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UniProtKB - Q59EN6 (Q59EN6_HUMAN)

Entry version 85 (11 Dec 2019)
Sequence version 1 (26 Apr 2005)
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Protein
Submitted name:

Sphingomyelin phosphodiesterase 1, acid lysosomal isoform 1 variant

Gene
N/A
Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at transcript 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

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

Zn2+UniRule annotationNote: Binds 2 Zn2+ ions per subunit.UniRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi241Zinc 1UniRule annotation1
Metal bindingi243Zinc 1; via tele nitrogenUniRule annotation1
Metal bindingi313Zinc 1UniRule annotation1
Metal bindingi313Zinc 2UniRule annotation1
Metal bindingi353Zinc 2UniRule annotation1
Metal bindingi460Zinc 2; via tele nitrogenUniRule annotation1
Metal bindingi492Zinc 2; via pros nitrogenUniRule annotation1
Metal bindingi494Zinc 1; via tele nitrogenUniRule annotation1

<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

LigandMetal-bindingUniRule annotation, ZincUniRule annotation

<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
Submitted name:
Sphingomyelin phosphodiesterase 1, acid lysosomal isoform 1 variantImported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

<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_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>Transmembranei63 – 82HelicalSequence analysisAdd BLAST20

Keywords - Cellular componenti

Membrane

<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

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi124 ↔ 200UniRule annotation
Disulfide bondi127 ↔ 192UniRule annotation
Disulfide bondi155 ↔ 166UniRule annotation
Disulfide bondi256 ↔ 261UniRule annotation
Disulfide bondi262 ↔ 285UniRule annotation
Disulfide bondi420 ↔ 466UniRule annotation
Disulfide bondi619 ↔ 623UniRule annotation
Disulfide bondi629 ↔ 642UniRule annotation

Keywords - PTMi

Disulfide bondUniRule annotation

Proteomic databases

PeptideAtlas

More...PeptideAtlasi		Q59EN6

<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

Gene expression databases

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q59EN6 HS

<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		Q59EN6

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>Domaini120 – 204Saposin B-typeInterPro annotationAdd BLAST85

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 34DisorderedSequence analysisAdd BLAST34

Keywords - Domaini

Transmembrane, Transmembrane helixSequence analysis

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3770 Eukaryota
ENOG410YYPB LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000008599

KEGG Orthology (KO)

More...KOi		K12350

Database of Orthologous Groups

More...OrthoDBi		1142100at2759

Family and domain databases

Conserved Domains Database

More...CDDi		cd00842 MPP_ASMase, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.60.21.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR041805 ASMase/PPN1_MPP
IPR004843 Calcineurin-like_PHP_ApaH
IPR029052 Metallo-depent_PP-like
IPR011001 Saposin-like
IPR008139 SaposinB_dom
IPR011160 Sphingomy_PDE

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00149 Metallophos, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000948 Sphingomy_PDE, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00741 SapB, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47862 SSF47862, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50015 SAP_B, 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>Sequencei

<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: Fragment.

Q59EN6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
SGVPGAARGP EGWLGSRPGG TGQTNQPRVG SATMPRYGAS LRQSCPRSGR 
        60         70         80         90        100
EQGQDGTAGA PGLLWMGLAL ALALALALAL ALSDSRVLWA PAEAHPLSPQ 
       110        120        130        140        150
GHPARLHRIV PRLRDVFGWG NLTCPICKGL FTAINLGLKK EPNVARVGSV 
       160        170        180        190        200
AIKLCNLLKI APPAVCQSIV HLFEDDMVEV WRRSVLSPSE ACGLLLGSTC 
       210        220        230        240        250
GHWDIFSSWN ISLPTVPKPP PKPPSPPAPG APVSRILFLT DLHWDHDYLE 
       260        270        280        290        300
GTDPDCADPL CCRRGSGLPP ASRPGAGYWG EYSKCDLPLR TLESLLSGLG 
       310        320        330        340        350
PAGPFDMVYW TGDIPAHDVW HQTRQDQLRA LTTVTALVRK FLGPVPVYPA 
       360        370        380        390        400
VGNHESTPVN SFPPPFIEGN HSSRWLYEAM AKAWEPWLPA EALRTLRIGG 
       410        420        430        440        450
FYALSPYPGL RLISLNMNFC SRENFWLLIN STDPAGQLQW LVGELQAAED 
       460        470        480        490        500
RGDKVHIIGH IPPGHCLKSW SWNYYRIVAR YENTLAAQFF GHTHVDEFEV 
       510        520        530        540        550
FYDEETLSRP LAVAFLAPSA TTYIGLNPGY RVYQIDGNYS GSSHVVLDHE 
       560        570        580        590        600
TYILNLTQAN IPGAIPHWQL LYRARETYGL PNTLPTAWHN LVYRMRGDMQ 
       610        620        630        640        650
LFQTFWFLYH KGHPPSEPCG TPCRLATLCA QLSARADSPA LCRHLMPDGS 
       660 
LPEAQSLWPR PLFC
Length:664
Mass (Da):73,054
Last modified:April 26, 2005 - 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:iB361244D57C8B24D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section is used for sequence fragments to indicate that the residue at the extremity of the sequence is not the actual terminal residue in the complete protein sequence.<p><a href='/help/non_ter' target='_top'>More...</a></p>Non-terminal residuei1Imported1

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
AB209775 mRNA Translation: BAD93012.1

NCBI Reference Sequences

More...RefSeqi		NP_000534.3, NM_000543.4
NP_001007594.2, NM_001007593.2
NP_001305017.1, NM_001318088.1

Genome annotation databases

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6609

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6609

<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
AB209775 mRNA Translation: BAD93012.1
RefSeqiNP_000534.3, NM_000543.4
NP_001007594.2, NM_001007593.2
NP_001305017.1, NM_001318088.1

3D structure databases

SMRiQ59EN6
ModBaseiSearch...

Proteomic databases

PeptideAtlasiQ59EN6

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		6609

Genome annotation databases

GeneIDi6609
KEGGihsa:6609

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6609

Phylogenomic databases

eggNOGiKOG3770 Eukaryota
ENOG410YYPB LUCA
HOGENOMiHOG000008599
KOiK12350
OrthoDBi1142100at2759

Miscellaneous databases

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

More...GenomeRNAii		6609

Gene expression databases

GenevisibleiQ59EN6 HS

Family and domain databases

CDDicd00842 MPP_ASMase, 1 hit
Gene3Di3.60.21.10, 1 hit
InterProiView protein in InterPro
IPR041805 ASMase/PPN1_MPP
IPR004843 Calcineurin-like_PHP_ApaH
IPR029052 Metallo-depent_PP-like
IPR011001 Saposin-like
IPR008139 SaposinB_dom
IPR011160 Sphingomy_PDE
PfamiView protein in Pfam
PF00149 Metallophos, 1 hit
PIRSFiPIRSF000948 Sphingomy_PDE, 1 hit
SMARTiView protein in SMART
SM00741 SapB, 1 hit
SUPFAMiSSF47862 SSF47862, 1 hit
PROSITEiView protein in PROSITE
PS50015 SAP_B, 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 nameiQ59EN6_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: Q59EN6
<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/TrEMBL: April 26, 2005
Last sequence update: April 26, 2005
Last modified: December 11, 2019
This is version 85 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 statusiUnreviewed (UniProtKB/TrEMBL)
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.
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