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GIPC1 - GIPC PDZ domain containing family member 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10755

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	Verweise	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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05435	GIPC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	GIPC1	NCBI