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

Gene ID: 9552, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 25.7), kidney (RPKM 18.4) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4959226..4967817, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4849539..4858141, complement)
105.20220307 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 (28) 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)

Genotypes

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_2023_10

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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