SPANXA1 sperm protein associated with the nucleus, X-linked, family member A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPANXA1provided by HGNC
Official Full Name: sperm protein associated with the nucleus, X-linked, family member A1provided by HGNC
Primary source: HGNC:HGNC:11218
See related: Ensembl:ENSG00000198021 MIM:300305; AllianceGenome:HGNC:11218
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NAP-X; SPANX; CT11.1; CT11.3; SPAN-X; SPAN-Xa; SPAN-Xb; SPANX-A
Summary: Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 14.3) See more
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Genomic context

Location:: Xq27.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (141583674..141584738, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (139892394..139893458, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (140671796..140672860, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Hypomethylated SPANXA1/A2 promotes the metastasis of head and neck squamous cell carcinoma.
Title: Hypomethylated SPANXA1/A2 promotes the metastasis of head and neck squamous cell carcinoma.
Silencing SPANXA increased c-JUN mRNA expression and blockage of c-JUN led to SNAI2 down-regulation. Results clearly characterized SPANXA as an EMT inhibitor by suppressing c-JUN-SNAI2 axis in lung adenocarcinoma.
Title: SPANXA suppresses EMT by inhibiting c-JUN/SNAI2 signaling in lung adenocarcinoma.
High SPANXA expression is associated with breast cancer invasion.
Title: The cancer-testis antigens SPANX-A/C/D and CTAG2 promote breast cancer invasion.
Observational study of gene-disease association. (HuGE Navigator)
Title: SPANX gene variation in fertile and infertile males.
Over expression of SPAN-x protein is associated with nonlymphatic metastatic melanomas
Title: Genomic organization, incidence, and localization of the SPAN-x family of cancer-testis antigens in melanoma tumors and cell lines.
In conclusion, these data suggest that the SpanX protein family is not exclusively expressed post-meiotically and that seminomas and embryonal carcinomas may originate from SpanX-positive carcinoma-in-situ cell.
Title: Expression of SpanX proteins in normal testes and in testicular germ cell tumours.
Multi-gene family; cancer-testis antigen; SPAN-X protein associated with nuclear envelope of human spermatids and spermatozoa.
Title: Spermatid-specific expression of the novel X-linked gene product SPAN-X localized to the nucleus of human spermatozoa.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480537

NoName (e-PCR)
- UniSTS:482856

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	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: sperm protein associated with the nucleus on the X chromosome A

Names: Cancer/testis antigen 11.3; Cancer/testis-associated protein CTp11; Nuclear-associated protein SPAN-Xc; SPANX family member A; SPANX family, member A1; Sperm protein associated with the nucleus on the X chromosome C; cancer/testis antigen 11.1; cancer/testis antigen family 11, member 1; nuclear-associated protein SPAN-Xa; sperm protein associated with the nucleus, X chromosome, family member A1

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.