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

    Gene ID: 150350, updated on 2-Nov-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, Nov 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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    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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