Format

Send to:

Choose Destination

GIPC1 GIPC PDZ domain containing family member 1 [ Homo sapiens (human) ]

Gene ID: 10755, updated on 15-Jun-2019

Summary

Official Symbol
GIPC1provided by HGNC
Official Full Name
GIPC PDZ domain containing family member 1provided by HGNC
Primary source
HGNC:HGNC:1226
See related
Ensembl:ENSG00000123159 MIM:605072
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NIP; GIPC; IIP-1; TIP-2; SEMCAP; C19orf3; Hs.6454; GLUT1CBP; RGS19IP1; SYNECTIN; SYNECTIIN
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]
Expression
Broad expression in colon (RPKM 53.4), esophagus (RPKM 31.8) and 23 other tissues See more
Orthologs

Genomic context

See GIPC1 in Genome Data Viewer
Location:
19p13.12
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (14477759..14496149, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14588571..14606961, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein kinase N1 Neighboring gene prostaglandin E receptor 1 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 15 Neighboring gene DnaJ heat shock protein family (Hsp40) member B1 Neighboring gene microRNA 639 Neighboring gene trans-2,3-enoyl-CoA reductase Neighboring gene uncharacterized LOC112268253

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3774, MGC15889

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
cadherin binding HDA PubMed 
myosin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to interleukin-7 IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
endothelial cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamate secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of melanin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transforming growth factor beta receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
protein targeting ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein stability ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
brush border IEA
Inferred from Electronic Annotation
more info
 
cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic shaft ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
endocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
PDZ domain-containing protein GIPC1
Names
GAIP C-terminus-interacting protein
GLUT1 C-terminal binding protein
IGF-1 receptor interacting protein 1
RGS-GAIP-interacting protein
RGS19-interacting protein 1
regulator of G-protein signalling 19 interacting protein 1
tax interaction protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005716.4NP_005707.1  PDZ domain-containing protein GIPC1 isoform 1

    See identical proteins and their annotated locations for NP_005707.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 3 and 5 encode the same isoform.
    Source sequence(s)
    AC012318, BC000410
    Consensus CDS
    CCDS12310.1
    UniProtKB/Swiss-Prot
    O14908
    UniProtKB/TrEMBL
    A0A024R7I0
    Related
    ENSP00000376753.3, ENST00000393033.9
    Conserved Domains (1) summary
    cd00992
    Location:132211
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  2. NM_202468.3NP_974197.1  PDZ domain-containing protein GIPC1 isoform 1

    See identical proteins and their annotated locations for NP_974197.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' UTR, compared to variant 1. Variants 1, 3 and 5 encode the same isoform (1).
    Source sequence(s)
    AC012318, AK290252, BC000410
    Consensus CDS
    CCDS12310.1
    UniProtKB/Swiss-Prot
    O14908
    UniProtKB/TrEMBL
    A0A024R7I0, A8K2I7
    Related
    ENSP00000466747.1, ENST00000586027.5
    Conserved Domains (1) summary
    cd00992
    Location:132211
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  3. NM_202469.3NP_974198.1  PDZ domain-containing protein GIPC1 isoform 2

    See identical proteins and their annotated locations for NP_974198.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 4 and 6 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC012318, AK290948, BC000410
    Consensus CDS
    CCDS12311.1
    UniProtKB/Swiss-Prot
    O14908
    UniProtKB/TrEMBL
    A0A024R7I1
    Related
    ENSP00000467077.1, ENST00000591349.5
    Conserved Domains (1) summary
    cd00992
    Location:35113
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  4. NM_202470.3NP_974199.1  PDZ domain-containing protein GIPC1 isoform 1

    See identical proteins and their annotated locations for NP_974199.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two consecutive exons in the 5' UTR, compared to variant 1. Variants 1, 3 and 5 encode the same isoform (1).
    Source sequence(s)
    AC012318, AF089816, BC000410
    Consensus CDS
    CCDS12310.1
    UniProtKB/Swiss-Prot
    O14908
    UniProtKB/TrEMBL
    A0A024R7I0
    Related
    ENSP00000340698.1, ENST00000345425.6
    Conserved Domains (1) summary
    cd00992
    Location:132211
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  5. NM_202494.2NP_974223.1  PDZ domain-containing protein GIPC1 isoform 2

    See identical proteins and their annotated locations for NP_974223.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 4 and 6 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC008569, AC012318, AI589363, BC000410
    Consensus CDS
    CCDS12311.1
    UniProtKB/Swiss-Prot
    O14908
    UniProtKB/TrEMBL
    A0A024R7I1
    Related
    ENSP00000376748.1, ENST00000393028.5
    Conserved Domains (1) summary
    cd00992
    Location:35113
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    14477759..14496149 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026148.2XP_016881637.1  PDZ domain-containing protein GIPC1 isoform X2

    UniProtKB/Swiss-Prot
    O14908
    UniProtKB/TrEMBL
    A0A024R7I1
    Conserved Domains (1) summary
    cd00992
    Location:35113
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  2. XM_017026147.1XP_016881636.1  PDZ domain-containing protein GIPC1 isoform X1

    UniProtKB/Swiss-Prot
    O14908
    UniProtKB/TrEMBL
    A0A024R7I0
    Conserved Domains (1) summary
    cd00992
    Location:132211
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_202467.1: Suppressed sequence

    Description
    NM_202467.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Support Center