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    EQTN equatorin [ Homo sapiens (human) ]

    Gene ID: 54586, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EQTNprovided by HGNC
    Official Full Name
    equatorinprovided by HGNC
    Primary source
    HGNC:HGNC:1359
    See related
    Ensembl:ENSG00000120160 MIM:617653; AllianceGenome:HGNC:1359
    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
    AFAF; SPACA8; C9orf11
    Summary
    Predicted to be involved in acrosomal vesicle exocytosis; endocytosis; and fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to act upstream of or within establishment of localization in cell. Predicted to be located in early endosome and nucleus. Predicted to be active in inner acrosomal membrane; outer acrosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 7.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See EQTN in Genome Data Viewer
    Location:
    9p21.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (27284654..27297150, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (27295236..27307732, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (27284652..27297148, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TEK receptor tyrosine kinase Neighboring gene ribosomal protein L36a pseudogene 34 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:27239318-27239818 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:27239819-27240319 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:27251147-27251648 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:27251649-27252148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:27279903-27280404 Neighboring gene RNA exonuclease 6, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:27303550-27304050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:27304051-27304551 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:27353610-27354591 Neighboring gene MOB kinase activator 3B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28253 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:27369079-27369832 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:27369833-27370587 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:27395570-27396133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:27465247-27465748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19819 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:27494687-27495392 Neighboring gene dapper homolog 3-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19821 Neighboring gene interferon kappa

    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 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. Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer. Ruiz A, et al. Biochim Biophys Acta, 2000 Dec 15. PMID 11118625
    2. Afaf, a novel vesicle membrane protein, is related to acrosome formation in murine testis. Li YC, et al. FEBS Lett, 2006 Jul 24. PMID 16831425
    3. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Laaksovirta H, et al. Lancet Neurol, 2010 Oct. PMID 20801718, Free PMC Article
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A genome-wide association study finds that the chromosome 9p21 locus is a major cause of familial amyotrophic lateral sclerosis in the Finnish population.
      Title: Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in acrosomal vesicle exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in inner acrosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in inner acrosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in outer acrosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in outer acrosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    equatorin
    Names
    Acrosome formation associated factor
    acrosome formation-associated factor
    equatorin, sperm acrosome associated
    sperm acrosome associated 8

    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_001161585.2 → NP_001155057.1  equatorin isoform 2 precursor

      See identical proteins and their annotated locations for NP_001155057.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AJ278482, AL133411, BC144602, BX089774
      Consensus CDS
      CCDS55300.1
      UniProtKB/Swiss-Prot
      Q9NQ60
      Related
      ENSP00000441630.1, ENST00000537675.5
      Conserved Domains (1) summary
      pfam15339
      Location:53 → 214
      Afaf; Acrosome formation-associated factor

    2. NM_020641.3 → NP_065692.2  equatorin isoform 1 precursor

      See identical proteins and their annotated locations for NP_065692.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ278482, AL133411, BC137352, BX089774
      Consensus CDS
      CCDS35001.1
      UniProtKB/Swiss-Prot
      B2RPB3, B7ZMK1, Q5TCU1, Q96L22, Q9NQ60
      Related
      ENSP00000369371.3, ENST00000380032.8
      Conserved Domains (1) summary
      pfam15339
      Location:53 → 243
      Afaf; Acrosome formation-associated factor

    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
      27284654..27297150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517920.2 → XP_011516222.1  equatorin isoform X1

      Conserved Domains (1) summary
      pfam15339
      Location:1 → 107
      Afaf; Acrosome formation-associated factor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      27295236..27307732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363129.1 → XP_054219104.1  equatorin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQ60.2 GenPept UniProtKB/Swiss-Prot:Q9NQ60

    Gene LinkOut

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

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