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    CLINT1 clathrin interactor 1 [ Homo sapiens (human) ]

    Gene ID: 9685, updated on 6-Aug-2017
    Official Symbol
    CLINT1provided by HGNC
    Official Full Name
    clathrin interactor 1provided by HGNC
    Primary source
    HGNC:HGNC:23186
    See related
    Ensembl:ENSG00000113282 MIM:607265; Vega:OTTHUMG00000163527
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ENTH; EPN4; EPNR; CLINT
    Summary
    This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
    Orthologs
    Location:
    5q33.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (157785743..157859175, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (157212751..157286183, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene tRNA-histidine guanylyltransferase 1 like Neighboring gene LSM11, U7 small nuclear RNA associated Neighboring gene RNA, U6 small nuclear 260, pseudogene Neighboring gene ribosomal protein lateral stalk subunit P2 pseudogene 2 Neighboring gene RNA, U2 small nuclear 48, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies CLINT1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ46753, KIAA0171

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    clathrin coat assembly IEA
    Inferred from Electronic Annotation
    more info
     
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    clathrin interactor 1
    Names
    clathrin interacting protein localized in the trans-Golgi region
    enthoprotin
    epsin 4
    epsin-related protein
    epsinR

    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.

    Genomic

    1. NG_027820.1 RefSeqGene

      Range
      5001..78433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195555.1NP_001182484.1  clathrin interactor 1 isoform 1

      See identical proteins and their annotated locations for NP_001182484.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK300257, BC013091, BP246338, D79993
      Consensus CDS
      CCDS56389.1
      UniProtKB/Swiss-Prot
      Q14677
      UniProtKB/TrEMBL
      A0A0S2Z5H3
      Related
      ENSP00000429824.1, OTTHUMP00000224198, ENST00000523908.5, OTTHUMT00000374002
      Conserved Domains (1) summary
      cd03571
      Location:23146
      ENTH_epsin; ENTH domain, Epsin family; The epsin (Eps15 interactor) N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in clathrin-mediated endocytosis. A set of proteins previously designated ...
    2. NM_001195556.1NP_001182485.1  clathrin interactor 1 isoform 3

      See identical proteins and their annotated locations for NP_001182485.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC026407, AK092765, BC013091, BP246338, D79993
      Consensus CDS
      CCDS56388.1
      UniProtKB/Swiss-Prot
      Q14677
      Related
      ENSP00000429345.1, OTTHUMP00000224199, ENST00000523094.5, OTTHUMT00000374003
      Conserved Domains (1) summary
      cd03571
      Location:5128
      ENTH_epsin; ENTH domain, Epsin family; The epsin (Eps15 interactor) N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in clathrin-mediated endocytosis. A set of proteins previously designated ...
    3. NM_014666.3NP_055481.1  clathrin interactor 1 isoform 2

      See identical proteins and their annotated locations for NP_055481.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BC013091, BK000414, BP246338
      Consensus CDS
      CCDS47330.1
      UniProtKB/Swiss-Prot
      Q14677
      UniProtKB/TrEMBL
      A0A0S2Z4Y4
      Related
      ENSP00000388340.2, OTTHUMP00000224197, ENST00000411809.6, OTTHUMT00000374001
      Conserved Domains (1) summary
      cd03571
      Location:23146
      ENTH_epsin; ENTH domain, Epsin family; The epsin (Eps15 interactor) N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in clathrin-mediated endocytosis. A set of proteins previously designated ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      157785743..157859175 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010087.1XP_016865576.1  clathrin interactor 1 isoform X2

    2. XM_011534701.2XP_011533003.1  clathrin interactor 1 isoform X1

      Conserved Domains (2) summary
      cd03571
      Location:23146
      ENTH_epsin; ENTH domain, Epsin family; The epsin (Eps15 interactor) N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in clathrin-mediated endocytosis. A set of proteins previously designated ...
      pfam13634
      Location:302400
      Nucleoporin_FG; Nucleoporin FG repeat region
    3. XM_017010088.1XP_016865577.1  clathrin interactor 1 isoform X3

      Conserved Domains (2) summary
      cd03571
      Location:23146
      ENTH_epsin; ENTH domain, Epsin family; The epsin (Eps15 interactor) N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in clathrin-mediated endocytosis. A set of proteins previously designated ...
      pfam13634
      Location:302400
      Nucleoporin_FG; Nucleoporin FG repeat region

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      156645334..156718778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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