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CYTH4 cytohesin 4 [ Homo sapiens (human) ]

Gene ID: 27128, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See CYTH4 in Genome Data Viewer
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_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37629791-37630292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37630293-37630792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37633073-37633751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37633752-37634430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37638099-37638662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37638663-37639226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37641225-37641809 Neighboring gene Rac family small GTPase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37649347-37649848 Neighboring gene uncharacterized LOC107985576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37656641-37657180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13684 Neighboring gene Sharpr-MPRA regulatory region 14238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37705193-37705774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18970 Neighboring gene uncharacterized LOC105373024 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37707125-37708324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37713975-37714832 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:37723358-37724557 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37725005-37725650 Neighboring gene Sharpr-MPRA regulatory region 3535 Neighboring gene uncharacterized LOC100506271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37750914-37751414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37751415-37751915 Neighboring gene extracellular leucine rich repeat and fibronectin type III domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37764078-37765044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37774300-37774868 Neighboring gene uncharacterized LOC124905114

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A primate-specific functional GTTT-repeat in the core promoter of CYTH4 is linked to bipolar disorder in human. Rezazadeh M, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2015 Jan 2. PMID 25240857
  2. Support for "Disease-Only" Genotypes and Excess of Homozygosity at the CYTH4 Primate-Specific GTTT-Repeat in Schizophrenia. Khademi E, et al. Genet Test Mol Biomarkers, 2017 Aug. PMID 28723299
  3. An expression-independent catalog of genes from human chromosome 22. Trofatter JA, et al. Genome Res, 1995 Oct. PMID 8593609
  4. Similarities in function and gene structure of cytohesin-4 and cytohesin-1, guanine nucleotide-exchange proteins for ADP-ribosylation factors. Ogasawara M, et al. J Biol Chem, 2000 Feb 4. PMID 10652308
  5. Interaction protein for cytohesin exchange factors 1 (IPCEF1) binds cytohesin 2 and modifies its activity. Venkateswarlu K. J Biol Chem, 2003 Oct 31. PMID 12920129

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
Submit: New GeneRIF Correction

Phenotypes

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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

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

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
  
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)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    37743033..37775859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UIA0.1 GenPept UniProtKB/Swiss-Prot:Q9UIA0

Gene LinkOut

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