CRYL1 - crystallin lambda 1 Gene

Also Known as GDH; HEL30; gul3DH; lambda-CRY

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51084

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables L-gulonate 3-dehydrogenase activity	IDA IDA: Inferred from direct assay	15809331	GOA
enables NAD+ binding	IDA IDA: Inferred from direct assay	15809331	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	15809331	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRYL1 Protein Structure

3HCDH_N

3HCDH

0
100
200
300
319 a.a.

Protein Preferred Names	Protein Names
lambda-crystallin homolog	L-gulonate 3-dehydrogenase

Related Diseases

Diseases	Alias
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

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-RS03217	CRYL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	CRYL1	NCBI