SPANXB1 SPANX family member B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPANXB1provided by HGNC
Official Full Name: SPANX family member B1provided by HGNC
Primary source: HGNC:HGNC:14329
See related: Ensembl:ENSG00000227234 MIM:300669; AllianceGenome:HGNC:14329
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: B1; CT11.2; SPANXB; SPANX-B; SPANXB2; SPANXF1; SPANXF2
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 family member contains an additional 18 nucleotides in its coding region compared to the other family members in the same gene cluster. This family member is also subject to gene copy number variation. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. [provided by RefSeq, Apr 2014]
Expression: Restricted expression toward testis (RPKM 16.7) See more
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Genomic context

Location:: Xq27.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (141002594..141003706)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (139319905..139321017)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (140084759..140085871)

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?

Cancer Testis Antigen Promotes Triple Negative Breast Cancer Metastasis and is Traceable in the Circulating Extracellular Vesicles.
Title: Cancer Testis Antigen Promotes Triple Negative Breast Cancer Metastasis and is Traceable in the Circulating Extracellular Vesicles.
Epigenetic mechanisms underlying the dynamic expression of cancer-testis genes, PAGE2, -2B and SPANX-B, during mesenchymal-to-epithelial transition
Title: Epigenetic mechanisms underlying the dynamic expression of cancer-testis genes, PAGE2, -2B and SPANX-B, during mesenchymal-to-epithelial transition.
Human VCX/Y, SPANX, and CSAG2 gene families together with the murine SPANX gene and the CYPT family may share a common ancestor.
Title: A shared promoter region suggests a common ancestor for the human VCX/Y, SPANX, and CSAG gene families and the murine CYPT family.
Copy number variation of the entire gene cluster containing all four SPANXA-E genes and with SPANXB, found exclusively in maturing sperm. Average CNV patterns did not differ between fertile and infertile men.
Title: SPANX gene variation in fertile and infertile males.
SPANX-B (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes
Title: SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.
genetic variability of SPANX-B and SPANX-C in a sample of Sicilian male population including patients with melanoma of the skin and controls; Sixteen and 13 genetic classes were detected for SPANX-B and SPANX-C genes, respectively
Title: SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: SPANX gene variation in fertile and infertile males.
correlation between SPAN-Xb gene expression and B-cell immune responses in myeloma and other hematologic malignancies
Title: Gene expression and immunologic consequence of SPAN-Xb in myeloma and other hematologic malignancies.

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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 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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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 spermatid development	NAS Non-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
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: sperm protein associated with the nucleus on the X chromosome B1

Names: SPANX family member B/F; SPANX family member F1; SPANX family, member B2; SPANX family, member F2; cancer/testis antigen 11.2; cancer/testis antigen family 11, member 2; nuclear-associated protein SPAN-Xb; nuclear-associated protein SPAN-Xf; sperm protein associated with the nucleus on the X chromosome B/F; sperm protein associated with the nucleus, X chromosome, family member B1

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_032461.4 → NP_115850.2 sperm protein associated with the nucleus on the X chromosome B1

See identical proteins and their annotated locations for NP_115850.2

Status: REVIEWED

Source sequence(s)

AJ457796

Consensus CDS

CCDS44006.1

UniProtKB/Swiss-Prot

A0A0G2JJ56, B2RPP2, Q32WQ7, Q5JYZ7, Q8TAD5, Q9NS25

UniProtKB/TrEMBL

Q32WN1

Related

ENSP00000405202.1, ENST00000449283.2

Conserved Domains (1) summary

pfam07458
Location:2 → 88

SPAN-X; Sperm protein associated with nucleus, mapped to X chromosome

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

141002594..141003706

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

139319905..139321017

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_145664.1: Suppressed sequence

Description

NM_145664.1: This RefSeq was permanently suppressed because it is a redundant RefSeq for the SPANXB-type gene that is represented in the GRCh38 primary reference genome assembly.