C1orf232

Summary

C1orf232 (chromosome 1 open reading frame 230, HGNC:53426) is a protein-coding gene on chromosome 1p36.11, encoding Uncharacterized protein C1orf232 (A0A0U1RR37).

At a glance

• MANE Select transcript: NM_001364669

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53426
Approved symbol	C1orf232
Name	chromosome 1 open reading frame 230
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000282872
Ensembl biotype	protein_coding
Entrez	110806296

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000634842, ENST00000635463

RefSeq mRNA: 2 — MANE Select: NM_001364669 NM_001364667, NM_001364669

CCDS: CCDS90888, CCDS90889

Canonical transcript exons

ENST00000634842 — 4 exons

Exon	Start	End
ENSE00003786111	26164101	26164455
ENSE00003789368	26165826	26165923
ENSE00003789814	26166035	26166118
ENSE00003900964	26168416	26168963

Expression profiles

Bgee: expression breadth broad, 29 present calls, max score 79.38.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.38	gold quality
ganglionic eminence	UBERON:0004023	44.12	gold quality
pituitary gland	UBERON:0000007	41.93	gold quality
adenohypophysis	UBERON:0002196	40.14	gold quality
hypothalamus	UBERON:0001898	39.55	gold quality
sural nerve	UBERON:0015488	38.44	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
apex of heart	UBERON:0002098	37.03	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
skeletal muscle tissue	UBERON:0001134	35.77	gold quality
right uterine tube	UBERON:0001302	34.24	gold quality
muscle tissue	UBERON:0002385	32.82	gold quality
prefrontal cortex	UBERON:0000451	32.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
right hemisphere of cerebellum	UBERON:0014890	31.48	gold quality
fallopian tube	UBERON:0003889	30.68	gold quality
islet of Langerhans	UBERON:0000006	30.60	gold quality
temporal lobe	UBERON:0001871	30.58	silver quality
amygdala	UBERON:0001876	30.56	silver quality
substantia nigra	UBERON:0002038	30.17	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
placenta	UBERON:0001987	29.69	gold quality
brain	UBERON:0000955	29.41	gold quality
right testis	UBERON:0004534	29.01	silver quality
frontal cortex	UBERON:0001870	28.75	gold quality
monocyte	CL:0000576	28.54	silver quality
leukocyte	CL:0000738	28.46	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.57

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	C16H1orf232	ENSDARG00000103312
mus_musculus	Gm30191	ENSMUSG00000108398
rattus_norvegicus	C5h1orf232	ENSRNOG00000054734

Protein

Protein identifiers

Uncharacterized protein C1orf232 — A0A0U1RR37 (reviewed: A0A0U1RR37)

All UniProt accessions (2): A0A0U1RR37, A0A0U1RQR0

RefSeq proteins (2): NP_001351596, NP_001351598* (*=MANE)

Domains & families (InterPro)

UniProt features (6 total): region of interest 3, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A0U1RR37-F1	64.03	0.05

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): chr1p36, SMN1_SMN2_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

86 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf232	EDDM13	A0A1B0GTR0	829
C1orf232	CCDC201	A0A1B0GTI1	786
C1orf232	SMIM36	A0A1B0GVT2	772
C1orf232	C10orf143	A0A1B0GUT2	769
C1orf232	SMIM41	A0A2R8YCJ5	662
C1orf232	TMDD1	P0DPE3	644
C1orf232	SMIM38	A0A286YFK9	643
C1orf232	SCYGR7	A0A286YF01	642
C1orf232	FAM240C	A0A1B0GVR7	621
C1orf232	SMIM28	A0A1B0GU29	574
C1orf232	ETDA	Q3ZM63	529
C1orf232	ETDC	A0A1B0GVM5	527
C1orf232	SCYGR1	A0A286YEY9	480
C1orf232	SMIM31	A0A1B0GVY4	478
C1orf232	BTBD8	Q5XKL5	444

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RR37, A1L170, A1L1I3, A1L260, A2AMM0, A4IFJ0, B5G1P1, D3ZQL6, E7F5E1, G5BQH4, O08919, O54724, O60237, O75420, P06759, P33622, P53814, P85125, Q2KI85, Q2TAL5, Q3T044, Q3UMT1, Q4RTJ5, Q4V882, Q5I1X5, Q5U2R6, Q63312, Q6NZI2, Q75AS0, Q80VC9, Q8BG95, Q8BGT6, Q8C0J6, Q8CI12, Q8IV56, Q8K382, Q8N3F8, Q8TEH3, Q8WUF5, Q91VJ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1000 predictions. Top by Δscore:

Variant	Effect	Δscore
1:26166027:ATACT:A	donor_loss	1.0000
1:26166029:ACT:A	donor_loss	1.0000
1:26166030:CTC:C	donor_loss	1.0000
1:26166031:TCACC:T	donor_loss	1.0000
1:26166032:CACCC:C	donor_loss	1.0000
1:26166033:A:T	donor_loss	1.0000
1:26166034:C:CT	donor_loss	1.0000
1:26166115:CCCT:C	acceptor_gain	1.0000
1:26166116:CCTC:C	acceptor_gain	1.0000
1:26166119:C:CC	acceptor_gain	1.0000
1:26168411:CCCA:C	donor_loss	1.0000
1:26168412:CCA:C	donor_loss	1.0000
1:26168413:CA:C	donor_loss	1.0000
1:26168414:ACCT:A	donor_gain	1.0000
1:26168415:C:T	donor_loss	1.0000
1:26168415:CCTC:C	donor_gain	1.0000
1:26168417:T:TA	donor_gain	1.0000
1:26165825:CTGGT:C	donor_gain	0.9900
1:26165859:T:C	donor_gain	0.9900
1:26166033:A:AC	donor_gain	0.9900
1:26166033:AC:A	donor_gain	0.9900
1:26166034:C:CC	donor_gain	0.9900
1:26166034:CC:C	donor_gain	0.9900
1:26166034:CCCGG:C	donor_gain	0.9900
1:26166114:TCCCT:T	acceptor_gain	0.9900
1:26166115:CCCTC:C	acceptor_gain	0.9900
1:26166117:CT:C	acceptor_gain	0.9900
1:26166117:CTCTG:C	acceptor_loss	0.9900
1:26166120:T:A	acceptor_loss	0.9900
1:26165801:C:CT	donor_gain	0.9800

AlphaMissense

1199 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:26165877:A:G	F72S	0.994
1:26168470:C:A	K10N	0.994
1:26168470:C:G	K10N	0.994
1:26164203:T:A	K173N	0.993
1:26164203:T:G	K173N	0.993
1:26165899:A:G	W65R	0.993
1:26165899:A:T	W65R	0.993
1:26168475:A:C	Y9D	0.992
1:26164389:C:A	W111C	0.990
1:26164389:C:G	W111C	0.990
1:26164391:A:G	W111R	0.990
1:26164391:A:T	W111R	0.990
1:26165876:A:C	F72L	0.990
1:26165876:A:T	F72L	0.990
1:26165878:A:G	F72L	0.990
1:26168484:A:G	W6R	0.990
1:26168484:A:T	W6R	0.990
1:26164221:C:A	W167C	0.989
1:26164221:C:G	W167C	0.989
1:26164223:A:G	W167R	0.989
1:26164223:A:T	W167R	0.989
1:26168482:C:A	W6C	0.989
1:26168482:C:G	W6C	0.989
1:26165897:C:A	W65C	0.987
1:26165897:C:G	W65C	0.987
1:26166042:G:T	A54D	0.983
1:26165922:A:T	V57D	0.981
1:26164381:A:G	F114S	0.978
1:26164204:T:A	K173I	0.977
1:26164227:G:C	F165L	0.977

dbSNP variants (sampled 300 via entrez): RS1000438754 (1:26169162 A>G), RS1000805880 (1:26167270 G>A), RS1000874576 (1:26165815 C>T), RS1001791870 (1:26168450 A>G), RS1001807789 (1:26165727 C>A,G,T), RS1001851921 (1:26164108 C>A), RS1001883102 (1:26164269 T>C), RS1002445938 (1:26166149 A>C), RS1002845575 (1:26164464 G>A), RS1003442049 (1:26170564 C>G), RS1003735510 (1:26166917 T>C), RS1003898353 (1:26164741 G>C), RS1004469757 (1:26164969 G>A), RS1004769474 (1:26166110 G>A), RS1004842050 (1:26164626 G>A)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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