Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51084
Gene name	Crystallin lambda 1
Gene symbol	CRYL1
Synonyms (NCBI Gene)	GDHHEL30gul3DHlambda-CRY
Chromosome	13
Chromosome location	13q12.11
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 req

Show/Hide all (97)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029226	hsa-miR-26b-5p	Microarray	19088304
MIRT911182	hsa-miR-1587	CLIP-seq
MIRT911183	hsa-miR-1915	CLIP-seq
MIRT911184	hsa-miR-3605-3p	CLIP-seq
MIRT911185	hsa-miR-3609	CLIP-seq
MIRT911186	hsa-miR-4417	CLIP-seq
MIRT911187	hsa-miR-4492	CLIP-seq
MIRT911188	hsa-miR-4498	CLIP-seq
MIRT911189	hsa-miR-4632	CLIP-seq
MIRT911190	hsa-miR-4656	CLIP-seq
MIRT911191	hsa-miR-4661-3p	CLIP-seq
MIRT911192	hsa-miR-4675	CLIP-seq
MIRT911193	hsa-miR-4685-5p	CLIP-seq
MIRT911194	hsa-miR-4731-3p	CLIP-seq
MIRT911195	hsa-miR-4741	CLIP-seq
MIRT911196	hsa-miR-4755-3p	CLIP-seq
MIRT911197	hsa-miR-4801	CLIP-seq
MIRT911198	hsa-miR-520g	CLIP-seq
MIRT911199	hsa-miR-520h	CLIP-seq
MIRT911200	hsa-miR-548ah	CLIP-seq
MIRT911201	hsa-miR-640	CLIP-seq
MIRT911202	hsa-miR-651	CLIP-seq
MIRT911203	hsa-miR-762	CLIP-seq
MIRT1970202	hsa-miR-3190	CLIP-seq
MIRT1970203	hsa-miR-671-5p	CLIP-seq
MIRT2206130	hsa-miR-3155	CLIP-seq
MIRT2206131	hsa-miR-3155b	CLIP-seq
MIRT1970202	hsa-miR-3190	CLIP-seq
MIRT2206132	hsa-miR-4286	CLIP-seq
MIRT911194	hsa-miR-4731-3p	CLIP-seq
MIRT911197	hsa-miR-4801	CLIP-seq
MIRT2206133	hsa-miR-484	CLIP-seq
MIRT2206134	hsa-miR-510	CLIP-seq
MIRT1970203	hsa-miR-671-5p	CLIP-seq
MIRT2509285	hsa-miR-1234	CLIP-seq
MIRT2509286	hsa-miR-1296	CLIP-seq
MIRT911182	hsa-miR-1587	CLIP-seq
MIRT2509287	hsa-miR-3130-3p	CLIP-seq
MIRT2206130	hsa-miR-3155	CLIP-seq
MIRT2206131	hsa-miR-3155b	CLIP-seq
MIRT2509288	hsa-miR-3158-3p	CLIP-seq
MIRT1970202	hsa-miR-3190	CLIP-seq
MIRT911184	hsa-miR-3605-3p	CLIP-seq
MIRT2509289	hsa-miR-3920	CLIP-seq
MIRT2509290	hsa-miR-4255	CLIP-seq
MIRT2206132	hsa-miR-4286	CLIP-seq
MIRT2509291	hsa-miR-4327	CLIP-seq
MIRT911186	hsa-miR-4417	CLIP-seq
MIRT2509292	hsa-miR-4446-3p	CLIP-seq
MIRT911187	hsa-miR-4492	CLIP-seq
MIRT911188	hsa-miR-4498	CLIP-seq
MIRT2509293	hsa-miR-4512	CLIP-seq
MIRT911190	hsa-miR-4656	CLIP-seq
MIRT911191	hsa-miR-4661-3p	CLIP-seq
MIRT911192	hsa-miR-4675	CLIP-seq
MIRT2509294	hsa-miR-4712-3p	CLIP-seq
MIRT2509295	hsa-miR-4721	CLIP-seq
MIRT911194	hsa-miR-4731-3p	CLIP-seq
MIRT911195	hsa-miR-4741	CLIP-seq
MIRT2509296	hsa-miR-4771	CLIP-seq
MIRT911197	hsa-miR-4801	CLIP-seq
MIRT2206133	hsa-miR-484	CLIP-seq
MIRT2206134	hsa-miR-510	CLIP-seq
MIRT911202	hsa-miR-651	CLIP-seq
MIRT1970203	hsa-miR-671-5p	CLIP-seq
MIRT911203	hsa-miR-762	CLIP-seq
MIRT2509297	hsa-miR-767-5p	CLIP-seq
MIRT2509285	hsa-miR-1234	CLIP-seq
MIRT2509286	hsa-miR-1296	CLIP-seq
MIRT911182	hsa-miR-1587	CLIP-seq
MIRT2509287	hsa-miR-3130-3p	CLIP-seq
MIRT2206130	hsa-miR-3155	CLIP-seq
MIRT2206131	hsa-miR-3155b	CLIP-seq
MIRT2509288	hsa-miR-3158-3p	CLIP-seq
MIRT911184	hsa-miR-3605-3p	CLIP-seq
MIRT2509289	hsa-miR-3920	CLIP-seq
MIRT2509290	hsa-miR-4255	CLIP-seq
MIRT2206132	hsa-miR-4286	CLIP-seq
MIRT2509291	hsa-miR-4327	CLIP-seq
MIRT911186	hsa-miR-4417	CLIP-seq
MIRT2509292	hsa-miR-4446-3p	CLIP-seq
MIRT911187	hsa-miR-4492	CLIP-seq
MIRT911188	hsa-miR-4498	CLIP-seq
MIRT2509293	hsa-miR-4512	CLIP-seq
MIRT911190	hsa-miR-4656	CLIP-seq
MIRT911191	hsa-miR-4661-3p	CLIP-seq
MIRT911192	hsa-miR-4675	CLIP-seq
MIRT2509295	hsa-miR-4721	CLIP-seq
MIRT911194	hsa-miR-4731-3p	CLIP-seq
MIRT911195	hsa-miR-4741	CLIP-seq
MIRT2509296	hsa-miR-4771	CLIP-seq
MIRT911197	hsa-miR-4801	CLIP-seq
MIRT2206133	hsa-miR-484	CLIP-seq
MIRT2206134	hsa-miR-510	CLIP-seq
MIRT911202	hsa-miR-651	CLIP-seq
MIRT911203	hsa-miR-762	CLIP-seq
MIRT2509297	hsa-miR-767-5p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0019640	Process	D-glucuronate catabolic process to D-xylulose 5-phosphate	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	15809331
GO:0050104	Function	L-gulonate 3-dehydrogenase activity	IBA
GO:0050104	Function	L-gulonate 3-dehydrogenase activity	IDA	15809331
GO:0050104	Function	L-gulonate 3-dehydrogenase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070403	Function	NAD+ binding	IDA	15809331
GO:0070403	Function	NAD+ binding	IEA

MIM	HGNC	e!Ensembl
609877	18246	ENSG00000165475

Q9Y2S2

Protein name

Lambda-crystallin homolog (EC 1.1.1.45) (L-gulonate 3-dehydrogenase) (Gul3DH)

Protein function

Has high L-gulonate 3-dehydrogenase activity. It also exhibits low dehydrogenase activity toward L-3-hydroxybutyrate (HBA) and L-threonate.

PDB

3F3S

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02737	3HCDH_N	8 → 190	3-hydroxyacyl-CoA dehydrogenase, NAD binding domain	Domain
PF00725	3HCDH	192 → 283	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in liver and kidney. {ECO:0000269|PubMed:12527201}.

Sequence

MASSAAGCVVIVGSGVIGRSWAMLFASGGFQVKLYDIEQQQIRNALENIRKEMKLLEQAG
SLKGSLSVEEQLSLISGCPNIQEAVEGAMHIQECVPEDLELKKKIFAQLDSIIDDRVILS
SSTSCLMPSKLFAGLVHVKQCIVAHPVNPPYYIPLVELVPHPETAPTTVDRTHALMKKIG
QCPMRVQKEVAGFVLNRLQYAIISEAWRLVEEGIVSPSDLDLVMSEGLGMRYAFIGPLET
MHLNAEGMLSYCDRYSEGIKHVLQTFGPIPEFSRATAEKVNQDMCMKVPDDPEHLAARRQ
WRDECLMRLAKLKSQVQPQ

Sequence length

319

Interactions

View interactions

	KEGG		Reactome
	Pentose and glucuronate interconversions Metabolic pathways		Formation of xylulose-5-phosphate

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYL1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENTEROCOLITIS, NECROTIZING	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROTIZING ENTEROCOLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	31753773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24958192, 28206976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29109286		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	6766754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29770168		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	28489570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28489570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	28782478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	22576711, 28970055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	23255486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	16333079, 20214085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28516749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28559964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	37683890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	22583614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	19690084, 25024374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	25024374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	29371936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31753773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19927314, 28489570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29770168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	12527201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31044344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	29614896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	CTD_human_DG	18806098		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	19927314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hyperoxaluria	Hyperoxaluria	BEFREE	9604806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CRYL1 (crystallin lambda 1)