2. Gene
  3. CRYL1 - crystallin lambda 1 Gene

CRYL1 - crystallin lambda 1 Gene

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

中文名称：晶状体λ1

种属: Homo sapiens

同用名: GDH; HEL30; gul3DH; lambda-CRY

基因 ID: 51084 | 基因类型: protein coding

关于 CRYL1

Cytogenetic location: 13q12.11 Genomic coordinates (GRCh38): 13:20,403,669-20,525,857 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues and 3 paralogues. Broad expression in kidney (RPKM 110.5), duodenum (RPKM 59.6) and 21 other tissues.

功能概要

糖醛酸循环作为替代葡萄糖代谢途径发挥作用，约占每日葡萄糖分解代谢的 5%。该基因的产物在糖醛酸循环中催化 L-古洛糖酸脱氢为脱氢-L-古洛糖酸。该酶需要 NAD (H) 作为辅酶，并被无机磷酸盐抑制。兔子中的一个相似基因被认为在眼睛晶状体中发挥结构作用。[RefSeq 提供，2008 年 7 月]

The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]

CRYL1 基因产物(2)

mRNA Protein Name
NM_001363647.2 NP_001350576.1 lambda-crystallin homolog isoform 2
NM_015974.3 NP_057058.2 lambda-crystallin homolog isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables L-gulonate 3-dehydrogenase activity IDA
IDA: 通过直接分析推断
15809331 GOA
enables NAD+ binding IDA
IDA: 通过直接分析推断
15809331 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
15809331 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CRYL1 蛋白结构

3HCDH_N

3HCDH_N: 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain (9 - 188)

3HCDH

3HCDH: 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain (192 - 280)

  • 0
  • 100
  • 200
  • 300
  • 319 a.a.
蛋白主名 其他名称

lambda-crystallin homolog

L-gulonate 3-dehydrogenase

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
Deafness, Autosomal Recessive 1a

DFNB1A

Deafness, Digenic, Gjb2/Gjb3

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/Gjb6

Deafness, Digenic Gjb2/Gjb6

Autosomal Recessive Deafness 1a

Deafness, Autosomal Recessive, 1a

Deafness Digenic Gjb2/Gjb3

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1a
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-RS03217 CRYL1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CRYL1 VGNC VGNC:27744
Macaca mulatta CRYL1 VGNC VGNC:71433
Canis familiaris CRYL1 VGNC VGNC:39647
Mus musculus CRYL1 MGD MGI:1915881
Rattus norvegicus CRYL1 RGD RGD:631427
Felis catus CRYL1 VGNC VGNC:61208
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