1. Gene
  2. CLTC - clathrin heavy chain Gene

CLTC - clathrin heavy chain Gene

中文名称:网格蛋白重链

种属: Homo sapiens

同用名: Hc; CHC; CHC17; MRD56; CLH-17; CLTCL2

基因 ID: 1213 | 基因类型: protein coding

关于 CLTC

Cytogenetic location: 17q23.1 Genomic coordinates (GRCh38): 17:59,619,895-59,696,956 (from NCBI)

This gene has 23 transcripts (splice variants), 298 orthologues, 2 paralogues and is associated with 93 phenotypes. Ubiquitous expression in brain (RPKM 67.0), thyroid (RPKM 49.4) and 25 other tissues.

功能概要

网格蛋白是细胞内细胞器细胞质面的主要蛋白质成分,称为包被囊泡和包被凹坑。这些专门的细胞器参与受体的细胞内运输和各种大分子的内吞作用。网格蛋白外套的基本亚基由三个重链和三个轻链组成。[RefSeq 提供,2008 年 7 月]

Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three LIGHT chains. [provided by RefSeq, Jul 2008]

CLTC 基因产物(2)

mRNA Protein Name
NM_001288653.2 NP_001275582.1 clathrin heavy chain 1 isoform 2
NM_004859.4 NP_004850.1 clathrin heavy chain 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables clathrin light chain binding IPI
IPI: 通过物理相互作用推断
4066749 GOA
enables disordered domain specific binding IPI
IPI: 通过物理相互作用推断
11756460 GOA
enables double-stranded RNA binding IDA
IDA: 通过直接分析推断
21266579 GOA
enables low-density lipoprotein particle receptor binding IPI
IPI: 通过物理相互作用推断
26005850 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12429846 GOA
enables ubiquitin-specific protease binding IPI
IPI: 通过物理相互作用推断
26756164 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in amyloid-beta clearance by transcytosis IMP
IMP: 通过突变表型推断
26005850 GOA
involved in clathrin coat assembly IMP
IMP: 通过突变表型推断
11756460 GOA
involved in clathrin-dependent endocytosis IMP
IMP: 通过突变表型推断
26005850 GOA
involved in mitotic cell cycle IMP
IMP: 通过突变表型推断
15858577 GOA
involved in negative regulation of hyaluronan biosynthetic process IDA
IDA: 通过直接分析推断
24251095 GOA
involved in negative regulation of hyaluronan biosynthetic process IMP
IMP: 通过突变表型推断
23509262 GOA
involved in negative regulation of protein localization to plasma membrane IMP
IMP: 通过突变表型推断
19581412 GOA
involved in receptor internalization IMP
IMP: 通过突变表型推断
14985334 GOA
involved in receptor-mediated endocytosis IMP
IMP: 通过突变表型推断
15858577 GOA
involved in regulation of mitotic spindle organization IMP
IMP: 通过突变表型推断
21297582 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
20065094 GOA
involved in transferrin transport IMP
IMP: 通过突变表型推断
14985334 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of clathrin coat IMP
IMP: 通过突变表型推断
11756460 GOA
part of clathrin complex IDA
IDA: 通过直接分析推断
4066749 GOA
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
19478182 GOA
located in mitotic spindle microtubule IDA
IDA: 通过直接分析推断
21297582 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
21266579 GOA
located in spindle IDA
IDA: 通过直接分析推断
15858577 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

CLTC 蛋白结构

Clathrin_propel

Clathrin_propel: Clathrin propeller repeat (19 - 56)

Clathrin_propel

Clathrin_propel: Clathrin propeller repeat (149 - 187)

Clathrin_propel

Clathrin_propel: Clathrin propeller repeat (199 - 234)

Clathrin-link

Clathrin-link: Clathrin, heavy-chain linker (331 - 354)

Clathrin_H_link

Clathrin_H_link: Clathrin-H-link (356 - 421)

Clathrin

Clathrin: Region in Clathrin and VPS (542 - 678)

Clathrin

Clathrin: Region in Clathrin and VPS (688 - 827)

Clathrin

Clathrin: Region in Clathrin and VPS (840 - 968)

Clathrin

Clathrin: Region in Clathrin and VPS (979 - 1119)

Clathrin

Clathrin: Region in Clathrin and VPS (1129 - 1267)

Clathrin

Clathrin: Region in Clathrin and VPS (1275 - 1417)

Clathrin

Clathrin: Region in Clathrin and VPS (1423 - 1565)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1675 a.a.
蛋白主名 其他名称

clathrin heavy chain 1

clathrin heavy chain on chromosome 17

CLTC 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
Intra CLTC Q00610 CLTA Homo sapiens P09496
Anti Tag CoIP
35271311
Intra CLTC Q00610 CLTA Homo sapiens P09496
Crosslink
30021884
Intra CLTC Q00610 MYB Homo sapiens P10242
Anti Bait CoIP
18548008
Intra CLTC Q00610 TNK2 Homo sapiens Q07912
Pull Down
19798056
Intra CLTC Q00610 TNK2 Homo sapiens Q07912
Anti Tag CoIP
26496610
Intra CLTC Q00610 OCRL Homo sapiens Q01968
SPR
19536138
Intra CLTC Q00610 OCRL Homo sapiens Q01968
Anti Tag CoIP
26496610
Intra CLTC Q00610 OCRL Homo sapiens Q01968
Pull Down
16902405
Intra CLTC Q00610 ARRB2 Homo sapiens P32121
FPS
37100772
Intra CLTC Q00610 ARRB2 Homo sapiens P32121
Phage Display
35044719
Intra CLTC Q00610 PAAT Homo sapiens Q9H8K7
Anti Tag CoIP
26496610
Intra CLTC Q00610 DLGAP5 Homo sapiens Q15398
X-Ray Diffraction
37219487
Intra CLTC Q00610 DLGAP5 Homo sapiens Q15398
Anti Tag CoIP
37219487
Intra CLTC Q00610 DLGAP5 Homo sapiens Q15398
FPS
37219487
Intra CLTC Q00610 DLGAP5 Homo sapiens Q15398
ITC
37219487
Cross CLTC Q00610 poln_eeev8 Eastern equine encephalitis virus Q306W8
Phage Display
37100772
Cross CLTC Q00610 poln_eeev8 Eastern equine encephalitis virus Q306W8
X-Ray Diffraction
37100772
Cross CLTC Q00610 poln_eeev1 Eastern equine encephalitis virus Q306W6
FPS
37219487
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
Intellectual Developmental Disorder, Autosomal Dominant 56

Mental Retardation, Autosomal Dominant 56

MRD56

Autosomal Dominant Mental Retardation 56

Autosomal Dominant Intellectual Developmental Disorder 56

Autosomal Dominant Intellectual Developmental Disorder-56

Autosomal Dominant Non-Syndromic Intellectual Disability
Renal Cell Carcinoma, Xp11-Associated

RCCX1

Mit Family Translocation Renal Cell Carcinoma

Renal Cell Carcinoma, Papillary, 1

Carcinoma Associated With Mitf/Tfe Translocation

Translocation Renal Cell Carcinoma

Renal Cell Carcinoma Xp11-Associated

Renal Cell Carcinoma Papillary 1

Carcinoma, Renal Cell, Xp11-Associated

Noonan Syndrome 3

NS3

Noonan Syndrome, Type 3

Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Pulmonary Plasma Cell Granuloma

Plasma Cell Granuloma, Pulmonary

Granuloma, Plasma Cell, Pulmonary

Lymphocytic Pseudotumor Of Lung

Sclerosing Hemangiocytoma Of Lung

Epithelioid Inflammatory Myofibroblastic Sarcoma
Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive

Arh

FHCL4

Autosomal Recessive Hypercholesterolemia

Arh1

Arh2

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Fhcb1

Fhcb2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Arh1, Formerly

Fhcb1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Arh2, Formerly

Fhcb2, Formerly

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Autosomal Recessive

Hypercholesterolemia, Familial, Type 4

Childhood Kidney Cell Carcinoma

Pediatric Renal Cell Carcinoma

Childhood Renal Cell Carcinoma

Alveolar Soft Part Sarcoma

ASPS

Alveolar Soft-Part Sarcoma

Sarcoma, Alveolar Soft Part

Alveolar Soft Tissue Sarcoma

Sarcoma Alveolar Soft Part

Adult Alveolar Soft-Part Sarcoma

Childhood Alveolar Soft-Part Sarcoma

Mesenchymal Cell Neoplasm

Benign Miscellaneous Mesenchymal Tumor

Mesenchymal Tumor

Mesenchymal Tumors

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Canis familiaris CLTC VGNC VGNC:39367
Mus musculus CLTC MGD MGI:2388633
Bos taurus CLTC VGNC VGNC:27471
Rattus norvegicus CLTC RGD RGD:2364
Felis catus CLTC VGNC VGNC:60984
Macaca mulatta CLTC VGNC VGNC:97754