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CLINT1 clathrin interactor 1 [ Homo sapiens (human) ]

Gene ID: 9685, updated on 27-Nov-2024

Summary

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Official Symbol
CLINT1provided by HGNC
Official Full Name
clathrin interactor 1provided by HGNC
Primary source
HGNC:HGNC:23186
See related
Ensembl:ENSG00000113282 MIM:607265; AllianceGenome:HGNC:23186
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
mouse all
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Genomic context

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See CLINT1 in Genome Data Viewer
Location:
5q33.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157785747..157859145, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (158307922..158381316, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (157212755..157286153, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:157171083-157171583 Neighboring gene tRNA-histidine guanylyltransferase 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16564 Neighboring gene LSM11, U7 small nuclear RNA associated Neighboring gene RNA, U6 small nuclear 260, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:157285783-157286364 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:157308515-157309160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16565 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:157346675-157346817 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:157353623-157354424 Neighboring gene uncharacterized LOC124901193 Neighboring gene ribosomal protein lateral stalk subunit P2 pseudogene 2

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
  • 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. The epsin 4 gene is associated with psychotic disorders in families of Latin American origin. Escamilla M, et al. Schizophr Res, 2008 Dec. PMID 18929466
  2. Failure to confirm an association between Epsin 4 and schizophrenia in a Japanese population. Richards M, et al. J Neural Transm (Vienna), 2008 Sep. PMID 18696005
  3. The Epsin 4 gene on chromosome 5q, which encodes the clathrin-associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia. Pimm J, et al. Am J Hum Genet, 2005 May. PMID 15793701, Free PMC Article
  4. Clathrin adaptor epsinR is required for retrograde sorting on early endosomal membranes. Saint-Pol A, et al. Dev Cell, 2004 Apr. PMID 15068792
  5. Family-based association study of Epsin 4 and Schizophrenia. Tang RQ, et al. Mol Psychiatry, 2006 Apr. PMID 16402136

See all (144) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The cargo adapter protein CLINT1 is phosphorylated by the Numb-associated kinase BIKE and mediates dengue virus infection.
    Title: The cargo adapter protein CLINT1 is phosphorylated by the Numb-associated kinase BIKE and mediates dengue virus infection.
  2. Although epsinR has been shown to be a cargo adaptor, the present study indicates that it is an order of magnitude more abundant in CCVs than its known cargo protein, vti1b, suggesting that it may have other functions as well.
    Title: Contributions of epsinR and gadkin to clathrin-mediated intracellular trafficking.
  3. These results do not support a significant role of GRIA1 or CLINT1 in the development of schizophrenia in the German population.
    Title: Association study of the GRIA1 and CLINT1 (Epsin 4) genes in a German schizophrenia sample.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Variation in the Epsin 4 gene is significantly associated with psychotic disorder in this Latino population
    Title: The epsin 4 gene is associated with psychotic disorders in families of Latin American origin.
  6. Our results suggest that the examined region of Epsin 4 does not have a major influence on susceptibility to schizophrenia in Japanese.
    Title: Failure to confirm an association between Epsin 4 and schizophrenia in a Japanese population.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
  8. characterization of the molecular details governing the sorting of a SNARE into clathrin-coated vesicles, namely the direct recognition of the three-helical bundle H(abc) domain of the mouse SNARE Vti1b by the human clathrin adaptor epsinR
    Title: A SNARE-adaptor interaction is a new mode of cargo recognition in clathrin-coated vesicles.
  9. might participate in the formation of clathrin-coated vesicles at the level of the trans-Golgi network and remains associated with the vesicles longer than clathrin and adaptors
    Title: Clint: a novel clathrin-binding ENTH-domain protein at the Golgi.
  10. epsinR is an adaptor for vesicle-associated soluble NSF attachment protein receptor
    Title: EpsinR is an adaptor for the SNARE protein Vti1b.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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)

HIV-1 interactions

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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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ46753, KIAA0171

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding HDA PubMed 
enables clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables clathrin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 clathrin coat assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of clathrin vesicle coat IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
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
clathrin interactor 1
Names
clathrin interacting protein localized in the trans-Golgi region
enthoprotin
epsin 4
epsin-related protein
epsinR

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.

Genomic

  1. NG_027820.2 RefSeqGene

    Range
    5031..78429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195555.2 → NP_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/TrEMBL
    A0A0S2Z5H3
    Related
    ENSP00000429824.1, ENST00000523908.5
    Conserved Domains (2) summary
    cd16989
    Location:24 → 149
    ENTH_EpsinR; Epsin N-Terminal Homology (ENTH) domain of Epsin-related protein
    pfam13634
    Location:329 → 407
    Nucleoporin_FG; Nucleoporin FG repeat region

  2. NM_001195556.2 → NP_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, D79993
    Consensus CDS
    CCDS56388.1
    UniProtKB/Swiss-Prot
    Q14677
    Related
    ENSP00000429345.1, ENST00000523094.5
    Conserved Domains (1) summary
    cd03571
    Location:5 → 128
    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_014666.4 → NP_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
    B7Z6F8, D3DQJ6, Q14677, Q8NAF1, Q96E05
    UniProtKB/TrEMBL
    A0A0S2Z4Y4
    Related
    ENSP00000388340.2, ENST00000411809.7
    Conserved Domains (2) summary
    cd16989
    Location:24 → 149
    ENTH_EpsinR; Epsin N-Terminal Homology (ENTH) domain of Epsin-related protein
    pfam13634
    Location:329 → 407
    Nucleoporin_FG; Nucleoporin FG repeat region

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    157785747..157859145 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_011534701.4 → XP_011533003.1  clathrin interactor 1 isoform X1

    Conserved Domains (2) summary
    cd03571
    Location:23 → 146
    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:302 → 400
    Nucleoporin_FG; Nucleoporin FG repeat region

  3. XM_017010088.3 → XP_016865577.1  clathrin interactor 1 isoform X3

    Conserved Domains (1) summary
    cd16989
    Location:24 → 149
    ENTH_EpsinR; Epsin N-Terminal Homology (ENTH) domain of Epsin-related protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    158307922..158381316 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353900.1 → XP_054209875.1  clathrin interactor 1 isoform X2

  2. XM_054353899.1 → XP_054209874.1  clathrin interactor 1 isoform X1

  3. XM_054353901.1 → XP_054209876.1  clathrin interactor 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14677.1 GenPept UniProtKB/Swiss-Prot:Q14677

Gene LinkOut

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