CYTH4 cytohesin 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYTH4provided by HGNC
Official Full Name: cytohesin 4provided by HGNC
Primary source: HGNC:HGNC:9505
See related: Ensembl:ENSG00000100055 MIM:606514; AllianceGenome:HGNC:9505
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: CYT4; PSCD4; DJ63G5.1; cytohesin-4
Summary: This gene encodes a member of the PSCD family of proteins, which have 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 function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Expression: Broad expression in appendix (RPKM 28.0), spleen (RPKM 22.5) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37282508..37315341)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (37743033..37775859)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (37678549..37711382)

Chromosome 22 - NC_000022.11 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 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?

Novel alleles were detected at the long extreme of the GTTT-repeat, at 10- and 11-repeats, in the Schizophrenia cases and controls.Three genotypes consisting of the 11-repeat allele (i.e., 11/11, 10/11, and 7/11) were detected only in the Schizophrenia patients. The frequency of the 11-repeat allele was estimated at 0.02 and 0.006 in the Schizophrenia patients and controls, respectively
Title: Support for "Disease-Only" Genotypes and Excess of Homozygosity at the CYTH4 Primate-Specific GTTT-Repeat in Schizophrenia.
This is the first evidence of a link between a primate-specific short tandem repeat of promoter of CYTH4 and a major psychiatric disorder in human
Title: A primate-specific functional GTTT-repeat in the core promoter of CYTH4 is linked to bipolar disorder in human.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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

EBI GWAS Catalog

Description
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. 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

AL021672 (e-PCR)
- UniSTS:29713

RH11303 (e-PCR)
- UniSTS:85279

HSCZSD102 (e-PCR)
- UniSTS:63571

D11S3114 (e-PCR)
- UniSTS:152207

RH15766 (e-PCR)
- UniSTS:83648

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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 centriolar satellite	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytohesin-4

Names: PH, SEC7 and coiled-coil domain-containing protein 4; pleckstrin homology, Sec7 and coiled/coil domains 4

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_001318024.2 → NP_001304953.1 cytohesin-4 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate acceptor splice site in the 5' region, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AF125349, AK304453, CA394090, Z94160

UniProtKB/TrEMBL

B2RCD2, B4E2V8

Conserved Domains (3) summary

cd01252
Location:201 → 319

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

pfam00169
Location:205 → 317

PH; PH domain

pfam01369
Location:4 → 186

Sec7; Sec7 domain
NM_013385.5 → NP_037517.1 cytohesin-4 isoform 1

See identical proteins and their annotated locations for NP_037517.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).

Source sequence(s)

AF125349, CA394090, Z94160

Consensus CDS

CCDS13946.1

UniProtKB/Swiss-Prot

Q5R3F9, Q9UGT6, Q9UIA0

UniProtKB/TrEMBL

B2RCD2

Related

ENSP00000248901.6, ENST00000248901.11

Conserved Domains (3) summary

cd01252
Location:258 → 376

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

pfam00169
Location:262 → 374

PH; PH domain

pfam01369
Location:61 → 243

Sec7; Sec7 domain