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    SPATA31A6 SPATA31 subfamily A member 6 [ Homo sapiens (human) ]

    Gene ID: 389730, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPATA31A6provided by HGNC
    Official Full Name
    SPATA31 subfamily A member 6provided by HGNC
    Primary source
    HGNC:HGNC:32006
    See related
    Ensembl:ENSG00000185775 AllianceGenome:HGNC:32006
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM75A6
    Summary
    Predicted to enable actin binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 4.4) See more
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    Genomic context

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    See SPATA31A6 in Genome Data Viewer
    Location:
    9p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (42183659..42189887)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (43734207..43740441)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (43624502..43630730, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene contactin associated protein family member 3B Neighboring gene RNA, 7SL, cytoplasmic 343, pseudogene Neighboring gene ubiquitin specific peptidase 12 pseudogene Neighboring gene family with sequence similarity 74 member A7 Neighboring gene 6-pyruvoyltetrahydropterin synthase pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The testis-specific VAD1.3/AEP1 interacts with β-actin and syntaxin 1 and directs peri-nuclear/Golgi expression with bipartite nucleus localization (BNL) sequence. Zuo Y, et al. Biochem Biophys Res Commun, 2010 Oct 15. PMID 20850414
    2. FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia. Zhu XN, et al. J Hematol Oncol, 2023 Feb 11. PMID 36774506, Free PMC Article
    3. Cell fixation improves performance of in situ crosslinking mass spectrometry while preserving cellular ultrastructure. Michael ARM, et al. Nat Commun, 2024 Oct 2. PMID 39358380, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    spermatogenesis-associated protein 31A6
    Names
    family with sequence similarity 75, member A6

    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_001145196.1 → NP_001138668.1  spermatogenesis-associated protein 31A6

      See identical proteins and their annotated locations for NP_001138668.1

      Status: VALIDATED

      Source sequence(s)
      AL445584
      Consensus CDS
      CCDS75837.1
      UniProtKB/Swiss-Prot
      Q5VVP1
      UniProtKB/TrEMBL
      B2RUU1
      Related
      ENSP00000329825.6, ENST00000332857.7
      Conserved Domains (2) summary
      pfam14650
      Location:396 → 750
      FAM75; FAM75 family
      pfam15371
      Location:76 → 155
      DUF4599; Domain of unknown function (DUF4599)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      42183659..42189887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517871.4 → XP_011516173.1  spermatogenesis-associated protein 31A6 isoform X1

      UniProtKB/TrEMBL
      B2RUU1
      Conserved Domains (2) summary
      pfam14650
      Location:408 → 762
      FAM75; FAM75 family
      pfam15371
      Location:88 → 167
      DUF4599; Domain of unknown function (DUF4599)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      43734207..43740441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362949.1 → XP_054218924.1  spermatogenesis-associated protein 31A6 isoform X1

      UniProtKB/TrEMBL
      B2RUU1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VVP1.1 GenPept UniProtKB/Swiss-Prot:Q5VVP1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Research Materials