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SSR4 - signal sequence receptor subunit 4 Gene

Also Known as CDG1Y; TRAPD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6748

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

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 Set	/	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