1. Gene
  2. CYTH1 - cytohesin 1 Gene

CYTH1 - cytohesin 1 Gene

Homo sapiens

Also known as B2-1; SEC7; PSCD1; D17S811E; CYTOHESIN-1

Gene ID: 9267 | Gene type: protein coding

About CYTH1

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:78,674,048-78,782,273 (from NCBI)

This gene has 17 transcripts (splice variants), 280 orthologues and 15 paralogues. Ubiquitous expression in lymph node (RPKM 26.6), bone marrow (RPKM 23.4) and 25 other tissues.

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]

CYTH1 Products(12)

mRNA Protein Name
NM_001292018.4 NP_001278947.1 cytohesin-1 isoform 3
NM_001292019.4 NP_001278948.1 cytohesin-1 isoform 3
NM_001365037.2 NP_001351966.1 cytohesin-1 isoform 4
NM_001365038.2 NP_001351967.1 cytohesin-1 isoform 5
NM_001365039.2 NP_001351968.1 cytohesin-1 isoform 5
NM_001365040.2 NP_001351969.1 cytohesin-1 isoform 6
NM_001365041.3 NP_001351970.1 cytohesin-1 isoform 5
NM_001394676.1 NP_001381605.1 cytohesin-1 isoform 5
NM_001394677.1 NP_001381606.1 cytohesin-1 isoform 7
NM_001394678.1 NP_001381607.1 cytohesin-1 isoform 8
NM_004762.6 NP_004753.1 cytohesin-1 isoform 1
NM_017456.4 NP_059430.2 cytohesin-1 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
10652308 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11867758 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within regulation of cell adhesion IDA
IDA: Inferred from direct assay
12606567 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12606567 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
12606567 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYTH1 Protein Structure

Sec7

Sec7: Sec7 domain (62 - 244)

PH

PH: PH domain (263 - 377)

  • 0
  • 100
  • 200
  • 300
  • 398 a.a.
Protein Preferred Names Protein Names

cytohesin-1

PH, SEC7 and coiled-coil domain-containing protein 1

CYTH1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CYTH1 Q15438 IPCEF1 Homo sapiens Q8WWN9
Y2H Prey Pooling
32296183
Intra
CYTH1 Q15438 IPCEF1 Homo sapiens Q8WWN9
Validated Y2H
32296183
Intra
CYTH1 Q15438 IPCEF1 Homo sapiens Q8WWN9
Y2H Array
32296183
Intra
CYTH1 Q15438 INAVA Homo sapiens Q3KP66-1
BRET
31022698
Intra
CYTH1 Q15438 INAVA Homo sapiens Q3KP66-1
Y2H
31022698
Intra
CYTH1 Q15438 CNKSR1 Homo sapiens Q969H4
Validated Y2H
32296183
Intra
CYTH1 Q15438 CNKSR1 Homo sapiens Q969H4
Anti Tag CoIP
33961781
Intra
CYTH1 Q15438 CNKSR1 Homo sapiens Q969H4
Y2H Prey Pooling
32296183
Intra
CYTH1 Q15438 CNKSR1 Homo sapiens Q969H4
Y2H Array
32296183
Intra
CYTH1 Q15438 CCDC120 Homo sapiens Q96HB5
Validated Y2H
32296183
Intra
CYTH1 Q15438 CCDC120 Homo sapiens Q96HB5
Y2H Array
32296183
Intra
CYTH1 Q15438 CCDC120 Homo sapiens Q96HB5
Y2H Prey Pooling
32296183
Intra
CYTH1 Q15438 INAVA Homo sapiens Q3KP66
Anti Tag CoIP
29420262
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities

IDDSSBA

Ankylosing Spondylitis 1

Ankylosing Spondylitis, Susceptibility To, 1

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1

Mrx18

Mrx78

X-Linked Mental Retardation 1/78

X-Linked Mental Retardation 18

Psoriasis 3

PSORS3

Psoriasis Susceptibility 3

Psoriasis 3, Susceptibility To

Psoriasis 2

PSORS2

Psoriasis

Psoriasis Vulgaris

Pv

Psoriasis, Susceptibility To, Type 2

Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CYTH1 RGD RGD:620397
Felis catus CYTH1 VGNC VGNC:69095
Canis familiaris CYTH1 VGNC VGNC:49091
Macaca mulatta CYTH1 VGNC VGNC:71828
Bos taurus CYTH1 VGNC VGNC:55809
Mus musculus CYTH1 MGD MGI:1334257