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

GIPC1 - GIPC PDZ domain containing family member 1 Gene

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

Also known as NIP; GIPC; IIP-1; OPDM2; TIP-2; SEMCAP; C19orf3; Hs.6454; GLUT1CBP; RGS19IP1; SYNECTIN; SYNECTIIN

Gene ID: 10755 | Gene type: protein coding

About 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.

Summary

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 Products(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

GIPC1 Protein Structure

PDZ

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

  • 0
  • 100
  • 200
  • 300
  • 333 a.a.
Protein Preferred Names Protein Names

PDZ domain-containing protein GIPC1

GAIP C-terminus-interacting protein

Related Diseases

Diseases Alias
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
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-RS05435 GIPC1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source 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