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Spata7 spermatogenesis associated 7 [ Mus musculus (house mouse) ]

Gene ID: 104871, updated on 21-Apr-2024

Summary

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Official Symbol
Spata7provided by MGI
Official Full Name
spermatogenesis associated 7provided by MGI
Primary source
MGI:MGI:2144877
See related
Ensembl:ENSMUSG00000021007 AllianceGenome:MGI:2144877
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
HSD3; B230306G18Rik
Summary
Involved in microtubule cytoskeleton organization; photoreceptor cell maintenance; and protein localization to non-motile cilium. Located in photoreceptor distal connecting cilium. Is active in rod photoreceptor outer segment. Is expressed in several structures, including blood vessel; central nervous system; and retina layer. Used to study Leber congenital amaurosis 3. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 3. Orthologous to human SPATA7 (spermatogenesis associated 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis adult (RPKM 77.4), frontal lobe adult (RPKM 5.1) and 4 other tissues See more
Orthologs
human all
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Genomic context

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Location:
12 E; 12 49.88 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (98594169..98636078)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (98628129..98669819)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene potassium channel, subfamily K, member 10 Neighboring gene predicted gene, 40893 Neighboring gene STARR-seq mESC enhancer starr_32997 Neighboring gene STARR-positive B cell enhancer mm9_chr12:99839121-99839422 Neighboring gene STARR-seq mESC enhancer starr_32998 Neighboring gene predicted gene, 25486 Neighboring gene STARR-seq mESC enhancer starr_33000 Neighboring gene protein tyrosine phosphatase, non-receptor type 21 Neighboring gene STARR-positive B cell enhancer ABC_E9861 Neighboring gene zinc finger CCCH type containing 14 Neighboring gene echinoderm microtubule associated protein like 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. Eblimit A, et al. Exp Eye Res, 2018 Jan. PMID 29100828, Free PMC Article
  2. Spata7 is required for maintenance of the retinal connecting cilium. Lu J, et al. Sci Rep, 2022 Apr 2. PMID 35368022, Free PMC Article
  3. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Wang H, et al. Am J Hum Genet, 2009 Mar. PMID 19268277, Free PMC Article
  4. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Eblimit A, et al. Hum Mol Genet, 2015 Mar 15. PMID 25398945, Free PMC Article
  5. SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. Dharmat R, et al. J Cell Biol, 2018 Aug 6. PMID 29899041, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Spata7 is required for maintenance of the retinal connecting cilium.
    Title: Spata7 is required for maintenance of the retinal connecting cilium.
  2. The absence of Spata7 results in the mislocalization of DCC proteins without affecting the proximal connecting cilium (PCC) protein complexes.
    Title: SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium.
  3. Spata7 is expressed in the mature mouse retina.
    Title: Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule cytoskeleton organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in photoreceptor cell maintenance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to photoreceptor connecting cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to photoreceptor outer segment IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to stimulus IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axoneme ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in microtubule cytoskeleton ISO
Inferred from Sequence Orthology
more info
  
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in photoreceptor distal connecting cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in photoreceptor distal connecting cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in photoreceptor distal connecting cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in rod photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in rod photoreceptor outer segment IGI
Inferred from Genetic Interaction
more info
 PubMed 
is_active_in rod photoreceptor outer segment IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
spermatogenesis-associated protein 7 homolog

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001289572.1 → NP_001276501.1  spermatogenesis-associated protein 7 homolog isoform 2

    See identical proteins and their annotated locations for NP_001276501.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK153698, AK161308, BY252962
    Consensus CDS
    CCDS70413.1
    UniProtKB/TrEMBL
    Q3TTL3
    Related
    ENSMUSP00000098705.4, ENSMUST00000101146.4
    Conserved Domains (1) summary
    pfam15244
    Location:10 → 376
    HSD3; Spermatogenesis-associated protein 7, or HSD3

  2. NM_001289573.1 → NP_001276502.1  spermatogenesis-associated protein 7 homolog isoform 3

    See identical proteins and their annotated locations for NP_001276502.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons, compared to variant 1. The encoded protein (isoform 3) is shorter, compared to isoform 1.
    Source sequence(s)
    AK153698, BY252962
    Consensus CDS
    CCDS79145.1
    UniProtKB/TrEMBL
    Q3U5D0
    Related
    ENSMUSP00000098704.4, ENSMUST00000101144.10
    Conserved Domains (1) summary
    pfam15244
    Location:10 → 241
    HSD3; Spermatogenesis-associated protein 7, or HSD3

  3. NM_001289574.1 → NP_001276503.1  spermatogenesis-associated protein 7 homolog isoform 4

    See identical proteins and their annotated locations for NP_001276503.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate exon and lacks an alternate exon in the 5' coding region, and uses an alternate downstream translation start codon, compared to variant 1. The encoded protein (isoform 4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC124516
    Conserved Domains (1) summary
    pfam15244
    Location:1 → 302
    HSD3; Spermatogenesis-associated protein 7, or HSD3

  4. NM_178914.4 → NP_849245.2  spermatogenesis-associated protein 7 homolog isoform 1

    See identical proteins and their annotated locations for NP_849245.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
    Source sequence(s)
    AK153698, BC046960, BY252962
    Consensus CDS
    CCDS26097.1
    UniProtKB/Swiss-Prot
    Q80VP2, Q8BK23
    Related
    ENSMUSP00000045827.6, ENSMUST00000048402.12
    Conserved Domains (1) summary
    pfam15244
    Location:10 → 408
    HSD3; Spermatogenesis-associated protein 7, or HSD3

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    98594169..98636078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030246503.2 → XP_030102363.1  spermatogenesis-associated protein 7 homolog isoform X3

    Conserved Domains (1) summary
    pfam15244
    Location:1 → 302
    HSD3; Spermatogenesis-associated protein 7, or HSD3

  2. XM_006515358.5 → XP_006515421.1  spermatogenesis-associated protein 7 homolog isoform X1

    See identical proteins and their annotated locations for XP_006515421.1

    Conserved Domains (1) summary
    pfam15244
    Location:3 → 369
    HSD3; Spermatogenesis-associated protein 7, or HSD3

  3. XM_011243979.4 → XP_011242281.1  spermatogenesis-associated protein 7 homolog isoform X2

    See identical proteins and their annotated locations for XP_011242281.1

    UniProtKB/Swiss-Prot
    Q80VP2
    Conserved Domains (1) summary
    pfam15244
    Location:1 → 357
    HSD3; Spermatogenesis-associated protein 7, or HSD3

  4. XM_030246504.2 → XP_030102364.1  spermatogenesis-associated protein 7 homolog isoform X3

    Conserved Domains (1) summary
    pfam15244
    Location:1 → 302
    HSD3; Spermatogenesis-associated protein 7, or HSD3

  5. XM_030246502.2 → XP_030102362.1  spermatogenesis-associated protein 7 homolog isoform X1

    Conserved Domains (1) summary
    pfam15244
    Location:3 → 369
    HSD3; Spermatogenesis-associated protein 7, or HSD3

  6. XM_030246505.2 → XP_030102365.1  spermatogenesis-associated protein 7 homolog isoform X3

    Conserved Domains (1) summary
    pfam15244
    Location:1 → 302
    HSD3; Spermatogenesis-associated protein 7, or HSD3
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80VP2.1 GenPept UniProtKB/Swiss-Prot:Q80VP2

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