C15orf61

Summary

C15orf61 (chromosome 15 open reading frame 61, HGNC:34453) is a protein-coding gene on chromosome 15q23, encoding Uncharacterized protein C15orf61 (A6NNL5).

Located in mitochondrion.

Source: NCBI Gene 145853 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001143936

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34453
Approved symbol	C15orf61
Name	chromosome 15 open reading frame 61
Location	15q23
Locus type	gene with protein product
Status	Approved
Aliases	LOC145853
Ensembl gene	ENSG00000189227
Ensembl biotype	protein_coding
Entrez	145853

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000342683, ENST00000557807, ENST00000560041, ENST00000560547

RefSeq mRNA: 1 — MANE Select: NM_001143936 NM_001143936

CCDS: CCDS45289

Canonical transcript exons

ENST00000342683 — 2 exons

Exon	Start	End
ENSE00001365585	67526418	67530146
ENSE00001376397	67521131	67521594

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 98.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.0592 / max 177.1125, expressed in 1810 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147349	23.1797	1794
147348	3.8021	1553
147351	0.9368	495
147350	0.6382	318
147352	0.3454	163
147354	0.1452	37
147353	0.0116	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.95	gold quality
oocyte	CL:0000023	98.85	gold quality
vastus lateralis	UBERON:0001379	98.75	gold quality
left ventricle myocardium	UBERON:0006566	98.39	gold quality
biceps brachii	UBERON:0001507	98.23	gold quality
tibialis anterior	UBERON:0001385	98.07	gold quality
quadriceps femoris	UBERON:0001377	97.73	gold quality
endothelial cell	CL:0000115	97.71	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.67	gold quality
deltoid	UBERON:0001476	97.59	gold quality
body of tongue	UBERON:0011876	97.30	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.85	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.80	gold quality
sperm	CL:0000019	96.78	gold quality
adult organism	UBERON:0007023	95.97	gold quality
myocardium	UBERON:0002349	95.85	gold quality
upper arm skin	UBERON:0004263	95.85	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.53	gold quality
tongue	UBERON:0001723	94.98	gold quality
skeletal muscle tissue	UBERON:0001134	94.51	gold quality
middle temporal gyrus	UBERON:0002771	94.03	gold quality
ileal mucosa	UBERON:0000331	93.29	gold quality
epithelial cell of pancreas	CL:0000083	93.25	silver quality
heart right ventricle	UBERON:0002080	93.17	gold quality
pons	UBERON:0000988	93.07	gold quality
muscle tissue	UBERON:0002385	92.95	gold quality
upper leg skin	UBERON:0004262	92.80	gold quality
synovial joint	UBERON:0002217	92.58	gold quality
vena cava	UBERON:0004087	92.24	gold quality
kidney epithelium	UBERON:0004819	91.85	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.11
E-CURD-112	yes	13.21
E-MTAB-10042	yes	9.39
E-MTAB-9801	yes	6.62
E-MTAB-5061	yes	6.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting C15orf61, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-217-5P	99.49	69.93	1419

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	C18H15orf61	ENSDARG00000111588
mus_musculus	2300009A05Rik	ENSMUSG00000032403
rattus_norvegicus	C8h15orf61	ENSRNOG00000008340
drosophila_melanogaster	CG34148	FBGN0083984

Protein

Protein identifiers

Uncharacterized protein C15orf61 — A6NNL5 (reviewed: A6NNL5)

All UniProt accessions (2): A6NNL5, H0YN13

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

RefSeq proteins (1): NP_001137408* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029245	DUF4528	Family

Pfam: PF15031

UniProt features (2 total): signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NNL5-F1	91.61	0.75

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 83 (showing top): WEI_MYCN_TARGETS_WITH_E_BOX, DODD_NASOPHARYNGEAL_CARCINOMA_UP, chr15q23, MARTENS_TRETINOIN_RESPONSE_DN, CHAF1B_TARGET_GENES, CIITA_TARGET_GENES, FOXD2_TARGET_GENES, HES4_TARGET_GENES, HHEX_TARGET_GENES, ID2_TARGET_GENES, LHX9_TARGET_GENES, MAFG_TARGET_GENES, PTPRA_TARGET_GENES, SIX1_TARGET_GENES, SUPT16H_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): extracellular region (GO:0005576), mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C15orf61	MISO1	Q6P1S2	687
C15orf61	C15orf62	A8K5M9	630
C15orf61	UQCC4	Q4G0I0	511
C15orf61	MRPS18A	Q9NVS2	458
C15orf61	DNAJC4	Q9NNZ3	454
C15orf61	MRPL53	Q96EL3	448
C15orf61	GFM2	Q969S9	448
C15orf61	MTERF4	Q7Z6M4	426
C15orf61	NDUFAF8	A1L188	417
C15orf61	DNAJC11	Q9NVH1	401
C15orf61	HSDL1	Q3SXM5	400
C15orf61	TIMM22	Q9Y584	392
C15orf61	DMAC1	Q96GE9	391
C15orf61	NDUFAF1	Q9Y375	366
C15orf61	MTHFD2L	Q9H903	363

IntAct

10 interactions, top by confidence:

A	B	Type	Score
VIPR2	C15orf61	psi-mi:“MI:0914”(association)	0.350
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
CTLA4	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SLC16A8	C15orf61	psi-mi:“MI:0914”(association)	0.350
SLC19A2	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC35F1	C15orf61	psi-mi:“MI:0914”(association)	0.350
SLC39A14	ESYT2	psi-mi:“MI:0914”(association)	0.350
SV2B	C15orf61	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-RNA), C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-MS), C15orf61 (Affinity Capture-MS)

ESM2 similar proteins: A0A0D9SF12, A0A291NUG3, A0A291NUI4, A6NNL5, E1C7U0, F5HCP3, F5HFJ7, O75489, P03246, P03247, P03319, P03320, P03321, P05856, P06501, P09728, P10260, P15836, P16772, P20743, P28992, P36343, P36552, P43266, P52511, P53733, Q0MQG6, Q0MQG8, Q0VG49, Q32LC4, Q3B7D0, Q3KPU7, Q4R1S1, Q4R1S9, Q568Z9, Q5HZT8, Q5I2N3, Q5JX69, Q5R4I8, Q5XIF1

Diamond homologs: A6NNL5, Q0VG49

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

213 predictions. Top by Δscore:

Variant	Effect	Δscore
15:67521592:TCGG:T	donor_loss	0.9900
15:67521595:G:GG	donor_gain	0.9900
15:67521595:GT:G	donor_loss	0.9900
15:67521596:T:G	donor_loss	0.9900
15:67521597:G:GG	donor_loss	0.9900
15:67526488:T:G	donor_gain	0.9900
15:67526548:GT:G	donor_gain	0.9900
15:67521583:T:TA	donor_gain	0.9800
15:67521598:AGTGG:A	donor_loss	0.9800
15:67526412:TTCTA:T	acceptor_loss	0.9700
15:67526413:TCTA:T	acceptor_loss	0.9700
15:67526414:CTA:C	acceptor_loss	0.9700
15:67526415:TAG:T	acceptor_loss	0.9700
15:67526416:A:G	acceptor_loss	0.9700
15:67526417:G:GT	acceptor_loss	0.9700
15:67526408:T:A	acceptor_loss	0.9600
15:67526545:A:T	donor_gain	0.9600
15:67526547:A:AG	donor_gain	0.9600
15:67521599:G:C	donor_loss	0.9400
15:67526533:TGCC:T	donor_gain	0.9400
15:67526534:GCCA:G	donor_gain	0.9400
15:67526535:CCAT:C	donor_gain	0.9400
15:67521584:C:CA	donor_gain	0.9300
15:67528766:T:A	acceptor_gain	0.9300
15:67526410:TTTTC:T	acceptor_loss	0.9100
15:67526411:TTTCT:T	acceptor_loss	0.9100
15:67521683:C:T	donor_gain	0.9000
15:67526597:GC:G	donor_gain	0.9000
15:67521591:CTCG:C	donor_gain	0.8900
15:67521688:AG:A	donor_gain	0.8900

AlphaMissense

1005 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:67521484:T:A	V79D	0.995
15:67521515:G:C	K89N	0.995
15:67521515:G:T	K89N	0.995
15:67526510:T:C	F147L	0.995
15:67526512:T:A	F147L	0.995
15:67526512:T:G	F147L	0.995
15:67521399:T:C	F51L	0.993
15:67521401:C:A	F51L	0.993
15:67521401:C:G	F51L	0.993
15:67521489:C:A	R81S	0.992
15:67521516:T:C	Y90H	0.992
15:67521450:T:C	F68L	0.991
15:67521452:C:A	F68L	0.991
15:67521452:C:G	F68L	0.991
15:67521524:C:G	C92W	0.991
15:67521516:T:G	Y90D	0.990
15:67521517:A:C	Y90S	0.990
15:67526439:G:A	G123E	0.990
15:67526505:T:A	V145D	0.990
15:67526511:T:C	F147S	0.990
15:67521500:C:G	C84W	0.989
15:67521517:A:G	Y90C	0.988
15:67521514:A:T	K89M	0.987
15:67521400:T:C	F51S	0.986
15:67521451:T:C	F68S	0.986
15:67521519:C:G	H91D	0.986
15:67521455:C:A	N69K	0.985
15:67521455:C:G	N69K	0.985
15:67521507:T:C	F87L	0.985
15:67521509:C:A	F87L	0.985

dbSNP variants (sampled 300 via entrez): RS1000254365 (15:67524141 A>G), RS1000775517 (15:67519215 C>A,T), RS1000788598 (15:67519440 G>C,T), RS1000910884 (15:67526426 A>C,G,T), RS1000990649 (15:67525660 C>T), RS1001026237 (15:67520998 A>G), RS1001409666 (15:67526774 ATT>A,AT), RS1001459147 (15:67521040 G>A), RS1002245612 (15:67521170 C>T), RS1002258850 (15:67526904 A>G), RS1002451561 (15:67520548 C>A), RS1002716205 (15:67527259 A>G), RS1002807302 (15:67522435 G>A), RS1003612664 (15:67527912 A>G), RS1004151890 (15:67528201 A>C,T)

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

3 associations (top):

Study	Trait	p-value
GCST009798_20	Asthma	5.000000e-19
GCST009798_50	Asthma	4.000000e-07
GCST009798_80	Asthma	1.000000e-45

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
GSK-J4	increases expression	1
sodium arsenite	decreases expression	1
manganese chloride	increases abundance, increases 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
Temozolomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Diuron	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Formaldehyde	decreases expression	1
Manganese	increases abundance, increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1

Cellosaurus cell lines

6 cell lines: 6 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9YW	Ubigene HeLa C15orf61 KO	Cancer cell line	Female
CVCL_SG07	HAP1 C15orf61 (-) 1	Cancer cell line	Male
CVCL_XM22	HAP1 C15orf61 (-) 2	Cancer cell line	Male
CVCL_XM23	HAP1 C15orf61 (-) 3	Cancer cell line	Male
CVCL_XM24	HAP1 C15orf61 (-) 4	Cancer cell line	Male
CVCL_XM25	HAP1 C15orf61 (-) 5	Cancer cell line	Male

Clinical trials (associated diseases)

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