1. Gene
  2. GIPC1 - GIPC PDZ domain containing family member 1 Gene

GIPC1 - GIPC PDZ domain containing family member 1 Gene

中文名称:含 GIPC PDZ 域的家族成员 1

种属: Homo sapiens

同用名: NIP; GIPC; IIP-1; OPDM2; TIP-2; SEMCAP; C19orf3; Hs.6454; GLUT1CBP; RGS19IP1; SYNECTIN; SYNECTIIN

基因 ID: 10755 | 基因类型: protein coding

关于 GIPC1

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:14,477,762-14,496,127 (from NCBI)

This gene has 13 transcripts (splice variants), 200 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in colon (RPKM 53.4), esophagus (RPKM 31.8) and 23 other tissues.

功能概要

GIPC1 是一种调节细胞表面受体表达和运输的支架蛋白 (Lee 等人,2008 [PubMed 18775991]) 。[OMIM 提供,2009 年 4 月]

GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]

GIPC1 基因产物(5)

mRNA Protein Name
NM_005716.4 NP_005707.1 PDZ domain-containing protein GIPC1 isoform 1
NM_202468.3 NP_974197.1 PDZ domain-containing protein GIPC1 isoform 1
NM_202469.3 NP_974198.1 PDZ domain-containing protein GIPC1 isoform 2
NM_202470.3 NP_974199.1 PDZ domain-containing protein GIPC1 isoform 1
NM_202494.3 NP_974223.1 PDZ domain-containing protein GIPC1 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
9770488 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
15459234 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cytokinesis IMP
IMP: 通过突变表型推断
22888021 GOA
involved in positive regulation of melanin biosynthetic process IMP
IMP: 通过突变表型推断
21291857 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell cortex IDA
IDA: 通过直接分析推断
12857860 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
12857860 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

GIPC1 蛋白结构

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (134 - 209)

  • 0
  • 100
  • 200
  • 300
  • 333 a.a.
蛋白主名 其他名称

PDZ domain-containing protein GIPC1

GAIP C-terminus-interacting protein

GIPC1 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
种属内
GIPC1 O14908 SH3BP4 Homo sapiens Q9P0V3 29467281
种属内
GIPC1 O14908 SH3BP4 Homo sapiens Q9P0V3 33961781
种属内
GIPC1 O14908 SH3BP4 Homo sapiens Q9P0V3
Y2H
29467281
种属内
GIPC1 O14908 SH3BP4 Homo sapiens Q9P0V3 17353931
种属内
GIPC1 O14908 MYO6 Homo sapiens Q9UM54 17353931
种属内
GIPC1 O14908 PLEKHA2 Homo sapiens Q9HB19 32296183
种属内
GIPC1 O14908 TYRP1 Homo sapiens P17643 11441007
种属内
GIPC1 O14908 TYRP1 Homo sapiens P17643 11441007
种属内
GIPC1 O14908 ARHGEF12 Homo sapiens Q9NZN5 33961781
种属内
GIPC1 O14908 ARHGEF12 Homo sapiens Q9NZN5 29467281
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
Oculopharyngodistal Myopathy 2

OPDM2

Myopathy, Oculopharyngodistal, Type 2

Oculopharyngodistal Myopathy 1

Oculopharyngodistal Myopathy

Opdm

OPDM1

Faciooculolaryngopharyngeal Myopathy With Distal And Respiratory Involvement

Folp-Dr

Oculopharyngeal Distal Myopathy

Myopathy, Oculopharyngodistal

Myopathy, Oculopharyngodistal, Type 1

Deafness, Autosomal Recessive 15

DFNB15

Dfnb72

Dfnb95

Deafness, Autosomal Recessive 72

Autosomal Recessive Nonsyndromic Deafness 15

Deafness, Autosomal Recessive 95

Autosomal Recessive Deafness 15

Autosomal Recessive Deafness 72

Autosomal Recessive Deafness 95

Deafness, Autosomal Recessive, 15

Deafness Autosomal Recessive 72

Deafness Autosomal Recessive 95

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15

Deafness, Autosomal Recessive, Type 15

Deafness, Autosomal Recessive 37

DFNB37

Autosomal Recessive Nonsyndromic Deafness 37

Autosomal Recessive Deafness 37

Deafness, Autosomal Recessive, 37

Congenital Neurosensory Deafness Autosomal Recessive 37

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37

Deafness, Autosomal Recessive, Type 37

Ovary Serous Adenocarcinoma

Malignant Ovarian Serous Tumor

Serous Carcinoma Of Ovary

Deafness, Autosomal Dominant 22

DFNA22

Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy

Autosomal Dominant Nonsyndromic Deafness 22

Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

Autosomal Dominant Deafness 22

Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome

Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome

Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome

DFNHCM

Deafness, Autosomal Dominant, 22

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22

Deafness, Autosomal Dominant, Type 22

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Myopathy

Muscular Diseases

Myopathies

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

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 GIPC1 RGD RGD:68338
Bos taurus GIPC1 VGNC VGNC:29365
Macaca mulatta GIPC1 VGNC VGNC:72932
Mus musculus GIPC1 MGD MGI:1926252
Canis familiaris GIPC1 VGNC VGNC:41225
Felis catus GIPC1 VGNC VGNC:62557