CCDC88A coiled-coil domain containing 88A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC88Aprovided by HGNC
Official Full Name: coiled-coil domain containing 88Aprovided by HGNC
Primary source: HGNC:HGNC:25523
See related: Ensembl:ENSG00000115355 MIM:609736; AllianceGenome:HGNC:25523
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: APE; GIV; GRDN; PEHO; HkRP1; PEHOL; GIRDIN; KIAA1212
Summary: This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression: Broad expression in testis (RPKM 20.8), brain (RPKM 15.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p16.1

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (55287842..55419856, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (55285045..55417059, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (55514978..55646992, complement)

Chromosome 2 - NC_000002.12 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?

Integrins regulate hERG1 dynamics by girdin-dependent Galphai3: signaling and modeling in cancer cells.
Title: Integrins regulate hERG1 dynamics by girdin-dependent Gαi3: signaling and modeling in cancer cells.
Upregulation of girdin delays endothelial cell apoptosis via promoting engulfment of platelets.
Title: Upregulation of girdin delays endothelial cell apoptosis via promoting engulfment of platelets.
An unusual signal transducer GIV/Girdin engages in the roles of adipocyte-derived hormone leptin in liver fibrosis.
Title: An unusual signal transducer GIV/Girdin engages in the roles of adipocyte-derived hormone leptin in liver fibrosis.
hsa-miR-199b-3p suppresses osteosarcoma progression by targeting CCDC88A, inhibiting epithelial-to-mesenchymal transition, and Wnt/beta-catenin signaling pathway.
Title: hsa-miR-199b-3p suppresses osteosarcoma progression by targeting CCDC88A, inhibiting epithelial-to-mesenchymal transition, and Wnt/beta-catenin signaling pathway.
Girdin regulates both migration and angiogenesis in pancreatic cancer cell lines.
Title: Girdin regulates both migration and angiogenesis in pancreatic cancer cell lines.
The association between the CCDC88A gene polymorphism at rs1437396 and alcohol use disorder, with or without major depression disorder.
Title: The association between the CCDC88A gene polymorphism at rs1437396 and alcohol use disorder, with or without major depression disorder.
Girdin acts as an oncogene in gastric cancer by regulating AKT/GSK3beta/beta-catenin signaling.
Title: Girdin acts as an oncogene in gastric cancer by regulating AKT/GSK3β/β-catenin signaling.
Knockdown of Girdin Induced Apoptosis of Glioblastoma Cells via the Mitochondrion Signaling Pathway.
Title: Knockdown of Girdin Induced Apoptosis of Glioblastoma Cells via the Mitochondrion Signaling Pathway.
CCDC88A Post-Transcriptionally Regulates VEGF via miR-101 and Subsequently Regulates Hepatocellular Carcinoma.
Title: CCDC88A Post-Transcriptionally Regulates VEGF via miR-101 and Subsequently Regulates Hepatocellular Carcinoma.
CCDC88A/GIV promotes HBV replication and progeny secretion via enhancing endosomal trafficking and blocking autophagic degradation.
Title: CCDC88A/GIV promotes HBV replication and progeny secretion via enhancing endosomal trafficking and blocking autophagic degradation.

Submit: New GeneRIF Correction See all GeneRIFs (91)

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
PEHO-like syndrome MedGen: C1850056 OMIM: 617507 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D10S275 (e-PCR)
- UniSTS:147992

RH12571 (e-PCR)
- UniSTS:79385

G20678 (e-PCR)
- UniSTS:77094

A006B27 (e-PCR)
- UniSTS:77095

RH93856 (e-PCR)
- UniSTS:88104

RH79821 (e-PCR)
- UniSTS:84525

RH69376 (e-PCR)
- UniSTS:3375

WI-22280 (e-PCR)
- UniSTS:82224

D8S2279 (e-PCR)
- UniSTS:473907

D8S2282 (e-PCR)
- UniSTS:473910

Ccdc88a (e-PCR), detects polymorphism
- UniSTS:506689

RH92651 (e-PCR)
- UniSTS:92499

L18426 (e-PCR)
- UniSTS:34648

D2S137 (e-PCR), detects polymorphism
- UniSTS:16989

D2S1285 (e-PCR)
- UniSTS:80228

RH79802 (e-PCR)
- UniSTS:88688

RH122259 (e-PCR)
- UniSTS:134807

NoName (e-PCR)
- UniSTS:15027

L17971 (e-PCR)
- UniSTS:43966

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	IPI Inferred from Physical Interaction more info	PubMed
enables G-protein gamma-subunit binding	IEA Inferred from Electronic Annotation more info
enables GDP-dissociation inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables SH2 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables dynein light intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables epidermal growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables insulin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase B binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables vascular endothelial growth factor receptor 2 binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in TOR signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in activation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton-dependent intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of protein location in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane organization	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in small GTPase-mediated signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in COPI-coated Golgi to ER transport vesicle	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: girdin

Names: AKT-phosphorylation enhancer; Hook-related protein 1; g alpha-interacting vesicle-associated protein; girders of actin filaments

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.

Genomic

NG_031944.1 RefSeqGene

Range

5066..137080

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135597.2 → NP_001129069.1 girdin isoform 1

See identical proteins and their annotated locations for NP_001129069.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AB201172, AC012358, BC014905, BC045829, D64159, DA488073

Consensus CDS

CCDS46288.1

UniProtKB/TrEMBL

A0A2U3TZV9

Related

ENSP00000338728.6, ENST00000336838.10

Conserved Domains (7) summary

TIGR04523
Location:493 → 1204

Mplasa_alph_rch; helix-rich Mycoplasma protein

pfam05622
Location:18 → 584

HOOK; HOOK protein

pfam06156
Location:1060 → 1106

DUF972; Protein of unknown function (DUF972)

pfam09455
Location:488 → 636

Cas_DxTHG; CRISPR-associated (Cas) DxTHG family

pfam10211
Location:628 → 702

Ax_dynein_light; Axonemal dynein light chain

cl09111
Location:766 → 859

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

cl19252
Location:825 → 943

MreC; rod shape-determining protein MreC
NM_001254943.2 → NP_001241872.1 girdin isoform 3

See identical proteins and their annotated locations for NP_001241872.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AC012358, BC014905, BC045829, BC144320, DA488073

Consensus CDS

CCDS58710.1

UniProtKB/TrEMBL

A0A2U3TZV9

Related

ENSP00000493703.1, ENST00000646796.1

Conserved Domains (7) summary

TIGR04523
Location:493 → 1204

Mplasa_alph_rch; helix-rich Mycoplasma protein

pfam05622
Location:18 → 584

HOOK; HOOK protein

pfam06156
Location:1060 → 1106

DUF972; Protein of unknown function (DUF972)

pfam09455
Location:488 → 636

Cas_DxTHG; CRISPR-associated (Cas) DxTHG family

pfam10211
Location:628 → 702

Ax_dynein_light; Axonemal dynein light chain

cl09111
Location:766 → 859

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

cl19252
Location:825 → 943

MreC; rod shape-determining protein MreC
NM_001365480.1 → NP_001352409.1 girdin isoform 4

Status: REVIEWED

Source sequence(s)

AC012358, AC019198, AC092176

Consensus CDS

CCDS92755.1

UniProtKB/Swiss-Prot

A1IGE7, B7ZM78, C9JG83, Q3V6T2, Q53SF1, Q581G3, Q5HYD0, Q7Z339, Q7Z3C5

UniProtKB/TrEMBL

A0A2U3TZV9

Related

ENSP00000410608.1, ENST00000436346.7

Conserved Domains (1) summary

cl25732
Location:491 → 1331

SMC_N; RecF/RecN/SMC N terminal domain
NM_018084.5 → NP_060554.3 girdin isoform 2

See identical proteins and their annotated locations for NP_060554.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC012358, BC014905, BC045829, BC132736, DA488073

Consensus CDS

CCDS33203.1

UniProtKB/TrEMBL

A0A2U3TZV9

Related

ENSP00000263630.8, ENST00000263630.13

Conserved Domains (7) summary

TIGR04523
Location:493 → 1205

Mplasa_alph_rch; helix-rich Mycoplasma protein

pfam05622
Location:18 → 584

HOOK; HOOK protein

pfam06156
Location:1061 → 1107

DUF972; Protein of unknown function (DUF972)

pfam09455
Location:488 → 636

Cas_DxTHG; CRISPR-associated (Cas) DxTHG family

pfam10211
Location:628 → 702

Ax_dynein_light; Axonemal dynein light chain

cl09111
Location:766 → 859

Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

cl19252
Location:825 → 943

MreC; rod shape-determining protein MreC