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Protein

3-ketodihydrosphingosine reductase

Gene

KDSR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: sphingolipid metabolism

This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei173SubstrateBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei186Proton acceptorPROSITE-ProRule annotation1
Active sitei190Curated1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi36 – 60NADPCuratedAdd BLAST25

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • 3-dehydrosphinganine reductase activity Source: MGI

GO - Biological processi

  • 3-keto-sphinganine metabolic process Source: MGI
  • sphingolipid biosynthetic process Source: GO_Central

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processLipid metabolism, Sphingolipid metabolism
LigandNADP

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS04306-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.1.1.102 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660661 Sphingolipid de novo biosynthesis

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00222

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000155

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
3-ketodihydrosphingosine reductase (EC:1.1.1.102)
Short name:
KDS reductase
Alternative name(s):
3-dehydrosphinganine reductase
Follicular variant translocation protein 1
Short name:
FVT-1
Short chain dehydrogenase/reductase family 35C member 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KDSR
Synonyms:FVT1, SDR35C1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000119537.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4021 KDSR

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
136440 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q06136

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini26 – 270CytoplasmicSequence analysisAdd BLAST245
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei271 – 291HelicalSequence analysisAdd BLAST21
Topological domaini292 – 293LumenalSequence analysis2
Transmembranei294 – 314HelicalSequence analysisAdd BLAST21
Topological domaini315 – 332CytoplasmicSequence analysisAdd BLAST18

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

A chromosomal aberration involving KDSR is a cause of follicular lymphoma; also known as type II chronic lymphatic leukemia. Translocation t(2;18)(p11;q21) with a Ig J kappa chain region (PubMed:8417785).1 Publication
Erythrokeratodermia variabilis et progressiva 4 (EKVP4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
See also OMIM:617526
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07918555 – 56QG → R in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 Publication2
Natural variantiVAR_07918686 – 107Missing in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 PublicationAdd BLAST22
Natural variantiVAR_079187186Y → F in EKVP4. 1 PublicationCorresponds to variant dbSNP:rs1114167452Ensembl.1
Natural variantiVAR_079188260 – 293Missing in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 PublicationAdd BLAST34

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma, Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
2531

MalaCards human disease database

More...
MalaCardsi
KDSR
MIMi617526 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000119537

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
317 Erythrokeratodermia variabilis
316 Progressive symmetric erythrokeratodermia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162392777

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KDSR

Domain mapping of disease mutations (DMDM)

More...
DMDMi
544358

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25Sequence analysisAdd BLAST25
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003198226 – 3323-ketodihydrosphingosine reductaseAdd BLAST307

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q06136

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q06136

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q06136

PeptideAtlas

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PeptideAtlasi
Q06136

PRoteomics IDEntifications database

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PRIDEi
Q06136

ProteomicsDB human proteome resource

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ProteomicsDBi
58417

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q06136

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q06136

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q06136

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in all tissues examined. Highest expression in placenta. High expression in lung, kidney, stomach and small intestine, low expression in heart, spleen and skeletal muscle. Weakly expressed in normal hematopoietic tissues. Higher expression in some T-cell malignancies and PHA-stimulated lymphocytes.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000119537 Expressed in 231 organ(s), highest expression level in endothelial cell

CleanEx database of gene expression profiles

More...
CleanExi
HS_KDSR

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q06136 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q06136 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB003673
HPA044884

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108807, 25 interactors

Protein interaction database and analysis system

More...
IntActi
Q06136, 7 interactors

Molecular INTeraction database

More...
MINTi
Q06136

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000385083

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q06136

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q06136

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1210 Eukaryota
ENOG410YF8M LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156961

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005757

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q06136

KEGG Orthology (KO)

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KOi
K04708

Identification of Orthologs from Complete Genome Data

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OMAi
NCAGMAI

Database of Orthologous Groups

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OrthoDBi
EOG091G0CEK

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q06136

TreeFam database of animal gene trees

More...
TreeFami
TF105430

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00106 adh_short, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00081 GDHRDH
PR00080 SDRFAMILY

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51735 SSF51735, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00061 ADH_SHORT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q06136-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLLLAAAFLV AFVLLLYMVS PLISPKPLAL PGAHVVVTGG SSGIGKCIAI
60 70 80 90 100
ECYKQGAFIT LVARNEDKLL QAKKEIEMHS INDKQVVLCI SVDVSQDYNQ
110 120 130 140 150
VENVIKQAQE KLGPVDMLVN CAGMAVSGKF EDLEVSTFER LMSINYLGSV
160 170 180 190 200
YPSRAVITTM KERRVGRIVF VSSQAGQLGL FGFTAYSASK FAIRGLAEAL
210 220 230 240 250
QMEVKPYNVY ITVAYPPDTD TPGFAEENRT KPLETRLISE TTSVCKPEQV
260 270 280 290 300
AKQIVKDAIQ GNFNSSLGSD GYMLSALTCG MAPVTSITEG LQQVVTMGLF
310 320 330
RTIALFYLGS FDSIVRRCMM QREKSENADK TA
Length:332
Mass (Da):36,187
Last modified:June 1, 1994 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCB4BA5D020858F0C
GO
Isoform 2 (identifier: Q06136-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     139-202: Missing.

Note: No experimental confirmation available.
Show »
Length:268
Mass (Da):29,159
Checksum:iEBEF59FDB6563735
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ERC8K7ERC8_HUMAN
3-ketodihydrosphingosine reductase
KDSR
298Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EQS7K7EQS7_HUMAN
3-ketodihydrosphingosine reductase
KDSR
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7U3A0A2R8Y7U3_HUMAN
3-ketodihydrosphingosine reductase
KDSR
39Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YF70A0A2R8YF70_HUMAN
3-ketodihydrosphingosine reductase
KDSR
39Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07918555 – 56QG → R in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 Publication2
Natural variantiVAR_07918686 – 107Missing in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 PublicationAdd BLAST22
Natural variantiVAR_079187186Y → F in EKVP4. 1 PublicationCorresponds to variant dbSNP:rs1114167452Ensembl.1
Natural variantiVAR_079188260 – 293Missing in EKVP4; loss of 3-dehydrosphinganine reductase activity. 1 PublicationAdd BLAST34

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056641139 – 202Missing in isoform 2. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X63657 mRNA Translation: CAA45197.1
BT006782 mRNA Translation: AAP35428.1
AK297670 mRNA Translation: BAG60032.1
AK312360 mRNA Translation: BAG35278.1
AC021803 Genomic DNA No translation available.
AC036176 Genomic DNA No translation available.
CH471096 Genomic DNA Translation: EAW63140.1
BC008797 mRNA Translation: AAH08797.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11982.1 [Q06136-1]

Protein sequence database of the Protein Information Resource

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PIRi
S37652

NCBI Reference Sequences

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RefSeqi
NP_002026.1, NM_002035.2 [Q06136-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.74050

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000326575; ENSP00000312939; ENSG00000119537 [Q06136-2]
ENST00000406396; ENSP00000385083; ENSG00000119537 [Q06136-1]
ENST00000645214; ENSP00000494352; ENSG00000119537 [Q06136-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2531

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2531

UCSC genome browser

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UCSCi
uc010dpw.4 human [Q06136-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X63657 mRNA Translation: CAA45197.1
BT006782 mRNA Translation: AAP35428.1
AK297670 mRNA Translation: BAG60032.1
AK312360 mRNA Translation: BAG35278.1
AC021803 Genomic DNA No translation available.
AC036176 Genomic DNA No translation available.
CH471096 Genomic DNA Translation: EAW63140.1
BC008797 mRNA Translation: AAH08797.1
CCDSiCCDS11982.1 [Q06136-1]
PIRiS37652
RefSeqiNP_002026.1, NM_002035.2 [Q06136-1]
UniGeneiHs.74050

3D structure databases

ProteinModelPortaliQ06136
SMRiQ06136
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108807, 25 interactors
IntActiQ06136, 7 interactors
MINTiQ06136
STRINGi9606.ENSP00000385083

Chemistry databases

SwissLipidsiSLP:000000155

PTM databases

iPTMnetiQ06136
PhosphoSitePlusiQ06136
SwissPalmiQ06136

Polymorphism and mutation databases

BioMutaiKDSR
DMDMi544358

Proteomic databases

EPDiQ06136
MaxQBiQ06136
PaxDbiQ06136
PeptideAtlasiQ06136
PRIDEiQ06136
ProteomicsDBi58417

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2531
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326575; ENSP00000312939; ENSG00000119537 [Q06136-2]
ENST00000406396; ENSP00000385083; ENSG00000119537 [Q06136-1]
ENST00000645214; ENSP00000494352; ENSG00000119537 [Q06136-1]
GeneIDi2531
KEGGihsa:2531
UCSCiuc010dpw.4 human [Q06136-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2531
DisGeNETi2531
EuPathDBiHostDB:ENSG00000119537.15

GeneCards: human genes, protein and diseases

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GeneCardsi
KDSR
HGNCiHGNC:4021 KDSR
HPAiCAB003673
HPA044884
MalaCardsiKDSR
MIMi136440 gene
617526 phenotype
neXtProtiNX_Q06136
OpenTargetsiENSG00000119537
Orphaneti317 Erythrokeratodermia variabilis
316 Progressive symmetric erythrokeratodermia
PharmGKBiPA162392777

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1210 Eukaryota
ENOG410YF8M LUCA
GeneTreeiENSGT00940000156961
HOVERGENiHBG005757
InParanoidiQ06136
KOiK04708
OMAiNCAGMAI
OrthoDBiEOG091G0CEK
PhylomeDBiQ06136
TreeFamiTF105430

Enzyme and pathway databases

UniPathwayi
UPA00222

BioCyciMetaCyc:HS04306-MONOMER
BRENDAi1.1.1.102 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KDSR human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
3-dehydrosphinganine_reductase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2531

Protein Ontology

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PROi
PR:Q06136

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000119537 Expressed in 231 organ(s), highest expression level in endothelial cell
CleanExiHS_KDSR
ExpressionAtlasiQ06136 baseline and differential
GenevisibleiQ06136 HS

Family and domain databases

InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR002347 SDR_fam
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKDSR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q06136
Secondary accession number(s): B2R5Y1, B4DMX0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: December 5, 2018
This is version 176 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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