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CYTH1 cytohesin 1 [ Homo sapiens (human) ]

Gene ID: 9267, updated on 13-Oct-2018

Summary

Official Symbol
CYTH1provided by HGNC
Official Full Name
cytohesin 1provided by HGNC
Primary source
HGNC:HGNC:9501
See related
Ensembl:ENSG00000108669 MIM:182115; Vega:OTTHUMG00000150253
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

Genomic context

See CYTH1 in Genome Data Viewer
Location:
17q25.3
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (78674047..78782342, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76670130..76778376, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 17 Neighboring gene RNA, 7SL, cytoplasmic 454, pseudogene Neighboring gene S-phase cancer associated transcript 1 Neighboring gene uncharacterized LOC112268196 Neighboring gene RNA, U6 small nuclear 638, pseudogene Neighboring gene ubiquitin specific peptidase 36 Neighboring gene ribosomal protein L9 pseudogene 29

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Class I PI3K signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Class I PI3K signaling events, organism-specific biosystem
    Class I PI3K signaling events
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Intra-Golgi traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi traffic, organism-specific biosystemThe mammalian Golgi consists of at least three biochemically distinct cisternae, cis-, medial- and trans (reviewed in Szul and Sztul, 2011; Day et al, 2013). The structure and function of the Golgi a...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Phospholipase D signaling pathway, organism-specific biosystem (from KEGG)
    Phospholipase D signaling pathway, organism-specific biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
  • Phospholipase D signaling pathway, conserved biosystem (from KEGG)
    Phospholipase D signaling pathway, conserved biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34050, FLJ41900

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ARF guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
establishment of epithelial cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
vesicle-mediated transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
adherens junction IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extrinsic component of cytoplasmic side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001292018.1NP_001278947.1  cytohesin-1 isoform 3

    See identical proteins and their annotated locations for NP_001278947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5'-terminal exon, differs in its 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AA030002, AK293894, BC050452
    Consensus CDS
    CCDS86644.1
    UniProtKB/Swiss-Prot
    Q15438
    Related
    ENSP00000466512.1, ENST00000589297.5
    Conserved Domains (2) summary
    cd01252
    Location:200320
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  2. NM_001292019.1NP_001278948.1  cytohesin-1 isoform 3

    See identical proteins and their annotated locations for NP_001278948.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate 5'-terminal exon, differs in its 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AA030002, AK316075, BC050452, DA125333
    Consensus CDS
    CCDS86644.1
    UniProtKB/Swiss-Prot
    Q15438
    UniProtKB/TrEMBL
    B7Z9W0
    Related
    ENSP00000465940.1, OTTHUMP00000257184, ENST00000585509.5, OTTHUMT00000437979
    Conserved Domains (2) summary
    cd01252
    Location:200320
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  3. NM_001365037.1NP_001351966.1  cytohesin-1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022966, AC099804
    Conserved Domains (2) summary
    cd01252
    Location:259377
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:62244
    Sec7; Sec7 domain
  4. NM_001365038.1NP_001351967.1  cytohesin-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022966, AC099804
    Conserved Domains (2) summary
    cd01252
    Location:200319
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  5. NM_001365039.1NP_001351968.1  cytohesin-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022966, AC099804
    Conserved Domains (2) summary
    cd01252
    Location:200319
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  6. NM_001365040.1NP_001351969.1  cytohesin-1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC022966, AC099804
    Conserved Domains (2) summary
    cd01252
    Location:261380
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:64246
    Sec7; Sec7 domain
  7. NM_001365041.1NP_001351970.1  cytohesin-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC099804
    Conserved Domains (2) summary
    cd01252
    Location:200319
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  8. NM_004762.3NP_004753.1  cytohesin-1 isoform 1

    See identical proteins and their annotated locations for NP_004753.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA030002, AK123894, BC050452, HY049953
    Consensus CDS
    CCDS42392.3
    UniProtKB/Swiss-Prot
    Q15438
    Related
    ENSP00000389095.3, ENST00000446868.7
    Conserved Domains (2) summary
    cd01252
    Location:259379
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:62244
    Sec7; Sec7 domain
  9. NM_017456.3NP_059430.2  cytohesin-1 isoform 2

    See identical proteins and their annotated locations for NP_059430.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AA030002, AK123894, BC050452, BX339155, HY049953
    Consensus CDS
    CCDS32754.1
    UniProtKB/Swiss-Prot
    Q15438
    Related
    ENSP00000465665.1, OTTHUMP00000196779, ENST00000591455.5, OTTHUMT00000317100
    Conserved Domains (2) summary
    cd01252
    Location:259378
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:62244
    Sec7; Sec7 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    78674047..78782342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451029.1XP_024306797.1  cytohesin-1 isoform X5

    Conserved Domains (2) summary
    cd01252
    Location:200319
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  2. XM_017025336.1XP_016880825.1  cytohesin-1 isoform X1

    Conserved Domains (2) summary
    cd01252
    Location:261380
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:64246
    Sec7; Sec7 domain
  3. XM_011525478.2XP_011523780.1  cytohesin-1 isoform X6

    Conserved Domains (2) summary
    cd01252
    Location:96216
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:181
    Sec7; Sec7 domain
  4. XM_017025338.2XP_016880827.1  cytohesin-1 isoform X5

    Related
    OTTHUMP00000257182
    Conserved Domains (2) summary
    cd01252
    Location:200319
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  5. XM_024451030.1XP_024306798.1  cytohesin-1 isoform X6

    Conserved Domains (2) summary
    cd01252
    Location:96216
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:181
    Sec7; Sec7 domain
  6. XM_011525476.3XP_011523778.1  cytohesin-1 isoform X2

    See identical proteins and their annotated locations for XP_011523778.1

    Conserved Domains (3) summary
    cd01252
    Location:200319
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam00169
    Location:204318
    PH; PH domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  7. XM_011525475.3XP_011523777.1  cytohesin-1 isoform X2

    See identical proteins and their annotated locations for XP_011523777.1

    Conserved Domains (3) summary
    cd01252
    Location:200319
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam00169
    Location:204318
    PH; PH domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  8. XM_011525477.1XP_011523779.1  cytohesin-1 isoform X4

    See identical proteins and their annotated locations for XP_011523779.1

    UniProtKB/Swiss-Prot
    Q15438
    Conserved Domains (2) summary
    cd01252
    Location:200320
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:3185
    Sec7; Sec7 domain
  9. XM_017025337.1XP_016880826.1  cytohesin-1 isoform X3

    Conserved Domains (2) summary
    cd01252
    Location:259377
    PH_GRP1-like; General Receptor for Phosphoinositides-1-like Pleckstrin homology (PH) domain
    pfam01369
    Location:62244
    Sec7; Sec7 domain
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