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Entry version 149 (18 Sep 2019)
Sequence version 3 (02 Oct 2007)
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Protein

Serine palmitoyltransferase 3

Gene

SPTLC3

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

Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. SPT complexes containing SPTLC3 generate shorter chain sphingoid bases compared to complexes containing SPTLC2. The SPTLC1-SPTLC3-SPTSSA isozyme uses C12-CoA, C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. On the other hand, the SPTLC1-SPTLC3-SPTSSB has the ability to use a broader range of acyl-CoAs without apparent preference.2 Publications

<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 ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

pyridoxal 5'-phosphateBy similarity

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.04 mM for hexadecanoyl-CoA1 Publication
  2. KM=0.03 mM for tetradecanoyl-CoA1 Publication
  1. Vmax=120 pmol/min/mg enzyme toward hexadecanoyl-CoA1 Publication
  2. Vmax=60 pmol/min/mg enzyme toward tetradecanoyl-CoA1 Publication

<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.2 Publications
View all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.

<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

GO - Biological processi

<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 functionAcyltransferase, Transferase
Biological processLipid metabolism, Sphingolipid metabolism
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS16070-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.3.1.50 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:000000153

<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:
Serine palmitoyltransferase 3Curated (EC:2.3.1.502 Publications)
Alternative name(s):
Long chain base biosynthesis protein 2b
Short name:
LCB2b
Long chain base biosynthesis protein 3
Short name:
LCB 3
Serine-palmitoyl-CoA transferase 3
Short name:
SPT 3
<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:SPTLC3Imported
Synonyms:C20orf38, SPTLC2L
<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 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:16253 SPTLC3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611120 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NUV7

<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 & Seán O’Donoghue; 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 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>Transmembranei59 – 79HelicalSequence analysisAdd BLAST21

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
55304

Open Targets

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OpenTargetsi
ENSG00000172296

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162404677

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00114 Pyridoxal phosphate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SPTLC3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
158931158

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000794261 – 552Serine palmitoyltransferase 3Add BLAST552

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei371N6-(pyridoxal phosphate)lysineBy similarity1

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NUV7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NUV7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NUV7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NUV7

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

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PaxDbi
Q9NUV7

PeptideAtlas

More...
PeptideAtlasi
Q9NUV7

PRoteomics IDEntifications database

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PRIDEi
Q9NUV7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
82722 [Q9NUV7-1]
82723 [Q9NUV7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NUV7

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

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PhosphoSitePlusi
Q9NUV7

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q9NUV7

<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 most tissues, except peripheral blood cells and bone marrow, with highest levels in heart, kidney, liver, uterus and skin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000172296 Expressed in 184 organ(s), highest expression level in chorionic villus

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NUV7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NUV7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044247
HPA048079

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer with SPTLC2 or SPTLC3.

Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. The composition of the complex will define the substrate specificity.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
SPTLC1O152693EBI-11614219,EBI-1044323

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120590, 1 interactor

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9NUV7

Database of interacting proteins

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DIPi
DIP-60753N

Protein interaction database and analysis system

More...
IntActi
Q9NUV7, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000381968

<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

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

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SMRi
Q9NUV7

Database of comparative protein structure models

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ModBasei
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

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1357 Eukaryota
COG0156 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158513

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NUV7

KEGG Orthology (KO)

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KOi
K00654

Identification of Orthologs from Complete Genome Data

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OMAi
IDDAHAV

Database of Orthologous Groups

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OrthoDBi
438936at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NUV7

TreeFam database of animal gene trees

More...
TreeFami
TF300452

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.640.10, 1 hit
3.90.1150.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001917 Aminotrans_II_pyridoxalP_BS
IPR004839 Aminotransferase_I/II
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00155 Aminotran_1_2, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53383 SSF53383, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00599 AA_TRANSFER_CLASS_2, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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.

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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NUV7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MANPGGGAVC NGKLHNHKKQ SNGSQSRNCT KNGIVKEAQQ NGKPHFYDKL
60 70 80 90 100
IVESFEEAPL HVMVFTYMGY GIGTLFGYLR DFLRNWGIEK CNAAVERKEQ
110 120 130 140 150
KDFVPLYQDF ENFYTRNLYM RIRDNWNRPI CSAPGPLFDL MERVSDDYNW
160 170 180 190 200
TFRFTGRVIK DVINMGSYNF LGLAAKYDES MRTIKDVLEV YGTGVASTRH
210 220 230 240 250
EMGTLDKHKE LEDLVAKFLN VEAAMVFGMG FATNSMNIPA LVGKGCLILS
260 270 280 290 300
DELNHTSLVL GARLSGATIR IFKHNNTQSL EKLLRDAVIY GQPRTRRAWK
310 320 330 340 350
KILILVEGVY SMEGSIVHLP QIIALKKKYK AYLYIDEAHS IGAVGPTGRG
360 370 380 390 400
VTEFFGLDPH EVDVLMGTFT KSFGASGGYI AGRKDLVDYL RVHSHSAVYA
410 420 430 440 450
SSMSPPIAEQ IIRSLKLIMG LDGTTQGLQR VQQLAKNTRY FRQRLQEMGF
460 470 480 490 500
IIYGNENASV VPLLLYMPGK VAAFARHMLE KKIGVVVVGF PATPLAEARA
510 520 530 540 550
RFCVSAAHTR EMLDTVLEAL DEMGDLLQLK YSRHKKSARP ELYDETSFEL

ED
Length:552
Mass (Da):62,049
Last modified:October 2, 2007 - v3
<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:iEED341220DCA683A
GO
Isoform 2 (identifier: Q9NUV7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     102-175: DFVPLYQDFE...GSYNFLGLAA → VRMRTSLDLC...WATTICHIPN
     176-552: Missing.

Show »
Length:175
Mass (Da):19,693
Checksum:i0B52D6020D5F73F3
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AKS2B1AKS2_HUMAN
Serine palmitoyltransferase 3
SPTLC3 SPTLC2L, RP5-1077I2.1-001
139Annotation 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>
H0Y733H0Y733_HUMAN
Serine palmitoyltransferase 3
SPTLC3
121Annotation 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>
B1AKS3B1AKS3_HUMAN
Serine palmitoyltransferase 3
SPTLC3 SPTLC2L, RP5-1077I2.1-002
215Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH05205 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Natural variant

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_048230140L → V1 PublicationCorresponds to variant dbSNP:rs243887Ensembl.1
Isoform 2 (identifier: Q9NUV7-2)
Natural varianti149P → A. Corresponds to variant dbSNP:rs934335Ensembl.1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_028167102 – 175DFVPL…LGLAA → VRMRTSLDLCQCLLLSKVFS EVVMQVQILESMRCSGTIQG KFHSSPPPKPHYPWAYGPVF TNISWATTICHIPN in isoform 2. 2 PublicationsAdd BLAST74
Alternative sequenceiVSP_028168176 – 552Missing in isoform 2. 2 PublicationsAdd BLAST377

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK001974 mRNA Translation: BAA92012.1
AL133331
, AL050320, AL109983, AL445589 Genomic DNA Translation: CAM13116.1
AL445589
, AL050320, AL109983, AL133331 Genomic DNA Translation: CAM16427.1
AL050320
, AL109983, AL133331, AL445589 Genomic DNA Translation: CAM27358.1
AL109983
, AL050320, AL133331, AL445589 Genomic DNA Translation: CAM28300.1
BC005205 mRNA Translation: AAH05205.1 Sequence problems.
BC020656 mRNA Translation: AAH20656.1
BC150644 mRNA Translation: AAI50645.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13115.2 [Q9NUV7-1]

NCBI Reference Sequences

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RefSeqi
NP_060797.2, NM_018327.2 [Q9NUV7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000399002; ENSP00000381968; ENSG00000172296 [Q9NUV7-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55304

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55304

UCSC genome browser

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UCSCi
uc002wod.2 human [Q9NUV7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AK001974 mRNA Translation: BAA92012.1
AL133331
, AL050320, AL109983, AL445589 Genomic DNA Translation: CAM13116.1
AL445589
, AL050320, AL109983, AL133331 Genomic DNA Translation: CAM16427.1
AL050320
, AL109983, AL133331, AL445589 Genomic DNA Translation: CAM27358.1
AL109983
, AL050320, AL133331, AL445589 Genomic DNA Translation: CAM28300.1
BC005205 mRNA Translation: AAH05205.1 Sequence problems.
BC020656 mRNA Translation: AAH20656.1
BC150644 mRNA Translation: AAI50645.1
CCDSiCCDS13115.2 [Q9NUV7-1]
RefSeqiNP_060797.2, NM_018327.2 [Q9NUV7-1]

3D structure databases

SMRiQ9NUV7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120590, 1 interactor
CORUMiQ9NUV7
DIPiDIP-60753N
IntActiQ9NUV7, 4 interactors
STRINGi9606.ENSP00000381968

Chemistry databases

DrugBankiDB00114 Pyridoxal phosphate
SwissLipidsiSLP:000000153

PTM databases

iPTMnetiQ9NUV7
PhosphoSitePlusiQ9NUV7
SwissPalmiQ9NUV7

Polymorphism and mutation databases

BioMutaiSPTLC3
DMDMi158931158

Proteomic databases

EPDiQ9NUV7
jPOSTiQ9NUV7
MassIVEiQ9NUV7
MaxQBiQ9NUV7
PaxDbiQ9NUV7
PeptideAtlasiQ9NUV7
PRIDEiQ9NUV7
ProteomicsDBi82722 [Q9NUV7-1]
82723 [Q9NUV7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000399002; ENSP00000381968; ENSG00000172296 [Q9NUV7-1]
GeneIDi55304
KEGGihsa:55304
UCSCiuc002wod.2 human [Q9NUV7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55304
DisGeNETi55304

GeneCards: human genes, protein and diseases

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GeneCardsi
SPTLC3
HGNCiHGNC:16253 SPTLC3
HPAiHPA044247
HPA048079
MIMi611120 gene
neXtProtiNX_Q9NUV7
OpenTargetsiENSG00000172296
PharmGKBiPA162404677

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1357 Eukaryota
COG0156 LUCA
GeneTreeiENSGT00940000158513
InParanoidiQ9NUV7
KOiK00654
OMAiIDDAHAV
OrthoDBi438936at2759
PhylomeDBiQ9NUV7
TreeFamiTF300452

Enzyme and pathway databases

UniPathwayiUPA00222
BioCyciMetaCyc:HS16070-MONOMER
BRENDAi2.3.1.50 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
SPTLC3 human

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

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GenomeRNAii
55304

Pharos

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Pharosi
Q9NUV7

Protein Ontology

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PROi
PR:Q9NUV7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000172296 Expressed in 184 organ(s), highest expression level in chorionic villus
ExpressionAtlasiQ9NUV7 baseline and differential
GenevisibleiQ9NUV7 HS

Family and domain databases

Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 1 hit
InterProiView protein in InterPro
IPR001917 Aminotrans_II_pyridoxalP_BS
IPR004839 Aminotransferase_I/II
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major
PfamiView protein in Pfam
PF00155 Aminotran_1_2, 1 hit
SUPFAMiSSF53383 SSF53383, 1 hit
PROSITEiView protein in PROSITE
PS00599 AA_TRANSFER_CLASS_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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 nameiSPTC3_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: Q9NUV7
Secondary accession number(s): A2A2I4
, B9EK64, Q05DQ8, Q5T1U4, Q9H1L1, Q9H1Z0
<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: October 10, 2002
Last sequence update: October 2, 2007
Last modified: September 18, 2019
This is version 149 of the entry and version 3 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 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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