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

CYTH1 Protein Structure

Sec7

0
100
200
300
398 a.a.

Protein Preferred Names

Protein Names

cytohesin-1

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03501	CYTH1 Human Pre-designed siRNA Set A		/	Unkown

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

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