CT47C1

Summary

CT47C1 (cancer/testis antigen family 47 member C1, HGNC:53820) is a protein-coding gene on chromosome Xq24, encoding Cancer/testis antigen family 47 member C1 (A0A0U1RQG5).

At a glance

• MANE Select transcript: NM_001396132

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53820
Approved symbol	CT47C1
Name	cancer/testis antigen family 47 member C1
Location	Xq24
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000277535
Ensembl biotype	protein_coding
Entrez	727838

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000620151

RefSeq mRNA: 1 — MANE Select: NM_001396132 NM_001396132

CCDS: CCDS94658

Canonical transcript exons

ENST00000620151 — 3 exons

Exon	Start	End
ENSE00003722767	119072993	119074078
ENSE00003727816	119074960	119075112
ENSE00003787694	119076233	119076765

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 71.42.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	71.42	gold quality
testis	UBERON:0000473	69.44	gold quality
left testis	UBERON:0004533	69.40	gold quality
sural nerve	UBERON:0015488	63.51	gold quality
bone marrow cell	CL:0002092	38.75	gold quality
ganglionic eminence	UBERON:0004023	37.46	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.99	gold quality
endometrium	UBERON:0001295	35.94	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	33.07	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
liver	UBERON:0002107	30.50	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right uterine tube	UBERON:0001302	29.71	gold quality
prefrontal cortex	UBERON:0000451	29.39	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	27.96	gold quality
islet of Langerhans	UBERON:0000006	27.70	gold quality
lymph node	UBERON:0000029	27.57	gold quality
muscle of leg	UBERON:0001383	27.13	gold quality
tonsil	UBERON:0002372	27.05	gold quality
prostate gland	UBERON:0002367	27.01	silver quality
uterine cervix	UBERON:0000002	26.99	gold quality
urinary bladder	UBERON:0001255	26.89	gold quality
fallopian tube	UBERON:0003889	26.88	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gastrocnemius	UBERON:0001388	26.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.81

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (13): CT47A10 (ENSG00000224089), CT47A6 (ENSG00000226023), CT47A9 (ENSG00000226600), CT47A12 (ENSG00000226685), CT47A11 (ENSG00000226929), CT47A7 (ENSG00000228517), CT47A8 (ENSG00000230347), CT47A4 (ENSG00000230594), CT47A3 (ENSG00000236126), CT47A1 (ENSG00000236371), CT47B1 (ENSG00000236446), CT47A5 (ENSG00000237957), CT47A2 (ENSG00000242362)

Protein

Protein identifiers

Cancer/testis antigen family 47 member C1 — A0A0U1RQG5 (reviewed: A0A0U1RQG5)

All UniProt accessions (1): A0A0U1RQG5

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the CT47 family.

RefSeq proteins (1): NP_001383061* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028930	CT47	Family

Pfam: PF15623

UniProt features (7 total): region of interest 3, compositionally biased region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A0U1RQG5-F1	52.46	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chrXq24

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RQG5, A1L429, A6NDE8, A6NER3, A6NGK3, E1AZ71, O08664, O60829, O75459, O76087, P0C2W7, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P52651, P62521, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q17QW4, Q28181, Q2T9P9, Q32PA2, Q4V321, Q4V326, Q5JQC4, Q5U2Y8, Q62100, Q63803, Q64256, Q6NT46, Q6X7S9, Q7Z2X7

Diamond homologs: A0A0U1RQG5, P0C2W7, Q5JQC4

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

418 predictions. Top by Δscore:

Variant	Effect	Δscore
X:119074927:T:TA	acceptor_gain	1.0000
X:119074060:G:GT	donor_gain	0.9900
X:119074952:C:CA	acceptor_gain	0.9900
X:119074956:A:AG	acceptor_gain	0.9900
X:119074957:A:G	acceptor_gain	0.9900
X:119074959:GAA:G	acceptor_gain	0.9900
X:119074077:GG:G	donor_gain	0.9800
X:119074078:GG:G	donor_gain	0.9800
X:119074866:G:GC	acceptor_gain	0.9600
X:119074958:A:AG	acceptor_gain	0.9600
X:119074959:G:GG	acceptor_gain	0.9600
X:119074030:G:GT	donor_gain	0.9300
X:119074923:T:G	acceptor_gain	0.9300
X:119074075:GAGG:G	donor_gain	0.9200
X:119074076:AGGGT:A	donor_loss	0.9100
X:119074079:GTGAG:G	donor_loss	0.9100
X:119074080:T:TG	donor_loss	0.9100
X:119074081:GAG:G	donor_loss	0.9100
X:119074937:ATCT:A	acceptor_gain	0.9100
X:119074045:G:GT	donor_gain	0.9000
X:119074082:AGGAA:A	donor_loss	0.9000
X:119074865:TG:T	acceptor_gain	0.9000
X:119074959:GAAGT:G	acceptor_gain	0.8900
X:119074079:G:GG	donor_gain	0.8800
X:119074919:T:TA	acceptor_gain	0.8800
X:119074176:TGGTG:T	donor_gain	0.8600
X:119074938:T:G	acceptor_gain	0.8600
X:119076161:A:AG	acceptor_gain	0.8600
X:119076162:G:GG	acceptor_gain	0.8600
X:119074083:G:C	donor_loss	0.8500

AlphaMissense

2120 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:119073595:T:C	F124L	0.949
X:119073597:T:A	F124L	0.949
X:119073597:T:G	F124L	0.949
X:119073607:T:C	F128L	0.944
X:119073609:T:A	F128L	0.944
X:119073609:T:G	F128L	0.944
X:119073653:A:T	D143V	0.929
X:119073608:T:C	F128S	0.923
X:119073659:T:C	I145T	0.919
X:119073620:T:A	V132D	0.907
X:119073596:T:C	F124S	0.903
X:119073629:T:C	L135P	0.895
X:119073641:T:C	I139T	0.883
X:119073653:A:C	D143A	0.879
X:119073650:A:T	N142I	0.865
X:119073632:T:C	L136P	0.862
X:119074988:G:C	W294C	0.862
X:119074988:G:T	W294C	0.862
X:119073641:T:G	I139S	0.857
X:119073654:C:A	D143E	0.842
X:119073654:C:G	D143E	0.842
X:119073659:T:G	I145S	0.838
X:119073657:C:A	H144Q	0.834
X:119073657:C:G	H144Q	0.834
X:119073608:T:G	F128C	0.833
X:119073625:T:C	S134P	0.813
X:119073596:T:G	F124C	0.809
X:119073632:T:A	L136H	0.803
X:119073638:G:C	R138P	0.802
X:119073651:C:A	N142K	0.792

dbSNP variants (sampled 300 via entrez): RS1000416621 (X:119072035 T>C), RS1001358732 (X:119074334 A>G), RS1001831209 (X:119074004 C>T), RS1002429381 (X:119076447 C>T), RS1002872283 (X:119075837 T>C), RS1004005163 (X:119076377 A>T), RS1006948568 (X:119072800 A>C), RS1007903478 (X:119074515 CA>C), RS1009844401 (X:119074050 G>A,C), RS1010847469 (X:119076549 C>A), RS1012705184 (X:119071911 G>A), RS1013719108 (X:119073968 C>T), RS1013888646 (X:119071732 C>A,T), RS1014075828 (X:119073578 G>A), RS1016848013 (X:119071817 G>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)

Clinical trials (associated diseases)

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