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    SPAG7 sperm associated antigen 7 [ Homo sapiens (human) ]

    Gene ID: 9552, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SPAG7provided by HGNC
    Official Full Name
    sperm associated antigen 7provided by HGNC
    Primary source
    HGNC:HGNC:11216
    See related
    Ensembl:ENSG00000091640 MIM:610056; AllianceGenome:HGNC:11216
    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
    ACRP; FSA-1
    Summary
    Predicted to enable nucleic acid binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 25.7), kidney (RPKM 18.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPAG7 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4959226..4967817, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4849539..4858141, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4862521..4871112, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8057 Neighboring gene profilin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4854946-4855680 Neighboring gene enolase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4868801-4869478 Neighboring gene uncharacterized LOC124900387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4870157-4870834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4870835-4871511 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:4872157-4873356 Neighboring gene calmodulin binding transcription activator 2 Neighboring gene microRNA 6864 Neighboring gene microRNA 6865

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome. Bens S, et al. Genes Immun, 2014 Apr-May. PMID 24452265
    2. Cloning and characterization of a fox sperm protein FSA-1. Beaton S, et al. Reprod Fertil Dev, 1994. PMID 7624517
    3. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Mao M, et al. Proc Natl Acad Sci U S A, 1998 Jul 7. PMID 9653160, Free PMC Article
    4. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. Lehner B, et al. Genomics, 2004 Jan. PMID 14667819
    5. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. Wang B, et al. EBioMedicine, 2019 Mar. PMID 30745168, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome.
      Title: SPAG7 is a candidate gene for the periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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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    Markers

    Homology

    Clone Names

    • MGC20134

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sperm-associated antigen 7

    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_004890.3 → NP_004881.2  sperm-associated antigen 7

      See identical proteins and their annotated locations for NP_004881.2

      Status: VALIDATED

      Source sequence(s)
      BC011934, BP308951
      Consensus CDS
      CCDS42240.1
      UniProtKB/Swiss-Prot
      O75391, Q96EU5
      Related
      ENSP00000206020.3, ENST00000206020.8
      Conserved Domains (2) summary
      cd02636
      Location:49 → 109
      R3H_sperm-antigen; R3H domain of a group of metazoan proteins that is related to the sperm-associated antigen 7. The name of the R3H domain comes from the characteristic spacing of the most conserved arginine and histidine residues. The function of the domain is predicted ...
      cl19818
      Location:1 → 76
      DUF106; Integral membrane protein DUF106

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4959226..4967817 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4849539..4858141 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75391.2 GenPept UniProtKB/Swiss-Prot:O75391

    Gene LinkOut

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

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