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

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report.
Title: Intrafamilial phenotypic heterogeneity in GIPC1-related oculopharyngodistal myopathy type 2: a case report.
GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders.
Title: GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders.
GIPC-Regulated IGFBP-3 Promotes HSC Migration In Vitro and Portal Hypertension In Vivo Through a beta1-Integrin Pathway.
Title: GIPC-Regulated IGFBP-3 Promotes HSC Migration In Vitro and Portal Hypertension In Vivo Through a β1-Integrin Pathway.
Silencing of Neuropilins and GIPC1 in pancreatic ductal adenocarcinoma exerts multiple cellular and molecular antitumor effects.
Title: Silencing of Neuropilins and GIPC1 in pancreatic ductal adenocarcinoma exerts multiple cellular and molecular antitumor effects.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Title: Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
VEGF-A interacts with NRP-1 and GIPC1 to regulate alpha6/beta4-integrin, FAK, Src, PI3K/PDK1, LATS1 signaling to increase YAP1/Np63alpha accumulation.
Title: NRP-1 interacts with GIPC1 and α6/β4-integrins to increase YAP1/∆Np63α-dependent epidermal cancer stem cell survival.
Upregulated expression of GIPC1 is associated with glioma.
Title: Neuropilin-1 (NRP-1)/GIPC1 pathway mediates glioma progression.
Drd3 palmitoylation acts as a molecular switch for Drd3-biased signaling via a GIPC1-dependent route, which is likely to affect the mode of action of antipsychotic drugs.
Title: A GIPC1-Palmitate Switch Modulates Dopamine Drd3 Receptor Trafficking and Signaling.
The composite biomarker, CAPG and GIPC1 in primary breast tumors, predicted disease outcomes and benefit from zoledronate and may facilitate patient selection for adjuvant bisphosphonate treatment.
Title: CAPG and GIPC1: Breast Cancer Biomarkers for Bone Metastasis Development and Treatment.
GIPC status determines the loading of cellular cargo in the exosome in pancreatic cancer cells.
Title: GAIP interacting protein C-terminus regulates autophagy and exosome biogenesis of pancreatic cancer through metabolic pathways.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oculopharyngodistal myopathy 2 MedGen: C5394548 OMIM: 618940 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G29335 (e-PCR)
- UniSTS:12621

STS-W73036 (e-PCR)
- UniSTS:25806

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 more info	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 more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	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

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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)

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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)

NM_005716.4 → NP_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:132 → 211

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) ...
NM_202468.3 → NP_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:132 → 211

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) ...
NM_202469.3 → NP_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:35 → 113

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:164 → 228

GH2_GIPC; GIPC-homology 2 (GH2) domain found in the GIPC family
NM_202470.3 → NP_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:132 → 211

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) ...
NM_202494.3 → NP_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:35 → 113

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:164 → 228

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

14477762..14496127 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (2) summary

cd00992
Location:35 → 113

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:164 → 228

GH2_GIPC; GIPC-homology 2 (GH2) domain found in the GIPC family
XM_017026147.2 → XP_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:132 → 211

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

NC_060943.1 Alternate T2T-CHM13v2.0

Range

14604395..14622744 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_202467.1: Suppressed sequence

Description

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