2. Gene
  3. COLGALT1 - collagen beta(1-O)galactosyltransferase 1 Gene

COLGALT1 - collagen beta(1-O)galactosyltransferase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：胶原蛋白 β (1-O) 半乳糖基转移酶 1

种属: Homo sapiens

同用名: BSVD3; GLT25D1; ColGalT 1

基因 ID: 79709 | 基因类型: protein coding

关于 COLGALT1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,555,649-17,583,157 (from NCBI)

This gene has 10 transcripts (splice variants), 260 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in placenta (RPKM 27.5), appendix (RPKM 22.9) and 25 other tissues.

功能概要

由该基因编码的蛋白质是将半乳糖部分转移到胶原蛋白和甘露糖结合凝集素的羟赖氨酸残基的两种酶之一。该基因组成型表达并编码定位于内质网的可溶性蛋白质。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene is one of two Enzymes that transfers galactose moieties to hydroxylysine residues of Collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]

COLGALT1 基因产物(1)

mRNA Protein Name
NM_024656.4 NP_078932.2 procollagen galactosyltransferase 1 precursor

COLGALT1 蛋白结构

Glyco_tranf_2_4

Glyco_tranf_2_4: Glycosyl transferase family 2 (61 - 180)

Glyco_transf_25

Glyco_transf_25: Glycosyltransferase family 25 (LPS biosynthesis protein) (341 - 524)

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  • 622 a.a.
蛋白主名 其他名称

procollagen galactosyltransferase 1

glycosyltransferase 25 domain containing 1

关联疾病

疾病名称 别名
Brain Small Vessel Disease 3

BSVD3
Brain Small Vessel Disease
Porencephaly
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2

CADASIL2

Cadasil 2

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2

Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease

Htra1-Related Autosomal Dominant Cerebral Angiopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
Osteogenesis Imperfecta, Type Ix

Osteogenesis Imperfecta Type 9

Osteogenesis Imperfecta Type Ix

OI9

Oi Type Ix

Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen

Oi, Type Ix

Oi 9

Osteogenesis Imperfecta 9

Oi-Ix
Brain Small Vessel Disease 2

Porencephaly 2

BSVD2

Gould Syndrome 2

Porencephaly 2, Formerly

Poren2, Formerly

Poren2
Lice Infestation

Pediculosis

Louse Infestation

Mixed Pediculosis

Lice Infestations

Infestation By Pediculus

Mixed Pediculosis Infestation

Pediculosis + Lice

Pediculosis And Phthirus Infection

Pediculosis And Phthirus Infections

Pediculosis And Phthirus Infestation

Infestation By Anoplura

Pediculus Infestation

Lice Nos
Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03006 COLGALT1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus COLGALT1 RGD RGD:1309002
Bos taurus COLGALT1 VGNC VGNC:53572
Canis familiaris COLGALT1 VGNC VGNC:54592
Felis catus COLGALT1 VGNC VGNC:78412
Macaca mulatta COLGALT1 VGNC VGNC:109605
Mus musculus COLGALT1 MGD MGI:1924348
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