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Spata48 spermatogenesis associated 48 [ Mus musculus (house mouse) ]

Gene ID: 73862, updated on 13-Oct-2022

Summary

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Official Symbol
Spata48provided by MGI
Official Full Name
spermatogenesis associated 48provided by MGI
Primary source
MGI:MGI:1921112
See related
Ensembl:ENSMUSG00000020191 AllianceGenome:MGI:1921112
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
4930415F15Rik
Summary
Orthologous to human SPATA48 (spermatogenesis associated 48). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis adult (RPKM 2.9) and limb E14.5 (RPKM 0.2) See more
Orthologs
human all
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Genomic context

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See Spata48 in Genome Data Viewer
Location:
11; 11 A1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (11413744..11465192)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (11463744..11515192)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene zona pellucida binding protein Neighboring gene predicted gene, 26458 Neighboring gene TGF beta-inducible nuclear protein 1 pseudogene Neighboring gene predicted gene, 29945 Neighboring gene predicted gene 11998 Neighboring gene RIKEN cDNA 4930512M02 gene

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. Comparison of the sensitivity of C57BL/6J and AKR/J mice to airborne molecules of isovaleric acid and amyl acetate. Pourtier L, et al. Behav Genet, 1990 Jul. PMID 2175173
  2. Spermatogenesis-associated 48 is essential for spermatogenesis in mice. Zhang J, et al. Andrologia, 2018 Aug. PMID 29700843
  3. Fidgetin-like1 is a strong candidate for a dynamic impairment of male meiosis leading to reduced testis weight in mice. L'Hôte D, et al. PLoS One, 2011. PMID 22110678, Free PMC Article
  4. Ablation of the cardiac-specific gene leucine-rich repeat containing 10 (Lrrc10) results in dilated cardiomyopathy. Brody MJ, et al. PLoS One, 2012. PMID 23236519, Free PMC Article
  5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

See all (13) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In humans and mice with azoospermia, expression of SPATA48 disappeared in the testis.
    Title: Spermatogenesis-associated 48 is essential for spermatogenesis in mice.
Submit: New GeneRIF Correction

Variation

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Alleles

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

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
spermatogenesis-associated protein 48
Names
post meiotic spermatogenesis 1
post-meiotic spermatogenesis protein 1
uncharacterized protein C7orf72 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_001347068.2 → NP_001333997.1  spermatogenesis-associated protein 48 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL662805
    Consensus CDS
    CCDS88132.1
    UniProtKB/TrEMBL
    F8WJ82
    Related
    ENSMUSP00000020410.6, ENSMUST00000020410.11

  2. NM_001382244.2 → NP_001369173.1  spermatogenesis-associated protein 48 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL662805
    Conserved Domains (1) summary
    pfam15073
    Location:106 → 233
    DUF4540; Domain of unknown function (DUF4540)

  3. NM_001382245.2 → NP_001369174.1  spermatogenesis-associated protein 48 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL662805
    Conserved Domains (1) summary
    pfam15073
    Location:102 → 229
    DUF4540; Domain of unknown function (DUF4540)

  4. NM_001401546.1 → NP_001388475.1  spermatogenesis-associated protein 48 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL662805

  5. NM_001401547.1 → NP_001388476.1  spermatogenesis-associated protein 48 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL662805

  6. NM_028669.2 → NP_082945.1  spermatogenesis-associated protein 48 isoform 2

    See identical proteins and their annotated locations for NP_082945.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR. lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AL662805
    Consensus CDS
    CCDS48752.1
    UniProtKB/Swiss-Prot
    Q5NC83
    Related
    ENSMUSP00000105300.2, ENSMUST00000109678.3
    Conserved Domains (1) summary
    pfam15073
    Location:18 → 145
    DUF4540; Domain of unknown function (DUF4540)

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    11413744..11465192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006514822.5 → XP_006514885.1  spermatogenesis-associated protein 48 isoform X1

    Conserved Domains (1) summary
    pfam15073
    Location:297 → 424
    DUF4540; Domain of unknown function (DUF4540)

  2. XM_006514826.1 → XP_006514889.1  spermatogenesis-associated protein 48 isoform X2

    See identical proteins and their annotated locations for XP_006514889.1

    Conserved Domains (1) summary
    pfam15073
    Location:55 → 182
    DUF4540; Domain of unknown function (DUF4540)

  3. XM_017314798.2 → XP_017170287.1  spermatogenesis-associated protein 48 isoform X2

    Conserved Domains (1) summary
    pfam15073
    Location:55 → 182
    DUF4540; Domain of unknown function (DUF4540)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5NC83.2 GenPept UniProtKB/Swiss-Prot:Q5NC83

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