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Protein

Serine palmitoyltransferase 2

Gene

SPTLC2

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. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.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 <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.

<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

  • pyridoxal phosphate binding Source: InterPro
  • serine C-palmitoyltransferase activity Source: UniProtKB

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:HS02117-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

<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 2 (EC:2.3.1.50)
Alternative name(s):
Long chain base biosynthesis protein 2
Short name:
LCB 2
Long chain base biosynthesis protein 2a
Short name:
LCB2a
Serine-palmitoyl-CoA transferase 2
Short name:
SPT 2
<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:SPTLC2
Synonyms:KIAA0526, LCB2
<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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000100596.6

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11278 SPTLC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605713 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15270

<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 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>Transmembranei67 – 87HelicalSequence 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

<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

Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. SPTLC2 disease mutations cause a shift in the substrate specificity of SPT resulting in the alternative use of L-alanine and L-glycine over its canonical substrate L-serine. This leads to the production of 1-deoxysphingolipids that cannot be correctly metabolized (PubMed:23658386).1 Publication
Disease descriptionA form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness.
See also OMIM:613640
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_069525182A → P in HSAN1C; reduced activity with L-serine as substrate; increased activity toward L-alanine resulting in the accumulation of 1-deoxy-sphinganine. 1 PublicationCorresponds to variant dbSNP:rs864621998EnsemblClinVar.1
Natural variantiVAR_064798359V → M in HSAN1C; partial loss of normal activity as measured by reduced formation of sphinganine; affects enzymatic affinity resulting in the accumulation of the alternative metabolite 1-deoxy-sphinganine. 1 PublicationCorresponds to variant dbSNP:rs267607090EnsemblClinVar.1
Natural variantiVAR_064799382G → V in HSAN1C; complete loss of normal activity as measured by lack of formation of sphinganine; affects enzymatic affinity resulting in the accumulation of the alternative metabolite 1-deoxy-sphinganine. 1 PublicationCorresponds to variant dbSNP:rs267607089EnsemblClinVar.1
Natural variantiVAR_064800504I → F in HSAN1C; partial loss of normal activity as measured by reduced formation of sphinganine; affects enzymatic affinity resulting in the accumulation of the alternative metabolite 1-deoxy-sphinganine. 1 PublicationCorresponds to variant dbSNP:rs267607091EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
9517

MalaCards human disease database

More...
MalaCardsi
SPTLC2
MIMi613640 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100596

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

More...
Orphaneti
36386 Hereditary sensory and autonomic neuropathy type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36107

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1250344

Drug and drug target database

More...
DrugBanki
DB00133 L-Serine
DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SPTLC2

<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_00001638581 – 562Serine palmitoyltransferase 2Add BLAST562

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 residuei379N6-(pyridoxal phosphate)lysineBy similarity1

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O15270

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O15270

MaxQB - The MaxQuant DataBase

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MaxQBi
O15270

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

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PaxDbi
O15270

PeptideAtlas

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PeptideAtlasi
O15270

PRoteomics IDEntifications database

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PRIDEi
O15270

ProteomicsDB human proteome resource

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ProteomicsDBi
48559

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O15270

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

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PhosphoSitePlusi
O15270

<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

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000100596 Expressed in 219 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

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CleanExi
HS_SPTLC2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O15270 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O15270 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA027552

<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 SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (SPTSSA and SPTSSB).1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114894, 18 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O15270

Database of interacting proteins

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DIPi
DIP-34604N

Protein interaction database and analysis system

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IntActi
O15270, 15 interactors

Molecular INTeraction database

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MINTi
O15270

STRING: functional protein association networks

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STRINGi
9606.ENSP00000216484

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O15270

<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

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ProteinModelPortali
O15270

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

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SMRi
O15270

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1357 Eukaryota
COG0156 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155786

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000206826

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG002230

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15270

KEGG Orthology (KO)

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KOi
K00654

Identification of Orthologs from Complete Genome Data

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OMAi
ISQGQPK

Database of Orthologous Groups

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OrthoDBi
438936at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O15270

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

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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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

O15270-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRPEPGGCCC RRTVRANGCV ANGEVRNGYV RSSAAAAAAA AAGQIHHVTQ
60 70 80 90 100
NGGLYKRPFN EAFEETPMLV AVLTYVGYGV LTLFGYLRDF LRYWRIEKCH
110 120 130 140 150
HATEREEQKD FVSLYQDFEN FYTRNLYMRI RDNWNRPICS VPGARVDIME
160 170 180 190 200
RQSHDYNWSF KYTGNIIKGV INMGSYNYLG FARNTGSCQE AAAKVLEEYG
210 220 230 240 250
AGVCSTRQEI GNLDKHEELE ELVARFLGVE AAMAYGMGFA TNSMNIPALV
260 270 280 290 300
GKGCLILSDE LNHASLVLGA RLSGATIRIF KHNNMQSLEK LLKDAIVYGQ
310 320 330 340 350
PRTRRPWKKI LILVEGIYSM EGSIVRLPEV IALKKKYKAY LYLDEAHSIG
360 370 380 390 400
ALGPTGRGVV EYFGLDPEDV DVMMGTFTKS FGASGGYIGG KKELIDYLRT
410 420 430 440 450
HSHSAVYATS LSPPVVEQII TSMKCIMGQD GTSLGKECVQ QLAENTRYFR
460 470 480 490 500
RRLKEMGFII YGNEDSPVVP LMLYMPAKIG AFGREMLKRN IGVVVVGFPA
510 520 530 540 550
TPIIESRARF CLSAAHTKEI LDTALKEIDE VGDLLQLKYS RHRLVPLLDR
560
PFDETTYEET ED
Length:562
Mass (Da):62,924
Last modified:January 1, 1998 - 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:i0C1AA1E233DE36F1
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YJV2H0YJV2_HUMAN
Serine palmitoyltransferase 2
SPTLC2
407Annotation 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>
H0YJ96H0YJ96_HUMAN
Serine palmitoyltransferase 2
SPTLC2
40Annotation 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 BAA25452 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti61 – 64EAFE → TLAR in AAC50871 (PubMed:8921873).Curated4
Sequence conflicti436 – 469KECVQ…DSPVV → NGITIHEVVQTRNTYHRFSP LSPVFSHQCLWIML (PubMed:8921873).CuratedAdd BLAST34

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069525182A → P in HSAN1C; reduced activity with L-serine as substrate; increased activity toward L-alanine resulting in the accumulation of 1-deoxy-sphinganine. 1 PublicationCorresponds to variant dbSNP:rs864621998EnsemblClinVar.1
Natural variantiVAR_064798359V → M in HSAN1C; partial loss of normal activity as measured by reduced formation of sphinganine; affects enzymatic affinity resulting in the accumulation of the alternative metabolite 1-deoxy-sphinganine. 1 PublicationCorresponds to variant dbSNP:rs267607090EnsemblClinVar.1
Natural variantiVAR_064799382G → V in HSAN1C; complete loss of normal activity as measured by lack of formation of sphinganine; affects enzymatic affinity resulting in the accumulation of the alternative metabolite 1-deoxy-sphinganine. 1 PublicationCorresponds to variant dbSNP:rs267607089EnsemblClinVar.1
Natural variantiVAR_064800504I → F in HSAN1C; partial loss of normal activity as measured by reduced formation of sphinganine; affects enzymatic affinity resulting in the accumulation of the alternative metabolite 1-deoxy-sphinganine. 1 PublicationCorresponds to variant dbSNP:rs267607091EnsemblClinVar.1

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
Y08686 mRNA Translation: CAA69942.1
AB011098 mRNA Translation: BAA25452.2 Different initiation.
AF111168 Genomic DNA Translation: AAD09621.1
BC005123 mRNA Translation: AAH05123.1
U15555 mRNA Translation: AAC50871.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9865.1

Protein sequence database of the Protein Information Resource

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PIRi
I38873

NCBI Reference Sequences

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RefSeqi
NP_004854.1, NM_004863.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.435661

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000216484; ENSP00000216484; ENSG00000100596

Database of genes from NCBI RefSeq genomes

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GeneIDi
9517

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9517

UCSC genome browser

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UCSCi
uc001xub.4 human

<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
Y08686 mRNA Translation: CAA69942.1
AB011098 mRNA Translation: BAA25452.2 Different initiation.
AF111168 Genomic DNA Translation: AAD09621.1
BC005123 mRNA Translation: AAH05123.1
U15555 mRNA Translation: AAC50871.1
CCDSiCCDS9865.1
PIRiI38873
RefSeqiNP_004854.1, NM_004863.3
UniGeneiHs.435661

3D structure databases

ProteinModelPortaliO15270
SMRiO15270
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114894, 18 interactors
CORUMiO15270
DIPiDIP-34604N
IntActiO15270, 15 interactors
MINTiO15270
STRINGi9606.ENSP00000216484

Chemistry databases

BindingDBiO15270
ChEMBLiCHEMBL1250344
DrugBankiDB00133 L-Serine
DB00114 Pyridoxal Phosphate

PTM databases

iPTMnetiO15270
PhosphoSitePlusiO15270

Polymorphism and mutation databases

BioMutaiSPTLC2

Proteomic databases

EPDiO15270
jPOSTiO15270
MaxQBiO15270
PaxDbiO15270
PeptideAtlasiO15270
PRIDEiO15270
ProteomicsDBi48559

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9517
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216484; ENSP00000216484; ENSG00000100596
GeneIDi9517
KEGGihsa:9517
UCSCiuc001xub.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9517
DisGeNETi9517
EuPathDBiHostDB:ENSG00000100596.6

GeneCards: human genes, protein and diseases

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GeneCardsi
SPTLC2
HGNCiHGNC:11278 SPTLC2
HPAiHPA027552
MalaCardsiSPTLC2
MIMi605713 gene
613640 phenotype
neXtProtiNX_O15270
OpenTargetsiENSG00000100596
Orphaneti36386 Hereditary sensory and autonomic neuropathy type 1
PharmGKBiPA36107

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1357 Eukaryota
COG0156 LUCA
GeneTreeiENSGT00940000155786
HOGENOMiHOG000206826
HOVERGENiHBG002230
InParanoidiO15270
KOiK00654
OMAiISQGQPK
OrthoDBi438936at2759
PhylomeDBiO15270
TreeFamiTF300452

Enzyme and pathway databases

UniPathwayi
UPA00222

BioCyciMetaCyc:HS02117-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
SPTLC2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SPTLC2

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

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GenomeRNAii
9517

Protein Ontology

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PROi
PR:O15270

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000100596 Expressed in 219 organ(s), highest expression level in corpus callosum
CleanExiHS_SPTLC2
ExpressionAtlasiO15270 baseline and differential
GenevisibleiO15270 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
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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 nameiSPTC2_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: O15270
Secondary accession number(s): Q16685
<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: May 30, 2000
Last sequence update: January 1, 1998
Last modified: January 16, 2019
This is version 174 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 14
    Human chromosome 14: 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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