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UniProtKB - Q9BZG2 (PPAT_HUMAN)

Entry version 126 (26 Feb 2020)
Sequence version 1 (01 Jun 2001)
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Protein

Testicular acid phosphatase

Gene

ACP4

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

May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672). May play a role in odontogenesis (PubMed:27843125).2 Publications

<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

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 sitei41NucleophileBy similarity1
Active sitei289Proton donorBy similarity1

<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 functionHydrolase

<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:
Testicular acid phosphataseCurated (EC:3.1.3.2)
Alternative name(s):
Acid phosphatase 4Imported
<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:ACP4Imported
Synonyms:ACPT1 PublicationImported
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14376 ACP4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606362 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BZG2

<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%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 domaini27 – 393ExtracellularSequence analysisAdd BLAST367
<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>Transmembranei394 – 414HelicalSequence analysisAdd BLAST21
Topological domaini415 – 426CytoplasmicSequence analysisAdd BLAST12

Keywords - Cellular componenti

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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Amelogenesis imperfecta 1J (AI1J)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin.
Related information in OMIM
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_07801476R → C in AI1J. 1 PublicationCorresponds to variants dbSNP:rs1057519277 and dbSNP:rs902112287EnsemblClinVarEnsembl.1
Natural variantiVAR_078015111R → C in AI1J. 1 PublicationCorresponds to variant dbSNP:rs202073531EnsemblClinVar.1
Natural variantiVAR_078016128A → P in AI1J; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767907487EnsemblClinVar.1
Natural variantiVAR_078017133E → K in AI1J; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779823931EnsemblClinVar.1
Natural variantiVAR_078018238S → L in AI1J. 1 PublicationCorresponds to variant dbSNP:rs763573828EnsemblClinVar.1

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		93650

MalaCards human disease database

More...MalaCardsi		ACP4
MIMi617297 phenotype

Open Targets

More...OpenTargetsi		ENSG00000142513

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		100031 Hypoplastic amelogenesis imperfecta

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24450

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BZG2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ACP4

Domain mapping of disease mutations (DMDM)

More...DMDMi		74717749

<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 – 26Sequence analysisAdd BLAST26
<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_000025964327 – 426Testicular acid phosphataseAdd BLAST400

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 bondi159 ↔ 378By similarity
<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>Glycosylationi191N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi214 ↔ 312By similarity
Glycosylationi269N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi330N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi339N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi353 ↔ 357By similarity

<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

Glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BZG2

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

More...PaxDbi		Q9BZG2

PeptideAtlas

More...PeptideAtlasi		Q9BZG2

PRoteomics IDEntifications database

More...PRIDEi		Q9BZG2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79839 [Q9BZG2-1]
79840 [Q9BZG2-2]
79841 [Q9BZG2-3]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9BZG2-2 [Q9BZG2-2]

PTM databases

DEPOD human dephosphorylation database

More...DEPODi		Q9BZG2

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BZG2

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

More...PhosphoSitePlusi		Q9BZG2

<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

Expressed mainly in the testis. Also expressed in the brain where they are enriched at the postsynaptic sites. Expressed at lower levels in the trachea, prostate, bone marrow, spinal cord, colon, fetal brain, heart, thymus, fetal liver, spleen, leukocytes, ovary, small intestine, pancreas and skeletal muscle. Expression is significantly lower in testicular cancer tissues than in normal testicular tissues. Isoform 3 is expressed in the testis, trachea, prostate and bone marrow.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 by mibolerone (a synthetic androgen) and dihydrotestosterone (DHT) and is down-regulated by estrogen and progestin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000142513 Expressed in amniotic fluid and 118 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BZG2 HS

<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

Homodimer.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000270593

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BZG2 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

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

More...SMRi		Q9BZG2

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

<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 histidine acid phosphatase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3720 Eukaryota
ENOG410ZVBQ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161433

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_030431_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BZG2

KEGG Orthology (KO)

More...KOi		K19284

Identification of Orthologs from Complete Genome Data

More...OMAi		ADWKPIP

Database of Orthologous Groups

More...OrthoDBi		1221585at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BZG2

TreeFam database of animal gene trees

More...TreeFami		TF312893

Family and domain databases

Conserved Domains Database

More...CDDi		cd07061 HP_HAP_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.1240, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR033379 Acid_Pase_AS
IPR000560 His_Pase_clade-2
IPR029033 His_PPase_superfam

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00328 His_Phos_2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53254 SSF53254, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00616 HIS_ACID_PHOSPHAT_1, 1 hit
PS00778 HIS_ACID_PHOSPHAT_2, 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 (3)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 3 <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
Isoform 1 (identifier: Q9BZG2-1) [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
MAGLGFWGHP AGPLLLLLLL VLPPRALPEG PLVFVALVFR HGDRAPLASY 
        60         70         80         90        100
PMDPHKEVAS TLWPRGLGQL TTEGVRQQLE LGRFLRSRYE AFLSPEYRRE 
       110        120        130        140        150
EVYIRSTDFD RTLESAQANL AGLFPEAAPG SPEARWRPIP VHTVPVAEDK 
       160        170        180        190        200
LLRFPMRSCP RYHELLREAT EAAEYQEALE GWTGFLSRLE NFTGLSLVGE 
       210        220        230        240        250
PLRRAWKVLD TLMCQQAHGL PLPAWASPDV LRTLAQISAL DIGAHVGPPR 
       260        270        280        290        300
AAEKAQLTGG ILLNAILANF SRVQRLGLPL KMVMYSAHDS TLLALQGALG 
       310        320        330        340        350
LYDGHTPPYA ACLGFEFRKH LGNPAKDGGN VTVSLFYRND SAHLPLPLSL 
       360        370        380        390        400
PGCPAPCPLG RFYQLTAPAR PPAHGVSCHG PYEAAIPPAP VVPLLAGAVA 
       410        420 
VLVALSLGLG LLAWRPGCLR ALGGPV
Length:426
Mass (Da):46,090
Last modified:June 1, 2001 - 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:iBE930398041DB061
GO
Isoform 2 (identifier: Q9BZG2-2) [UniParc]FASTAAdd to basket
Also known as: Variant 3

The sequence of this isoform differs from the canonical sequence as follows:
     91-183: Missing.

Show »
Length:333
Mass (Da):35,403
Checksum:i0C0237096567B30F
GO
Isoform 3 (identifier: Q9BZG2-3) [UniParc]FASTAAdd to basket
Also known as: Truncated variant 1, Truncated variant 2

The sequence of this isoform differs from the canonical sequence as follows:
     39-92: FRHGDRAPLA...RFLRSRYEAF → RRPHPGLPLA...PPCGHEAWAS
     93-426: Missing.

Show »
Length:92
Mass (Da):9,912
Checksum:iDF4B45C6D2009A31
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07801476R → C in AI1J. 1 PublicationCorresponds to variants dbSNP:rs1057519277 and dbSNP:rs902112287EnsemblClinVarEnsembl.1
Natural variantiVAR_078015111R → C in AI1J. 1 PublicationCorresponds to variant dbSNP:rs202073531EnsemblClinVar.1
Natural variantiVAR_078016128A → P in AI1J; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767907487EnsemblClinVar.1
Natural variantiVAR_078017133E → K in AI1J; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779823931EnsemblClinVar.1
Natural variantiVAR_078018238S → L in AI1J. 1 PublicationCorresponds to variant dbSNP:rs763573828EnsemblClinVar.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_02149339 – 92FRHGD…RYEAF → RRPHPGLPLAPPGLALTSPV PRYSAMATGPRWPPTPWTHT RRWPPPCGHEAWAS in isoform 3. CuratedAdd BLAST54
Alternative sequenceiVSP_02149491 – 183Missing in isoform 2. CuratedAdd BLAST93
Alternative sequenceiVSP_02149593 – 426Missing in isoform 3. CuratedAdd BLAST334

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
AF321918 Genomic DNA Translation: AAK09393.1
AF321918 Genomic DNA Translation: AAK09394.1
AF321918 Genomic DNA Translation: AAK09395.1
AF321918 Genomic DNA Translation: AAK09396.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12802.1 [Q9BZG2-1]

NCBI Reference Sequences

More...RefSeqi		NP_149059.1, NM_033068.2 [Q9BZG2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000270593; ENSP00000270593; ENSG00000142513 [Q9BZG2-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		93650

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:93650

UCSC genome browser

More...UCSCi		uc002pta.1 human [Q9BZG2-1]

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
AF321918 Genomic DNA Translation: AAK09393.1
AF321918 Genomic DNA Translation: AAK09394.1
AF321918 Genomic DNA Translation: AAK09395.1
AF321918 Genomic DNA Translation: AAK09396.1
CCDSiCCDS12802.1 [Q9BZG2-1]
RefSeqiNP_149059.1, NM_033068.2 [Q9BZG2-1]

3D structure databases

SMRiQ9BZG2
ModBaseiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000270593

PTM databases

DEPODiQ9BZG2
iPTMnetiQ9BZG2
PhosphoSitePlusiQ9BZG2

Polymorphism and mutation databases

BioMutaiACP4
DMDMi74717749

Proteomic databases

jPOSTiQ9BZG2
PaxDbiQ9BZG2
PeptideAtlasiQ9BZG2
PRIDEiQ9BZG2
ProteomicsDBi79839 [Q9BZG2-1]
79840 [Q9BZG2-2]
79841 [Q9BZG2-3]
TopDownProteomicsiQ9BZG2-2 [Q9BZG2-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		93650

Genome annotation databases

EnsembliENST00000270593; ENSP00000270593; ENSG00000142513 [Q9BZG2-1]
GeneIDi93650
KEGGihsa:93650
UCSCiuc002pta.1 human [Q9BZG2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		93650
DisGeNETi93650

GeneCards: human genes, protein and diseases

More...GeneCardsi		ACP4
HGNCiHGNC:14376 ACP4
MalaCardsiACP4
MIMi606362 gene
617297 phenotype
neXtProtiNX_Q9BZG2
OpenTargetsiENSG00000142513
Orphaneti100031 Hypoplastic amelogenesis imperfecta
PharmGKBiPA24450

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3720 Eukaryota
ENOG410ZVBQ LUCA
GeneTreeiENSGT00940000161433
HOGENOMiCLU_030431_1_1_1
InParanoidiQ9BZG2
KOiK19284
OMAiADWKPIP
OrthoDBi1221585at2759
PhylomeDBiQ9BZG2
TreeFamiTF312893

Miscellaneous databases

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

More...GenomeRNAii		93650
PharosiQ9BZG2 Tbio

Protein Ontology

More...PROi		PR:Q9BZG2
RNActiQ9BZG2 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000142513 Expressed in amniotic fluid and 118 other tissues
GenevisibleiQ9BZG2 HS

Family and domain databases

CDDicd07061 HP_HAP_like, 1 hit
Gene3Di3.40.50.1240, 1 hit
InterProiView protein in InterPro
IPR033379 Acid_Pase_AS
IPR000560 His_Pase_clade-2
IPR029033 His_PPase_superfam
PfamiView protein in Pfam
PF00328 His_Phos_2, 1 hit
SUPFAMiSSF53254 SSF53254, 1 hit
PROSITEiView protein in PROSITE
PS00616 HIS_ACID_PHOSPHAT_1, 1 hit
PS00778 HIS_ACID_PHOSPHAT_2, 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 nameiPPAT_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: Q9BZG2
Secondary accession number(s): C0H3P7, Q9BZG3, Q9BZG4
<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: October 31, 2006
Last sequence update: June 1, 2001
Last modified: February 26, 2020
This is version 126 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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