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EQTN equatorin [ Homo sapiens (human) ]

Gene ID: 54586, updated on 5-Mar-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 be located in acrosomal membrane; early endosome; and nucleus. Predicted to be active in inner acrosomal membrane; outer acrosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (27284654..27297150, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (27295236..27307732, complement)
105.20220307 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 long intergenic non-protein coding RNA 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:27279903-27280404 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
  • 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_2023_10

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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