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SPATA7 spermatogenesis associated 7 [ Homo sapiens (human) ]

Gene ID: 55812, updated on 5-Jul-2015
Official Symbol
SPATA7provided by HGNC
Official Full Name
spermatogenesis associated 7provided by HGNC
Primary source
HGNC:HGNC:20423
See related
Ensembl:ENSG00000042317; HPRD:15431; 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]
Orthologs
See SPATA7 in Epigenomics, MapViewer
Location:
14q31.3
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 channel, two pore domain subfamily K, member 10 Neighboring gene uncharacterized LOC105370614 Neighboring gene protein tyrosine phosphatase, non-receptor type 21 Neighboring gene zinc finger CCCH-type containing 14 Neighboring gene echinoderm microtubule associated protein like 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Leber congenital amaurosis 3
MedGen: C1858677 OMIM: 604232 GeneReviews: Leber Congenital Amaurosis
Compare labs

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
 
spermatogenesis 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 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
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, ENST00000356583
    Conserved Domains (1) summary
    pfam15244
    Location:6391
    HSD3; Hydroxy-steroid dehydrogenase
  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, OTTHUMP00000244292, ENST00000393545, OTTHUMT00000410172
    Conserved Domains (1) summary
    pfam15244
    Location:6423
    HSD3; Hydroxy-steroid dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536953.1XP_011535255.1  

    Conserved Domains (1) summary
    pfam15244
    Location:1318
    HSD3; Hydroxy-steroid dehydrogenase
  2. XM_005267855.1XP_005267912.1  

    See identical proteins and their annotated locations for XP_005267912.1

    Conserved Domains (1) summary
    pfam15244
    Location:17360
    HSD3; Hydroxy-steroid dehydrogenase
  3. XM_005267852.1XP_005267909.1  

    Conserved Domains (1) summary
    pfam15244
    Location:6392
    HSD3; Hydroxy-steroid dehydrogenase
  4. XM_006720205.1XP_006720268.1  

    Conserved Domains (1) summary
    pfam15244
    Location:6424
    HSD3; Hydroxy-steroid dehydrogenase
  5. XM_006720204.1XP_006720267.1  

    Conserved Domains (1) summary
    pfam15244
    Location:6424
    HSD3; Hydroxy-steroid dehydrogenase
  6. XM_011536951.1XP_011535253.1  

    Conserved Domains (1) summary
    pfam15244
    Location:1373
    HSD3; Hydroxy-steroid dehydrogenase
  7. XM_005267854.1XP_005267911.1  

    See identical proteins and their annotated locations for XP_005267911.1

    Conserved Domains (1) summary
    pfam15244
    Location:17360
    HSD3; Hydroxy-steroid dehydrogenase
  8. XM_005267851.1XP_005267908.1  

    Conserved Domains (1) summary
    pfam15244
    Location:6424
    HSD3; Hydroxy-steroid dehydrogenase
  9. XM_011536952.1XP_011535254.1  

    Conserved Domains (1) summary
    pfam15244
    Location:4367
    HSD3; Hydroxy-steroid dehydrogenase

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    88790015..88842671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)