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UniProtKB - Q92484 (ASM3A_HUMAN)

Entry version 148 (10 Feb 2021)
Sequence version 2 (15 Dec 2003)
Previous versions | rss
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Protein

Acid sphingomyelinase-like phosphodiesterase 3a

Gene

SMPDL3A

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

Has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP (PubMed:25288789, PubMed:26783088). Has in vitro activity with p-nitrophenyl-TMP (PubMed:25288789). Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates (PubMed:25288789, PubMed:26783088). Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine (PubMed:26783088). Does not have sphingomyelin phosphodiesterase activity (PubMed:25288789, PubMed:26783088).2 Publications

<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+1 PublicationNote: Binds 2 Zn2+ per subunit.1 Publication

<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

Requires micromolar levels of Zn2+ for activity (PubMed:26783088). Inhibited by millimolar levels of Zn2+ (PubMed:25288789, PubMed:26783088).2 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=326 µM for ATP1 Publication
  2. KM=306 µM for ADP1 Publication
  3. KM=348 µM for ADP-ribose1 Publication
  4. KM=390 µM for CDP-ethanolamine1 Publication
  5. KM=262 µM for CDP-choline1 Publication

    pH dependencei

    Optimum pH is 4-6.1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi45Zinc 11 Publication1
    Metal bindingi47Zinc 11 Publication1
    Metal bindingi110Zinc 11 Publication1
    Metal bindingi110Zinc 21 Publication1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei114Substrate1 Publication1
    Metal bindingi151Zinc 21 Publication1
    Binding sitei151Substrate1 Publication1
    Binding sitei152Substrate1 Publication1
    Metal bindingi252Zinc 21 Publication1
    Metal bindingi293Zinc 21 Publication1
    Metal bindingi295Zinc 11 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

    • phosphoric diester hydrolase activity Source: UniProtKB
    • zinc ion binding Source: UniProtKB
    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 functionHydrolase
    LigandMetal-binding, Zinc

    Enzyme and pathway databases

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		Q92484

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		Q92484

    <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:
    Acid sphingomyelinase-like phosphodiesterase 3a (EC:3.1.4.-2 Publications)
    Short name:
    ASM-like phosphodiesterase 3a
    <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:SMPDL3A
    Synonyms:ASML3A
    <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)
    <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 6

    Organism-specific databases

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:17389, SMPDL3A

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		610728, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q92484

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...    VEuPathDBi    		HostDB:ENSG00000172594.12

    <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

    Keywords - Cellular componenti

    Secreted

    <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

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		10924

    Open Targets

    More...    OpenTargetsi    		ENSG00000172594

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA134932128

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q92484, Tbio

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		SMPDL3A

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		39932730

    <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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
    <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_000000232823 – 453Acid sphingomyelinase-like phosphodiesterase 3aAdd BLAST431

    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 bondi62 ↔ 81Combined sources
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi69N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
    Glycosylationi131N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
    Glycosylationi222N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi238N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi263N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi356N-linked (GlcNAc...) asparagine2 Publications1
    Disulfide bondi420 ↔ 424Sequence analysis
    Disulfide bondi430 ↔ 443Combined sources
    Glycosylationi437N-linked (GlcNAc...) asparagineSequence analysis1

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

    N-glycosylated.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q92484

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q92484

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q92484

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q92484

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

    More...    PaxDbi    		Q92484

    PeptideAtlas

    More...    PeptideAtlasi    		Q92484

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q92484

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		6826
    75265 [Q92484-1]

    PTM databases

    GlyConnect protein glycosylation platform

    More...    GlyConnecti    		987, 3 N-Linked glycans (2 sites)

    GlyGen: Computational and Informatics Resources for Glycoscience

    More...    GlyGeni    		Q92484, 7 sites, 1 N-linked glycan (1 site)

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q92484

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

    More...    PhosphoSitePlusi    		Q92484

    <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

    Detected in blood serum. Detected in macrophages (at protein level).1 Publication

    <p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

    Up-regulated in macrophages in response to cholesterol accumulation. Up-regulated by cAMP.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000172594, Expressed in colonic mucosa and 234 other tissues

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q92484, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000172594, 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

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Monomer.

    1 Publication

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		116128, 1 interactor

    Protein interaction database and analysis system

    More...    IntActi    		Q92484, 2 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000357425

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		Q92484, 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

    Secondary structure

    1453
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...    SMRi    		Q92484

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the acid sphingomyelinase family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG3770, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00950000183182

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_014743_0_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q92484

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		VICDKTC

    Database of Orthologous Groups

    More...    OrthoDBi    		1142100at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q92484

    TreeFam database of animal gene trees

    More...    TreeFami    		TF313674

    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
    IPR017064, ASM-like_Pdiesterase_prd
    IPR041805, ASMase/PPN1_MPP
    IPR004843, Calcineurin-like_PHP_ApaH
    IPR029052, Metallo-depent_PP-like

    Pfam protein domain database

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

    PIRSF; a whole-protein classification database

    More...    PIRSFi    		PIRSF036767, ASM-like_PDE, 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.

    <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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
    Isoform 1 (identifier: Q92484-1) [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
    MALVRALVCC LLTAWHCRSG LGLPVAPAGG RNPPPAIGQF WHVTDLHLDP 
            60         70         80         90        100
    TYHITDDHTK VCASSKGANA SNPGPFGDVL CDSPYQLILS AFDFIKNSGQ 
           110        120        130        140        150
    EASFMIWTGD SPPHVPVPEL STDTVINVIT NMTTTIQSLF PNLQVFPALG 
           160        170        180        190        200
    NHDYWPQDQL PVVTSKVYNA VANLWKPWLD EEAISTLRKG GFYSQKVTTN 
           210        220        230        240        250
    PNLRIISLNT NLYYGPNIMT LNKTDPANQF EWLESTLNNS QQNKEKVYII 
           260        270        280        290        300
    AHVPVGYLPS SQNITAMREY YNEKLIDIFQ KYSDVIAGQF YGHTHRDSIM 
           310        320        330        340        350
    VLSDKKGSPV NSLFVAPAVT PVKSVLEKQT NNPGIRLFQY DPRDYKLLDM 
           360        370        380        390        400
    LQYYLNLTEA NLKGESIWKL EYILTQTYDI EDLQPESLYG LAKQFTILDS 
           410        420        430        440        450
    KQFIKYYNYF FVSYDSSVTC DKTCKAFQIC AIMNLDNISY ADCLKQLYIK 

    HNY
    Length:453
    Mass (Da):51,260
    Last modified:December 15, 2003 - v2
    <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:i2EFE762BF663984B
    GO
    Isoform 2 (identifier: Q92484-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-131: Missing.

    Show »
    Length:322
    Mass (Da):37,285
    Checksum:i46447C3855333A5F
    GO

    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 conflicti452N → K in CAA69330 (Ref. 5) 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_04833816H → Y. Corresponds to variant dbSNP:rs12523814Ensembl.1
    Natural variantiVAR_048339161P → S. Corresponds to variant dbSNP:rs28385609Ensembl.1

    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_0546401 – 131Missing in isoform 2. 1 PublicationAdd BLAST131

    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
    		AK301365 mRNA Translation: BAH13465.1
    AL732431 Genomic DNA No translation available.
    CH471051 Genomic DNA Translation: EAW48164.1
    BC018999 mRNA Translation: AAH18999.1
    Y08136 mRNA Translation: CAA69330.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS5128.1 [Q92484-1]
    CCDS69190.1 [Q92484-2]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_001273067.1, NM_001286138.1 [Q92484-2]
    NP_006705.1, NM_006714.4 [Q92484-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000368440; ENSP00000357425; ENSG00000172594 [Q92484-1]
    ENST00000539041; ENSP00000442152; ENSG00000172594 [Q92484-2]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		10924

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:10924

    UCSC genome browser

    More...    UCSCi    		uc003pzg.5, human [Q92484-1]

    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
    		AK301365 mRNA Translation: BAH13465.1
    AL732431 Genomic DNA No translation available.
    CH471051 Genomic DNA Translation: EAW48164.1
    BC018999 mRNA Translation: AAH18999.1
    Y08136 mRNA Translation: CAA69330.1
    CCDSiCCDS5128.1 [Q92484-1]
    CCDS69190.1 [Q92484-2]
    RefSeqiNP_001273067.1, NM_001286138.1 [Q92484-2]
    NP_006705.1, NM_006714.4 [Q92484-1]

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    5EBBX-ray2.60A/B/C34-443[»]
    5EBEX-ray3.00A33-450[»]
    B/C33-447[»]
    SMRiQ92484
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi116128, 1 interactor
    IntActiQ92484, 2 interactors
    STRINGi9606.ENSP00000357425

    PTM databases

    GlyConnecti987, 3 N-Linked glycans (2 sites)
    GlyGeniQ92484, 7 sites, 1 N-linked glycan (1 site)
    iPTMnetiQ92484
    PhosphoSitePlusiQ92484

    Genetic variation databases

    BioMutaiSMPDL3A
    DMDMi39932730

    Proteomic databases

    EPDiQ92484
    jPOSTiQ92484
    MassIVEiQ92484
    MaxQBiQ92484
    PaxDbiQ92484
    PeptideAtlasiQ92484
    PRIDEiQ92484
    ProteomicsDBi6826
    75265 [Q92484-1]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		32649, 131 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		10924

    Genome annotation databases

    EnsembliENST00000368440; ENSP00000357425; ENSG00000172594 [Q92484-1]
    ENST00000539041; ENSP00000442152; ENSG00000172594 [Q92484-2]
    GeneIDi10924
    KEGGihsa:10924
    UCSCiuc003pzg.5, human [Q92484-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		10924
    DisGeNETi10924

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		SMPDL3A
    HGNCiHGNC:17389, SMPDL3A
    HPAiENSG00000172594, Low tissue specificity
    MIMi610728, gene
    neXtProtiNX_Q92484
    OpenTargetsiENSG00000172594
    PharmGKBiPA134932128
    VEuPathDBiHostDB:ENSG00000172594.12

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG3770, Eukaryota
    GeneTreeiENSGT00950000183182
    HOGENOMiCLU_014743_0_0_1
    InParanoidiQ92484
    OMAiVICDKTC
    OrthoDBi1142100at2759
    PhylomeDBiQ92484
    TreeFamiTF313674

    Enzyme and pathway databases

    PathwayCommonsiQ92484
    SABIO-RKiQ92484

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		10924, 3 hits in 873 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...    ChiTaRSi    		SMPDL3A, human

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

    More...    GenomeRNAii    		10924
    PharosiQ92484, Tbio

    Protein Ontology

    More...    PROi    		PR:Q92484
    RNActiQ92484, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000172594, Expressed in colonic mucosa and 234 other tissues
    GenevisibleiQ92484, HS

    Family and domain databases

    CDDicd00842, MPP_ASMase, 1 hit
    Gene3Di3.60.21.10, 1 hit
    InterProiView protein in InterPro
    IPR017064, ASM-like_Pdiesterase_prd
    IPR041805, ASMase/PPN1_MPP
    IPR004843, Calcineurin-like_PHP_ApaH
    IPR029052, Metallo-depent_PP-like
    PfamiView protein in Pfam
    PF00149, Metallophos, 1 hit
    PIRSFiPIRSF036767, ASM-like_PDE, 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 nameiASM3A_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: Q92484
    Secondary accession number(s): B7Z729, Q8WV13
    <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: August 29, 2001
    Last sequence update: December 15, 2003
    Last modified: February 10, 2021
    This is version 148 of the entry and version 2 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

    3D-structure, Reference proteome

    Documents

    1. Human variants curated from literature reports
      Index of human variants curated from literature reports
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families
    5. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    6. Human entries with genetic variants
      List of human entries with genetic variants
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