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CLINT1 clathrin interactor 1 [ Homo sapiens (human) ]

Gene ID: 9685, updated on 3-Jun-2018
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]
Expression
Ubiquitous expression in bone marrow (RPKM 39.0), gall bladder (RPKM 37.4) and 25 other tissues See more
Orthologs
See CLINT1 in Genome Data Viewer
Location:
5q33.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

  • 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 Jun 15 11:32:44 2016

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 HDA 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 HDA 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 (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:329407
    Nucleoporin_FG; Nucleoporin FG repeat region
  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 (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:329407
    Nucleoporin_FG; Nucleoporin FG repeat region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017010087.2XP_016865576.1  clathrin interactor 1 isoform X2

  2. XM_011534701.3XP_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_017010088.2XP_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
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