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SPATA7 spermatogenesis associated 7 [ Homo sapiens (human) ]

Gene ID: 55812, updated on 3-Jun-2018
Official Symbol
SPATA7provided by HGNC
Official Full Name
spermatogenesis associated 7provided by HGNC
Primary source
HGNC:HGNC:20423
See related
Ensembl:ENSG00000042317 MIM:609868; Vega:OTTHUMG00000170744
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
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 echinoderm microtubule associated protein like 5

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Leber congenital amaurosis 3
MedGen: C1858677 OMIM: 604232 GeneReviews: Leber Congenital Amaurosis
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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
Products Interactant Other Gene Complex Source Pubs Description

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

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_018418.4NP_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)
    AF144487, BC008656, BC090875, DA568174
    Consensus CDS
    CCDS9883.1
    UniProtKB/Swiss-Prot
    Q9P0W8
    UniProtKB/TrEMBL
    V9HVY9
    Related
    ENSP00000377176.4, OTTHUMP00000244292, ENST00000393545.8, OTTHUMT00000410172
    Conserved Domains (1) summary
    pfam15244
    Location:10420
    HSD3; Spermatogenesis-associated protein 7, or HSD3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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, OTTHUMP00000244304, ENST00000045347.11, OTTHUMT00000410187
    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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