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CLINT1 (clathrin interactor 1)

Identity

Alias (NCBI)CLINT
ENTH
EPN4
EPNR
HGNC (Hugo) CLINT1
HGNC Alias symbENTH
KIAA0171
EPNR
CLINT
LocusID (NCBI) 9685
Atlas_Id 61888
Location 5q33.3  [Link to chromosome band 5q33]
Location_base_pair Starts at 157785747 and ends at 157859145 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CLINT1 (5q33.3) / CLINT1 (5q33.3)CLINT1 (5q33.3) / MARCH11 (5p15.1)CLINT1 (5q33.3) / MEF2C (5q14.3)
CLINT1 (5q33.3) / NEDD9 (6p24.2)HARS (5q31.3) / CLINT1 (5q33.3)HFM1 (1p22.2) / CLINT1 (5q33.3)
NEDD9 (6p24.2) / CLINT1 (5q33.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(5;5)(q14;q33) CLINT1/MEF2C
t(5;5)(q14;q33) CLINT1/MEF2C

External links

 

Nomenclature
HGNC (Hugo)CLINT1   23186
Cards
Entrez_Gene (NCBI)CLINT1    clathrin interactor 1
AliasesCLINT; ENTH; EPN4; EPNR
GeneCards (Weizmann)CLINT1
Ensembl hg19 (Hinxton)ENSG00000113282 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113282 [Gene_View]  ENSG00000113282 [Sequence]  chr5:157785747-157859145 [Contig_View]  CLINT1 [Vega]
ICGC DataPortalENSG00000113282
TCGA cBioPortalCLINT1
AceView (NCBI)CLINT1
Genatlas (Paris)CLINT1
SOURCE (Princeton)CLINT1
Genetics Home Reference (NIH)CLINT1
Genomic and cartography
GoldenPath hg38 (UCSC)CLINT1  -     chr5:157785747-157859145 -  5q33.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLINT1  -     5q33.3   [Description]    (hg19-Feb_2009)
GoldenPathCLINT1 - 5q33.3 [CytoView hg19]  CLINT1 - 5q33.3 [CytoView hg38]
ImmunoBaseENSG00000113282
Genome Data Viewer NCBICLINT1 [Mapview hg19]  
OMIM607265   
Gene and transcription
Genbank (Entrez)AF434813 AK092765 AK128594 AK300257 AL529948
RefSeq transcript (Entrez)NM_001195555 NM_001195556 NM_014666
Consensus coding sequences : CCDS (NCBI)CLINT1
Gene ExpressionCLINT1 [ NCBI-GEO ]   CLINT1 [ EBI - ARRAY_EXPRESS ]   CLINT1 [ SEEK ]   CLINT1 [ MEM ]
Gene Expression Viewer (FireBrowse)CLINT1 [ Firebrowse - Broad ]
GenevisibleExpression of CLINT1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9685
GTEX Portal (Tissue expression)CLINT1
Human Protein AtlasENSG00000113282-CLINT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14677   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14677  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14677
PhosPhoSitePlusQ14677
Domaine pattern : Prosite (Expaxy)ENTH (PS50942)   
Domains : Interpro (EBI)CLINT1    ENTH    ENTH_VHS   
Domain families : Pfam (Sanger)ENTH (PF01417)   
Domain families : Pfam (NCBI)pfam01417   
Domain families : Smart (EMBL)ENTH (SM00273)  
Conserved Domain (NCBI)CLINT1
PDB (RSDB)1XGW    2QY7    2V8S   
PDB Europe1XGW    2QY7    2V8S   
PDB (PDBSum)1XGW    2QY7    2V8S   
PDB (IMB)1XGW    2QY7    2V8S   
Structural Biology KnowledgeBase1XGW    2QY7    2V8S   
SCOP (Structural Classification of Proteins)1XGW    2QY7    2V8S   
CATH (Classification of proteins structures)1XGW    2QY7    2V8S   
SuperfamilyQ14677
AlphaFold pdb e-kbQ14677   
Human Protein Atlas [tissue]ENSG00000113282-CLINT1 [tissue]
HPRD06273
Protein Interaction databases
DIP (DOE-UCLA)Q14677
IntAct (EBI)Q14677
BioGRIDCLINT1
STRING (EMBL)CLINT1
ZODIACCLINT1
Ontologies - Pathways
QuickGOQ14677
Ontology : AmiGOprotein binding  phospholipid binding  nucleoplasm  endosome  Golgi apparatus  cytosol  plasma membrane  post-Golgi vesicle-mediated transport  endocytosis  membrane  clathrin vesicle coat  clathrin binding  clathrin binding  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  cadherin binding  clathrin coat assembly  perinuclear region of cytoplasm  
Ontology : EGO-EBIprotein binding  phospholipid binding  nucleoplasm  endosome  Golgi apparatus  cytosol  plasma membrane  post-Golgi vesicle-mediated transport  endocytosis  membrane  clathrin vesicle coat  clathrin binding  clathrin binding  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  cadherin binding  clathrin coat assembly  perinuclear region of cytoplasm  
NDEx NetworkCLINT1
Atlas of Cancer Signalling NetworkCLINT1
Wikipedia pathwaysCLINT1
Orthology - Evolution
OrthoDB9685
GeneTree (enSembl)ENSG00000113282
Phylogenetic Trees/Animal Genes : TreeFamCLINT1
Homologs : HomoloGeneCLINT1
Homology/Alignments : Family Browser (UCSC)CLINT1
Gene fusions - Rearrangements
Fusion : QuiverCLINT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLINT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLINT1
dbVarCLINT1
ClinVarCLINT1
MonarchCLINT1
1000_GenomesCLINT1 
Exome Variant ServerCLINT1
GNOMAD BrowserENSG00000113282
Varsome BrowserCLINT1
ACMGCLINT1 variants
VarityQ14677
Genomic Variants (DGV)CLINT1 [DGVbeta]
DECIPHERCLINT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLINT1 
Mutations
ICGC Data PortalCLINT1 
TCGA Data PortalCLINT1 
Broad Tumor PortalCLINT1
OASIS PortalCLINT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLINT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCLINT1
Mutations and Diseases : HGMDCLINT1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCLINT1
DgiDB (Drug Gene Interaction Database)CLINT1
DoCM (Curated mutations)CLINT1
CIViC (Clinical Interpretations of Variants in Cancer)CLINT1
Cancer3DCLINT1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607265   
Orphanet
DisGeNETCLINT1
MedgenCLINT1
Genetic Testing Registry CLINT1
NextProtQ14677 [Medical]
GENETestsCLINT1
Target ValidationCLINT1
Huge Navigator CLINT1 [HugePedia]
ClinGenCLINT1
Clinical trials, drugs, therapy
MyCancerGenomeCLINT1
Protein Interactions : CTDCLINT1
Pharm GKB GenePA145149115
PharosQ14677
Clinical trialCLINT1
Miscellaneous
canSAR (ICR)CLINT1
HarmonizomeCLINT1
DataMed IndexCLINT1
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCLINT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:46:17 CEST 2021
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