Gene Gene information from NCBI Gene database.
Entrez ID 9685
Gene name Clathrin interactor 1
Gene symbol CLINT1
Synonyms (NCBI Gene)
CLINTENTHEPN4EPNR
Chromosome 5
Chromosome location 5q33.3
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 ve
miRNA miRNA information provided by mirtarbase database.
226
miRTarBase ID miRNA Experiments Reference
MIRT000678 hsa-miR-145-5p qRT-PCRLuciferase reporter assayMicroarray 19915607
MIRT020844 hsa-miR-155-5p Proteomics 18668040
MIRT000678 hsa-miR-145-5p Reporter assay;Other 19915607
MIRT027639 hsa-miR-98-5p Microarray 19088304
MIRT029629 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12429846, 14675752, 18033301, 20562859, 26871637, 32814053, 33961781, 35452674
GO:0005543 Function Phospholipid binding IBA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607265 23186 ENSG00000113282
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14677
Protein name Clathrin interactor 1 (Clathrin-interacting protein localized in the trans-Golgi region) (Clint) (Enthoprotin) (Epsin-4) (Epsin-related protein) (EpsinR)
Protein 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. {ECO:0000269|PubMed:12429846
PDB 1XGW , 2QY7 , 2V8S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01417 ENTH 21 145 ENTH domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed at low to intermediate levels. {ECO:0000269|PubMed:12429846, ECO:0000269|PubMed:12538641}.
Sequence
MLNMWKVRELVDKATNVVMNYSEIESKVREATNDDPWGPSGQLMGEIAKATFMYEQFPEL
MNMLWSRMLKDNKKNWRRVYKSLLLLAYLIRNGSERVVTSAREHIYDLRSLENYHFVDEH
GKDQGINIRQKVKELVEFAQDDDRL
REERKKAKKNKDKYVGVSSDSVGGFRYSERYDPEP
KSKWDEEWDKNKSAFPFSDKLGELSDKIGSTIDDTISKFRRKDREDSPERCSDSDEEKKA
RRGRSPKGEFKDEEETVTTKHIHITQATETTTTRHKRTANPSKTIDLGAAAHYTGDKASP
DQNASTHTPQSSVKTSVPSSKSSGDLVDLFDGTSQSTGGSADLFGGFADFGSAAASGSFP
SQVTATSGNGDFGDWSAFNQAPSGPVASSGEFFGSASQPAVELVSGSQSALGPPPAASNS
SDLFDLMGSSQATMTSSQSMNFSMMSTNTVGLGLPMSRSQNTDMVQKSVSKTLPSTWSDP
SVNISLDNLLPGMQPSKPQQPSLNTMIQQQNMQQPMNVMTQSFGAVNLSSPSNMLPVRPQ
TNALIGGPMPMSMPNVMTGTMGMAPLGNTPMMNQSMMGMNMNIGMSAAGMGLTGTMGMGM
PNIAMTSGTVQPKQDAFANFANFSK
Sequence length 625
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Golgi Associated Vesicle Biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 30881993 Associate
★☆☆☆☆
Found in Text Mining only
Dermatitis Atopic Atopic dermatitis Pubtator 33069716 Associate
★☆☆☆☆
Found in Text Mining only
Nonorganic psychosis Nonorganic Psychosis BEFREE 16984960, 18929466
★☆☆☆☆
Found in Text Mining only
Psoriasis Psoriasis Pubtator 33069716 Associate
★☆☆☆☆
Found in Text Mining only
Psychotic Disorders Psychosis BEFREE 16984960, 18929466
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 15793701, 16402136, 16616458, 16984960, 18696005, 18929466
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia LHGDN 15793701, 16402136
★☆☆☆☆
Found in Text Mining only