CT55 cancer/testis antigen 55 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CT55provided by HGNC
Official Full Name: cancer/testis antigen 55provided by HGNC
Primary source: HGNC:HGNC:26047
See related: Ensembl:ENSG00000169551 MIM:301105; AllianceGenome:HGNC:26047
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPGFX7; CXorf48; BJHCC20A
Summary: Involved in spermatogenesis. Located in acrosomal vesicle and sperm flagellum. Implicated in X-linked spermatogenic failure 7. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 1.5) See more
Orthologs: all
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Genomic context

Location:: Xq26.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (135156536..135171827, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (133482335..133497625, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (134290461..134305751, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deficiency of cancer/testis antigen gene CT55 causes male infertility in humans and mice.
Title: Deficiency of cancer/testis antigen gene CT55 causes male infertility in humans and mice.
the relapse rate of CXorf48-specific CTL-negative patients was 63.6%, compared to 0% in CXorf48-specific CTL-positive patients. These results indicate that CXorf48 could be a promising therapeutic target of LSCs for immunotherapy to obtain durable treatment-free remission in CML patients.
Title: CXorf48 is a potential therapeutic target for achieving treatment-free remission in CML patients.
A novel BRCA2-interacting protein, BJ-HCC-20A, which is reported to be a potential cancer-testis antigen, was identified.
Title: Novel BRCA2-interacting protein BJ-HCC-20A inhibits the induction of apoptosis in response to DNA damage.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure, X-linked, 7 MedGen: C5829567 OMIM: 301106 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11212 (e-PCR)
- UniSTS:36360

DXS1355 (e-PCR)
- UniSTS:99196

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cancer/testis antigen 55

Names: BRCA2-interacting protein; tumor antigen BJ-HCC-20

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001031705.3 → NP_001026875.1 cancer/testis antigen 55 isoform 1

See identical proteins and their annotated locations for NP_001026875.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer isoform (1).

Source sequence(s)

AF520814, AY352211

Consensus CDS

CCDS35400.1

UniProtKB/Swiss-Prot

Q8WUE5, Q9NWY8

Related

ENSP00000276241.6, ENST00000276241.11

Conserved Domains (1) summary

pfam14444
Location:182 → 233

S1-like; S1-like
NM_017863.2 → NP_060333.1 cancer/testis antigen 55 isoform 2

See identical proteins and their annotated locations for NP_060333.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the C-terminus compared to isoform 1.

Source sequence(s)

AY352211

Consensus CDS

CCDS14647.1

UniProtKB/Swiss-Prot

Q8WUE5

Related

ENSP00000343893.2, ENST00000344129.2

Conserved Domains (1) summary

pfam14444
Location:182 → 233

S1-like; S1-like