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SPATA31D1 Gene

protein-coding   GIFtS: 29
GCID: GC09P084636

SPATA31 Subfamily D, Member 1

(Previous names: family with sequence similarity 75, member D1)
(Previous symbol: FAM75D1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SPATA31 Subfamily D, Member 11 2
FAM75D11 2 3
Family With Sequence Similarity 75, Member D11 2
Protein FAM75D12 3
FAM75-Like Protein FLJ463212
Spermatogenesis-Associated Protein 31D12

External Ids:    HGNC: 372831   Entrez Gene: 3897632   Ensembl: ENSG000002149297   UniProtKB: Q6ZQQ23   

Export aliases for SPATA31D1 gene to outside databases

Previous GC identifers: GC09P084624 GC09P084630


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPATA31D1 Gene:
SPATA31D1 (SPATA31 subfamily D, member 1) is a protein-coding gene. An important paralog of this gene is SPATA31A1.

UniProtKB/Swiss-Prot: S31D1_HUMAN, Q6ZQQ2
Function: May play a role in spermatogenesis (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SPATA31D1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SPATA31D1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPATA31D1


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

Entrez Gene cytogenetic band: 9q21.32   Ensembl cytogenetic band:  9q21.32   HGNC cytogenetic band: 9q21.32

SPATA31D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA31D1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P084636:  view genomic region     (about GC identifiers)

Start:
84,603,687 bp from pter      End:
84,610,171 bp from pter
Size:
6,485 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S31D1_HUMAN, Q6ZQQ2 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 31D1  
Size: 1576 amino acids; 175618 Da

Explore the universe of human proteins at neXtProt for SPATA31D1: NX_Q6ZQQ2

Explore proteomics data for SPATA31D1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPATA31D1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001001670.1  
    ENSEMBL proteins: 
     ENSP00000341988  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR027970 DUF4599

    Graphical View of Domain Structure for InterPro Entry Q6ZQQ2

    ProtoNet protein and cluster: Q6ZQQ2

    UniProtKB/Swiss-Prot: S31D1_HUMAN, Q6ZQQ2
    Similarity: Belongs to the SPATA31 family


    Find genes that share domains with SPATA31D1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S31D1_HUMAN, Q6ZQQ2
    Function: May play a role in spermatogenesis (By similarity)

    Animal Models:

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S31D1_HUMAN, Q6ZQQ2: Membrane; Single-pass membrane protein (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SPATA31D1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPATA31D1
    Interactions:

        Search GeneGlobe Interaction Network for SPATA31D1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SPATA31D1 (ENSP000003419884) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--

    Find genes that share ontologies with SPATA31D1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPATA31D1 (S31D1)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SPATA31D1 gene: 
    NM_001001670.2  

    Unigene Cluster for SPATA31D1:

    SPATA31 subfamily D, member 1
    Hs.209545  [show with all ESTs]
    Unigene Representative Sequence: NM_001001670
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344803(uc004amn.3) ENST00000603921
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    Additional mRNA sequence: AK128831.1 

    1 DOTS entry:

    DT.302435 

    10 AceView cDNA sequences:

    AL040781 AI005107 AK128831 AL040780 BX115257 NM_001001670 AA861346 AI935037 
    AW664703 AL040736 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPATA31D1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPATA31D1 Expression
    About this image

    SPATA31D1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPATA31D1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.209545
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA31D1

    (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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for SPATA31D1 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spata31d1a1 spermatogenesis associated 31 subfamily D, member 1A 57(n)
    37.07(a)
      72219  NM_028157.2  NP_082433.2 


    ENSEMBL Gene Tree for SPATA31D1 (if available)
    TreeFam Gene Tree for SPATA31D1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPATA31D1 gene
    SPATA31D4  SPATA31D3  SPATA31A12  SPATA31E12  SPATA31A72  SPATA31A62  SPATA31A22  SPATA31A52  
    SPATA31A32  SPATA31A42  
    2 SIMAP similar genes for SPATA31D1 using alignment to 1 protein entry:     S31D1_HUMAN:
    SPATA31D3    SPATA31D4

    Find genes that share paralogs with SPATA31D1           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for SPATA31D1
    PGOHUM00000236022 PGOHUM00000236659 PGOHUM00000236660 PGOHUM00000236661 PGOHUM00000236662


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPATA31D1 (see all 422)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1820212391,2
    C--84601803(+) GCGCAC/TTGTAA 1 -- us2k10--------
    rs1869438861,2
    --84601873(+) CTGTCC/TGTATT 1 -- us2k10--------
    rs1904936111,2
    --84602092(+) CAGCCC/TTATTT 1 -- us2k10--------
    rs1826322391,2
    --84602212(+) TAACAA/GTGTAT 1 -- us2k10--------
    rs734782941,2
    C,F--84602320(+) AAACCG/CACTCA 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs1486544111,2
    --84602322(+) ACCCAC/TTCATA 1 -- us2k10--------
    rs1869515221,2
    --84602449(+) CTTTTA/GGGTCG 1 -- us2k10--------
    rs123763401,2
    C,H--84602453(+) taggtC/TgaTGT 1 -- us2k16Minor allele frequency- T:0.00NS EA NA 524
    rs1897717981,2
    --84602454(+) AGGTCA/GATGTG 1 -- us2k10--------
    rs2014282061,2
    --84602475(+) TGTGT-/AGAGAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPATA31D1 (84603687 - 84610171 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SPATA31D1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPATA31D1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPATA31D1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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)
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    PubMed articles for SPATA31D1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPATA31D1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 389763 HGNC: 37283 AceView: FLJ46321 Ensembl:ENSG00000214929 euGenes: HUgn389763
    ECgene: SPATA31D1 H-InvDB: SPATA31D1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPATA31D1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPATA31D1 gene:
    Search GeneIP for patents involving SPATA31D1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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     Browse ESI BIO Cell Lines and PureStem Progenitors for SPATA31D1
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPATA31D1
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     Search Addgene for plasmids for SPATA31D1
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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