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  2. XYLB - xylulokinase Gene

XYLB - xylulokinase Gene

中文名称:木酮糖激酶

种属: Homo sapiens

基因 ID: 9942 | 基因类型: protein coding

关于 XYLB

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:38,346,785-38,453,041 (from NCBI)

This gene has 7 transcripts (splice variants), 196 orthologues and 6 paralogues. Broad expression in liver (RPKM 5.0), kidney (RPKM 3.6) and 18 other tissues.

功能概要

该基因编码的蛋白质与流感嗜血杆菌木酮糖激酶具有 22% 的序列同一性,与秀丽隐杆线虫 (45%) 和酵母 (31-35%) 中的其他基因产物具有更高的同一性,这些基因被认为属于包括岩藻糖激酶、葡糖酸激酶、甘油激酶和木酮糖激酶的酶。这些蛋白质在能量代谢中起着重要作用。[RefSeq 提供,2009 年 8 月]

The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to Other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of Enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009]

XYLB 基因产物(4)

mRNA Protein Name
NM_001349178.2 NP_001336107.1 xylulose kinase isoform 1
NM_001349179.2 NP_001336108.1 xylulose kinase isoform 3
NM_001349180.2 NP_001336109.1 xylulose kinase isoform 4
NM_005108.4 NP_005099.2 xylulose kinase isoform 2

XYLB 蛋白结构

FGGY_N

FGGY_N: FGGY family of carbohydrate kinases, N-terminal domain (10 - 287)

FGGY_C

FGGY_C: FGGY family of carbohydrate kinases, C-terminal domain (296 - 480)

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  • 536 a.a.
蛋白主名 其他名称

xylulose kinase

D-xylulokinase

关联疾病

疾病名称 别名
Pentosuria

Xylitol Dehydrogenase Deficiency

L-Xylulosuria

L-Xylulose Reductase Deficiency

Essential Pentosuria

PNTSU

Essential Benign Pentosuria

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

Iminoglycinuria

Iminoglycinuria, Digenic

IG

Neutropenia, Severe Congenital, X-Linked

X-Linked Severe Congenital Neutropenia

XLN

SCNX

Severe Congenital Neutropenia X-Linked

Neutropenia, Congenital, Severe, X-Linked

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
Macaca mulatta XYLB VGNC VGNC:78815
Bos taurus XYLB VGNC VGNC:37011
Rattus norvegicus XYLB RGD RGD:1307372
Mus musculus XYLB MGD MGI:2142985
Felis catus XYLB VGNC VGNC:97690
Canis familiaris XYLB VGNC VGNC:48474