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    CYTH1 cytohesin 1 [ Homo sapiens (human) ]

    Gene ID: 9267, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CYTH1provided by HGNC
    Official Full Name
    cytohesin 1provided by HGNC
    Primary source
    HGNC:HGNC:9501
    See related
    Ensembl:ENSG00000108669 MIM:182115; AllianceGenome:HGNC:9501
    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
    B2-1; SEC7; PSCD1; D17S811E; CYTOHESIN-1
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 26.6), bone marrow (RPKM 23.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYTH1 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78674048..78782273, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79568970..79677073, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76670130..76778355, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76614363-76614864 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76614865-76615364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76618411-76619402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76622057-76622556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76627973-76628474 Neighboring gene S-phase cancer associated transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76641825-76642326 Neighboring gene uncharacterized LOC124904066 Neighboring gene MPRA-validated peak3019 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76662364-76662975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76662976-76663586 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76663587-76664197 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76664198-76664807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76671141-76672019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76672283-76672784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76672785-76673284 Neighboring gene RNA, U6 small nuclear 638, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76719667-76720172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12905 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12909 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76770651-76771152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9072 Neighboring gene CRISPRi-validated cis-regulatory element chr17.5512 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47538 Neighboring gene ubiquitin specific peptidase 36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76834350-76834864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76834865-76835379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12913 Neighboring gene uncharacterized LOC124904067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9075 Neighboring gene ribosomal protein L9 pseudogene 29

    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. Cloning and sequencing of a human cDNA from cytolytic NK/T cells with homology to yeast SEC7. Liu L, et al. Biochim Biophys Acta, 1992 Aug 17. PMID 1511013
    2. Assignment of human B2-1 gene (D17S811E) to chromosome 17qter by PCR analysis of somatic cell hybrids and fluorescence in situ hybridization. Dixon B, et al. Cytogenet Cell Genet, 1993. PMID 8449036
    3. Phosphoinositide 3-OH kinase activates the beta2 integrin adhesion pathway and induces membrane recruitment of cytohesin-1. Nagel W, et al. J Biol Chem, 1998 Jun 12. PMID 9614087
    4. Editorial: Cytohesin-1, on the tail of two integrins. Hyduk SJ, et al. J Leukoc Biol, 2011 Jun. PMID 21628335
    5. B2-1, a Sec7- and pleckstrin homology domain-containing protein, localizes to the Golgi complex. Lee SY, et al. Exp Cell Res, 2000 May 1. PMID 10772823

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GBF1 alone maintains Golgi architecture; facilitates secretion; activates ADP-ribosylation factor (ARF)1, 3, 4, and 5; and recruits ARF effectors to Golgi membranes.
      Title: Promiscuity of the catalytic Sec7 domain within the guanine nucleotide exchange factor GBF1 in ARF activation, Golgi homeostasis, and effector recruitment.
    2. HGF-induced migration depends on the phosphatidylinositol 3,4,5-triphosphate-binding microexon-spliced variant of the Arf6 exchange factor cytohesin-1.
      Title: HGF-induced migration depends on the PI(3,4,5)P(3)-binding microexon-spliced variant of the Arf6 exchange factor cytohesin-1.
    3. computational study suggests that although curcumin to some extent binds with Tp receptor, yet the inhibition of Arf6GDP to Arf6GTP conversion appeared to be an important mechanism by which curcumin inhibits U46619-induced increase in PLD activity in PASMCs.
      Title: Role of curcumin in PLD activation by Arf6-cytohesin1 signaling axis in U46619-stimulated pulmonary artery smooth muscle cells.
    4. CYTH1 is a novel major regulator of adhesion and engraftment in human hematopoietic stem and progenitor cells through mechanisms that, at least in part, involve the activation of integrins.
      Title: Cytohesin 1 regulates homing and engraftment of human hematopoietic stem and progenitor cells.
    5. FRMD4A RNAi or inhibition of cytohesins strongly upregulated secretion of endogenous tau. These results suggest that FRMD4A, a genetic risk factor for late-onset Alzheimer's disease, regulates tau secretion by activating cytohesin-Arf6 signaling.
      Title: FRMD4A-cytohesin signaling modulates the cellular release of tau.
    6. cytohesin inhibition has an antiproliferative effect in gefitinib-resistant lung cancer cells
      Title: Anti-proliferative effect of cytohesin inhibition in gefitinib-resistant lung cancer cells.
    7. findings suggest that cytohesin-1 is a key regulator of neutrophil adhesion to endothelial cells and to components of extracellular matrix, which may influence cell emigration through its dual opposing effect on beta2 and beta1 integrin activation
      Title: Cytohesin-1 regulates human blood neutrophil adhesion to endothelial cells through β2 integrin activation.
    8. involvement of cytohesin-1 in the regulation of the functional responses of human PMNs, linked, in part at least, to the activation of Arf6.
      Title: Cytohesin-1 regulates the Arf6-phospholipase D signaling axis in human neutrophils: impact on superoxide anion production and secretion.
    9. demonstrate an essential role of cytohesin-1/RhoA during ameboid migration in the presence of integrins
      Title: Cytohesin-1 controls the activation of RhoA and modulates integrin-dependent adhesion and migration of dendritic cells.
    10. findings reveal that mycobacteria promote their uptake through a process of "inside-out" signaling involving CD14, TLR2, PI3K, and cytohesin-1. This converts low avidity CR3 into an active receptor leading to increased bacterial internalization
      Title: Cross-talk between CD14 and complement receptor 3 promotes phagocytosis of mycobacteria: regulation by phosphatidylinositol 3-kinase and cytohesin-1.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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 association study of co-occurring anxiety in major depression.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34050, FLJ41900

    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 establishment of epithelial cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of ARF protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytohesin-1
    Names
    PH, SEC7 and coiled-coil domain-containing protein 1
    SEC7 homolog B2-1
    cytoadhesin 1
    homolog of secretory protein SEC7
    pleckstrin homology, Sec7 and coiled-coil domains 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001292018.4 → NP_001278947.1  cytohesin-1 isoform 3

      See identical proteins and their annotated locations for NP_001278947.1

      Status: REVIEWED

      Source sequence(s)
      AC099804
      Consensus CDS
      CCDS86644.1
      UniProtKB/TrEMBL
      B7Z9W0
      Related
      ENSP00000466512.1, ENST00000589297.5
      Conserved Domains (2) summary
      cd01252
      Location:200 → 320
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:3 → 185
      Sec7; Sec7 domain

    2. NM_001292019.4 → NP_001278948.1  cytohesin-1 isoform 3

      See identical proteins and their annotated locations for NP_001278948.1

      Status: REVIEWED

      Source sequence(s)
      AC099804
      Consensus CDS
      CCDS86644.1
      UniProtKB/TrEMBL
      B7Z9W0
      Related
      ENSP00000465940.1, ENST00000585509.5
      Conserved Domains (2) summary
      cd01252
      Location:200 → 320
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:3 → 185
      Sec7; Sec7 domain

    3. NM_001365037.2 → NP_001351966.1  cytohesin-1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC022966, AC099804
      UniProtKB/TrEMBL
      B7Z9W0
      Conserved Domains (2) summary
      cd01252
      Location:259 → 377
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:62 → 244
      Sec7; Sec7 domain

    4. NM_001365038.2 → NP_001351967.1  cytohesin-1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022966, AC099804
      UniProtKB/TrEMBL
      B7Z9W0
      Conserved Domains (2) summary
      cd01252
      Location:200 → 319
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:3 → 185
      Sec7; Sec7 domain

    5. NM_001365039.2 → NP_001351968.1  cytohesin-1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022966, AC099804
      UniProtKB/TrEMBL
      B7Z9W0
      Conserved Domains (2) summary
      cd01252
      Location:200 → 319
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:3 → 185
      Sec7; Sec7 domain

    6. NM_001365040.2 → NP_001351969.1  cytohesin-1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC022966, AC099804
      Consensus CDS
      CCDS92406.1
      UniProtKB/TrEMBL
      B7Z9W0, K7ENQ8
      Related
      ENSP00000467052.2, ENST00000589768.6
      Conserved Domains (2) summary
      cd01252
      Location:261 → 380
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:64 → 246
      Sec7; Sec7 domain

    7. NM_001365041.3 → NP_001351970.1  cytohesin-1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC099804
      UniProtKB/TrEMBL
      B7Z9W0
      Conserved Domains (2) summary
      cd01252
      Location:200 → 319
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:3 → 185
      Sec7; Sec7 domain

    8. NM_001394676.1 → NP_001381605.1  cytohesin-1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC099804
      UniProtKB/TrEMBL
      B7Z9W0
      Conserved Domains (2) summary
      cd01252
      Location:200 → 319
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:3 → 185
      Sec7; Sec7 domain

    9. NM_001394677.1 → NP_001381606.1  cytohesin-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022966, AC099804
      UniProtKB/TrEMBL
      B7Z9W0
      Conserved Domains (2) summary
      cd00171
      Location:62 → 244
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
      cd01252
      Location:259 → 372
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain

    10. NM_001394678.1 → NP_001381607.1  cytohesin-1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC099804
      UniProtKB/TrEMBL
      B7Z9W0
      Conserved Domains (2) summary
      cd00171
      Location:3 → 185
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
      cd01252
      Location:200 → 313
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain

    11. NM_004762.6 → NP_004753.1  cytohesin-1 isoform 1

      See identical proteins and their annotated locations for NP_004753.1

      Status: REVIEWED

      Source sequence(s)
      AC022966, AC099804
      Consensus CDS
      CCDS42392.3
      UniProtKB/Swiss-Prot
      A6NFW7, B7Z1T4, Q15438, Q9P123, Q9P124
      UniProtKB/TrEMBL
      B7Z9W0
      Related
      ENSP00000389095.3, ENST00000446868.8
      Conserved Domains (2) summary
      cd01252
      Location:259 → 379
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:62 → 244
      Sec7; Sec7 domain

    12. NM_017456.4 → NP_059430.2  cytohesin-1 isoform 2

      See identical proteins and their annotated locations for NP_059430.2

      Status: REVIEWED

      Source sequence(s)
      AA030002, AK123894, BC050452, BX339155, HY049953
      Consensus CDS
      CCDS32754.1
      UniProtKB/TrEMBL
      B7Z9W0
      Related
      ENSP00000465665.1, ENST00000591455.5
      Conserved Domains (2) summary
      cd01252
      Location:259 → 378
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:62 → 244
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      78674048..78782273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437076.1 → XP_047293032.1  cytohesin-1 isoform X1

    2. XM_011525475.4 → XP_011523777.2  cytohesin-1 isoform X3

    3. XM_047437079.1 → XP_047293035.1  cytohesin-1 isoform X5

    4. XM_047437077.1 → XP_047293033.1  cytohesin-1 isoform X2

    5. XM_047437078.1 → XP_047293034.1  cytohesin-1 isoform X4

    6. XM_047437081.1 → XP_047293037.1  cytohesin-1 isoform X5

    7. XM_047437080.1 → XP_047293036.1  cytohesin-1 isoform X5

    8. XM_011525477.2 → XP_011523779.1  cytohesin-1 isoform X5

      See identical proteins and their annotated locations for XP_011523779.1

      UniProtKB/TrEMBL
      B7Z9W0
      Conserved Domains (2) summary
      cd01252
      Location:200 → 320
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:3 → 185
      Sec7; Sec7 domain

    9. XM_011525478.3 → XP_011523780.1  cytohesin-1 isoform X6

      UniProtKB/TrEMBL
      B4DLA7
      Conserved Domains (2) summary
      cd01252
      Location:96 → 216
      PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
      pfam01369
      Location:1 → 81
      Sec7; Sec7 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      79568970..79677073 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317802.1 → XP_054173777.1  cytohesin-1 isoform X1

    2. XM_054317804.1 → XP_054173779.1  cytohesin-1 isoform X3

    3. XM_054317806.1 → XP_054173781.1  cytohesin-1 isoform X5

    4. XM_054317803.1 → XP_054173778.1  cytohesin-1 isoform X2

    5. XM_054317805.1 → XP_054173780.1  cytohesin-1 isoform X4

    6. XM_054317808.1 → XP_054173783.1  cytohesin-1 isoform X5

    7. XM_054317807.1 → XP_054173782.1  cytohesin-1 isoform X5

    8. XM_054317809.1 → XP_054173784.1  cytohesin-1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15438.1 GenPept UniProtKB/Swiss-Prot:Q15438

    Gene LinkOut

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