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Aliases for CYTH1 Gene

Aliases for CYTH1 Gene

  • Cytohesin 1 2 3 5
  • PH, SEC7 And Coiled-Coil Domain-Containing Protein 1 3 4
  • Pleckstrin Homology, Sec7 And Coiled-Coil Domains 1 2 3
  • SEC7 Homolog B2-1 3 4
  • D17S811E 3 4
  • PSCD1 3 4
  • Homolog Of Secretory Protein SEC7 3
  • Cytoadhesin 1 3
  • CYTOHESIN-1 3
  • B2-1 3
  • SEC7 3

External Ids for CYTH1 Gene

Previous HGNC Symbols for CYTH1 Gene

  • PSCD1

Previous GeneCards Identifiers for CYTH1 Gene

  • GC17M074182
  • GC17M076670
  • GC17M072092

Summaries for CYTH1 Gene

Entrez Gene Summary for CYTH1 Gene

  • The protein encoded by this gene is a member of the PSCD family. Members of this family 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 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 gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

GeneCards Summary for CYTH1 Gene

CYTH1 (Cytohesin 1) is a Protein Coding gene. Among its related pathways are Phospholipase D signaling pathway and Intra-Golgi traffic. GO annotations related to this gene include lipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is CYTH3.

UniProtKB/Swiss-Prot for CYTH1 Gene

  • Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP.

Gene Wiki entry for CYTH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYTH1 Gene

Genomics for CYTH1 Gene

Regulatory Elements for CYTH1 Gene

Enhancers for CYTH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G078733 2.1 FANTOM5 Ensembl ENCODE dbSUPER 41.7 +35.5 35467 27.0 MLX CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 CYTH1 USP36 SOCS3 RNU6-638P DNAH17 ENGASE TNRC6C-AS1 PGS1
GH17G078777 2 FANTOM5 Ensembl ENCODE dbSUPER 30.2 +0.7 657 8.8 HDGF PKNOX1 FOXA2 ARNT ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 USP36 CYTH1 RNU6-638P TNRC6C-AS1 ENGASE
GH17G078770 1.5 FANTOM5 ENCODE dbSUPER 37.6 +8.5 8452 6.5 HDGF TBP PKNOX1 FOXA2 KLF17 BMI1 ZBTB40 ZNF335 ZNF121 SCRT2 CYTH1 USP36 SOCS3 ENGASE TNRC6C-AS1 PGS1 RNU6-638P
GH17G078788 1.3 Ensembl ENCODE dbSUPER 19.2 -8.2 -8243 4.2 HDAC1 CTCF PKNOX1 ZIC2 RAD21 KAT2B TEAD3 FOSL1 HIC1 POLR2A USP36 CYTH1 RNU6-638P PGS1 TNRC6C-AS1 GC17P078829
GH17G078767 1 FANTOM5 Ensembl dbSUPER 23.9 +14.0 14003 0.9 WRNIP1 ZNF600 CYTH1 PGS1 CANT1 USP36 SOCS3 RNU6-638P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYTH1 on UCSC Golden Path with GeneCards custom track

Promoters for CYTH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098967 542 2401 HDGF FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 KLF13

Genomic Location for CYTH1 Gene

Chromosome:
17
Start:
78,674,047 bp from pter
End:
78,782,342 bp from pter
Size:
108,296 bases
Orientation:
Minus strand

Genomic View for CYTH1 Gene

Genes around CYTH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYTH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYTH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYTH1 Gene

Proteins for CYTH1 Gene

  • Protein details for CYTH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15438-CYH1_HUMAN
    Recommended name:
    Cytohesin-1
    Protein Accession:
    Q15438
    Secondary Accessions:
    • A6NFW7
    • B7Z1T4
    • Q9P123
    • Q9P124

    Protein attributes for CYTH1 Gene

    Size:
    398 amino acids
    Molecular mass:
    46413 Da
    Quaternary structure:
    • Interacts with TRIM23 and CYTIP.

    Three dimensional structures from OCA and Proteopedia for CYTH1 Gene

    Alternative splice isoforms for CYTH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYTH1 Gene

Post-translational modifications for CYTH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CYTH1 Gene

Domains & Families for CYTH1 Gene

Gene Families for CYTH1 Gene

Protein Domains for CYTH1 Gene

Suggested Antigen Peptide Sequences for CYTH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15438

UniProtKB/Swiss-Prot:

CYH1_HUMAN :
  • Binds via its PH domain to the inositol head group of phosphatidylinositol 3,4,5-trisphosphate.
Domain:
  • Binds via its PH domain to the inositol head group of phosphatidylinositol 3,4,5-trisphosphate.
  • Autoinhibited by its C-terminal basic region.
genes like me logo Genes that share domains with CYTH1: view

Function for CYTH1 Gene

Molecular function for CYTH1 Gene

UniProtKB/Swiss-Prot Function:
Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP.

Gene Ontology (GO) - Molecular Function for CYTH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005086 ARF guanyl-nucleotide exchange factor activity TAS,IDA 10652308
GO:0005515 protein binding IPI 11867758
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with CYTH1: view
genes like me logo Genes that share phenotypes with CYTH1: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYTH1 Gene

Localization for CYTH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYTH1 Gene

Cell membrane; Peripheral membrane protein. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYTH1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 5
nucleus 3
endoplasmic reticulum 2
endosome 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CYTH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IDA 12606567
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,IEA 12606567
GO:0005923 bicellular tight junction ISS --
genes like me logo Genes that share ontologies with CYTH1: view

Pathways & Interactions for CYTH1 Gene

genes like me logo Genes that share pathways with CYTH1: view

Pathways by source for CYTH1 Gene

Gene Ontology (GO) - Biological Process for CYTH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 vesicle-mediated transport TAS 1511013
GO:0030155 regulation of cell adhesion IDA 12606567
GO:0032012 regulation of ARF protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0090162 establishment of epithelial cell polarity ISS --
genes like me logo Genes that share ontologies with CYTH1: view

No data available for SIGNOR curated interactions for CYTH1 Gene

Drugs & Compounds for CYTH1 Gene

(4) Drugs for CYTH1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(10) Additional Compounds for CYTH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CYTH1: view

Transcripts for CYTH1 Gene

Unigene Clusters for CYTH1 Gene

Cytohesin 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYTH1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c
SP1: - - - - -
SP2:
SP3: - - - - - - - - - - -
SP4: - - -
SP5: - -
SP6:
SP7:

Relevant External Links for CYTH1 Gene

GeneLoc Exon Structure for
CYTH1
ECgene alternative splicing isoforms for
CYTH1

Expression for CYTH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYTH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYTH1 Gene

This gene is overexpressed in Whole Blood (x5.2).

Protein differential expression in normal tissues from HIPED for CYTH1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.3) and Serum (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CYTH1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CYTH1 Gene:

CYTH1

SOURCE GeneReport for Unigene cluster for CYTH1 Gene:

Hs.191215

mRNA Expression by UniProt/SwissProt for CYTH1 Gene:

Q15438-CYH1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CYTH1 Gene

  • Nervous system(5)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with CYTH1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYTH1 Gene

Orthologs for CYTH1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CYTH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYTH1 34 35
  • 99.32 (n)
oppossum
(Monodelphis domestica)
Mammalia CYTH1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYTH1 34 35
  • 92.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CYTH1 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CYTH1 34 35
  • 90.19 (n)
rat
(Rattus norvegicus)
Mammalia Cyth1 34
  • 89.28 (n)
mouse
(Mus musculus)
Mammalia Cyth1 34 16 35
  • 88.19 (n)
chicken
(Gallus gallus)
Aves CYTH1 34 35
  • 84.17 (n)
lizard
(Anolis carolinensis)
Reptilia CYTH1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyth2 34
  • 78.12 (n)
zebrafish
(Danio rerio)
Actinopterygii cyth1b 35
  • 91 (a)
OneToMany
cyth1a 34 35
  • 80.13 (n)
wufc89h04 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008737 34
  • 66.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta step 34 35
  • 63.96 (n)
worm
(Caenorhabditis elegans)
Secernentea grp-1 35
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC7 35
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8851 35
  • 65 (a)
ManyToMany
-- 35
  • 63 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.707 34
Species where no ortholog for CYTH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYTH1 Gene

ENSEMBL:
Gene Tree for CYTH1 (if available)
TreeFam:
Gene Tree for CYTH1 (if available)

Paralogs for CYTH1 Gene

Pseudogenes.org Pseudogenes for CYTH1 Gene

genes like me logo Genes that share paralogs with CYTH1: view

Variants for CYTH1 Gene

Sequence variations from dbSNP and Humsavar for CYTH1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000010552 -- 78,703,818(+) TCTGT(C/T)TATCC intron-variant
rs1000048700 -- 78,686,706(+) TTTTT(A/C)CACGG intron-variant
rs1000057863 -- 78,749,666(+) AAAAT(A/T)AAAAA intron-variant
rs1000074321 -- 78,683,969(+) CATAA(A/T)GTATA intron-variant
rs1000117535 -- 78,731,092(+) CTACA(A/G)AATCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYTH1 Gene

Variant ID Type Subtype PubMed ID
dgv3285n100 CNV loss 25217958
esv2716320 CNV deletion 23290073
esv2716321 CNV deletion 23290073
nsv1118770 CNV deletion 24896259
nsv482920 CNV loss 15286789
nsv519983 CNV gain 19592680
nsv522366 CNV gain 19592680
nsv819517 CNV loss 19587683

Variation tolerance for CYTH1 Gene

Residual Variation Intolerance Score: 22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYTH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYTH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYTH1 Gene

Disorders for CYTH1 Gene

Relevant External Links for CYTH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYTH1

No disorders were found for CYTH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYTH1 Gene

Publications for CYTH1 Gene

  1. Cytohesin-1 regulates the Arf6-phospholipase D signaling axis in human neutrophils: impact on superoxide anion production and secretion. (PMID: 20018626) El Azreq M.A. … Bourgoin S.G. (J. Immunol. 2010) 2 3 22 64
  2. The Arl4 family of small G proteins can recruit the cytohesin Arf6 exchange factors to the plasma membrane. (PMID: 17398095) Hofmann I. … Munro S. (Curr. Biol. 2007) 3 4 22 64
  3. Cybr, a cytokine-inducible protein that binds cytohesin-1 and regulates its activity. (PMID: 11867758) Tang P. … Gadina M. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 22 64
  4. Similarities in function and gene structure of cytohesin-4 and cytohesin-1, guanine nucleotide-exchange proteins for ADP-ribosylation factors. (PMID: 10652308) Ogasawara M. … Vaughan M. (J. Biol. Chem. 2000) 3 4 22 64
  5. Specific functional interaction of human cytohesin-1 and ADP- ribosylation factor domain protein (ARD1). (PMID: 10748148) Vitale N. … Vaughan M. (J. Biol. Chem. 2000) 3 4 22 64

Products for CYTH1 Gene

Sources for CYTH1 Gene

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