2. Gene
  3. CLINT1 - clathrin interactor 1 Gene

CLINT1 - clathrin interactor 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ENTH; EPN4; EPNR; CLINT

Gene ID: 9685 | Gene type: protein coding

About CLINT1

Cytogenetic location: 5q33.3 Genomic coordinates (GRCh38): 5:157,785,747-157,859,145 (from NCBI)

This gene has 10 transcripts (splice variants), 281 orthologues and 5 paralogues. Ubiquitous expression in bone marrow (RPKM 39.0), gall bladder (RPKM 37.4) and 25 other tissues.

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]

CLINT1 Products(3)

mRNA Protein Name
NM_001195555.2 NP_001182484.1 clathrin interactor 1 isoform 1
NM_001195556.2 NP_001182485.1 clathrin interactor 1 isoform 3
NM_014666.4 NP_055481.1 clathrin interactor 1 isoform 2
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables clathrin binding IPI
IPI: Inferred from physical interaction
12429846 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12429846 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
10942595 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLINT1 Protein Structure

ENTH

ENTH: ENTH domain (21 - 145)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 625 a.a.
Protein Preferred Names Protein Names

clathrin interactor 1

clathrin interacting protein localized in the trans-Golgi region

Related Diseases

Diseases Alias
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Erythrocytosis, Familial, 7

ECYT7

Erythrocytosis 7

Familial Erythrocytosis 7

Erythrocytosis, Alpha-Globin Type

Polycythemia, Alpha-Globin Type

Alpha-Globin Type Erythrocytosis

Alpha-Globin Type Polycythemia
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02809 CLINT1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CLINT1 RGD RGD:1303328
Felis catus CLINT1 VGNC VGNC:97382
Mus musculus CLINT1 MGD MGI:2144243
Canis familiaris CLINT1 VGNC VGNC:39342
Bos taurus CLINT1 VGNC VGNC:27443
Macaca mulatta CLINT1 VGNC VGNC:84289