1. Gene
  2. STT3B - STT3 oligosaccharyltransferase complex catalytic subunit B Gene

STT3B - STT3 oligosaccharyltransferase complex catalytic subunit B Gene

中文名称:STT3 寡糖转移酶复合催化亚基 B

种属: Homo sapiens

同用名: SIMP; CDG1X; STT3-B

基因 ID: 201595 | 基因类型: protein coding

关于 STT3B

Cytogenetic location: 3p23 Genomic coordinates (GRCh38): 3:31,532,925-31,637,616 (from NCBI)

This gene has 7 transcripts (splice variants), 274 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 42.8), thyroid (RPKM 37.3) and 25 other tissues.

功能概要

该基因编码的蛋白质是蛋白质复合物的催化亚基,可将寡糖转移到天冬酰胺残基上。该基因的缺陷是糖基化 Ix (CDG1X) 先天性障碍的一个原因。[RefSeq 提供,2014 年 6 月]

The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]

STT3B 基因产物(1)

mRNA Protein Name
NM_178862.3 NP_849193.1 dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B

STT3B 蛋白结构

STT3

STT3: Oligosaccharyl transferase STT3 subunit (72 - 563)

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  • 826 a.a.
蛋白主名 其他名称

dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B

STT3, subunit of the oligosaccharyltransferase complex, homolog B

关联疾病

疾病名称 别名
Congenital Disorder Of Glycosylation, Type Ix

CDG1X

Cdg Ix

Cdgix

Congenital Disorder Of Glycosylation 1x

Stt3b-Cdg

Cdg-Ix

Congenital Disorder Of Glycosylation Type Ix

Congenital Disorder Of Glycosylation Ix

Cdg Syndrome Type Ix

Carbohydrate Deficient Glycoprotein Syndrome Type Ix

Congenital Disorder Of Glycosylation Type 1x

Glycosylation, Congenital Disorder Of, Type Ix

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

XMEN

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

Cid Due To Magt1 Deficiency

Combined Immunodeficiency Due To Magt1 Deficiency

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An

X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia

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

Louping Ill
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus STT3B MGD MGI:1915542
Felis catus STT3B VGNC VGNC:65804
Bos taurus STT3B VGNC VGNC:35428
Macaca mulatta STT3B VGNC VGNC:78245
Canis familiaris STT3B VGNC VGNC:52904
Rattus norvegicus STT3B RGD RGD:1311563