SSR4 - signal sequence receptor subunit 4 Gene

Homo sapiens

Also known as CDG1Y; TRAPD

Gene ID: 6748 | Gene type: protein coding

About SSR4

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,794,159-153,798,512 (from NCBI)

This gene has 12 transcripts (splice variants), 196 orthologues and is associated with 2 phenotypes. Ubiquitous expression in pancreas (RPKM 97.6), stomach (RPKM 67.4) and 25 other tissues.

Summary

This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]

SSR4 Products(3)

mRNA	Protein	Name
NM_001204526.1	NP_001191455.1	translocon-associated protein subunit delta isoform 1 precursor
NM_001204527.2	NP_001191456.1	translocon-associated protein subunit delta isoform 3 precursor
NM_006280.3	NP_006271.1	translocon-associated protein subunit delta isoform 2 precursor

SSR4 Protein Structure

TRAP-delta

0
100
173 a.a.

Protein Preferred Names

Protein Names

translocon-associated protein subunit delta

SSR-delta

Related Diseases

Diseases

Alias

Congenital Disorder Of Glycosylation, Type Iy

CDG1Y	Cdg Iy
Cdgiy	Ssr4-Cdg
Cdg-Iy	Congenital Disorder Of Glycosylation Type Iy
Congenital Disorder Of Glycosylation 1y	Cdg Syndrome Type Iy
Carbohydrate Deficient Glycoprotein Syndrome Type Iy	Congenital Disorder Of Glycosylation Type 1y
Congenital Disorder Of Glycosylation Iy	Glycosylation, Congenital Disorder Of, Type Iy

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Terminal Osseous Dysplasia

Terminal Osseous Dysplasia And Pigmentary Defects	Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Todpd	TOD
Odpd	Odpf Syndrome
Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula	Odpf
Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula	Terminal Osseous Dysplasia With Pigmentary Defects
Dcd	Digitocutaneous Dysplasia
Terminal Osseous Dysplasia And Pigmentary Defect Syndrome	Osseous Dysplasia And Pigmentary Defects

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

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-RS13817	SSR4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SSR4	VGNC	VGNC:65709
Canis familiaris	SSR4	VGNC	VGNC:46840
Mus musculus	SSR4	MGD	MGI:1099464
Macaca mulatta	SSR4	VGNC	VGNC:77890
Rattus norvegicus	SSR4	RGD	RGD:62034
Bos taurus	SSR4	VGNC	VGNC:35322

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