C1orf116

Summary

C1orf116 (chromosome 1 open reading frame 116, HGNC:28667) is a protein-coding gene on chromosome 1q32.1, encoding Specifically androgen-regulated gene protein (Q9BW04). Putative androgen-specific receptor.

Located in cytosol and plasma membrane.

Source: NCBI Gene 79098 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_023938

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28667
Approved symbol	C1orf116
Name	chromosome 1 open reading frame 116
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	SARG, FLJ36507, MGC2742, MGC4309
Ensembl gene	ENSG00000182795
Ensembl biotype	protein_coding
OMIM	611680
Entrez	79098

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000359470, ENST00000461135, ENST00000895722, ENST00000938289, ENST00000945944

RefSeq mRNA: 2 — MANE Select: NM_023938 NM_001083924, NM_023938

CCDS: CCDS1475, CCDS44306

Canonical transcript exons

ENST00000359470 — 4 exons

Exon	Start	End
ENSE00001443447	207027494	207027679
ENSE00001686775	207018522	207023480
ENSE00001879330	207032579	207032756
ENSE00003649328	207024887	207025064

Expression profiles

Bgee: expression breadth ubiquitous, 181 present calls, max score 98.64.

FANTOM5 (CAGE): breadth broad, TPM avg 2.9809 / max 105.3374, expressed in 292 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17150	1.3562	210
17152	0.7864	187
17151	0.6125	193
17149	0.0994	72
17148	0.0889	63
17153	0.0376	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	98.64	gold quality
esophagus squamous epithelium	UBERON:0006920	98.36	gold quality
amniotic fluid	UBERON:0000173	98.29	gold quality
tongue squamous epithelium	UBERON:0006919	98.01	gold quality
lower esophagus mucosa	UBERON:0035834	97.97	gold quality
epithelium of esophagus	UBERON:0001976	97.33	gold quality
squamous epithelium	UBERON:0006914	97.27	gold quality
cervix squamous epithelium	UBERON:0006922	96.87	gold quality
palpebral conjunctiva	UBERON:0001812	95.65	gold quality
oral cavity	UBERON:0000167	95.61	gold quality
esophagus mucosa	UBERON:0002469	94.86	gold quality
pharyngeal mucosa	UBERON:0000355	94.71	gold quality
gingiva	UBERON:0001828	94.68	gold quality
gingival epithelium	UBERON:0001949	94.54	gold quality
lower lobe of lung	UBERON:0008949	93.48	gold quality
upper leg skin	UBERON:0004262	91.84	gold quality
visceral pleura	UBERON:0002401	91.37	gold quality
lung	UBERON:0002048	91.00	gold quality
upper arm skin	UBERON:0004263	90.95	gold quality
hair follicle	UBERON:0002073	90.35	gold quality
upper lobe of lung	UBERON:0008948	90.15	gold quality
upper lobe of left lung	UBERON:0008952	89.98	gold quality
cervix epithelium	UBERON:0004801	89.87	gold quality
skin of leg	UBERON:0001511	88.77	gold quality
zone of skin	UBERON:0000014	88.66	gold quality
epithelial cell of pancreas	CL:0000083	88.15	gold quality
skin of abdomen	UBERON:0001416	88.15	gold quality
right lung	UBERON:0002167	88.13	gold quality
islet of Langerhans	UBERON:0000006	87.91	gold quality
mouth mucosa	UBERON:0003729	87.65	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

Upstream regulators (CollecTRI, top): AR

Literature-anchored findings (GeneRIF, showing 1)

• SARG mRNA expression is high in prostate tissue. SARG is composed of four exons and spans a region of 14.5 kbp on chromosome 1q32.2. (PMID:15525603)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:158258	ENSDARG00000070229
danio_rerio	si:ch73-184c24.1	ENSDARG00000074827
mus_musculus	AA986860	ENSMUSG00000042510
rattus_norvegicus	C13h1orf116	ENSRNOG00000004341

Protein

Protein identifiers

Specifically androgen-regulated gene protein — Q9BW04 (reviewed: Q9BW04)

All UniProt accessions (1): Q9BW04

UniProt curated annotations — full annotation on UniProt →

Function. Putative androgen-specific receptor.

Subcellular location. Cytoplasm.

Tissue specificity. Highly expressed in prostate.

Induction. Expression is up-regulated by androgen, but not by glucocorticoids.

Similarity. Belongs to the SARG family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BW04-1	1	yes
Q9BW04-2	2

RefSeq proteins (2): NP_001077393, NP_076427* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026152	SARG	Family

Pfam: PF15385

UniProt features (27 total): compositionally biased region 12, sequence variant 7, region of interest 3, modified residue 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BW04-F1	54.11	0.07

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 (3): 131, 133, 519

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 100 (showing top): BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, MODULE_255, JAEGER_METASTASIS_DN, MODULE_317, AP4_Q6, TGACCTY_ERR1_Q2, HNF1_Q6, CAGCTG_AP4_Q5, ONDER_CDH1_TARGETS_3_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, FREAC3_01, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN

GO Biological Process (0):

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

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
binding	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
extracellular vesicle	1

Protein interactions and networks

STRING

524 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf116	NKX3-1	Q99801	547
C1orf116	OS9	Q13438	543
C1orf116	INIP	Q9NRY2	460
C1orf116	ZNF888	P0CJ79	448
C1orf116	PRR15L	Q9BU68	427
C1orf116	C9orf152	Q5JTZ5	411
C1orf116	PAK1IP1	Q9NWT1	395
C1orf116	H0Y8G9	H0Y8G9	370
C1orf116	HERC3	Q15034	370
C1orf116	C1orf74	Q96LT6	367
C1orf116	MED28	Q9H204	359
C1orf116	PMEPA1	Q969W9	357
C1orf116	KIAA0040	Q15053	354
C1orf116	KLK2	P20151	349
C1orf116	TRIM7	Q9C029	346

IntAct

20 interactions, top by confidence:

A	B	Type	Score
SARG	HOMER1	psi-mi:“MI:0915”(physical association)	0.780
HOMER1	SARG	psi-mi:“MI:0915”(physical association)	0.780
SARG	HOMER3	psi-mi:“MI:0915”(physical association)	0.560
SARG	KRT14	psi-mi:“MI:0915”(physical association)	0.400
SMAD2	FAM83G	psi-mi:“MI:0915”(physical association)	0.400
SMAD3	FAM83G	psi-mi:“MI:0915”(physical association)	0.400
SARG	ECE1	psi-mi:“MI:0915”(physical association)	0.370
ECE1	SARG	psi-mi:“MI:0915”(physical association)	0.370
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
SSUH2	IGLC7	psi-mi:“MI:0914”(association)	0.350
SMPD2	A2ML1	psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
HOMER1	SARG	psi-mi:“MI:0915”(physical association)	0.000
HOMER3	SARG	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (27): C1orf116 (Two-hybrid), C1orf116 (Two-hybrid), C1orf116 (Reconstituted Complex), HOMER1 (Two-hybrid), C1orf116 (Proximity Label-MS), C1orf116 (Affinity Capture-MS), C1orf116 (Proximity Label-MS), C1orf116 (Two-hybrid), C1orf116 (Two-hybrid), C1orf116 (Proximity Label-MS), C1orf116 (Proximity Label-MS), C1orf116 (Affinity Capture-MS), C1orf116 (Affinity Capture-MS), C1orf116 (Affinity Capture-MS), C1orf116 (Co-fractionation)

ESM2 similar proteins: A1L170, A4IFJ0, A5D7K1, A6H7B4, A6NGG8, A6X8Z5, B1AXH1, D3ZMK9, O08696, O14513, O43151, P01099, P10637, P19103, P19332, Q08DN6, Q13522, Q2M1Z3, Q2TBN9, Q571I4, Q58CU6, Q5HYW2, Q5JSZ5, Q5M831, Q5M865, Q60664, Q640N3, Q68DA7, Q6DJE5, Q6PAC4, Q6ZW13, Q7LBC6, Q80U35, Q80U49, Q86YV5, Q8BG87, Q8C3W1, Q8C5R2, Q8C5W0, Q8WYL5

Diamond homologs: A5D7K1, Q499V8, Q8BI29, Q9BW04

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

561 predictions. Top by Δscore:

Variant	Effect	Δscore
1:207027493:CAGAT:C	donor_gain	1.0000
1:207024927:T:TA	donor_gain	0.9900
1:207025060:TCACT:T	acceptor_gain	0.9900
1:207025061:CACT:C	acceptor_gain	0.9900
1:207025061:CACTC:C	acceptor_gain	0.9900
1:207025063:CT:C	acceptor_gain	0.9900
1:207025064:TC:T	acceptor_loss	0.9900
1:207025065:C:CC	acceptor_gain	0.9900
1:207025065:C:T	acceptor_loss	0.9900
1:207025074:T:C	acceptor_gain	0.9900
1:207025074:T:TC	acceptor_gain	0.9900
1:207027492:A:AC	donor_gain	0.9900
1:207027493:C:CC	donor_gain	0.9900
1:207023492:A:T	acceptor_gain	0.9800
1:207024885:AC:A	donor_gain	0.9800
1:207024885:ACC:A	donor_gain	0.9800
1:207024886:CC:C	donor_gain	0.9800
1:207024886:CCC:C	donor_gain	0.9800
1:207025068:T:TC	acceptor_gain	0.9800
1:207027485:A:AC	donor_gain	0.9800
1:207027489:CGTA:C	donor_gain	0.9800
1:207027493:CA:C	donor_gain	0.9800
1:207027493:CAG:C	donor_gain	0.9800
1:207025062:ACT:A	acceptor_gain	0.9700
1:207025063:CTC:C	acceptor_gain	0.9700
1:207025064:TCT:T	acceptor_gain	0.9700
1:207025068:T:C	acceptor_gain	0.9700
1:207025080:T:TC	acceptor_gain	0.9700
1:207025114:G:T	acceptor_gain	0.9700
1:207023477:CCTC:C	acceptor_gain	0.9600

AlphaMissense

3864 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:207021971:A:G	L598P	0.993
1:207022034:A:T	V577D	0.993
1:207022697:A:G	L356P	0.993
1:207022716:C:G	A350P	0.992
1:207025018:A:G	L51P	0.990
1:207022703:A:G	L354P	0.988
1:207021986:A:G	L593P	0.987
1:207025011:G:C	F53L	0.987
1:207025011:G:T	F53L	0.987
1:207025013:A:G	F53L	0.987
1:207025009:A:G	L54P	0.986
1:207022724:C:G	R347P	0.985
1:207021977:A:G	L596P	0.983
1:207021971:A:T	L598Q	0.982
1:207022725:G:T	R347S	0.982
1:207022705:C:A	K353N	0.981
1:207022705:C:G	K353N	0.981
1:207025001:T:G	T57P	0.980
1:207021990:C:G	A592P	0.979
1:207022028:A:G	I579T	0.979
1:207022712:A:G	L351P	0.979
1:207022703:A:T	L354Q	0.975
1:207025009:A:T	L54Q	0.974
1:207025012:A:G	F53S	0.974
1:207022028:A:C	I579S	0.973
1:207022700:C:A	G355V	0.972
1:207023152:G:C	F204L	0.972
1:207023152:G:T	F204L	0.972
1:207023154:A:G	F204L	0.972
1:207022697:A:T	L356Q	0.971

dbSNP variants (sampled 300 via entrez): RS1000029117 (1:207028869 T>C), RS1000776646 (1:207022065 C>A), RS1001413815 (1:207025171 C>T), RS1001538025 (1:207026206 A>T), RS1001616031 (1:207030762 G>A,C), RS1001866850 (1:207023667 A>G), RS1001977493 (1:207029145 T>C), RS1002045476 (1:207030587 T>G), RS1002148906 (1:207034561 A>G), RS1002346483 (1:207029458 T>C), RS1002361975 (1:207030735 G>A), RS1002455634 (1:207026298 C>T), RS1002645275 (1:207031602 C>A), RS1002774570 (1:207019564 A>G), RS1002823019 (1:207030940 G>A)

Disease associations

OMIM: gene MIM:611680 | 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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression	4
bisphenol A	decreases expression, affects cotreatment, increases methylation	2
sodium arsenite	decreases expression, increases expression	2
Resveratrol	affects cotreatment, decreases expression, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
sotorasib	decreases expression, affects cotreatment	1
propionaldehyde	increases expression	1
pyrogallol 1,3-dimethyl ether	affects localization, decreases expression, affects cotreatment	1
2-methyl-4-isothiazolin-3-one	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
enzalutamide	decreases expression	1
jinfukang	increases expression, affects cotreatment	1
NSC 689534	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Calcitriol	increases expression	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C9B3	CLF_PEDS0005_T1	Cancer cell line
CVCL_C9B4	CLF_PEDS0005_T2A	Cancer cell line
CVCL_C9B5	CLF_PEDS0005_T2B	Cancer cell line

Clinical trials (associated diseases)

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