C1orf162

Summary

C1orf162 (chromosome 1 open reading frame 162, HGNC:28344) is a protein-coding gene on chromosome 1p13.2, encoding Transmembrane protein C1orf162 (Q8NEQ5).

Predicted to be located in membrane.

Source: NCBI Gene 128346 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_001300834

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28344
Approved symbol	C1orf162
Name	chromosome 1 open reading frame 162
Location	1p13.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC24133
Ensembl gene	ENSG00000143110
Ensembl biotype	protein_coding
Entrez	128346

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000343534, ENST00000369718, ENST00000464591, ENST00000868017, ENST00000868018, ENST00000868019

RefSeq mRNA: 3 — MANE Select: NM_001300834 NM_001300834, NM_001300835, NM_174896

CCDS: CCDS72837, CCDS837

Canonical transcript exons

ENST00000369718 — 6 exons

Exon	Start	End
ENSE00000958162	111476798	111476867
ENSE00000958163	111477334	111477428
ENSE00001402625	111477726	111477775
ENSE00001450713	111476018	111476065
ENSE00001450715	111473984	111474030
ENSE00001938048	111477983	111478512

Expression profiles

Bgee: expression breadth ubiquitous, 219 present calls, max score 99.35.

FANTOM5 (CAGE): breadth broad, TPM avg 33.4432 / max 1422.7660, expressed in 516 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4637	31.7518	513
4636	1.6647	361
4638	0.0267	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.35	gold quality
monocyte	CL:0000576	99.21	gold quality
leukocyte	CL:0000738	99.21	gold quality
spleen	UBERON:0002106	97.97	gold quality
right lung	UBERON:0002167	97.96	gold quality
blood	UBERON:0000178	97.87	gold quality
vermiform appendix	UBERON:0001154	97.05	gold quality
bone marrow	UBERON:0002371	95.71	gold quality
upper lobe of left lung	UBERON:0008952	95.46	gold quality
upper lobe of lung	UBERON:0008948	95.08	gold quality
lymph node	UBERON:0000029	95.06	gold quality
trabecular bone tissue	UBERON:0002483	93.85	gold quality
bone marrow cell	CL:0002092	93.74	gold quality
omental fat pad	UBERON:0010414	93.22	gold quality
peritoneum	UBERON:0002358	93.14	gold quality
descending thoracic aorta	UBERON:0002345	92.68	gold quality
lower lobe of lung	UBERON:0008949	92.65	gold quality
left coronary artery	UBERON:0001626	92.64	gold quality
gall bladder	UBERON:0002110	92.37	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.37	gold quality
mucosa of stomach	UBERON:0001199	92.05	gold quality
left uterine tube	UBERON:0001303	91.75	gold quality
lung	UBERON:0002048	91.50	gold quality
coronary artery	UBERON:0001621	91.35	gold quality
right uterine tube	UBERON:0001302	91.13	gold quality
tibial nerve	UBERON:0001323	91.02	gold quality
right coronary artery	UBERON:0001625	90.84	gold quality
thoracic aorta	UBERON:0001515	90.69	gold quality
right adrenal gland cortex	UBERON:0035827	90.67	gold quality
ascending aorta	UBERON:0001496	90.46	gold quality

Single-cell (SCXA)

Detected in 21 experiment(s), a significant marker in 21.

Experiment	Marker?	Max mean expression
E-MTAB-7381	yes	492.97
E-HCAD-1	yes	89.29
E-HCAD-4	yes	78.05
E-GEOD-135922	yes	66.61
E-MTAB-8410	yes	51.51
E-MTAB-10553	yes	47.60
E-CURD-46	yes	40.54
E-HCAD-10	yes	35.69
E-MTAB-6701	yes	35.23
E-CURD-122	yes	33.84
E-GEOD-134144	yes	33.80
E-HCAD-9	yes	29.80
E-MTAB-9221	yes	26.60
E-MTAB-10287	yes	26.14
E-CURD-112	yes	25.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting C1orf162, 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-4283	100.00	66.42	2097
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-3611	98.76	68.76	1290
HSA-MIR-323A-5P	98.59	65.13	651
HSA-MIR-4317	98.49	67.09	987
HSA-MIR-3158-3P	98.45	64.25	560
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-5088-5P	97.97	64.28	487
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-6818-5P	97.50	67.10	1167
HSA-MIR-1287-5P	96.80	65.30	743

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	I830077J02Rik	ENSMUSG00000074342
rattus_norvegicus	C2h1orf162	ENSRNOG00000070434

Protein

Protein identifiers

Transmembrane protein C1orf162 — Q8NEQ5 (reviewed: Q8NEQ5)

All UniProt accessions (1): Q8NEQ5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NEQ5-1	1	yes
Q8NEQ5-2	2

RefSeq proteins (3): NP_001287763, NP_001287764, NP_777556 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037763	C1orf162	Family

UniProt features (8 total): region of interest 2, chain 1, transmembrane region 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NEQ5-F1	65.19	0.14

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): 140

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, LEE_NAIVE_T_LYMPHOCYTE, RICKMAN_METASTASIS_DN, PU1_Q6, RGAGGAARY_PU1_Q6, GREB1_TARGET_GENES, ZNF8_TARGET_GENES, MIR548AZ_5P, MIR548T_5P, MIR4446_3P, GSE13485_CTRL_VS_DAY3_YF17D_VACCINE_PBMC_DN, GSE13485_PRE_VS_POST_YF17D_VACCINATION_PBMC_DN, GSE14000_4H_VS_16H_LPS_DC_TRANSLATED_RNA_UP, BLANCO_MELO_MERS_COV_INFECTION_MCR5_CELLS_UP, FAN_EMBRYONIC_CTX_BRAIN_MYELOID

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

562 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf162	ANKRD13D	Q6ZTN6	373
C1orf162	UNKL	Q9H9P5	370
C1orf162	MANSC1	Q9H8J5	350
C1orf162	SEC14L4	Q9UDX3	348
C1orf162	SLC35E3	Q7Z769	338
C1orf162	FAM72D	Q6L9T8	321
C1orf162	TPRG1	Q6ZUI0	312
C1orf162	NECAB3	Q96P71	305
C1orf162	EPHX4	Q8IUS5	305
C1orf162	TASL	Q9HAI6	305
C1orf162	TSEN15	Q8WW01	304
C1orf162	SLC25A29	Q8N8R3	288
C1orf162	DDX28	Q9NUL7	274
C1orf162	SYNRG	Q9UMZ2	274
C1orf162	ERGIC1	Q969X5	273

IntAct

5 interactions, top by confidence:

A	B	Type	Score
C1orf162	KIAA1143	psi-mi:“MI:0914”(association)	0.530
C1orf162	MBOAT7	psi-mi:“MI:0915”(physical association)	0.400
CFTR	C1orf162	psi-mi:“MI:0915”(physical association)	0.370
C1orf162	CORO1A	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): RNF11 (Affinity Capture-MS), KIAA1143 (Affinity Capture-MS), CRNN (Affinity Capture-MS), C1orf162 (Two-hybrid), C1orf162 (Two-hybrid), CRNN (Affinity Capture-MS), KIAA1143 (Affinity Capture-MS), CORO1A (Affinity Capture-MS), RNF11 (Affinity Capture-MS), MBOAT7 (Affinity Capture-MS), C1orf162 (PCA)

ESM2 similar proteins: A4KWA5, A4KWA6, A4KWA8, A7TZG1, A7TZG3, A7XV14, B1B212, B1B213, B2KG20, O43908, O54709, O70215, O95976, P26715, P26717, P26718, P61252, Q01965, Q07444, Q29RT9, Q3TB92, Q3UU41, Q504P2, Q5DT36, Q5DT37, Q5DT39, Q5M9I1, Q5UKY4, Q60652, Q60654, Q62875, Q6XQ84, Q8BG84, Q8MJH1, Q8N7X8, Q8NEQ5, Q8TDQ0, Q8VIM0, Q925N7, Q95MI1

Diamond homologs: Q3U7U4, Q8NEQ5

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	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

717 predictions. Top by Δscore:

Variant	Effect	Δscore
1:111474028:AAGG:A	donor_loss	1.0000
1:111474029:AGGTA:A	donor_loss	1.0000
1:111474030:GGT:G	donor_loss	1.0000
1:111474031:G:A	donor_loss	1.0000
1:111474032:T:A	donor_loss	1.0000
1:111476868:G:GG	donor_gain	1.0000
1:111477712:T:A	acceptor_gain	1.0000
1:111474026:GAAAG:G	donor_gain	0.9900
1:111477713:G:A	acceptor_gain	0.9900
1:111477716:A:AG	acceptor_gain	0.9900
1:111477716:ACCAT:A	acceptor_gain	0.9900
1:111477981:A:AG	acceptor_gain	0.9900
1:111477982:G:GG	acceptor_gain	0.9900
1:111474217:TGAAA:T	donor_gain	0.9800
1:111476016:A:AG	acceptor_gain	0.9800
1:111476017:G:GG	acceptor_gain	0.9800
1:111476796:A:AG	acceptor_gain	0.9800
1:111476797:G:GG	acceptor_gain	0.9800
1:111477365:G:A	acceptor_gain	0.9800
1:111477717:C:G	acceptor_gain	0.9800
1:111477980:CAGCT:C	acceptor_loss	0.9800
1:111477981:AG:A	acceptor_loss	0.9800
1:111477982:GC:G	acceptor_gain	0.9800
1:111474031:G:GG	donor_gain	0.9700
1:111474218:GAAAA:G	donor_gain	0.9700
1:111474219:AAAAA:A	donor_gain	0.9700
1:111476064:TGGT:T	donor_loss	0.9700
1:111476066:GTGAG:G	donor_loss	0.9700
1:111476067:T:TG	donor_loss	0.9700
1:111476068:GAG:G	donor_loss	0.9700

AlphaMissense

842 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:111477356:T:C	F44L	0.929
1:111477358:T:A	F44L	0.929
1:111477358:T:G	F44L	0.929
1:111477365:G:A	G47R	0.909
1:111477365:G:C	G47R	0.909
1:111477378:C:A	T51K	0.887
1:111477378:C:G	T51R	0.859
1:111478028:T:C	F125L	0.851
1:111478030:C:A	F125L	0.851
1:111478030:C:G	F125L	0.851
1:111477366:G:A	G47E	0.846
1:111477384:T:G	L53R	0.831
1:111477359:T:C	C45R	0.812
1:111477365:G:T	G47W	0.811
1:111477372:T:G	L49R	0.796
1:111477387:T:G	L54R	0.788
1:111477375:T:G	L50R	0.786
1:111477415:G:C	K63N	0.785
1:111477415:G:T	K63N	0.785
1:111477393:C:A	A56D	0.784
1:111477381:T:G	L52R	0.779
1:111477369:T:A	V48D	0.758
1:111477375:T:C	L50P	0.737
1:111477381:T:C	L52P	0.728
1:111477354:C:A	A43D	0.719
1:111477363:C:A	A46D	0.705
1:111477357:T:C	F44S	0.698
1:111477387:T:C	L54P	0.696
1:111477372:T:A	L49Q	0.690
1:111477384:T:A	L53Q	0.682

dbSNP variants (sampled 300 via entrez): RS1001000095 (1:111474309 C>T), RS1001220437 (1:111472729 G>A), RS1002061067 (1:111472104 C>G,T), RS1002553723 (1:111475485 T>C), RS1003498949 (1:111477302 A>G), RS1003592873 (1:111472359 G>A), RS1003666617 (1:111472058 C>T), RS1003823977 (1:111477516 G>A,C), RS1003877208 (1:111478632 A>G), RS1004173626 (1:111478424 G>A,C), RS1005377328 (1:111478596 C>T), RS1005451168 (1:111476965 G>A,C,T), RS1005928586 (1:111473106 A>G,T), RS1006082633 (1:111478885 C>T), RS1006633958 (1:111476439 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cisplatin	increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
aminomethylphosphonic acid (AMPA)	increases expression	1
potassium chromate(VI)	increases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
2,6-dichloro-(1,4)benzoquinone	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Calcitriol	decreases expression	1
Formaldehyde	increases expression	1
Lead	decreases expression	1
Nickel	increases expression	1
Ozone	increases abundance, affects expression	1
Quercetin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Tunicamycin	increases expression	1
2,4-Dichlorophenoxyacetic Acid	increases expression	1
Aflatoxin B1	decreases expression	1
Medroxyprogesterone Acetate	increases expression	1
Sodium Selenite	increases expression	1
Antirheumatic Agents	decreases expression	1
Thapsigargin	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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