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SPANXB1
Identifiers
Aliases	SPANXB1, B1, CT11.2, SPANX-B, SPANXB, SPANXB2, SPANXF1, SPANXF2, SPANX family member B1
External IDs	OMIM: 300669; HomoloGene: 88477; GeneCards: SPANXB1; OMA:SPANXB1 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq27.1 Start 141,002,594 bp End 141,003,706 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis testicle sperm gonad buccal mucosa cell tail of epididymis kidney liver human musculoskeletal system n/a More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function Cellular component cytoplasm nucleus Biological process spermatid development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 728695 n/a Ensembl ENSG00000227234 n/a UniProt Q9NS25 n/a RefSeq (mRNA) NM_032461 NM_145664 n/a RefSeq (protein) NP_115850 n/a Location (UCSC) Chr X: 141 – 141 Mb n/a PubMed search n/a
Wikidata
View/Edit Human

SPANX family member B1 is a protein that in humans is encoded by the SPANXB1 gene.

Function

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 deferentially 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 spermatozoa, while attempting to further define its role in spermatogenesis. .

References

1. ^ GRCh38: Ensembl release 89: ENSG00000227234 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Entrez Gene: SPANX family member B1". Retrieved 2018-07-10.

Further reading

• Wang Z, Zhang Y, Liu H, Salati E, Chiriva-Internati M, Lim SH (February 2003). "Gene expression and immunologic consequence of SPAN-Xb in myeloma and other hematologic malignancies". Blood. 101 (3): 955–60. doi:10.1182/blood-2002-06-1930. PMID 12393489.
• Hansen MA, Nielsen JE, Retelska D, Larsen N, Leffers H (February 2008). "A shared promoter region suggests a common ancestor for the human VCX/Y, SPANX, and CSAG gene families and the murine CYPT family". Mol. Reprod. Dev. 75 (2): 219–29. doi:10.1002/mrd.20651. PMID 17342728. S2CID 23832889.
• Salemi M, Bosco P, Calì F, Calogero AE, Soma PF, Galia A, Lanzafame M, Romano C, Vicari E, Grasso G, Siragò P, Rappazzo G (August 2008). "SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma". Melanoma Res. 18 (4): 295–9. doi:10.1097/CMR.0b013e32830aaa90. PMID 18626316. S2CID 37282806.
• Salemi M, Bosco P, Calì F, Calogero AE, Soma PF, Galia A, Lanzafame M, Romano C, Vicari E, Grasso G, Siragò P, Rappazzo G (August 2008). "SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma". Melanoma Res. 18 (4): 295–9. doi:10.1097/CMR.0b013e32830aaa90. PMID 18626316. S2CID 37282806.
• Salemi M, Romano C, Barone C, Calí F, Caraci F, Romano C, Scavuzzo C, Scillato F, Salluzzo MG, Piccione M, Martines M, Corsello G, Nicoletti F, Bosco P (April 2009). "SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes". J. Genet. 88 (1): 93–7. doi:10.1007/s12041-009-0013-2. PMID 19417550. S2CID 1398612.
• Hansen S, Eichler EE, Fullerton SM, Carrell D (February 2010). "SPANX gene variation in fertile and infertile males". Syst Biol Reprod Med. 55: 18–26. doi:10.3109/19396360903312015. PMID 20073942. S2CID 26760542.
• Hansen S, Eichler EE, Fullerton SM, Carrell D (February 2010). "SPANX gene variation in fertile and infertile males". Syst Biol Reprod Med. 55: 18–26. doi:10.3109/19396360903312015. PMID 20073942. S2CID 26760542.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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