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Entry version 135 (16 Oct 2019)
Sequence version 1 (01 Oct 2002)
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Protein

Phosphatidylcholine:ceramide cholinephosphotransferase 2

Gene

SGMS2

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

Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity.2 Publications

Miscellaneous

Overexpression of the human protein in mouse causes increased non-HDL-sphingomyelin and non-HDL cholesterol levels, decreased HDL-sphingomyelin and HDL-cholesterol levels and increases lipoprotein atherogenic potential.

<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 regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by bacterial PC-phospholipase C inhibitor D609.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei2291 Publication1
Active sitei2721 Publication1
Active sitei2761 Publication1

<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 functionKinase, Transferase
Biological processLipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.8.27 2681

Reactome - a knowledgebase of biological pathways and processes

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

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000172

<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:
Phosphatidylcholine:ceramide cholinephosphotransferase 2 (EC:2.7.8.27)
Alternative name(s):
Sphingomyelin synthase 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:SGMS2
Synonyms:SMS2
<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)Imported
<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: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28395 SGMS2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611574 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NHU3

<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>Transmembranei80 – 100HelicalSequence analysisAdd BLAST21
Transmembranei128 – 148HelicalSequence analysisAdd BLAST21
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Transmembranei206 – 226HelicalSequence analysisAdd BLAST21
Transmembranei248 – 268HelicalSequence analysisAdd BLAST21
Transmembranei275 – 295HelicalSequence analysisAdd BLAST21
<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 domaini296 – 365CytoplasmicSequence analysisAdd BLAST70

Keywords - Cellular componenti

Cell membrane, Golgi apparatus, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi227S → A: Abolishes enzyme activity by about 70%. No change in subcellular location. 1 Publication1
Mutagenesisi229H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1
Mutagenesisi272H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1
Mutagenesisi276D → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1
Mutagenesisi331 – 332CC → AA: Little effect on palmitoylation; when associated with A-343 or A-348. Abolishes palmitoylation and dramatically reduces plasma membrane localization; when associated with A-343 and A-348. 1 Publication2
Mutagenesisi343C → A: Strongly decreases palmitoylation; when associated with A-348. Abolishes palmitoylation and dramatically reduces plasma membrane localization; when associated with 331-A-A-332 and A-348. 1 Publication1
Mutagenesisi348C → A: Strongly decreases palmitoylation; when associated with A-343. Abolishes palmitoylation and dramatically reduces plasma membrane localization; when associated with 331-A-A-332 and A-343. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
166929

Open Targets

More...
OpenTargetsi
ENSG00000164023

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162403069

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NHU3

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3112379

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2521

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SGMS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
44888519

<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_00002210721 – 365Phosphatidylcholine:ceramide cholinephosphotransferase 2Add BLAST365

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi331S-palmitoyl cysteine1 Publication1
Lipidationi332S-palmitoyl cysteine1 Publication1
Lipidationi343S-palmitoyl cysteine1 Publication1
Lipidationi348S-palmitoyl cysteine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Palmitoylated on Cys-331, Cys-332, Cys-343 and Cys-348; which plays an important role in plasma membrane localization.1 Publication

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NHU3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NHU3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NHU3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NHU3

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

More...
PaxDbi
Q8NHU3

PeptideAtlas

More...
PeptideAtlasi
Q8NHU3

PRoteomics IDEntifications database

More...
PRIDEi
Q8NHU3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73758

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NHU3

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

More...
PhosphoSitePlusi
Q8NHU3

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q8NHU3

<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

Brain, heart, kidney, liver, muscle and stomach. Also expressed in a number of cell lines such as carcinoma HeLa cells, hepatoma Hep-G2 cells, and colon carcinoma Caco-2 cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164023 Expressed in 180 organ(s), highest expression level in tibia

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NHU3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NHU3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA015076

<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
127938, 10 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NHU3, 12 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000378176

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q8NHU3

<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

Belongs to the sphingomyelin synthase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3058 Eukaryota
ENOG410XNSC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157370

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000233822

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NHU3

KEGG Orthology (KO)

More...
KOi
K04714

Identification of Orthologs from Complete Genome Data

More...
OMAi
WPISWPP

Database of Orthologous Groups

More...
OrthoDBi
599210at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NHU3

TreeFam database of animal gene trees

More...
TreeFami
TF314547

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR025749 Sphingomyelin_synth-like_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14360 PAP2_C, 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>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 3 potential isoforms that are computationally mapped.Show allAlign All

Q8NHU3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDIIETAKLE EHLENQPSDP TNTYARPAEP VEEENKNGNG KPKSLSSGLR
60 70 80 90 100
KGTKKYPDYI QIAMPTESRN KFPLEWWKTG IAFIYAVFNL VLTTVMITVV
110 120 130 140 150
HERVPPKELS PPLPDKFFDY IDRVKWAFSV SEINGIILVG LWITQWLFLR
160 170 180 190 200
YKSIVGRRFC FIIGTLYLYR CITMYVTTLP VPGMHFQCAP KLNGDSQAKV
210 220 230 240 250
QRILRLISGG GLSITGSHIL CGDFLFSGHT VTLTLTYLFI KEYSPRHFWW
260 270 280 290 300
YHLICWLLSA AGIICILVAH EHYTIDVIIA YYITTRLFWW YHSMANEKNL
310 320 330 340 350
KVSSQTNFLS RAWWFPIFYF FEKNVQGSIP CCFSWPLSWP PGCFKSSCKK
360
YSRVQKIGED NEKST
Length:365
Mass (Da):42,280
Last modified:October 1, 2002 - 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:i49B3560AFB87CF40
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
E5RGG5E5RGG5_HUMAN
Phosphatidylcholine:ceramide cholin...
SGMS2
44Annotation 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>
E5RJ63E5RJ63_HUMAN
Phosphatidylcholine:ceramide cholin...
SGMS2
34Annotation 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>
E5RJU3E5RJU3_HUMAN
Phosphatidylcholine:ceramide cholin...
SGMS2
125Annotation 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>

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 conflicti313W → R in BAF83033 (PubMed:14702039).Curated1

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_05202521T → M. Corresponds to variant dbSNP:rs17038204Ensembl.1

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
AF452717 mRNA Translation: AAP13352.1
AK290344 mRNA Translation: BAF83033.1
AK314049 mRNA Translation: BAG36758.1
CH471057 Genomic DNA Translation: EAX06211.1
BC028705 mRNA Translation: AAH28705.1
BC041369 mRNA Translation: AAH41369.1
AC096564 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3677.1

NCBI Reference Sequences

More...
RefSeqi
NP_001129729.1, NM_001136257.1
NP_001129730.1, NM_001136258.1
NP_689834.1, NM_152621.5
XP_011530000.1, XM_011531698.2
XP_011530001.1, XM_011531699.2
XP_011530002.1, XM_011531700.2
XP_011530003.1, XM_011531701.2
XP_011530004.1, XM_011531702.2
XP_016863328.1, XM_017007839.1
XP_016863329.1, XM_017007840.1

Genome annotation databases

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
166929

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:166929

UCSC genome browser

More...
UCSCi
uc003hyl.6 human

Keywords - Coding sequence diversityi

Polymorphism

<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
AF452717 mRNA Translation: AAP13352.1
AK290344 mRNA Translation: BAF83033.1
AK314049 mRNA Translation: BAG36758.1
CH471057 Genomic DNA Translation: EAX06211.1
BC028705 mRNA Translation: AAH28705.1
BC041369 mRNA Translation: AAH41369.1
AC096564 Genomic DNA No translation available.
CCDSiCCDS3677.1
RefSeqiNP_001129729.1, NM_001136257.1
NP_001129730.1, NM_001136258.1
NP_689834.1, NM_152621.5
XP_011530000.1, XM_011531698.2
XP_011530001.1, XM_011531699.2
XP_011530002.1, XM_011531700.2
XP_011530003.1, XM_011531701.2
XP_011530004.1, XM_011531702.2
XP_016863328.1, XM_017007839.1
XP_016863329.1, XM_017007840.1

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi127938, 10 interactors
IntActiQ8NHU3, 12 interactors
STRINGi9606.ENSP00000378176

Chemistry databases

BindingDBiQ8NHU3
ChEMBLiCHEMBL3112379
GuidetoPHARMACOLOGYi2521
SwissLipidsiSLP:000000172

PTM databases

iPTMnetiQ8NHU3
PhosphoSitePlusiQ8NHU3
SwissPalmiQ8NHU3

Polymorphism and mutation databases

BioMutaiSGMS2
DMDMi44888519

Proteomic databases

EPDiQ8NHU3
jPOSTiQ8NHU3
MassIVEiQ8NHU3
MaxQBiQ8NHU3
PaxDbiQ8NHU3
PeptideAtlasiQ8NHU3
PRIDEiQ8NHU3
ProteomicsDBi73758

Genome annotation databases

GeneIDi166929
KEGGihsa:166929
UCSCiuc003hyl.6 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
166929
DisGeNETi166929

GeneCards: human genes, protein and diseases

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GeneCardsi
SGMS2
HGNCiHGNC:28395 SGMS2
HPAiHPA015076
MIMi611574 gene
neXtProtiNX_Q8NHU3
OpenTargetsiENSG00000164023
PharmGKBiPA162403069

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3058 Eukaryota
ENOG410XNSC LUCA
GeneTreeiENSGT00940000157370
HOGENOMiHOG000233822
InParanoidiQ8NHU3
KOiK04714
OMAiWPISWPP
OrthoDBi599210at2759
PhylomeDBiQ8NHU3
TreeFamiTF314547

Enzyme and pathway databases

BRENDAi2.7.8.27 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
SGMS2 human

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

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GenomeRNAii
166929
PharosiQ8NHU3

Protein Ontology

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PROi
PR:Q8NHU3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000164023 Expressed in 180 organ(s), highest expression level in tibia
ExpressionAtlasiQ8NHU3 baseline and differential
GenevisibleiQ8NHU3 HS

Family and domain databases

InterProiView protein in InterPro
IPR025749 Sphingomyelin_synth-like_dom
PfamiView protein in Pfam
PF14360 PAP2_C, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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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 nameiSMS2_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: Q8NHU3
Secondary accession number(s): A8K2S9, B2RA61
<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: March 1, 2004
Last sequence update: October 1, 2002
Last modified: October 16, 2019
This is version 135 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. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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