U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 10755, updated on 1-Mar-2024

    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; AllianceGenome:HGNC:1226
    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; OPDM2; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GIPC1 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14477762..14496127, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14604395..14622744, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14588574..14606939, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14544012-14544585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14544586-14545158 Neighboring gene Sharpr-MPRA regulatory region 2073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14555029-14555529 Neighboring gene protein kinase N1 Neighboring gene Sharpr-MPRA regulatory region 3261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14582511-14583159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14586151-14586819 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:14587236-14587718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14589159-14589674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14590760-14591354 Neighboring gene prostaglandin E receptor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14606254-14607180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10255 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14608461-14608960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10257 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:14630503-14631232 Neighboring gene DnaJ heat shock protein family (Hsp40) member B1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14640150-14640734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14172 Neighboring gene microRNA 639 Neighboring gene trans-2,3-enoyl-CoA reductase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14662493-14662992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14666446-14667327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14667328-14668208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14673655-14674462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14676079-14676885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14173 Neighboring gene NADH:ubiquinone oxidoreductase subunit B7

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC3774, MGC15889

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      A8K4I3, A8MZG3, O14908, Q9BTC9
      UniProtKB/TrEMBL
      A8K2I7
      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
      A8K4I3, A8MZG3, O14908, Q9BTC9
      UniProtKB/TrEMBL
      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
      Related
      ENSP00000467077.1, ENST00000591349.5
      Conserved Domains (2) 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) ...
      cd21180
      Location:164228
      GH2_GIPC; GIPC-homology 2 (GH2) domain found in the GIPC family
    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
      A8K4I3, A8MZG3, O14908, Q9BTC9
      UniProtKB/TrEMBL
      A8K2I7
      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_202494.3NP_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, BC000410
      Consensus CDS
      CCDS12311.1
      Related
      ENSP00000376748.1, ENST00000393028.5
      Conserved Domains (2) 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) ...
      cd21180
      Location:164228
      GH2_GIPC; GIPC-homology 2 (GH2) domain found in the GIPC family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      14477762..14496127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026148.3XP_016881637.1  PDZ domain-containing protein GIPC1 isoform X2

      Conserved Domains (2) 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) ...
      cd21180
      Location:164228
      GH2_GIPC; GIPC-homology 2 (GH2) domain found in the GIPC family
    2. XM_017026147.2XP_016881636.1  PDZ domain-containing protein GIPC1 isoform X1

      UniProtKB/Swiss-Prot
      A8K4I3, A8MZG3, O14908, Q9BTC9
      UniProtKB/TrEMBL
      A8K2I7
      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) ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14604395..14622744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319543.1XP_054175518.1  PDZ domain-containing protein GIPC1 isoform X2

    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.