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EHD3 EH domain containing 3 [ Homo sapiens (human) ]

Gene ID: 30845, updated on 8-Jul-2021

Summary

Official Symbol
EHD3provided by HGNC
Official Full Name
EH domain containing 3provided by HGNC
Primary source
HGNC:HGNC:3244
See related
Ensembl:ENSG00000013016 MIM:605891
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
PAST3
Expression
Broad expression in brain (RPKM 25.4), esophagus (RPKM 14.7) and 17 other tissues See more
Orthologs
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Genomic context

See EHD3 in Genome Data Viewer
Location:
2p23.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (31234152..31269451)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31457018..31492317)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985861 Neighboring gene calpain 14 Neighboring gene RNA, 5S ribosomal pseudogene 90 Neighboring gene ribosomal protein L21 pseudogene 70 Neighboring gene xanthine dehydrogenase

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?

Phenotypes

Associated conditions

Description Tests
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
GeneReviews: Not available
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
GeneReviews: Not available
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleic acid binding TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Golgi to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in early endosome to Golgi transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endocytic recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endocytic recycling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
involved_in protein homooligomerization IPI
Inferred from Physical Interaction
more info
PubMed 
involved_in protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within protein localization to plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in receptor recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cardiac conduction IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of cardiac muscle cell membrane potential IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of cardiac muscle contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in ciliary pocket membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endosome membrane TAS
Traceable Author Statement
more info
 
located_in focal adhesion HDA PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in recycling endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in recycling endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
EH domain-containing protein 3
Names
PAST homolog 3

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_014600.3NP_055415.1  EH domain-containing protein 3

    See identical proteins and their annotated locations for NP_055415.1

    Status: VALIDATED

    Source sequence(s)
    AF214736, AK316006, AL121657, BC033100, DA196836
    Consensus CDS
    CCDS1774.1
    UniProtKB/Swiss-Prot
    Q9NZN3
    Related
    ENSP00000327116.5, ENST00000322054.10
    Conserved Domains (4) summary
    smart00027
    Location:438531
    EH; Eps15 homology domain
    cd09913
    Location:60300
    EHD; Eps15 homology domain (EHD), C-terminal domain
    cd00052
    Location:448513
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam16880
    Location:3756
    EHD_N; N-terminal EH-domain containing protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    31234152..31269451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532806.2XP_011531108.1  EH domain-containing protein 3 isoform X1

    Conserved Domains (3) summary
    smart00027
    Location:225318
    EH; Eps15 homology domain
    cd00052
    Location:235300
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    cl21455
    Location:187
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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