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UniProtKB - Q86VZ5 (SMS1_HUMAN)

Entry version 162 (25 May 2022)
Sequence version 3 (28 Mar 2018)
Previous versions | rss
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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

Major sphingomyelin synthase at the Golgi apparatus (PubMed:17449912, PubMed:14685263).

Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phosphocholine head group of phosphatidylcholine (PC) on to ceramide (CER) to form ceramide phosphocholine (sphingomyelin, SM) and diacylglycerol (DAG) as by-product, and in the reverse reaction transfers phosphocholine from SM to DAG to form PC and CER. The direction of the reaction depends on the levels of CER and DAG in Golgi membranes (PubMed:14685263, PubMed:17449912, PubMed:14976195, PubMed:17982138, PubMed:19454763).

Does not use free phosphorylcholine or CDP-choline as donor (PubMed:14976195, PubMed:14685263).

Regulates receptor-mediated signal transduction via mitogenic DAG and proapoptotic CER, as well as via SM, a structural component of membrane rafts that serve as platforms for signal transduction and protein sorting (PubMed:14976195, PubMed:17449912, PubMed:17982138).

Plays a role in secretory transport via regulation of DAG pool at the Golgi apparatus and its downstream effects on PRKD1 (PubMed:18370930, PubMed:21980337).

7 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 the atherogenic potential of non-HDL lipoprotein particles.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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%5Fsection">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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'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 Sphingolipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in Sphingolipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q86VZ5

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q86VZ5

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%5Fand%5Ftaxonomy%5Fsection">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:2.7.8.275 Publications)
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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 10

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000198964

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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%5Fand%5Fbiotech%5Fsection">'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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q86VZ5, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3611965

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2520

Genetic variation 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 or proteolytic cleavage.<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: a multi-organism 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 adrenal tissue and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q86VZ5, baseline and differential

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000198964, Low tissue specificity

<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, 15 interactors

Protein interaction database and analysis system

More...IntActi		Q86VZ5, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000354829

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q86VZ5, protein

<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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q86VZ5

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%5Fand%5Fdomains%5Fsection">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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158306

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q86VZ5

Identification of Orthologs from Complete Genome Data

More...OMAi		WICWTLS

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
IPR045221, Sphingomyelin_synth-like
IPR025749, Sphingomyelin_synth-like_dom

The PANTHER Classification System

More...PANTHERi		PTHR21290, PTHR21290, 1 hit

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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 <p><strong>What is the canonical sequence?</strong><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

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000361781.7; ENSP00000354829.2; ENSG00000198964.14

Database of genes from NCBI RefSeq genomes

More...GeneIDi		259230

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:259230

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000361781.7; ENSP00000354829.2; NM_147156.4; NP_671512.1

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

AlphaFoldDBiQ86VZ5
SMRiQ86VZ5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi129227, 15 interactors
IntActiQ86VZ5, 2 interactors
STRINGi9606.ENSP00000354829

Chemistry databases

ChEMBLiCHEMBL3611965
GuidetoPHARMACOLOGYi2520
SwissLipidsiSLP:000000171

PTM databases

iPTMnetiQ86VZ5
PhosphoSitePlusiQ86VZ5

Genetic variation databases

BioMutaiSGMS1
DMDMi44888473

Proteomic databases

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

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27870, 201 antibodies from 25 providers

The DNASU plasmid repository

More...DNASUi		259230

Genome annotation databases

EnsembliENST00000361781.7; ENSP00000354829.2; ENSG00000198964.14
GeneIDi259230
KEGGihsa:259230
MANE-SelectiENST00000361781.7; ENSP00000354829.2; NM_147156.4; NP_671512.1
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
HPAiENSG00000198964, Low tissue specificity
MIMi611573, gene
neXtProtiNX_Q86VZ5
OpenTargetsiENSG00000198964
PharmGKBiPA162403042
VEuPathDBiHostDB:ENSG00000198964

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3058, Eukaryota
GeneTreeiENSGT00940000158306
InParanoidiQ86VZ5
OMAiWICWTLS
OrthoDBi599210at2759
PhylomeDBiQ86VZ5
TreeFamiTF314547

Enzyme and pathway databases

BRENDAi2.7.8.27, 2681
PathwayCommonsiQ86VZ5
ReactomeiR-HSA-1660661, Sphingolipid de novo biosynthesis
SignaLinkiQ86VZ5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		259230, 30 hits in 1078 CRISPR screens

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
PharosiQ86VZ5, Tchem

Protein Ontology

More...PROi		PR:Q86VZ5
RNActiQ86VZ5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000198964, Expressed in adrenal tissue and 238 other tissues
ExpressionAtlasiQ86VZ5, baseline and differential

Family and domain databases

Gene3Di1.10.150.50, 1 hit
InterProiView protein in InterPro
IPR001660, SAM
IPR013761, SAM/pointed_sf
IPR045221, Sphingomyelin_synth-like
IPR025749, Sphingomyelin_synth-like_dom
PANTHERiPTHR21290, PTHR21290, 1 hit
PfamiView protein in Pfam
PF14360, PAP2_C, 1 hit
SUPFAMiSSF47769, SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS50105, SAM_DOMAIN, 1 hit

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%5Fand%5Fisoforms">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: May 25, 2022
This is version 162 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

Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families
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