C1orf210

Summary

C1orf210 (chromosome 1 open reading frame 210, HGNC:28755) is a protein-coding gene on chromosome 1p34.2, encoding Type III endosome membrane protein TEMP (Q8IVY1). May be involved in membrane trafficking between endosomes and plasma membrane.

Predicted to be located in early endosome; plasma membrane; and recycling endosome.

Source: NCBI Gene 149466 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 6 total — 1 pathogenic
• MANE Select transcript: NM_182517

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28755
Approved symbol	C1orf210
Name	chromosome 1 open reading frame 210
Location	1p34.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC52423, TEMP
Ensembl gene	ENSG00000253313
Ensembl biotype	protein_coding
OMIM	620582
Entrez	149466

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 10 protein_coding

ENST00000423420, ENST00000523677, ENST00000851342, ENST00000851343, ENST00000851344, ENST00000851345, ENST00000851346, ENST00000922974, ENST00000922975, ENST00000922976

RefSeq mRNA: 2 — MANE Select: NM_182517 NM_001164829, NM_182517

CCDS: CCDS481

Canonical transcript exons

ENST00000523677 — 3 exons

Exon	Start	End
ENSE00002101569	43281877	43283107
ENSE00002207562	43285444	43285581
ENSE00002252496	43283252	43283368

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 96.96.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7636 / max 131.2678, expressed in 410 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12029	2.4175	404
12030	0.3227	205
12031	0.0234	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	96.96	gold quality
mucosa of transverse colon	UBERON:0004991	95.33	gold quality
secondary oocyte	CL:0000655	94.07	gold quality
rectum	UBERON:0001052	89.48	gold quality
lower esophagus mucosa	UBERON:0035834	89.47	gold quality
jejunal mucosa	UBERON:0000399	88.03	gold quality
duodenum	UBERON:0002114	87.94	gold quality
body of pancreas	UBERON:0001150	86.51	gold quality
pancreas	UBERON:0001264	84.34	gold quality
islet of Langerhans	UBERON:0000006	84.30	gold quality
left lobe of thyroid gland	UBERON:0001120	84.07	gold quality
right lobe of thyroid gland	UBERON:0001119	83.70	gold quality
adult mammalian kidney	UBERON:0000082	83.59	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.88	gold quality
minor salivary gland	UBERON:0001830	82.87	gold quality
thyroid gland	UBERON:0002046	82.63	gold quality
metanephros cortex	UBERON:0010533	82.50	gold quality
saliva-secreting gland	UBERON:0001044	82.32	gold quality
esophagus mucosa	UBERON:0002469	82.28	gold quality
transverse colon	UBERON:0001157	81.66	gold quality
skin of leg	UBERON:0001511	81.48	gold quality
palpebral conjunctiva	UBERON:0001812	81.38	gold quality
colonic mucosa	UBERON:0000317	81.34	gold quality
skin of abdomen	UBERON:0001416	80.89	gold quality
mouth mucosa	UBERON:0003729	80.61	gold quality
gall bladder	UBERON:0002110	80.28	gold quality
zone of skin	UBERON:0000014	79.11	gold quality
small intestine Peyer’s patch	UBERON:0003454	78.69	gold quality
small intestine	UBERON:0002108	78.65	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting C1orf210, 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-3646	100.00	73.56	5283
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-548AV-3P	99.43	68.50	1721
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-3945	98.68	64.21	553
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-31-5P	98.58	68.35	1239
HSA-MIR-3187-5P	98.36	65.74	1776
HSA-MIR-340-3P	98.11	68.25	679
HSA-MIR-6827-3P	98.08	72.27	651
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-1285-3P	97.72	67.02	1932
HSA-MIR-5189-5P	97.72	66.96	1814
HSA-MIR-3144-5P	97.64	65.45	646

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	2610528J11Rik	ENSMUSG00000028536
rattus_norvegicus	C5h1orf210	ENSRNOG00000020259

Protein

Protein identifiers

Type III endosome membrane protein TEMP — Q8IVY1 (reviewed: Q8IVY1)

All UniProt accessions (1): Q8IVY1

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in membrane trafficking between endosomes and plasma membrane.

Subcellular location. Membrane. Early endosome. Recycling endosome. Cell membrane.

RefSeq proteins (2): NP_001158301, NP_872323* (*=MANE)

Domains & families (InterPro)

UniProt features (9 total): topological domain 2, region of interest 2, chain 1, transmembrane region 1, compositionally biased region 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVY1-F1	64.54	0.15

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 68 (showing top): MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, chr1p34, HNF4_01, TGANTCA_AP1_C, MYOD_Q6, GOCC_RECYCLING_ENDOSOME, SCGGAAGY_ELK1_02, HEB_Q6, YOSHIMURA_MAPK8_TARGETS_UP, HNF4ALPHA_Q6, ELK1_02, MCBRYAN_PUBERTAL_BREAST_4_5WK_UP, AR_Q6, MIKKELSEN_ES_LCP_WITH_H3K4ME3, MARTENS_TRETINOIN_RESPONSE_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (5): early endosome (GO:0005769), plasma membrane (GO:0005886), recycling endosome (GO:0055037), endosome (GO:0005768), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endosome	2
membrane	1
cell periphery	1
endomembrane system	1
cytoplasmic vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

398 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1orf210	GARIN5B	Q8N5Q1	583
C1orf210	WDR72	Q3MJ13	421
C1orf210	SOWAHB	A6NEL2	420
C1orf210	BTBD10	Q9BSF8	408
C1orf210	C14orf132	Q9NPU4	400
C1orf210	GPN2	Q9H9Y4	399
C1orf210	CCDC177	Q9NQR7	378
C1orf210	SEPTIN8	Q92599	364
C1orf210	GFPT2	O94808	330
C1orf210	ENAM	Q9NRM1	322
C1orf210	BOD1L2	Q8IYS8	316
C1orf210	RARS2	Q5T160	306
C1orf210	ZBED8L	Q8TCP9	306
C1orf210	MS4A8	Q9BY19	305
C1orf210	CCT8L2	Q96SF2	279

IntAct

4 interactions, top by confidence:

A	B	Type	Score
C1orf210	IPO7	psi-mi:“MI:0914”(association)	0.350
C1orf210	SPAG9	psi-mi:“MI:0914”(association)	0.350

BioGRID (29): IPO7 (Affinity Capture-MS), TMEM126A (Affinity Capture-MS), PTPN1 (Affinity Capture-MS), LMBR1 (Affinity Capture-MS), SNX30 (Affinity Capture-MS), CMTM6 (Affinity Capture-MS), FBXW11 (Affinity Capture-MS), BTRC (Affinity Capture-MS), SLMAP (Affinity Capture-MS), UBE4A (Affinity Capture-MS), ZDHHC3 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), ZDHHC7 (Affinity Capture-MS), SLC9A1 (Affinity Capture-MS), BCAP31 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1

Diamond homologs: Q8IVY1, Q9CQM1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3247992	NC_000001.10:g.(?42922237)(43916151_?)del	Pathogenic

SpliceAI

633 predictions. Top by Δscore:

Variant	Effect	Δscore
1:43283108:C:CC	acceptor_gain	0.9900
1:43283250:A:AC	donor_gain	0.9900
1:43283251:C:CC	donor_gain	0.9900
1:43283106:TG:T	acceptor_gain	0.9800
1:43283105:GTG:G	acceptor_gain	0.9700
1:43283366:GTCC:G	acceptor_loss	0.9700
1:43283367:TCCT:T	acceptor_loss	0.9700
1:43283369:C:CG	acceptor_loss	0.9700
1:43283370:T:A	acceptor_loss	0.9700
1:43285442:AC:A	donor_gain	0.9700
1:43285443:CC:C	donor_gain	0.9700
1:43283104:AGTG:A	acceptor_gain	0.9600
1:43283104:AGTGC:A	acceptor_loss	0.9600
1:43283105:GTGC:G	acceptor_loss	0.9600
1:43283106:TGC:T	acceptor_loss	0.9600
1:43283107:GCT:G	acceptor_loss	0.9600
1:43283108:C:A	acceptor_loss	0.9600
1:43283109:T:A	acceptor_loss	0.9600
1:43285442:ACC:A	donor_gain	0.9600
1:43285443:CCC:C	donor_gain	0.9600
1:43283110:G:C	acceptor_loss	0.9500
1:43283367:TC:T	acceptor_gain	0.9500
1:43283368:CC:C	acceptor_gain	0.9500
1:43283369:C:CC	acceptor_gain	0.9500
1:43284094:A:AC	donor_gain	0.9500
1:43285438:ACCT:A	donor_loss	0.9400
1:43285439:CCTA:C	donor_loss	0.9400
1:43285440:CTA:C	donor_loss	0.9400
1:43285441:TA:T	donor_loss	0.9400
1:43285442:A:AC	donor_gain	0.9400

AlphaMissense

715 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:43282860:G:C	F89L	0.995
1:43282860:G:T	F89L	0.995
1:43282862:A:G	F89L	0.995
1:43282848:A:C	N93K	0.981
1:43282848:A:T	N93K	0.981
1:43282852:T:A	D92V	0.980
1:43282861:A:G	F89S	0.977
1:43282858:A:T	I90N	0.974
1:43282853:C:G	D92H	0.972
1:43282852:T:G	D92A	0.971
1:43282861:A:C	F89C	0.971
1:43282851:G:C	D92E	0.965
1:43282851:G:T	D92E	0.965
1:43282843:A:G	I95T	0.959
1:43283009:C:G	G40R	0.951
1:43283009:C:T	G40R	0.951
1:43282858:A:C	I90S	0.950
1:43282854:C:A	E91D	0.949
1:43282854:C:G	E91D	0.949
1:43282855:T:A	E91V	0.946
1:43283020:C:T	G36E	0.938
1:43283021:C:G	G36R	0.933
1:43283021:C:T	G36R	0.933
1:43282843:A:C	I95S	0.930
1:43282843:A:T	I95N	0.930
1:43282849:T:A	N93I	0.929
1:43283005:G:T	A41D	0.928
1:43282865:C:G	G88R	0.926
1:43282862:A:C	F89V	0.925
1:43282981:G:T	A49E	0.924

dbSNP variants (sampled 300 via entrez): RS1000224638 (1:43285788 C>A,G,T), RS1000250240 (1:43286602 C>A,G), RS1000607020 (1:43286791 G>A), RS1000671601 (1:43287171 G>C), RS1001261896 (1:43281465 T>C), RS1001380824 (1:43287174 A>T), RS1001832410 (1:43282098 C>A,T), RS1002618136 (1:43282179 C>T), RS1004458393 (1:43285471 T>C), RS1004717257 (1:43287606 C>T), RS1004791731 (1:43286539 G>A,C), RS1005132206 (1:43287211 C>T), RS1005295665 (1:43281411 A>C), RS1005729659 (1:43282448 G>A), RS1006517695 (1:43287658 C>T)

Disease associations

OMIM: gene MIM:620582 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST010696_6	Cortical thickness (min-P)	3.000000e-08
GCST010697_32	Cortical surface area (min-P)	4.000000e-08
GCST010698_63	Subcortical volume (min-P)	3.000000e-09
GCST010699_87	Brain morphology (min-P)	9.000000e-14
GCST010700_24	Cortical thickness (MOSTest)	1.000000e-10
GCST010701_5	Cortical surface area (MOSTest)	1.000000e-08
GCST010702_132	Subcortical volume (MOSTest)	8.000000e-15
GCST010703_201	Brain morphology (MOSTest)	1.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, decreases expression	3
mercuric bromide	increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
bisphenol A	affects cotreatment, decreases methylation	1
decabromobiphenyl ether	affects expression	1
3,4-dichloroaniline	increases expression	1
aflatoxin B2	decreases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Diethylhexyl Phthalate	increases expression	1
Diuron	increases expression	1
Nickel	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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