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    CYTH4 cytohesin 4 [ Homo sapiens (human) ]

    Gene ID: 27128, updated on 27-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
    mouse all
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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
    • 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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    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

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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