KDSR - 3-ketodihydrosphingosine reductase Gene

Homo sapiens

Also known as DHSR; FVT1; EKVP4; SDR35C1

Gene ID: 2531 | Gene type: protein coding

About KDSR

Cytogenetic location: 18q21.33 Genomic coordinates (GRCh38): 18:63,327,726-63,367,206 (from NCBI)

This gene has 13 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 49 phenotypes. Ubiquitous expression in ovary (RPKM 14.9), skin (RPKM 11.7) and 25 other tissues.

Summary

The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]

KDSR Products(1)

mRNA	Protein	Name
NM_002035.4	NP_002026.1	3-ketodihydrosphingosine reductase precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3-dehydrosphinganine reductase activity	IDA IDA: Inferred from direct assay	15364918	GOA
enables 3-dehydrosphinganine reductase activity	IMP IMP: Inferred from mutant phenotype	19141869	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within 3-keto-sphinganine metabolic process	IDA IDA: Inferred from direct assay	15364918	GOA
involved in 3-keto-sphinganine metabolic process	IMP IMP: Inferred from mutant phenotype	19141869	GOA
involved in sphingolipid biosynthetic process	IMP IMP: Inferred from mutant phenotype	19141869	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15364918	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

KDSR Protein Structure

adh_short

0
100
200
300
332 a.a.

Protein Preferred Names

Protein Names

3-ketodihydrosphingosine reductase

3-dehydrosphinganine reductase

KDSR Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KDSR	Q06136	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	KDSR	Q06136	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	KDSR	Q06136	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	KDSR	Q06136	HSPB1	Homo sapiens	P04792	Validated Y2H	32814053
Intra	KDSR	Q06136	HSPB1	Homo sapiens	P04792	Y2H Pooling	32814053
Intra	KDSR	Q06136	HSPB1	Homo sapiens	P04792	Y2H Array	32814053
Intra	KDSR	Q06136	TTR	Homo sapiens	P02766	Y2H Array	32814053
Intra	KDSR	Q06136	TTR	Homo sapiens	P02766	Y2H Pooling	32814053
Intra	KDSR	Q06136	TTR	Homo sapiens	P02766	Validated Y2H	32814053
Intra	KDSR	Q06136	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	KDSR	Q06136	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	KDSR	Q06136	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Erythrokeratodermia Variabilis Et Progressiva 4

EKVP4

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis	Erythrokeratodermia Variabilis Et Progressiva
Greither Disease	Ekv
Ekvp	PSEK
Erythrokeratodermia Variabilis With Erythema Gyratum Repens	Keratosis Palmoplantaris Transgrediens Et Progrediens
Transgrediens Et Progrediens Palmoplantar Keratoderma	EKVP1
Erythrokeratodermia, Progressive Symmetric	Erythrokeratodermia Figurata, Congenital Familial, In Plaques
Keratoderma Palmoplantaris Transgrediens	Keratosis Extremitatum Hereditaria Progrediens
Erythrokeratodermia Variabilis, Mendes Da Costa Type	Progressive Symmetric Erythrokeratodermia
Erythrokeratodermia Figurata Variabilis	Greither'S Disease
Ekv-P	Erythrokeratodermia Variabilis Of Mendes Da Costa
Progressive Symmetrical Erythrokeratoderma Of Gottron	Progressive Diffuse Ppk
Progressive Diffuse Palmoplantar Keratoderma	Transgrediens Et Progrediens Ppk
Darier-Gottron Disease	Erythrokeratodermia Progressiva Symmetrica
Progressive Symmetric Erythrokeratodermia, Gottron Type	Congenital Familial Erythrokeratodermia Figurata In Plaques
Erythrokeratodermia Progressive Symmetric	Erythrokeratodermia Variabilis Mendes Da Costa Type

Follicular Lymphoma

Lymphoma, Follicular	Lymphoma Follicular
Brill-Symmers' Disease	Large Cell Follicular Non-Hodgkin Lymphoma
Diffuse Follicle Centre Lymphoma	Diffuse Follicular Lymphoma Nos
Follicular Nodular Non-Hodgkin Lymphoma, Unspecified	Follicular Large Cell Cleaved Or Noncleaved Lymphoma
Large Cell Follicular Noncleaved Lymphoma	Follicular Lymphoma With Or Without Diffuse Areas
Histiocytic Follicular Lymphoma	Histiocytic Nodular Lymphoma
Histiocytic Nodular Malignant Lymphoma	Large Cell Follicular Lymphoma
Large Cell Noncleaved Follicular Lymphoma	Large Cell Noncleaved Follicular Malignant Lymphoma
Nodular Reticulum Cell Sarcoma	Noncleaved Follicular Lymphoma

Lymphoma

Lymphoid Cancer	Lymphomas
Lymphoid Cancers	Lymphoid Neoplasm
Lymphoma Nos	Nhl - [Non-Hodgkin Lymphoma]
Non-Hodgkin Lymphoma	Non-Hodgkin Lymphoma, Nos
Non-Hodgkin Malignant Lymphoma Nos

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Spastic Paraplegia 46, Autosomal Recessive

SPG46	Hereditary Spastic Paraplegia 46
Autosomal Recessive Spastic Paraplegia Type 46	Autosomal Recessive Spastic Paraplegia 46
Paraplegia, Spastic, Type 46, Autosomal Recessive

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis	Autosomal Recessive Congenital Ichthyosis 4b
Hi	Harlequin Fetus
ARCI4B	Ichthyosis Congenita, Harlequin Fetus Type
Harlequin Type Ichthyosis	'Harlequin Fetus'
Harlequin Type Ichthyosis Congenita	Harlequin Type Ichthyosis Fetalis
Harlequin Baby Syndrome	Ichthyosis Congenita, Harlequin Type
Ichthyosis Fetalis, Harlequin Type	Ichthyosis Congenita Harlequin Fetus Type
Ichthyosis, Harlequin	Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07229	KDSR Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KDSR	VGNC	VGNC:30536
Canis familiaris	KDSR	VGNC	VGNC:53728
Felis catus	KDSR	VGNC	VGNC:63075
Mus musculus	KDSR	MGD	MGI:1918000
Macaca mulatta	KDSR	VGNC	VGNC:73954
Rattus norvegicus	KDSR	RGD	RGD:1307775

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