:G	donor_gain	1.0000
16:85071778:TTTA:T	acceptor_loss	1.0000
16:85071779:TTA:T	acceptor_loss	1.0000
16:85071780:TA:T	acceptor_loss	1.0000
16:85071781:A:AG	acceptor_gain	1.0000
16:85071781:AG:A	acceptor_gain	1.0000
16:85071781:AGG:A	acceptor_gain	1.0000
16:85071782:G:GA	acceptor_gain	1.0000
16:85071782:GG:G	acceptor_gain	1.0000
16:85071782:GGG:G	acceptor_gain	1.0000
16:85071782:GGGA:G	acceptor_gain	1.0000
16:85071879:CCAG:C	donor_loss	1.0000
16:85071880:CAG:C	donor_loss	1.0000
16:85071882:GGTAA:G	donor_loss	1.0000
16:85072918:T:A	acceptor_gain	1.0000
16:85072919:G:A	acceptor_gain	1.0000
16:85072923:A:AG	acceptor_gain	1.0000
16:85072924:G:GG	acceptor_gain	1.0000
16:85072995:TCGAG:T	donor_loss	1.0000
16:85072996:CGAGT:C	donor_loss	1.0000
16:85072997:GA:G	donor_gain	1.0000
16:85072997:GAGT:G	donor_loss	1.0000
16:85072998:AGTA:A	donor_loss	1.0000
16:85072999:G:A	donor_loss	1.0000
16:85072999:G:GG	donor_gain	1.0000
16:85073000:TAA:T	donor_loss	1.0000
16:85073001:AA:A	donor_loss	1.0000
16:85073002:AG:A	donor_loss	1.0000
16:85075911:ATCGG:A	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000035136 (16:85039387 C>T), RS1000091235 (16:85087682 G>T), RS1000120315 (16:85040060 C>G), RS1000198082 (16:85052267 C>T), RS1000206063 (16:85055863 G>A), RS1000214101 (16:85032122 A>G), RS1000266134 (16:85056188 G>A,C,T), RS1000287890 (16:85083897 C>A,G,T), RS1000317635 (16:85031256 G>A), RS1000365686 (16:85058118 C>T), RS1000400245 (16:85048316 C>T), RS1000436065 (16:85079994 C>A,G,T), RS1000440481 (16:85052472 C>G), RS1000457352 (16:85081520 C>T), RS1000472241 (16:85027522 C>T)

Disease associations

OMIM: gene MIM:611675 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001664_11	Amyotrophic lateral sclerosis	5.000000e-07
GCST002995_16	Dysphagia	7.000000e-06
GCST009218_32	Lateral ventricle temporal horn volume	6.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	increases expression	3
Acetaminophen	increases expression	3
bisphenol A	increases expression	2
sodium arsenite	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Calcitriol	decreases expression, increases expression, affects cotreatment	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Tretinoin	increases expression	2
Valproic Acid	affects expression, increases expression	2
OTX015	increases expression	1
mivebresib	increases expression	1
triphenyl phosphate	affects expression	1
glycidyl methacrylate	increases expression	1
sulforaphane	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
phenethyl isothiocyanate	increases expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Ethanol	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Coumestrol	affects cotreatment, decreases expression	1
Drugs, Chinese Herbal	increases expression	1
Hydrogen Peroxide	affects expression	1
Lipopolysaccharides	affects response to substance, increases expression, decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
N-Nitrosopyrrolidine	increases expression	1

Clinical trials (associated diseases)

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