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Entry version 147 (18 Sep 2019)
Sequence version 3 (28 Mar 2018)
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Protein

Phosphatidylcholine:ceramide cholinephosphotransferase 1

Gene

SGMS1

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. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide.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 sitei2851 Publication1
Active sitei3281 Publication1
Active sitei3321 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 processApoptosis, Lipid 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:000000171

<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 1 (EC:2.7.8.27)
Alternative name(s):
Medulla oblongata-derived protein
Short name:
Protein Mob
Sphingomyelin synthase 1
Transmembrane protein 23
<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:SGMS1
Synonyms:MOB, SMS1, TMEM23
<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:29799 SGMS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611573 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86VZ5

<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>Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Transmembranei184 – 204HelicalSequence analysisAdd BLAST21
Transmembranei215 – 235HelicalSequence analysisAdd BLAST21
Transmembranei276 – 296HelicalSequence analysisAdd BLAST21
Transmembranei304 – 324HelicalSequence 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 domaini325 – 413CytoplasmicSequence analysisAdd BLAST89

Keywords - Cellular componenti

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>Mutagenesisi283S → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1
Mutagenesisi285H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1
Mutagenesisi328H → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1
Mutagenesisi332D → A: Completely abolishes enzyme activity. No change in subcellular location. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
259230

Open Targets

More...
OpenTargetsi
ENSG00000198964

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162403042

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3611965

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2520

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SGMS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
44888473

<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_00002210681 – 413Phosphatidylcholine:ceramide cholinephosphotransferase 1Add BLAST413

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 residuei8PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q86VZ5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q86VZ5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q86VZ5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q86VZ5

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

More...
PaxDbi
Q86VZ5

PeptideAtlas

More...
PeptideAtlasi
Q86VZ5

PRoteomics IDEntifications database

More...
PRIDEi
Q86VZ5

ProteomicsDB human proteome resource

More...
ProteomicsDBi
12771
70096 [Q86VZ5-1]
70097 [Q86VZ5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86VZ5

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

More...
PhosphoSitePlusi
Q86VZ5

<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.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198964 Expressed in 222 organ(s), highest expression level in adrenal tissue

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86VZ5 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045191

<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
129227, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q86VZ5, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000354829

<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

More...
SMRi
Q86VZ5

Database of comparative protein structure models

More...
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini7 – 70SAMPROSITE-ProRule annotationCuratedAdd BLAST64

<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
ENSGT00940000158306

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000233822

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86VZ5

KEGG Orthology (KO)

More...
KOi
K04714

Identification of Orthologs from Complete Genome Data

More...
OMAi
WWYHWLC

Database of Orthologous Groups

More...
OrthoDBi
599210at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86VZ5

TreeFam database of animal gene trees

More...
TreeFami
TF314547

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.150.50, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR025749 Sphingomyelin_synth-like_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14360 PAP2_C, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47769 SSF47769, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50105 SAM_DOMAIN, 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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q86VZ5-1) [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
MKEVVYWSPK KVADWLLENA MPEYCEPLEH FTGQDLINLT QEDFKKPPLC
60 70 80 90 100
RVSSDNGQRL LDMIETLKME HHLEAHKNGH ANGHLNIGVD IPTPDGSFSI
110 120 130 140 150
KIKPNGMPNG YRKEMIKIPM PELERSQYPM EWGKTFLAFL YALSCFVLTT
160 170 180 190 200
VMISVVHERV PPKEVQPPLP DTFFDHFNRV QWAFSICEIN GMILVGLWLI
210 220 230 240 250
QWLLLKYKSI ISRRFFCIVG TLYLYRCITM YVTTLPVPGM HFNCSPKLFG
260 270 280 290 300
DWEAQLRRIM KLIAGGGLSI TGSHNMCGDY LYSGHTVMLT LTYLFIKEYS
310 320 330 340 350
PRRLWWYHWI CWLLSVVGIF CILLAHDHYT VDVVVAYYIT TRLFWWYHTM
360 370 380 390 400
ANQQVLKEAS QMNLLARVWW YRPFQYFEKN VQGIVPRSYH WPFPWPVVHL
410
SRQVKYSRLV NDT
Length:413
Mass (Da):48,617
Last modified:March 28, 2018 - 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:i6E79AED84F4BFD21
GO
Isoform 2 (identifier: Q86VZ5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-199: Missing.
     200-208: IQWLLLKYK → MTRMFLNNP

Show »
Length:214
Mass (Da):25,602
Checksum:i1683928AB57C2FB2
GO

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

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E6ZCI6E6ZCI6_HUMAN
Phosphatidylcholine:ceramide cholin...
SGMS1
219Annotation 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>
C0MHM2C0MHM2_HUMAN
Phosphatidylcholine:ceramide cholin...
SGMS1
241Annotation 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>
R4GNI5R4GNI5_HUMAN
Phosphatidylcholine:ceramide cholin...
SGMS1
35Annotation 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>
U3KQ11U3KQ11_HUMAN
Phosphatidylcholine:ceramide cholin...
SGMS1
12Annotation 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 conflicti162P → L in AAQ82051 (Ref. 3) Curated1

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_0272231 – 199Missing in isoform 2. 1 PublicationAdd BLAST199
Alternative sequenceiVSP_027224200 – 208IQWLLLKYK → MTRMFLNNP in isoform 2. 1 Publication9

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

More...
DDBJi
Links Updated
AB154421 mRNA Translation: BAD16809.1
AY280959 mRNA Translation: AAP37279.1
AY312431 mRNA Translation: AAQ82051.1
AK026683 mRNA No translation available.
CH471142 Genomic DNA Translation: EAW80430.1
CH471142 Genomic DNA Translation: EAW80429.1
CH471142 Genomic DNA Translation: EAW80431.1
CH471142 Genomic DNA Translation: EAW80432.1
AC069547 Genomic DNA No translation available.
AL117341 Genomic DNA No translation available.
AL596137 Genomic DNA No translation available.
BC042899 mRNA Translation: AAH42899.1
AY364088 mRNA Translation: AAR13294.1
AY332650 mRNA Translation: AAQ22363.1
BN000143 mRNA Translation: CAD79708.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7240.1 [Q86VZ5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_671512.1, NM_147156.3 [Q86VZ5-1]
XP_005269732.1, XM_005269675.1 [Q86VZ5-1]
XP_011537884.1, XM_011539582.2
XP_011537885.1, XM_011539583.2 [Q86VZ5-1]

Genome annotation databases

Database of genes from NCBI RefSeq genomes

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GeneIDi
259230

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:259230

UCSC genome browser

More...
UCSCi
uc001jje.4 human

Keywords - Coding sequence diversityi

Alternative splicing

<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
AB154421 mRNA Translation: BAD16809.1
AY280959 mRNA Translation: AAP37279.1
AY312431 mRNA Translation: AAQ82051.1
AK026683 mRNA No translation available.
CH471142 Genomic DNA Translation: EAW80430.1
CH471142 Genomic DNA Translation: EAW80429.1
CH471142 Genomic DNA Translation: EAW80431.1
CH471142 Genomic DNA Translation: EAW80432.1
AC069547 Genomic DNA No translation available.
AL117341 Genomic DNA No translation available.
AL596137 Genomic DNA No translation available.
BC042899 mRNA Translation: AAH42899.1
AY364088 mRNA Translation: AAR13294.1
AY332650 mRNA Translation: AAQ22363.1
BN000143 mRNA Translation: CAD79708.1
CCDSiCCDS7240.1 [Q86VZ5-1]
RefSeqiNP_671512.1, NM_147156.3 [Q86VZ5-1]
XP_005269732.1, XM_005269675.1 [Q86VZ5-1]
XP_011537884.1, XM_011539582.2
XP_011537885.1, XM_011539583.2 [Q86VZ5-1]

3D structure databases

SMRiQ86VZ5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi129227, 5 interactors
IntActiQ86VZ5, 1 interactor
STRINGi9606.ENSP00000354829

Chemistry databases

ChEMBLiCHEMBL3611965
GuidetoPHARMACOLOGYi2520
SwissLipidsiSLP:000000171

PTM databases

iPTMnetiQ86VZ5
PhosphoSitePlusiQ86VZ5

Polymorphism and mutation databases

BioMutaiSGMS1
DMDMi44888473

Proteomic databases

EPDiQ86VZ5
jPOSTiQ86VZ5
MassIVEiQ86VZ5
MaxQBiQ86VZ5
PaxDbiQ86VZ5
PeptideAtlasiQ86VZ5
PRIDEiQ86VZ5
ProteomicsDBi12771
70096 [Q86VZ5-1]
70097 [Q86VZ5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi259230
KEGGihsa:259230
UCSCiuc001jje.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
259230
DisGeNETi259230

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SGMS1
HGNCiHGNC:29799 SGMS1
HPAiHPA045191
MIMi611573 gene
neXtProtiNX_Q86VZ5
OpenTargetsiENSG00000198964
PharmGKBiPA162403042

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3058 Eukaryota
ENOG410XNSC LUCA
GeneTreeiENSGT00940000158306
HOGENOMiHOG000233822
InParanoidiQ86VZ5
KOiK04714
OMAiWWYHWLC
OrthoDBi599210at2759
PhylomeDBiQ86VZ5
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

More...
ChiTaRSi
SGMS1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SGMS1

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

More...
GenomeRNAii
259230

Pharos

More...
Pharosi
Q86VZ5

Protein Ontology

More...
PROi
PR:Q86VZ5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198964 Expressed in 222 organ(s), highest expression level in adrenal tissue
ExpressionAtlasiQ86VZ5 baseline and differential

Family and domain databases

Gene3Di1.10.150.50, 1 hit
InterProiView protein in InterPro
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR025749 Sphingomyelin_synth-like_dom
PfamiView protein in Pfam
PF14360 PAP2_C, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS50105 SAM_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiSMS1_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: Q86VZ5
Secondary accession number(s): D3DWC4
, Q68U43, Q6EKK0, Q75SP1
<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: March 28, 2018
Last modified: September 18, 2019
This is version 147 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 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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