CYTH3 cytohesin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYTH3provided by HGNC
Official Full Name: cytohesin 3provided by HGNC
Primary source: HGNC:HGNC:9504
See related: Ensembl:ENSG00000008256 MIM:605081; AllianceGenome:HGNC:9504
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: GRP1; ARNO3; PSCD3; cytohesin-3
Summary: This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in placenta (RPKM 22.7), fat (RPKM 21.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (6161779..6272624, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (6281155..6392015, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (6201410..6312255, complement)

Chromosome 7 - NC_000007.14 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cytohesin-3 was upregulated in hepatocellular carcinoma tissues, correlating with overall survival/relapse-free survival and tumor size/vascular invasion.
Title: Cytohesin-3 is upregulated in hepatocellular carcinoma and contributes to tumor growth and vascular invasion.
The PH domains of cytohesin 2/ARNO and cytohesin 3/GRP1 are responsible for the differential effects of these proteins on cell adhesion to fibronectin.
Title: Phosphoinositide specificity determines which cytohesins regulate β1 integrin recycling.
incorporation of the E345K charge reversal mutation into the GRP1 PH domain enhances PI(4,5)P(2) affinity 8-fold and yields constitutive plasma membrane targeting in cells
Title: The GRP1 PH domain, like the AKT1 PH domain, possesses a sentry glutamate residue essential for specific targeting to plasma membrane PI(3,4,5)P(3).
GRP1 is a new corepressor for thyroid hormone receptors, which modulates both positive and negative regulation by T3 by decreasing TR-complex formation on thyroid response elements
Title: General receptor for phosphoinositides 1, a novel repressor of thyroid hormone receptor action that prevents deoxyribonucleic acid binding.

Submit: New GeneRIF Correction

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

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

SHGC-171945 (e-PCR)
- UniSTS:184586

SHGC-104885 (e-PCR)
- UniSTS:169022

D7S3123 (e-PCR)
- UniSTS:186690

G32542 (e-PCR)
- UniSTS:117126

Cda0ia03 (e-PCR)
- UniSTS:75913

RH103393 (e-PCR)
- UniSTS:97719

GDB:1317150 (e-PCR)
- UniSTS:39876

A009H19 (e-PCR)
- UniSTS:3534

STS-W02789 (e-PCR)
- UniSTS:71165

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi vesicle transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of epithelial cell polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of ARF protein signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in adherens junction	ISS Inferred from Sequence or Structural Similarity more info
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cytohesin-3

Names: ARF nucleotide-binding site opener 3; PH, SEC7 and coiled-coil domain-containing protein 3; general receptor of phosphoinositides 1; pleckstrin homology, Sec7 and coiled-coil domains 3

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_029882.1 RefSeqGene

Range

4988..115833

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001367580.1 → NP_001354509.1 cytohesin-3 isoform b

Status: REVIEWED

Source sequence(s)

AC004895, AC009412

UniProtKB/TrEMBL

B7Z2V9
NM_001367581.1 → NP_001354510.1 cytohesin-3 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3), as well as variant 4, encodes isoform c.

Source sequence(s)

AC004895, AC009412

UniProtKB/TrEMBL

B4DLA7

Conserved Domains (2) summary

cd01252
Location:96 → 215

PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain

pfam01369
Location:1 → 81

Sec7; Sec7 domain
NM_001367582.1 → NP_001354511.1 cytohesin-3 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.

Source sequence(s)

AC004895

UniProtKB/TrEMBL

B4DLA7

Conserved Domains (2) summary

cd01252
Location:96 → 215

PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain

pfam01369
Location:1 → 81

Sec7; Sec7 domain
NM_004227.4 → NP_004218.1 cytohesin-3 isoform a

See identical proteins and their annotated locations for NP_004218.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC009412, AJ223957, BC028717, BG620295, CB988199

Consensus CDS

CCDS5346.1

UniProtKB/TrEMBL

B2R9C3

Related

ENSP00000297044.7, ENST00000350796.8

Conserved Domains (2) summary

cd01252
Location:263 → 382

PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain

pfam01369
Location:66 → 248

Sec7; Sec7 domain