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EDDM3A epididymal protein 3A [ Homo sapiens (human) ]

Gene ID: 10876, updated on 27-Nov-2024

Summary

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Official Symbol
EDDM3Aprovided by HGNC
Official Full Name
epididymal protein 3Aprovided by HGNC
Primary source
HGNC:HGNC:16978
See related
Ensembl:ENSG00000181562 MIM:611580; AllianceGenome:HGNC:16978
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
EP3A; HE3A; RAM1; FAM12A; HE3ALPHA; HE3-ALPHA
Summary
Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See EDDM3A in Genome Data Viewer
Location:
14q11.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20735946..20748380)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14933058..14945493)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21214046..21216539)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RAN binding protein 20 pseudogene Neighboring gene uncharacterized LOC107984671 Neighboring gene epididymal protein 3D, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:21219442-21220641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8094 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:21240614-21241376 Neighboring gene epididymal protein 3B Neighboring gene NANOG hESC enhancer GRCh37_chr14:21243094-21243697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8095 Neighboring gene ribonuclease A family member 6

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. Human epididymal proteins and sperm function during fertilization: un update. Lasserre A, et al. Biol Res, 2001. PMID 11715855
  2. Function of human epididymal proteins in sperm maturation. Kirchhoff C, et al. Andrologia, 1998 Aug-Sep. PMID 9739419
  3. Major human epididymis-specific gene product, HE3, is the first representative of a novel gene family. Kirchhoff C, et al. Mol Reprod Dev, 1994 Feb. PMID 7514008
  4. Molecular characterization of epididymal proteins. Kirchhoff C. Rev Reprod, 1998 May. PMID 9685187
  5. Comparative genomic analysis of eutherian ribonuclease A genes. Premzl M. Mol Genet Genomics, 2014 Apr. PMID 24337645

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

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

  • MGC119614, MGC119615

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in sperm displacement TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular space TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
epididymal secretory protein E3-alpha
Names
epididymis secretory sperm binding protein
epididymis-specific 3 alpha
family with sequence similarity 12, member A
human epididymis-specific 3 alpha
human epididymis-specific protein 3-alpha
ribonuclease A M1

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_006683.5 → NP_006674.2  epididymal secretory protein E3-alpha precursor

    Status: VALIDATED

    Source sequence(s)
    AL163636, BC096698, X76383
    Consensus CDS
    CCDS9556.1
    UniProtKB/Swiss-Prot
    Q14507, Q4KN33
    UniProtKB/TrEMBL
    W0UTC5
    Related
    ENSP00000315098.2, ENST00000326842.3

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    20735946..20748380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020934.3 → XP_016876423.1  epididymal secretory protein E3-alpha isoform X1

    UniProtKB/Swiss-Prot
    Q14507, Q4KN33
    UniProtKB/TrEMBL
    W0UTC5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    14933058..14945493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375281.1 → XP_054231256.1  epididymal secretory protein E3-alpha isoform X1

    UniProtKB/Swiss-Prot
    Q14507, Q4KN33
    UniProtKB/TrEMBL
    W0UTC5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14507.2 GenPept UniProtKB/Swiss-Prot:Q14507

Gene LinkOut

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