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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPANXB1 Gene

protein-coding   GIFtS: 40
GCID: GC0XP140096

SPANX Family, Member B1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SPANX Family, Member B11 2     Cancer/Testis Antigen Family 111
Cancer/Testis Antigen 11.22 3     Member 21
Nuclear-Associated Protein SPAN-Xb2 3     B12
Nuclear-Associated Protein SPAN-Xf2 3     Cancer/Testis Antigen Family 11, Member 22
CT11.22 3     Sperm Protein Associated With The Nucleus On The X Chromosome B/F2
SPANX-B2 3     Sperm Protein Associated With The Nucleus, X Chromosome, Family Member B12
SPANXB2 3     SPANX-F3
SPANX Family Member B/F2 3     

External Ids:    HGNC: 143291   Entrez Gene: 7286952   Ensembl: ENSG000002356047   OMIM: 3006695   UniProtKB: Q9NS253   

Export aliases for SPANXB1 gene to outside databases

Previous GC identifers: GC0XP134615 GC0XP136942 GC0XP138029 GC0XP138790 GC0XP139810 GC0XP139913 GC0XP139925 GC0XP139927


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPANXB1 Gene:
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-tail orientation with
SPANX family member B2, which appears to be a duplication of the B1 locus. The SPANXB genes are unique members of
this gene family, since they contain an additional 18 nt in their coding region compared to the majority of
family members. 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, Jul 2008)

GeneCards Summary for SPANXB1 Gene: 
SPANXB1 (SPANX family, member B1) is a protein-coding gene. Diseases associated with SPANXB1 include germ cell tumors, and down syndrome. An important paralog of this gene is SPANXA2.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011786.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPANXB1 gene promoter:
         Max1   USF1   USF-1   CUTL1   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SPANXB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPANXB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq27.1   Ensembl cytogenetic band:  Xq27.1   HGNC cytogenetic band: Xq27.1

SPANXB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPANXB1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP140096:  view genomic region     (about GC identifiers)

Start:
140,096,761 bp from pter      End:
140,097,876 bp from pter
Size:
1,116 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
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About This Section

UniProtKB/Swiss-Prot: SPNXB_HUMAN, Q9NS25 (See protein sequence)
Recommended Name: Sperm protein associated with the nucleus on the X chromosome B/F  
Size: 103 amino acids; 11826 Da
Subcellular location: Cytoplasm. Nucleus. Note=Associated with nuclear craters
Developmental stage: Detected in round and elongating spermatids
Secondary accessions: B2RPP2 Q32WQ7 Q5JYZ7 Q8TAD5

Explore the universe of human proteins at neXtProt for SPANXB1: NX_Q9NS25

Explore proteomics data for SPANXB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NS25

  • SPANXB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPANXB1 Protein Expression
    REFSEQ proteins: NP_115850.1  
    ENSEMBL proteins: 
     ENSP00000359561  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----

    SPANXB1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR010007 SPANX_prot

    Graphical View of Domain Structure for InterPro Entry Q9NS25

    ProtoNet protein and cluster: Q9NS25

    UniProtKB/Swiss-Prot: SPNXB_HUMAN, Q9NS25
    Similarity: Belongs to the SPAN-X family


    SPANXB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ----
         
    SPANXB1 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPANXB1

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007286spermatid development ----

    SPANXB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPANXB1 (SPNXB)

    Search CenterWatch for drugs/clinical trials and news about SPANXB1 / SPNXB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPANXB1 gene: 
    NM_032461.2  

    Unigene Cluster for SPANXB1:

    SPANX family, member B1
    Hs.711489
    Unigene Representative Sequence: NM_032461
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000370530(uc004fbi.3)
    miRNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPANXB1

    Additional mRNA sequence: 

    BC137533.1 BC137536.1 

    2 DOTS entries:

    DT.121301246  DT.99934860 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPANXB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPANXB1 Expression
    About this image


    See SPANXB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPANXB1

    SOURCE GeneReport for Unigene cluster: Hs.711489

    UniProtKB/Swiss-Prot: SPNXB_HUMAN, Q9NS25
    Tissue specificity: Detected in testis and sperm

        SABiosciences Custom PCR Arrays for SPANXB1
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and chimp.

    Orthologs for SPANXB1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia LOC4939811 SPANX A/D member 1 88.66(n)
    74.23(a)
      493981  NM_001009153.1  NP_001009153.1 


    ENSEMBL Gene Tree for SPANXB1 (if available)
    TreeFam Gene Tree for SPANXB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPANXB1 gene
    SPANXB21 2  SPANXC1 2  SPANXA21 2  SPANXA11 2  SPANXD1 2  
    9 SIMAP similar genes for SPANXB1 using alignment to 1 protein entry:     SPNXB_HUMAN:
    SPANXC    SPANXA1    SPANXE    SPANXA2    SPANXD    SPANXN1
    SPANXN2    SPANXN5    SPANXN3

    SPANXB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    1 SNPs in SPANXB1 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0211634
    ----see VAR_0211632 V L mis40--------

    HapMap Linkage Disequilibrium report for SPANXB1 (140096761 - 140097876 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for SPANXB1 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv821600CNV Deletion20802225
    nsv7124CNV Insertion18451855
    nsv508805CNV Insertion20534489
    esv1002958CNV Loss20482838
    nsv499192CNV Loss21111241
    nsv510863CNV Loss20534489
    nsv7123CNV Loss18451855
    nsv524931CNV Gain19592680
    nsv433463CNV Gain18776910
    nsv9978CNV Gain18304495

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300669    OMIM disorders: --

    7 diseases for SPANXB1:    About MalaCards
    germ cell tumors    down syndrome    infertility    myeloma
    prostate cancer    melanoma    prostatitis


    SPANXB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPANXB1
    Human Genome Epidemiology (HuGE) Navigator: SPANXB1 (1 document)

    Export disorders for SPANXB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPANXB1 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with SPANXB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SPANX gene variation in fertile and infertile males. (PubMed id 20073942)1, 4 Hansen S....Carrell D. (2010)
    2. Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27. (PubMed id 16251457)1, 2 Kouprina N.... Larionov V. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. The human SPANX multigene family: genomic organization, alignment and expression in male germ cells and tumor cell lines. (PubMed id 12758128)1, 2 Zendman A.J.... van Muijen G.N.P. (2003)
    5. Spermatid-specific expression of the novel X-linked gene product SPAN-X localized to the nucleus of human spermatozoa. (PubMed id 10906052)1, 2 Westbrook V.A.... Herr J.C. (2000)
    6. Localization and identification of sumoylated proteins in human sperm: excessive sumoylation is a marker of defective spermatozoa. (PubMed id 23077236)1 Vigodner M....Callaway M. (2013)
    7. SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes. (PubMed id 19417550)1 Salemi M....Bosco P. (2009)
    8. SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma. (PubMed id 18626316)1 Salemi M....Rappazzo G. (2008)
    9. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    10. Gene expression and immunologic consequence of SPAN-Xb in myeloma and other hematologic malignancies. (PubMed id 12393489)1 Wang Z....Lim S.H. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 728695 HGNC: 14329 Ensembl:ENSG00000235604 euGenes: HUgn728695 ECgene: SPANXB1
    H-InvDB: SPANXB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPANXB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPANXB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPANXB1 gene:
    Search GeneIP for patents involving SPANXB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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