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ENTHD1 ENTH domain containing 1 [ Homo sapiens (human) ]

Gene ID: 150350, updated on 22-Jun-2021

Summary

Official Symbol
ENTHD1provided by HGNC
Official Full Name
ENTH domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26352
See related
Ensembl:ENSG00000176177
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
CACNA1I; dJ370M22.3
Expression
Restricted expression toward testis (RPKM 4.5) See more
Orthologs
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Genomic context

See ENTHD1 in Genome Data Viewer
Location:
22q13.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (39743044..39893884, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (40139049..40289764, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S19 binding protein 1 Neighboring gene calcium voltage-gated channel subunit alpha1 I Neighboring gene MTFR2 pseudogene 2 Neighboring gene RN7SK pseudogene 210 Neighboring gene ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1 Neighboring gene GRB2 related adaptor protein 2 Neighboring gene translation machinery-associated protein 7 -like Neighboring gene family with sequence similarity 83 member F Neighboring gene TNRC6B divergent transcript

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25421

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of clathrin vesicle coat IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in endosome 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 

General protein information

Preferred Names
ENTH domain-containing protein 1
Names
dJ370M22.3 (EPSIN 2B)
epsin-2B

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_152512.4NP_689725.2  ENTH domain-containing protein 1

    See identical proteins and their annotated locations for NP_689725.2

    Status: VALIDATED

    Source sequence(s)
    BC033895
    Consensus CDS
    CCDS13998.1
    UniProtKB/Swiss-Prot
    Q8IYW4
    Related
    ENSP00000317431.6, ENST00000325157.7
    Conserved Domains (1) summary
    pfam01417
    Location:14137
    ENTH; ENTH domain

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    39743044..39893884 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724150.3XP_006724213.1  ENTH domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    pfam01417
    Location:184
    ENTH; ENTH domain
  2. XM_011529928.2XP_011528230.1  ENTH domain-containing protein 1 isoform X4

    Conserved Domains (1) summary
    pfam01417
    Location:14117
    ENTH; ENTH domain
  3. XM_011529927.2XP_011528229.1  ENTH domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    pfam01417
    Location:14137
    ENTH; ENTH domain
  4. XM_006724149.3XP_006724212.1  ENTH domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006724212.1

    UniProtKB/Swiss-Prot
    Q8IYW4
    Conserved Domains (1) summary
    pfam01417
    Location:14137
    ENTH; ENTH domain
  5. XM_006724151.2XP_006724214.1  ENTH domain-containing protein 1 isoform X5

    See identical proteins and their annotated locations for XP_006724214.1

  6. XM_011529930.2XP_011528232.1  ENTH domain-containing protein 1 isoform X6

  7. XM_011529931.2XP_011528233.1  ENTH domain-containing protein 1 isoform X7

    Conserved Domains (1) summary
    pfam01417
    Location:14137
    ENTH; ENTH domain
  8. XM_006724153.3XP_006724216.1  ENTH domain-containing protein 1 isoform X8

    Conserved Domains (1) summary
    pfam01417
    Location:14137
    ENTH; ENTH domain
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