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

Gene ID: 150350, updated on 28-Oct-2024

Summary

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Official Symbol
ENTHD1provided by HGNC
Official Full Name
ENTH domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26352
See related
Ensembl:ENSG00000176177 AllianceGenome:HGNC:26352
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
Summary
Predicted to enable clathrin binding activity and phospholipid binding activity. Predicted to be involved in endocytosis. Predicted to be part of clathrin vesicle coat. Predicted to be active in endosome and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Restricted expression toward testis (RPKM 4.5) See more
Orthologs
mouse all
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Genomic context

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See ENTHD1 in Genome Data Viewer
Location:
22q13.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (39743044..39893760, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40214020..40364748, complement)
RS_2024_09 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 uncharacterized LOC124905120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39953934-39954532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39970777-39971278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39987813-39988722 Neighboring gene calcium voltage-gated channel subunit alpha1 I Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19072 Neighboring gene Sharpr-MPRA regulatory region 12417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40022927-40023476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40023477-40024025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40030871-40031590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40047218-40048148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40051895-40052396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40059793-40060322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40101482-40102046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40102047-40102609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40102610-40103173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40115444-40116163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40114723-40115443 Neighboring gene MTFR2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19073 Neighboring gene RN7SK pseudogene 210 Neighboring gene ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19075 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:40328916-40329580 Neighboring gene GRB2 related adaptor protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40335123-40335875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40355047-40355548 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40361232-40361409 Neighboring gene uncharacterized LOC124905155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40390673-40391306 Neighboring gene translation machinery associated 7 homolog B

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 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. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
  2. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
enables phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
Component Evidence Code Pubs
part_of clathrin vesicle coat IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
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
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_152512.4 → NP_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
    B0QYD5, Q5H9F7, Q8IYW4, Q96LK3
    Related
    ENSP00000317431.6, ENST00000325157.7
    Conserved Domains (1) summary
    pfam01417
    Location:14 → 137
    ENTH; ENTH domain

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    39743044..39893760 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724150.4 → XP_006724213.1  ENTH domain-containing protein 1 isoform X3

    Conserved Domains (1) summary
    pfam01417
    Location:1 → 84
    ENTH; ENTH domain

  2. XM_011529928.3 → XP_011528230.1  ENTH domain-containing protein 1 isoform X4

    Conserved Domains (1) summary
    pfam01417
    Location:14 → 117
    ENTH; ENTH domain

  3. XM_011529927.3 → XP_011528229.1  ENTH domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    pfam01417
    Location:14 → 137
    ENTH; ENTH domain

  4. XM_006724149.4 → XP_006724212.1  ENTH domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006724212.1

    UniProtKB/Swiss-Prot
    B0QYD5, Q5H9F7, Q8IYW4, Q96LK3
    Conserved Domains (1) summary
    pfam01417
    Location:14 → 137
    ENTH; ENTH domain

  5. XM_011529930.3 → XP_011528232.1  ENTH domain-containing protein 1 isoform X5

    UniProtKB/TrEMBL
    Q8NA53

  6. XM_011529931.3 → XP_011528233.1  ENTH domain-containing protein 1 isoform X6

    Conserved Domains (1) summary
    pfam01417
    Location:14 → 137
    ENTH; ENTH domain

  7. XM_006724153.4 → XP_006724216.1  ENTH domain-containing protein 1 isoform X7

    Conserved Domains (1) summary
    pfam01417
    Location:14 → 137
    ENTH; ENTH domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    40214020..40364748 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325151.1 → XP_054181126.1  ENTH domain-containing protein 1 isoform X3

  2. XM_054325152.1 → XP_054181127.1  ENTH domain-containing protein 1 isoform X4

  3. XM_054325150.1 → XP_054181125.1  ENTH domain-containing protein 1 isoform X2

  4. XM_054325149.1 → XP_054181124.1  ENTH domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B0QYD5, Q5H9F7, Q8IYW4, Q96LK3

  5. XM_054325153.1 → XP_054181128.1  ENTH domain-containing protein 1 isoform X5

  6. XM_054325154.1 → XP_054181129.1  ENTH domain-containing protein 1 isoform X6

  7. XM_054325155.1 → XP_054181130.1  ENTH domain-containing protein 1 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYW4.1 GenPept UniProtKB/Swiss-Prot:Q8IYW4

Gene LinkOut

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