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Aliases for CLINT1 Gene

Aliases for CLINT1 Gene

  • Clathrin Interactor 1 2 3 5
  • Epsin-Related Protein 3 4
  • Enthoprotin 3 4
  • EpsinR 3 4
  • CLINT 3 4
  • ENTH 3 4
  • EPN4 3 4
  • EPNR 3 4
  • Clathrin Interacting Protein Localized In The Trans-Golgi Region 3
  • Clathrin-Interacting Protein Localized In The Trans-Golgi Region 4
  • KIAA0171 4
  • Epsin 4 3
  • Epsin-4 4

External Ids for CLINT1 Gene

Previous GeneCards Identifiers for CLINT1 Gene

  • GC05M157146
  • GC05M152305
  • GC05M157212

Summaries for CLINT1 Gene

Entrez Gene Summary for CLINT1 Gene

  • 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]

GeneCards Summary for CLINT1 Gene

CLINT1 (Clathrin Interactor 1) is a Protein Coding gene. Diseases associated with CLINT1 include Schizophrenia and Cataract 8, Multiple Types. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include lipid binding and clathrin binding. An important paralog of this gene is EPN3.

UniProtKB/Swiss-Prot for CLINT1 Gene

  • Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly.

Gene Wiki entry for CLINT1 Gene

Additional gene information for CLINT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLINT1 Gene

Genomics for CLINT1 Gene

GeneHancer (GH) Regulatory Elements for CLINT1 Gene

Promoters and enhancers for CLINT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I157856 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 550.8 +0.8 812 2.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 E2F8 ZNF143 CLINT1 RNU6-260P RNU2-48P NIPAL4 ADAM19 GC05M157820
GH05I157912 Enhancer 1 Ensembl ENCODE 15.8 -55.2 -55205 4.3 FOXA2 BMI1 IRF4 RAD21 RFX5 YY1 ATF7 RCOR1 IKZF2 RXRA CLINT1 RNU6-260P RNU2-48P GC05M157932 GC05M157881
GH05I157917 Enhancer 1.1 Ensembl ENCODE 10.9 -59.9 -59925 3 MZF1 BATF IRF4 RAD21 CHAMP1 ZNF766 ZNF143 RCOR1 IKZF2 RUNX3 CLINT1 RNU6-260P RNU2-48P GC05M157932 GC05M157881
GH05I157948 Enhancer 1.1 Ensembl ENCODE 10.6 -89.8 -89801 1.2 HDGF ELF3 PKNOX1 RB1 MZF1 ZSCAN9 RAD21 YY1 RFX5 ZNF335 THG1L RNU2-48P CLINT1 RNU6-260P PIR31781 RPLP2P2
GH05I157923 Enhancer 0.6 ENCODE 14.6 -65.7 -65653 2.3 ZFHX2 ZNF766 RFX1 CEBPB FOS E4F1 ZNF395 EGR2 CLINT1 RNU2-48P RNU6-260P LOC102724404 GC05M157932 GC05M157881
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CLINT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CLINT1 gene promoter:

Genomic Locations for CLINT1 Gene

Genomic Locations for CLINT1 Gene
chr5:157,785,743-157,859,175
(GRCh38/hg38)
Size:
73,433 bases
Orientation:
Minus strand
chr5:157,212,751-157,286,183
(GRCh37/hg19)

Genomic View for CLINT1 Gene

Genes around CLINT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLINT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLINT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLINT1 Gene

Proteins for CLINT1 Gene

  • Protein details for CLINT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14677-EPN4_HUMAN
    Recommended name:
    Clathrin interactor 1
    Protein Accession:
    Q14677
    Secondary Accessions:
    • B7Z6F8
    • D3DQJ6
    • Q8NAF1
    • Q96E05

    Protein attributes for CLINT1 Gene

    Size:
    625 amino acids
    Molecular mass:
    68259 Da
    Quaternary structure:
    • Binds clathrin heavy chain, GGA2, AP-2 and AP1G1 (PubMed:12213833, PubMed:12429846, PubMed:12538641). Interacts with VTI1B (PubMed:18033301).
    SequenceCaution:
    • Sequence=BAA11488.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CLINT1 Gene

    Alternative splice isoforms for CLINT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLINT1 Gene

Post-translational modifications for CLINT1 Gene

  • Ubiquitination at posLast=66, posLast=158158, posLast=183183, posLast=200200, Lys207, posLast=218218, Lys297, Lys314, Lys467, and Lys453
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CLINT1 Gene

Domains & Families for CLINT1 Gene

Gene Families for CLINT1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CLINT1 Gene

Suggested Antigen Peptide Sequences for CLINT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14677

UniProtKB/Swiss-Prot:

EPN4_HUMAN :
  • Belongs to the epsin family.
Family:
  • Belongs to the epsin family.
genes like me logo Genes that share domains with CLINT1: view

Function for CLINT1 Gene

Molecular function for CLINT1 Gene

UniProtKB/Swiss-Prot Function:
Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly.

Phenotypes From GWAS Catalog for CLINT1 Gene

Gene Ontology (GO) - Molecular Function for CLINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12429846
GO:0008289 lipid binding IEA --
GO:0030276 clathrin binding IEA,IPI 12429846
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with CLINT1: view
genes like me logo Genes that share phenotypes with CLINT1: view

Animal Model Products

miRNA for CLINT1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CLINT1 Gene

Localization for CLINT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLINT1 Gene

Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Found throughout the cell, with the exception of the cell surface. Concentrated in the perinuclear region and associated with clathrin-coated vesicles close to the trans-Golgi network.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLINT1 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
plasma membrane 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA,IDA 10942595
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with CLINT1: view

Pathways & Interactions for CLINT1 Gene

genes like me logo Genes that share pathways with CLINT1: view

Gene Ontology (GO) - Biological Process for CLINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0048268 clathrin coat assembly IEA --
genes like me logo Genes that share ontologies with CLINT1: view

No data available for SIGNOR curated interactions for CLINT1 Gene

Drugs & Compounds for CLINT1 Gene

(2) Additional Compounds for CLINT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLINT1: view

Transcripts for CLINT1 Gene

Unigene Clusters for CLINT1 Gene

Clathrin interactor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLINT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e
SP1: - - - -
SP2: - - - -
SP3:
SP4: - - -
SP5: -
SP6:

Relevant External Links for CLINT1 Gene

GeneLoc Exon Structure for
CLINT1
ECgene alternative splicing isoforms for
CLINT1

Expression for CLINT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLINT1 Gene

Protein differential expression in normal tissues from HIPED for CLINT1 Gene

This gene is overexpressed in Nasal epithelium (9.6), Peripheral blood mononuclear cells (8.6), Platelet (7.4), and Skin (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CLINT1 Gene



Protein tissue co-expression partners for CLINT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLINT1 Gene:

CLINT1

SOURCE GeneReport for Unigene cluster for CLINT1 Gene:

Hs.644000

mRNA Expression by UniProt/SwissProt for CLINT1 Gene:

Q14677-EPN4_HUMAN
Tissue specificity: Ubiquitously expressed at low to intermediate levels.

Evidence on tissue expression from TISSUES for CLINT1 Gene

  • Liver(4.7)
  • Bone marrow(4.4)
  • Intestine(4.4)
  • Lung(4.3)
  • Skin(4.3)
  • Nervous system(3.5)
  • Kidney(2.7)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with CLINT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLINT1 Gene

Orthologs for CLINT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CLINT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLINT1 33
  • 99.67 (n)
cow
(Bos Taurus)
Mammalia CLINT1 33 34
  • 95.8 (n)
dog
(Canis familiaris)
Mammalia CLINT1 33 34
  • 95.13 (n)
rat
(Rattus norvegicus)
Mammalia Clint1 33
  • 90.68 (n)
mouse
(Mus musculus)
Mammalia Clint1 33 16 34
  • 89.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CLINT1 34
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLINT1 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLINT1 33 34
  • 81.8 (n)
lizard
(Anolis carolinensis)
Reptilia CLINT1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clint1 33
  • 71.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1440 33
zebrafish
(Danio rerio)
Actinopterygii clint1a 33 34
  • 66.18 (n)
CLINT1 (2 of 2) 34
  • 56 (a)
OneToMany
wufa05f05 33
fruit fly
(Drosophila melanogaster)
Insecta lqfR 33 34
  • 50.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004504 33
  • 48.41 (n)
worm
(Caenorhabditis elegans)
Secernentea rsd-3 34
  • 28 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.952 34
  • 61 (a)
OneToOne
Species where no ortholog for CLINT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CLINT1 Gene

ENSEMBL:
Gene Tree for CLINT1 (if available)
TreeFam:
Gene Tree for CLINT1 (if available)

Paralogs for CLINT1 Gene

Paralogs for CLINT1 Gene

genes like me logo Genes that share paralogs with CLINT1: view

Variants for CLINT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CLINT1 Gene

EPN4_HUMAN-Q14677
Genetic variations in CLINT1 may contribute to susceptibility to schizophrenia (SCZD1) and psychotic disorders in some populations.

Sequence variations from dbSNP and Humsavar for CLINT1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000006570 -- 157,851,299(-) G/C intron_variant
rs1000024134 -- 157,840,633(-) T/C intron_variant
rs1000036771 -- 157,823,739(-) A/C intron_variant
rs1000062608 -- 157,857,254(-) G/T intron_variant
rs1000145384 -- 157,809,138(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CLINT1 Gene

Variant ID Type Subtype PubMed ID
esv2759389 CNV loss 17122850
nsv1023774 CNV loss 25217958
nsv1027950 CNV loss 25217958
nsv1029742 CNV gain 25217958
nsv471941 CNV novel sequence insertion 20440878
nsv479605 CNV novel sequence insertion 20440878
nsv509097 CNV insertion 20534489
nsv521000 CNV loss 19592680

Variation tolerance for CLINT1 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLINT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLINT1

Disorders for CLINT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CLINT1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
cataract 8, multiple types
  • ctrct8
xanthinuria
  • xanthinuria, type i
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CLINT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CLINT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLINT1 Gene

Publications for CLINT1 Gene

  1. The Epsin 4 gene on chromosome 5q, which encodes the clathrin-associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia. (PMID: 15793701) Pimm J … Gurling H (American journal of human genetics 2005) 3 4 22 44 58
  2. Enthoprotin: a novel clathrin-associated protein identified through subcellular proteomics. (PMID: 12213833) Wasiak S … McPherson PS (The Journal of cell biology 2002) 2 3 4 22 58
  3. Failure to confirm an association between Epsin 4 and schizophrenia in a Japanese population. (PMID: 18696005) Richards M … Kunugi H (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 22 44 58
  4. The epsin 4 gene is associated with psychotic disorders in families of Latin American origin. (PMID: 18929466) Escamilla M … Dassori A (Schizophrenia research 2008) 3 22 44 58
  5. A SNARE-adaptor interaction is a new mode of cargo recognition in clathrin-coated vesicles. (PMID: 18033301) Miller SE … Owen DJ (Nature 2007) 3 4 22 58

Products for CLINT1 Gene

Sources for CLINT1 Gene

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