1. Gene
  2. CLINT1 - clathrin interactor 1 Gene

CLINT1 - clathrin interactor 1 Gene

中文名称:网格蛋白相互作用体 1

种属: Homo sapiens

同用名: ENTH; EPN4; EPNR; CLINT

基因 ID: 9685 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质与内吞衔接蛋白的 epsin 家族相似。编码的蛋白质与网格蛋白、衔接蛋白 AP-1 和磷酸肌醇相互作用。这种蛋白质可能参与网格蛋白包被囊泡的形成以及跨高尔基体网络和核内体之间的运输。该基因的突变与精神分裂症和精神病的易感性有关。交替剪接导致多个转录本变体。[RefSeq 提供,2010 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables clathrin binding IPI
IPI: 通过物理相互作用推断
12429846 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12429846 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
10942595 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CLINT1 蛋白结构

ENTH

ENTH: ENTH domain (21 - 145)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 625 a.a.
蛋白主名 其他名称

clathrin interactor 1

clathrin interacting protein localized in the trans-Golgi region

CLINT1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
CLINT1 Q14677 Ap1g1 Mus musculus P22892 14675752
种属内
CLINT1 Q14677 KIF1B Homo sapiens O60333-2 32814053
种属内
CLINT1 Q14677 KIF1B Homo sapiens O60333-2 32814053
种属内
CLINT1 Q14677 KIF1B Homo sapiens O60333-2 32814053
种属内
CLINT1 Q14677 BMP2K Homo sapiens Q9NSY1 33961781
种属内
CLINT1 Q14677 GDPD5 Homo sapiens Q8WTR4-3 26871637
种属内
CLINT1 Q14677 GDPD5 Homo sapiens Q8WTR4-3 26871637
种属内
CLINT1 Q14677 GDPD5 Homo sapiens Q8WTR4-3 26871637
种属内
CLINT1 Q14677 MAP1LC3B Homo sapiens Q9GZQ8 20562859
种属内
CLINT1 Q14677 WFS1 Homo sapiens O76024 32814053
种属内
CLINT1 Q14677 WFS1 Homo sapiens O76024 32814053
种属内
CLINT1 Q14677 WFS1 Homo sapiens O76024 32814053
种属内
CLINT1 Q14677 GABARAPL1 Homo sapiens Q9H0R8 20562859
种属间
CLINT1 Q14677 Vti1b Mus musculus O88384
ITC
18033301
种属间
CLINT1 Q14677 Vti1b Mus musculus O88384 18033301
种属间
CLINT1 Q14677 Vti1b Mus musculus O88384 18033301
种属间
CLINT1 Q14677 P29991-PRO_0000037943 Dengue virus type 2 P29991-PRO_0000037943
SLC
35452674
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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