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FLASH GENE
Symbol SPATA7 contributors: mct/shn - updated : 07-02-2012
HGNC name spermatogenesis associated 7
HGNC id 20423
Corresponding disease
LCA3 Leber congenital amaurosis, type 3
Location 14q31.3      Physical location : 88.851.987 - 88.904.802
Synonym name
  • spermatogenesis-associated protein HSD3
  • spermatogenesis-associated protein 7
    • Synonym symbol(s) HSD3, HSD-3.1, MGC102934, DKFZp686D07199, LCA3
    DNA
    TYPE functioning gene
    STRUCTURE 53.06 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D14S68 - D14S1058 - SPATA7 - D14S256 - D14S1005 - qter
    Physical map
    LOC283584 14q31.3 hypothetical LOC283584 LOC283586 14q31.3 hypothetical LOC283586 GALC 14q31 galactosylceramidase (Krabbe disease) GPR65 14q31.1 G protein-coupled receptor 65 LOC283587 14q31.3 hypothetical protein LOC283587 KCNK10 14q31 potassium channel, subfamily K, member 10 SPATA7 14q31.3 spermatogenesis associated 7 PTPN21 14q31.1 protein tyrosine phosphatase, non-receptor type 21 FLJ11806 14q31.3 nuclear protein UKp68 EML5 14q31.3 echinoderm microtubule associated protein like 5 TTC8 14q31.3 tetratricopeptide repeat domain 8 LOC390501 14 similar to MPPE1 protein CHES1 14q24.3-q31 checkpoint suppressor 1 C14orf116 14q31.3 chromosome 14 open reading frame 116 CAP2P1 14 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 PRO1768 14q32.11 PRO1768 protein CHORDC2P 14 cysteine and histidine-rich domain (CHORD)-containing 2 pseudogene C14orf143 14q32.11 chromosome 14 open reading frame 143 TDP1 14q32.11 tyrosyl-DNA phosphodiesterase 1 KCNK13 14q24.1-q24.3 potassium channel, subfamily K, member 13 GLRXP2 14q32.13-q32.2 glutaredoxin pseudogene 2 PSMC1 19p13.3 proteasome (prosome, macropain) 26S subunit, ATPase, 1 C14orf102 14q32.11 chromosome 14 open reading frame 102 RPL21P11 14q32.11 ribosomal protein L21 pseudogene 11 CALM1 14q24-q31 calmodulin 1 (phosphorylase kinase, delta) TTC7L1 14q32.12 tetratricopeptide repeat domain 7 like 1 RPS18P2 14 ribosomal protein S18 pseudogene 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1935 64.03 567 - 2003 12736779
    12 - 2031 67.6 599 - 2003 12736779
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  highly Homo sapiens
    Visualeyeretina  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a single transmembrane domain
    • HOMOLOGY
    interspecies ortholog to SPATA7, Pan troglodytes
    ortholog to Spata7, Rattus norvegicus
    ortholog to Spata7, Mus musculus
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • meiotic-related protein involved in spermatogenesis
  • may be involved in normal retinal function rather than development
  • may be involved in preparing chromatin in early meiotic prophase nuclei for the initiation of meiotic recombination
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCA3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS