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EQTN equatorin [ Homo sapiens (human) ]

Gene ID: 54586, updated on 22-Sep-2022

Summary

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
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Genomic context

See EQTN in Genome Data Viewer
Location:
9p21.2
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (27284654..27297150, complement)
110 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 long intergenic non-protein coding RNA 32 Neighboring gene MOB kinase activator 3B Neighboring gene dapper homolog 3-like Neighboring gene interferon kappa

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in acrosomal vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in fusion of sperm to egg plasma membrane involved in single fertilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in inner acrosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 

General protein information

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_001161585.2NP_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:53214
    Afaf; Acrosome formation-associated factor
  2. NM_020641.3NP_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
    Q96L22, Q9NQ60
    Related
    ENSP00000369371.3, ENST00000380032.8
    Conserved Domains (1) summary
    pfam15339
    Location:53243
    Afaf; Acrosome formation-associated factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011517920.2XP_011516222.1  equatorin isoform X1

    Conserved Domains (1) summary
    pfam15339
    Location:1107
    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)