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CYTH4 cytohesin 4 [ Homo sapiens (human) ]

Gene ID: 27128, updated on 4-Jul-2021

Summary

Official Symbol
CYTH4provided by HGNC
Official Full Name
cytohesin 4provided by HGNC
Primary source
HGNC:HGNC:9505
See related
Ensembl:ENSG00000100055 MIM:606514
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
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Genomic context

See CYTH4 in Genome Data Viewer
Location:
22q13.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37282508..37315341)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37678549..37711382)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Rac family small GTPase 2 Neighboring gene uncharacterized LOC107985576 Neighboring gene uncharacterized LOC105373024 Neighboring gene Sharpr-MPRA regulatory region 14238 Neighboring gene uncharacterized LOC100506271 Neighboring gene extracellular leucine rich repeat and fibronectin type III domain containing 2 Neighboring gene MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

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

Phenotypes

Associated conditions

Description Tests
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
 
involved_in regulation of catalytic activity 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

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)

  1. NM_001318024.2NP_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/Swiss-Prot
    Q9UIA0
    UniProtKB/TrEMBL
    B4E2V8
    Conserved Domains (3) summary
    cd01252
    Location:201319
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam00169
    Location:205317
    PH; PH domain
    pfam01369
    Location:4186
    Sec7; Sec7 domain
  2. NM_013385.5NP_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
    Q9UIA0
    Related
    ENSP00000248901.6, ENST00000248901.11
    Conserved Domains (3) summary
    cd01252
    Location:258376
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam00169
    Location:262374
    PH; PH domain
    pfam01369
    Location:61243
    Sec7; Sec7 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    37282508..37315341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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