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    SPATA7 spermatogenesis associated 7 [ Homo sapiens (human) ]

    Gene ID: 55812, updated on 15-Apr-2019

    Summary

    Official Symbol
    SPATA7provided by HGNC
    Official Full Name
    spermatogenesis associated 7provided by HGNC
    Primary source
    HGNC:HGNC:20423
    See related
    Ensembl:ENSG00000042317 MIM:609868
    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
    HSD3; LCA3; HSD-3.1; HEL-S-296
    Summary
    This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
    Expression
    Broad expression in testis (RPKM 22.8), thyroid (RPKM 6.0) and 17 other tissues See more
    Orthologs

    Genomic context

    See SPATA7 in Genome Data Viewer
    Location:
    14q31.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (88385638..88470350)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (88851982..88904804)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370613 Neighboring gene uncharacterized LOC105370612 Neighboring gene potassium two pore domain channel subfamily K member 10 Neighboring gene uncharacterized LOC105370614 Neighboring gene protein tyrosine phosphatase non-receptor type 21 Neighboring gene RNA, U4 small nuclear 22, pseudogene Neighboring gene zinc finger CCCH-type containing 14 Neighboring gene EMAP like 5

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    NHGRI GWA Catalog
    Whole genome association scan for genetic polymorphisms influencing information processing speed.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC102934, DKFZp686D07199

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to photoreceptor connecting cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization to photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    photoreceptor connecting cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    spermatogenesis-associated protein 7
    Names
    epididymis secretory protein Li 296
    epididymis secretory sperm binding protein
    spermatogenesis-associated protein HSD3

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_021183.1 RefSeqGene

      Range
      5001..57817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040428.3NP_001035518.1  spermatogenesis-associated protein 7 isoform 2

      See identical proteins and their annotated locations for NP_001035518.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is lacking an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AF144487, BC008656, BC090875, DA568174
      Consensus CDS
      CCDS32132.1
      UniProtKB/Swiss-Prot
      Q9P0W8
      Related
      ENSP00000348991.5, ENST00000356583.9
      Conserved Domains (1) summary
      pfam15244
      Location:10388
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    2. NM_018418.5NP_060888.2  spermatogenesis-associated protein 7 isoform 1

      See identical proteins and their annotated locations for NP_060888.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL049834
      Consensus CDS
      CCDS9883.1
      UniProtKB/Swiss-Prot
      Q9P0W8
      UniProtKB/TrEMBL
      V9HVY9
      Related
      ENSP00000377176.4, ENST00000393545.9
      Conserved Domains (1) summary
      pfam15244
      Location:10420
      HSD3; Spermatogenesis-associated protein 7, or HSD3

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      88385638..88470350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536953.1XP_011535255.1  spermatogenesis-associated protein 7 isoform X9

      Conserved Domains (1) summary
      pfam15244
      Location:1315
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    2. XM_017021457.1XP_016876946.1  spermatogenesis-associated protein 7 isoform X10

    3. XM_005267855.1XP_005267912.1  spermatogenesis-associated protein 7 isoform X7

      See identical proteins and their annotated locations for XP_005267912.1

      Conserved Domains (1) summary
      pfam15244
      Location:17357
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    4. XM_017021455.1XP_016876944.1  spermatogenesis-associated protein 7 isoform X8

    5. XM_005267852.2XP_005267909.1  spermatogenesis-associated protein 7 isoform X2

      Conserved Domains (1) summary
      pfam15244
      Location:10389
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    6. XM_006720205.1XP_006720268.1  spermatogenesis-associated protein 7 isoform X12

      Conserved Domains (1) summary
      pfam15244
      Location:10421
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    7. XM_006720204.1XP_006720267.1  spermatogenesis-associated protein 7 isoform X11

      Related
      ENSP00000045347.7, ENST00000045347.11
      Conserved Domains (1) summary
      pfam15244
      Location:10421
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    8. XM_011536951.1XP_011535253.1  spermatogenesis-associated protein 7 isoform X3

      Conserved Domains (1) summary
      pfam15244
      Location:1370
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    9. XM_017021452.1XP_016876941.1  spermatogenesis-associated protein 7 isoform X4

      Conserved Domains (1) summary
      pfam15244
      Location:1369
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    10. XM_017021453.1XP_016876942.1  spermatogenesis-associated protein 7 isoform X7

      Conserved Domains (1) summary
      pfam15244
      Location:17357
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    11. XM_005267854.1XP_005267911.1  spermatogenesis-associated protein 7 isoform X7

      See identical proteins and their annotated locations for XP_005267911.1

      Conserved Domains (1) summary
      pfam15244
      Location:17357
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    12. XM_017021454.1XP_016876943.1  spermatogenesis-associated protein 7 isoform X8

    13. XM_005267851.1XP_005267908.1  spermatogenesis-associated protein 7 isoform X1

      Conserved Domains (1) summary
      pfam15244
      Location:10421
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    14. XM_011536952.1XP_011535254.1  spermatogenesis-associated protein 7 isoform X5

      Conserved Domains (1) summary
      pfam15244
      Location:4364
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    15. XM_024449660.1XP_024305428.1  spermatogenesis-associated protein 7 isoform X6

      Conserved Domains (1) summary
      pfam15244
      Location:4363
      HSD3; Spermatogenesis-associated protein 7, or HSD3
    16. XM_017021456.1XP_016876945.1  spermatogenesis-associated protein 7 isoform X8

    RNA

    1. XR_002957563.1 RNA Sequence

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