KDSR - 3-ketodihydrosphingosine reductase Gene

Also Known as DHSR; FVT1; EKVP4; SDR35C1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2531

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N10706	3-Keto sphinganine (d18:0)		/	Unkown
HY-RS07229	KDSR Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	KDSR	NCBI