C1orf141

gene

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Summary

C1orf141 (chromosome 1 open reading frame 141, HGNC:32044) is a protein-coding gene on chromosome 1p31.3, encoding Uncharacterized protein C1orf141 (Q5JVX7).

At a glance

GWAS associations: 10
Clinical variants (ClinVar): 7 total
MANE Select transcript: NM_001276351

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32044
Approved symbol	C1orf141
Name	chromosome 1 open reading frame 141
Location	1p31.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000203963
Ensembl biotype	protein_coding
Entrez	400757

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000371004, ENST00000371006, ENST00000371007, ENST00000448166, ENST00000475209, ENST00000544837, ENST00000603691, ENST00000621590, ENST00000684719

RefSeq mRNA: 2 — MANE Select: NM_001276351 NM_001276351, NM_001276352

CCDS: CCDS30745, CCDS72804

Canonical transcript exons

ENST00000684719 — 8 exons

Exon	Start	End
ENSE00001454105	67095235	67095421
ENSE00001454107	67115352	67115464
ENSE00001511756	67131142	67131227
ENSE00003468620	67125752	67125909
ENSE00003497737	67092165	67093604
ENSE00003498908	67127166	67127257
ENSE00003534073	67134930	67134970
ENSE00003733490	67096252	67096321

Expression profiles

Bgee: expression breadth broad, 63 present calls, max score 84.08.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0428 / max 10.3836, expressed in 24 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12740	0.0428	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	84.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.13	gold quality
testis	UBERON:0000473	79.52	gold quality
right testis	UBERON:0004534	79.41	gold quality
left testis	UBERON:0004533	79.39	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	68.60	gold quality
quadriceps femoris	UBERON:0001377	64.14	gold quality
fallopian tube	UBERON:0003889	64.13	gold quality
cerebellar vermis	UBERON:0004720	63.05	gold quality
thymus	UBERON:0002370	59.50	silver quality
caudate nucleus	UBERON:0001873	55.67	gold quality
adrenal tissue	UBERON:0018303	54.51	gold quality
islet of Langerhans	UBERON:0000006	54.34	gold quality
hypothalamus	UBERON:0001898	52.86	gold quality
right lung	UBERON:0002167	52.55	gold quality
temporal lobe	UBERON:0001871	52.53	gold quality
amygdala	UBERON:0001876	52.43	gold quality
Ammon’s horn	UBERON:0001954	51.58	gold quality
nucleus accumbens	UBERON:0001882	50.75	gold quality
corpus callosum	UBERON:0002336	48.15	gold quality
putamen	UBERON:0001874	47.21	gold quality
cerebral cortex	UBERON:0000956	45.01	gold quality
prefrontal cortex	UBERON:0000451	44.66	gold quality
anterior cingulate cortex	UBERON:0009835	44.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	44.24	gold quality
brain	UBERON:0000955	44.20	gold quality
substantia nigra	UBERON:0002038	43.95	gold quality
superior frontal gyrus	UBERON:0002661	43.90	silver quality
frontal cortex	UBERON:0001870	43.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	43.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	4921539E11Rik	ENSMUSG00000028520
rattus_norvegicus	C5h1orf141	ENSRNOG00000022890

Protein

Protein identifiers

Uncharacterized protein C1orf141 — Q5JVX7 (reviewed: Q5JVX7)

All UniProt accessions (5): Q5JVX7, A0A0A0MTM1, F2Z2X7, Q5JVX6, S4R3Z8

Isoforms (2)

UniProt ID	Names	Canonical?
Q5JVX7-1	1	yes
Q5JVX7-2	2

RefSeq proteins (2): NP_001263280, NP_001263281 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027847	DUF4545	Family

Pfam: PF15078

UniProt features (7 total): splice variant 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JVX7-F1	47.74	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 41 (showing top): PAX3_TARGET_GENES, MIR3662, MIR4659A_3P_MIR4659B_3P, MIR548AW, MIR579_3P, MIR664B_3P, MIR539_5P, MIR4677_5P, MIR7154_5P, MIR548G_3P, MIR3160_5P, MIR4760_5P, MIR302F, MIR6739_3P, MIR8061

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

592 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf141	ITPRID1	Q6ZRS4	576
C1orf141	IL23R	Q5VWK5	505
C1orf141	SLC35D1	Q9NTN3	470
C1orf141	LAPTM4B	Q86VI4	464
C1orf141	FIG4	Q92562	447
C1orf141	OR6K3	Q8NGY3	446
C1orf141	SPATA45	Q537H7	446
C1orf141	SATL1	Q86VE3	418
C1orf141	C8orf74	Q6P047	410
C1orf141	FYB2	Q5VWT5	374
C1orf141	EGR2	P11161	370
C1orf141	POTEH	Q6S545	370
C1orf141	C22orf39	Q6P5X5	366
C1orf141	ZFYVE16	Q7Z3T8	358
C1orf141	OS9	Q13438	354

IntAct

0 interactions, top by confidence:

BioGRID (2): C1orf141 (Affinity Capture-MS), LAMA3 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GTZ2, A1KXM5, A2AEY4, A4UHQ4, A6NE01, F4IHS2, F4J1G1, F6XZJ7, O55527, O75969, P04861, P04862, P06162, P06163, P11459, P14253, P14254, P28055, P32533, P35940, P69738, Q03703, Q06813, Q07967, Q09280, Q09458, Q11114, Q11194, Q2T9U9, Q2YDE5, Q53TS8, Q5JVX7, Q66H17, Q6UW49, Q6X1D3, Q8R0E5, Q8TAL5, Q94CG5, Q95J40, Q95JN2

Diamond homologs: Q2KIL1, Q5JVX7, Q9D5Q8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3920 predictions. Top by Δscore:

Variant	Effect	Δscore
1:67111645:C:CC	acceptor_gain	1.0000
1:67125922:CAAAG:C	acceptor_gain	1.0000
1:67168088:CCAG:C	acceptor_gain	1.0000
1:67168089:CAG:C	acceptor_gain	1.0000
1:67168090:A:AG	acceptor_gain	1.0000
1:67168090:AGA:A	acceptor_gain	1.0000
1:67168090:AGAG:A	acceptor_gain	1.0000
1:67168091:G:GG	acceptor_gain	1.0000
1:67168091:GA:G	acceptor_gain	1.0000
1:67168091:GAG:G	acceptor_gain	1.0000
1:67168091:GAGG:G	acceptor_gain	1.0000
1:67169336:TTCTA:T	acceptor_loss	1.0000
1:67169337:TCTA:T	acceptor_loss	1.0000
1:67169338:CTAG:C	acceptor_loss	1.0000
1:67169339:TAG:T	acceptor_loss	1.0000
1:67169341:G:A	acceptor_loss	1.0000
1:67182956:AGAGG:A	donor_loss	1.0000
1:67182957:GAG:G	donor_gain	1.0000
1:67182957:GAGG:G	donor_loss	1.0000
1:67182958:AGG:A	donor_loss	1.0000
1:67182959:GGTA:G	donor_loss	1.0000
1:67182960:G:A	donor_loss	1.0000
1:67182961:T:A	donor_loss	1.0000
1:67200735:A:G	acceptor_gain	1.0000
1:67227130:C:CT	acceptor_gain	1.0000
1:67227130:C:T	acceptor_gain	1.0000
1:67093897:T:C	donor_gain	0.9900
1:67115460:CATGC:C	acceptor_gain	0.9900
1:67115465:C:CC	acceptor_gain	0.9900
1:67125750:A:AC	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000096364 (1:67113470 A>G,T), RS1000112841 (1:67131958 T>A,C), RS1000197812 (1:67114710 C>T), RS1000252111 (1:67108162 T>G), RS1000304300 (1:67107924 T>C), RS1000441138 (1:67102625 G>T), RS1000477851 (1:67125980 G>C), RS1000495962 (1:67112985 G>A,T), RS1000506754 (1:67130766 C>T), RS1000519383 (1:67121004 T>G), RS1000608769 (1:67136932 T>C), RS1000668686 (1:67138336 G>C), RS1000701840 (1:67124640 G>A), RS1000743537 (1:67137863 G>A), RS1000764599 (1:67126107 T>C)

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

10 associations (top):

Study	Trait	p-value
GCST001438_1	Crohn’s disease	1.000000e-18
GCST002562_1	Vogt-Koyanagi-Harada syndrome	3.000000e-21
GCST003270_4	Psoriatic arthritis	3.000000e-12
GCST004125_9	Type 2 diabetes (age of onset)	5.000000e-06
GCST004131_16	Inflammatory bowel disease	5.000000e-111
GCST004132_7	Crohn’s disease	6.000000e-93
GCST004133_2	Ulcerative colitis	4.000000e-41
GCST009391_25	Metabolite levels	8.000000e-06
GCST012207_1	Shigella-associated diarrhea	9.000000e-06
GCST012488_30	L1-L4 bone mineral density x serum urate levels interaction	9.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007701	spine bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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

Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): psoriatic arthritis, shigellosis, Vogt-Koyanagi-Harada disease