GIPC1 - GIPC PDZ domain containing family member 1 Gene

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9770488	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	15459234	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	22888021	GOA
involved in positive regulation of melanin biosynthetic process	IMP IMP: Inferred from mutant phenotype	21291857	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell cortex	IDA IDA: Inferred from direct assay	12857860	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	12857860	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

GIPC1 Protein Structure

PDZ

0
100
200
300
333 a.a.

Protein Preferred Names

Protein Names

PDZ domain-containing protein GIPC1

GAIP C-terminus-interacting protein

GIPC1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GIPC1	O14908	SH3BP4	Homo sapiens	Q9P0V3	BioID	29467281
Intra	GIPC1	O14908	SH3BP4	Homo sapiens	Q9P0V3	Anti Tag CoIP	33961781
Intra	GIPC1	O14908	SH3BP4	Homo sapiens	Q9P0V3	Y2H	29467281
Intra	GIPC1	O14908	SH3BP4	Homo sapiens	Q9P0V3	Anti Bait CoIP	17353931
Intra	GIPC1	O14908	MYO6	Homo sapiens	Q9UM54	Anti Bait CoIP	17353931
Intra	GIPC1	O14908	PLEKHA2	Homo sapiens	Q9HB19	Validated Y2H	32296183
Intra	GIPC1	O14908	TYRP1	Homo sapiens	P17643	Y2H Fragment Pooling	11441007
Intra	GIPC1	O14908	TYRP1	Homo sapiens	P17643	Anti Bait CoIP	11441007
Intra	GIPC1	O14908	ARHGEF12	Homo sapiens	Q9NZN5	Anti Tag CoIP	33961781
Intra	GIPC1	O14908	ARHGEF12	Homo sapiens	Q9NZN5	BioID	29467281

Cross: Cross-species interaction Intra: Intraspecies interaction

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	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.