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Protein

Porphobilinogen deaminase

Gene

HMBS

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

Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.

Miscellaneous

The porphobilinogen subunits are added to the dipyrromethane group.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘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

dipyrromethaneNote: Binds 1 dipyrromethane group covalently.

<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=48 µM for porphobilinogen1 Publication
  1. Vmax=1261 nmol/h/mg enzyme (at 37 degrees Celsius)1 Publication

Temperature dependencei

Displays high thermal stability. The half-denaturation temperature (Tm) is about 74 degrees Celsius.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protoporphyrin-IX biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes coproporphyrinogen-III from 5-aminolevulinate.
Proteins known to be involved in the 4 steps of the subpathway in this organism are:
  1. Delta-aminolevulinic acid dehydratase (ALAD)
  2. Porphobilinogen deaminase (HMBS)
  3. Uroporphyrinogen-III synthase (UROS)
  4. Uroporphyrinogen decarboxylase (UROD), Uroporphyrinogen decarboxylase (UROD)
This subpathway is part of the pathway protoporphyrin-IX biosynthesis, which is itself part of Porphyrin-containing compound metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes coproporphyrinogen-III from 5-aminolevulinate, the pathway protoporphyrin-IX biosynthesis and in Porphyrin-containing compound metabolism.

<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

  • hydroxymethylbilane synthase activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processHeme biosynthesis, Porphyrin biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS07607-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.5.1.61 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-189451 Heme biosynthesis

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P08397

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00251;UER00319

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Porphobilinogen deaminase (EC:2.5.1.61)
Short name:
PBG-D
Alternative name(s):
Hydroxymethylbilane synthase
Short name:
HMBS
Pre-uroporphyrinogen synthase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HMBS
Synonyms:PBGD, UPS
<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)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000256269.6

Human Gene Nomenclature Database

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HGNCi
HGNC:4982 HMBS

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609806 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P08397

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<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

Acute intermittent porphyria (AIP)43 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
See also OMIM:176000
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_02555818M → I in AIP. 1 Publication1
Natural variantiVAR_00363822R → C in AIP. 2 PublicationsCorresponds to variant dbSNP:rs189159450Ensembl.1
Natural variantiVAR_01100124G → S in AIP. 1
Natural variantiVAR_01100226R → C in AIP; less than 1% of wild-type deaminase activity. 4 PublicationsCorresponds to variant dbSNP:rs998842815Ensembl.1
Natural variantiVAR_00363926R → H in AIP; severe decrease in deaminase activity. 6 PublicationsCorresponds to variant dbSNP:rs118204103EnsemblClinVar.1
Natural variantiVAR_01100328S → N in AIP. 1
Natural variantiVAR_01100431A → P in AIP. 1 Publication1
Natural variantiVAR_00364031A → T in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204104EnsemblClinVar.1
Natural variantiVAR_07415132R → P in AIP; results in less than 1% of wild-type deaminase activity. 1 Publication1
Natural variantiVAR_00364134Q → K in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204105EnsemblClinVar.1
Natural variantiVAR_01100534Q → P in AIP; less than 3% of activity. 1 Publication1
Natural variantiVAR_02555934Q → R in AIP. 1 Publication1
Natural variantiVAR_01100635T → M in AIP. 1 PublicationCorresponds to variant dbSNP:rs974712040EnsemblClinVar.1
Natural variantiVAR_01100742L → S in AIP. 1 Publication1
Natural variantiVAR_00364255A → S in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204106EnsemblClinVar.1
Natural variantiVAR_07415259T → I in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 1 PublicationCorresponds to variant dbSNP:rs761004837Ensembl.1
Natural variantiVAR_01100861D → N in AIP. 1 Publication1
Natural variantiVAR_02556061D → Y in AIP. 1 Publication1
Natural variantiVAR_02556178T → P in AIP. 1 Publication1
Natural variantiVAR_02556280E → G in AIP. 1 Publication1
Natural variantiVAR_02556381L → P in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204119EnsemblClinVar.1
Natural variantiVAR_01100985L → R in AIP. 1 Publication1
Natural variantiVAR_02556486E → V in AIP. 1 PublicationCorresponds to variant dbSNP:rs150763621EnsemblClinVar.1
Natural variantiVAR_01101090V → G in AIP. 1 Publication1
Natural variantiVAR_02556592L → P in AIP. 1 Publication1
Natural variantiVAR_00364393V → F in AIP; loss of activity. 1 Publication1
Natural variantiVAR_02556693Missing in AIP. 1 Publication1
Natural variantiVAR_02556796S → F in AIP. 1 Publication1
Natural variantiVAR_00364498K → R in AIP. 1
Natural variantiVAR_02556899D → G in AIP; complete loss of deaminase activity. 2 Publications1
Natural variantiVAR_02556999D → H in AIP. 1 Publication1
Natural variantiVAR_02557099D → N in AIP. 1 Publication1
Natural variantiVAR_003645111G → R in AIP. 10 PublicationsCorresponds to variant dbSNP:rs118204107EnsemblClinVar.1
Natural variantiVAR_025571113I → T in AIP. 1 Publication1
Natural variantiVAR_003646116R → Q in AIP. 1 PublicationCorresponds to variant dbSNP:rs1165046276Ensembl.1
Natural variantiVAR_003647116R → W in AIP; loss of activity; affects protein conformation; lower thermal stability than wild-type enzyme. 5 PublicationsCorresponds to variant dbSNP:rs118204094EnsemblClinVar.1
Natural variantiVAR_003648119P → L in AIP. 2 Publications1
Natural variantiVAR_025572122A → G in AIP. 1 Publication1
Natural variantiVAR_011011124V → D in AIP. 1
Natural variantiVAR_003649149R → L in AIP. 1 Publication1
Natural variantiVAR_003650149R → Q in AIP; loss of deaminase activity. 2 PublicationsCorresponds to variant dbSNP:rs118204098EnsemblClinVar.1
Natural variantiVAR_009223152Missing in AIP. 1 Publication1
Natural variantiVAR_003651167R → Q in AIP; decreased deaminase activity due to defective enzyme-intermediate complexes turnover and regeneration of free enzyme molecules. 4 PublicationsCorresponds to variant dbSNP:rs118204095EnsemblClinVar.1
Natural variantiVAR_003652167R → W in AIP; results in less than 5% of wild-type activity; 2-fold decrease of Vmax; 33-fold increase of KM. 5 PublicationsCorresponds to variant dbSNP:rs118204101EnsemblClinVar.1
Natural variantiVAR_003653173R → Q in AIP; less than 1% of wild-type activity. 8 PublicationsCorresponds to variant dbSNP:rs118204096EnsemblClinVar.1
Natural variantiVAR_003654173R → W in AIP; 1% of wild-type activity; lower thermal stability than wild-type enzyme. 8 PublicationsCorresponds to variant dbSNP:rs575222284Ensembl.1
Natural variantiVAR_003655177L → R in AIP. 3 PublicationsCorresponds to variant dbSNP:rs118204108EnsemblClinVar.1
Natural variantiVAR_011012178D → N in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 2 PublicationsCorresponds to variant dbSNP:rs536814318EnsemblClinVar.1
Natural variantiVAR_003656195R → C in AIP; severe decrease of deaminase activity. 2 PublicationsCorresponds to variant dbSNP:rs34413634EnsemblClinVar.1
Natural variantiVAR_003657201R → W in AIP; residual activity. 4 PublicationsCorresponds to variant dbSNP:rs118204109EnsemblClinVar.1
Natural variantiVAR_011013202V → L in AIP. 1 PublicationCorresponds to variant dbSNP:rs914335144Ensembl.1
Natural variantiVAR_074153204Q → K in AIP; 46% wild-type deaminase activity; decreased enzyme stability. 1 Publication1
Natural variantiVAR_011014209E → K in AIP. Corresponds to variant dbSNP:rs1007859875Ensembl.1
Natural variantiVAR_025573212M → V in AIP; <2% residual activity. 1 PublicationCorresponds to variant dbSNP:rs772471000Ensembl.1
Natural variantiVAR_073715215V → E in AIP; unknown pathological significance; results in 30% of wild-type activity; 3-fold decrease of Vmax; normal KM; affects protein conformation. 2 PublicationsCorresponds to variant dbSNP:rs1205219549Ensembl.1
Natural variantiVAR_074154215V → M in AIP; 19% of wild-type deaminase activity. 1 Publication1
Natural variantiVAR_011015216G → D in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204116EnsemblClinVar.1
Natural variantiVAR_011016217Q → H in AIP. 1
Natural variantiVAR_011017217Q → L in AIP. 1 Publication1
Natural variantiVAR_011018219A → D in AIP. 1 Publication1
Natural variantiVAR_003658222V → M in AIP. 1 PublicationCorresponds to variant dbSNP:rs1261947877Ensembl.1
Natural variantiVAR_003659223E → K in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204110EnsemblClinVar.1
Natural variantiVAR_003660225R → G in AIP. 1 Publication1
Natural variantiVAR_025574225R → Q in AIP. 1 PublicationCorresponds to variant dbSNP:rs142459647EnsemblClinVar.1
Natural variantiVAR_025575236G → S in AIP. 1 Publication1
Natural variantiVAR_073716238L → P in AIP; unknown pathological significance. 1 Publication1
Natural variantiVAR_003661238L → R in AIP. 1
Natural variantiVAR_025576244L → P in AIP. 1 Publication1
Natural variantiVAR_003662245L → R in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204099EnsemblClinVar.1
Natural variantiVAR_003663247C → F in AIP; residual activity. 1 Publication1
Natural variantiVAR_003664247C → R in AIP; severe decrease of deaminase activity. 3 PublicationsCorresponds to variant dbSNP:rs118204111EnsemblClinVar.1
Natural variantiVAR_011019248I → IETLLRCI in AIP. 1
Natural variantiVAR_003665250E → A in AIP; severe decrease of deaminase activity. 2 Publications1
Natural variantiVAR_074155250E → D in AIP; less than 1% of wild-type deaminase activity. 1 Publication1
Natural variantiVAR_003666250E → K in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204112EnsemblClinVar.1
Natural variantiVAR_011020250E → Q in AIP. 1
Natural variantiVAR_011021250E → V in AIP. 1
Natural variantiVAR_003667252A → T in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204113EnsemblClinVar.1
Natural variantiVAR_003668252A → V in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204114EnsemblClinVar.1
Natural variantiVAR_025577254L → P in AIP. 1 Publication1
Natural variantiVAR_003669256H → N in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204115EnsemblClinVar.1
Natural variantiVAR_011022256H → Y in AIP. 1 Publication1
Natural variantiVAR_025578260G → D in AIP. 1 PublicationCorresponds to variant dbSNP:rs990831395Ensembl.1
Natural variantiVAR_025579261C → Y in AIP. 1 PublicationCorresponds to variant dbSNP:rs1334178100Ensembl.1
Natural variantiVAR_011023267V → M in AIP. Corresponds to variant dbSNP:rs1057521126Ensembl.1
Natural variantiVAR_003670269T → I in AIP. 2 Publications1
Natural variantiVAR_011024270A → D in AIP. 1
Natural variantiVAR_011025270A → G in AIP. 1 Publication1
Natural variantiVAR_003671274G → R in AIP. 1 Publication1
Natural variantiVAR_003672278L → P in AIP. 1 Publication1
Natural variantiVAR_003673280G → R in AIP. 1
Natural variantiVAR_011026281Missing in AIP. 1 Publication1
Natural variantiVAR_011027329 – 332Missing in AIP. 1 Publication4
Natural variantiVAR_074156330A → P in AIP. 1 Publication1
Natural variantiVAR_011028335G → D in AIP. 1 Publication1
Natural variantiVAR_011029335G → S in AIP; less than 3% of activity. 1 Publication1
Natural variantiVAR_074157338L → P in AIP. 1 Publication1
Natural variantiVAR_025580343L → P in AIP. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3145

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
HMBS

MalaCards human disease database

More...
MalaCardsi
HMBS
MIMi176000 phenotype

Open Targets

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OpenTargetsi
ENSG00000256269

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

More...
Orphaneti
79276 Acute intermittent porphyria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29317

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3988601

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HMBS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1170217

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00001430342 – 361Porphobilinogen deaminaseAdd BLAST360

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 residuei2N-acetylserineCombined sources1
Modified residuei15PhosphoserineCombined sources1
Modified residuei69PhosphoserineCombined sources1
Modified residuei74N6-acetyllysineBy similarity1
Modified residuei147PhosphoserineCombined sources1
Modified residuei261S-(dipyrrolylmethanemethyl)cysteine1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P08397

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P08397

MaxQB - The MaxQuant DataBase

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MaxQBi
P08397

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

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PaxDbi
P08397

PeptideAtlas

More...
PeptideAtlasi
P08397

PRoteomics IDEntifications database

More...
PRIDEi
P08397

ProteomicsDB human proteome resource

More...
ProteomicsDBi
52108
52109 [P08397-2]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
P08397

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P08397

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

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PhosphoSitePlusi
P08397

<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

Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000256269 Expressed in 207 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

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CleanExi
HS_HMBS

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P08397 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P08397 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA006114
HPA050659

<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)

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BioGridi
109388, 12 interactors

Protein interaction database and analysis system

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IntActi
P08397, 5 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000278715

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P08397

<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

1361
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ECRX-ray2.18A/B1-361[»]
3EQ1X-ray2.80A/B1-361[»]
5M6RX-ray2.73A/B1-361[»]
5M7FX-ray2.78A/B18-361[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P08397

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

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SMRi
P08397

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P08397

<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 HMBS family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2892 Eukaryota
COG0181 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000009083

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000228587

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG000967

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P08397

KEGG Orthology (KO)

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KOi
K01749

Identification of Orthologs from Complete Genome Data

More...
OMAi
NAHEWAG

Database of Orthologous Groups

More...
OrthoDBi
1189095at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P08397

TreeFam database of animal gene trees

More...
TreeFami
TF105389

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.160.40, 1 hit

HAMAP database of protein families

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HAMAPi
MF_00260 Porphobil_deam, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000860 HemC
IPR022419 Porphobilin_deaminase_cofac_BS
IPR022417 Porphobilin_deaminase_N
IPR022418 Porphobilinogen_deaminase_C
IPR036803 Porphobilinogen_deaminase_C_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11557 PTHR11557, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01379 Porphobil_deam, 1 hit
PF03900 Porphobil_deamC, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF001438 4pyrrol_synth_OHMeBilane_synth, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00151 PORPHBDMNASE

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54782 SSF54782, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00212 hemC, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00533 PORPHOBILINOGEN_DEAM, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<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 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 4 <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 4 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P08397-1) [UniParc]FASTAAdd to basket
Also known as: Non-erythropoietic

This isoform has been chosen as the 'canonical' 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
MSGNGNAAAT AEENSPKMRV IRVGTRKSQL ARIQTDSVVA TLKASYPGLQ
60 70 80 90 100
FEIIAMSTTG DKILDTALSK IGEKSLFTKE LEHALEKNEV DLVVHSLKDL
110 120 130 140 150
PTVLPPGFTI GAICKRENPH DAVVFHPKFV GKTLETLPEK SVVGTSSLRR
160 170 180 190 200
AAQLQRKFPH LEFRSIRGNL NTRLRKLDEQ QEFSAIILAT AGLQRMGWHN
210 220 230 240 250
RVGQILHPEE CMYAVGQGAL GVEVRAKDQD ILDLVGVLHD PETLLRCIAE
260 270 280 290 300
RAFLRHLEGG CSVPVAVHTA MKDGQLYLTG GVWSLDGSDS IQETMQATIH
310 320 330 340 350
VPAQHEDGPE DDPQLVGITA RNIPRGPQLA AQNLGISLAN LLLSKGAKNI
360
LDVARQLNDA H
Length:361
Mass (Da):39,330
Last modified:November 1, 1995 - 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:i8F2F6F4150F1AD7E
GO
Isoform 2 (identifier: P08397-2) [UniParc]FASTAAdd to basket
Also known as: Erythrocyte

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.

Show »
Length:344
Mass (Da):37,699
Checksum:i0A5138172DB6E96F
GO
Isoform 3 (identifier: P08397-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     218-257: Missing.

Note: No experimental confirmation available.
Show »
Length:321
Mass (Da):34,895
Checksum:i5B2871947E3AF78A
GO
Isoform 4 (identifier: P08397-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.
     218-257: Missing.

Note: No experimental confirmation available.
Show »
Length:304
Mass (Da):33,264
Checksum:i05357CAA1B7417CC
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 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H345F5H345_HUMAN
Porphobilinogen deaminase
HMBS
330Annotation 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>
F5GY90F5GY90_HUMAN
Porphobilinogen deaminase
HMBS
187Annotation 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>
F5H226F5H226_HUMAN
Porphobilinogen deaminase
HMBS
191Annotation 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>
F5H4X2F5H4X2_HUMAN
Porphobilinogen deaminase
HMBS
81Annotation 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>
F5H0P4F5H0P4_HUMAN
Porphobilinogen deaminase
HMBS
228Annotation 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>
A0A1W2PNU5A0A1W2PNU5_HUMAN
Porphobilinogen deaminase
HMBS
190Annotation 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>
A0A3B3IRR1A0A3B3IRR1_HUMAN
Porphobilinogen deaminase
HMBS
338Annotation 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>
F5H4W5F5H4W5_HUMAN
Porphobilinogen deaminase
HMBS
63Annotation 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>
F5H4Y7F5H4Y7_HUMAN
Porphobilinogen deaminase
HMBS
81Annotation 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>
A0A0G2JQQ7A0A0G2JQQ7_HUMAN
Porphobilinogen deaminase
HMBS
119Annotation 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>
There are more potential isoformsShow all

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 conflicti177L → M in AAA60029 (PubMed:7916736).Curated1
Sequence conflicti177L → M in AAA60030 (PubMed:7916736).Curated1
Sequence conflicti210E → K in CAA28499 (PubMed:3816774).Curated1
Sequence conflicti349N → T in CAA27801 (PubMed:2875434).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02555818M → I in AIP. 1 Publication1
Natural variantiVAR_00363822R → C in AIP. 2 PublicationsCorresponds to variant dbSNP:rs189159450Ensembl.1
Natural variantiVAR_01100124G → S in AIP. 1
Natural variantiVAR_01100226R → C in AIP; less than 1% of wild-type deaminase activity. 4 PublicationsCorresponds to variant dbSNP:rs998842815Ensembl.1
Natural variantiVAR_00363926R → H in AIP; severe decrease in deaminase activity. 6 PublicationsCorresponds to variant dbSNP:rs118204103EnsemblClinVar.1
Natural variantiVAR_01100328S → N in AIP. 1
Natural variantiVAR_01100431A → P in AIP. 1 Publication1
Natural variantiVAR_00364031A → T in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204104EnsemblClinVar.1
Natural variantiVAR_07415132R → P in AIP; results in less than 1% of wild-type deaminase activity. 1 Publication1
Natural variantiVAR_00364134Q → K in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204105EnsemblClinVar.1
Natural variantiVAR_01100534Q → P in AIP; less than 3% of activity. 1 Publication1
Natural variantiVAR_02555934Q → R in AIP. 1 Publication1
Natural variantiVAR_01100635T → M in AIP. 1 PublicationCorresponds to variant dbSNP:rs974712040EnsemblClinVar.1
Natural variantiVAR_01100742L → S in AIP. 1 Publication1
Natural variantiVAR_00364255A → S in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204106EnsemblClinVar.1
Natural variantiVAR_07415259T → I in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 1 PublicationCorresponds to variant dbSNP:rs761004837Ensembl.1
Natural variantiVAR_01100861D → N in AIP. 1 Publication1
Natural variantiVAR_02556061D → Y in AIP. 1 Publication1
Natural variantiVAR_02556178T → P in AIP. 1 Publication1
Natural variantiVAR_02556280E → G in AIP. 1 Publication1
Natural variantiVAR_02556381L → P in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204119EnsemblClinVar.1
Natural variantiVAR_01100985L → R in AIP. 1 Publication1
Natural variantiVAR_02556486E → V in AIP. 1 PublicationCorresponds to variant dbSNP:rs150763621EnsemblClinVar.1
Natural variantiVAR_01101090V → G in AIP. 1 Publication1
Natural variantiVAR_02556592L → P in AIP. 1 Publication1
Natural variantiVAR_00364393V → F in AIP; loss of activity. 1 Publication1
Natural variantiVAR_02556693Missing in AIP. 1 Publication1
Natural variantiVAR_02556796S → F in AIP. 1 Publication1
Natural variantiVAR_00364498K → R in AIP. 1
Natural variantiVAR_02556899D → G in AIP; complete loss of deaminase activity. 2 Publications1
Natural variantiVAR_02556999D → H in AIP. 1 Publication1
Natural variantiVAR_02557099D → N in AIP. 1 Publication1
Natural variantiVAR_003645111G → R in AIP. 10 PublicationsCorresponds to variant dbSNP:rs118204107EnsemblClinVar.1
Natural variantiVAR_025571113I → T in AIP. 1 Publication1
Natural variantiVAR_003646116R → Q in AIP. 1 PublicationCorresponds to variant dbSNP:rs1165046276Ensembl.1
Natural variantiVAR_003647116R → W in AIP; loss of activity; affects protein conformation; lower thermal stability than wild-type enzyme. 5 PublicationsCorresponds to variant dbSNP:rs118204094EnsemblClinVar.1
Natural variantiVAR_003648119P → L in AIP. 2 Publications1
Natural variantiVAR_025572122A → G in AIP. 1 Publication1
Natural variantiVAR_011011124V → D in AIP. 1
Natural variantiVAR_073714132K → N Found in a patient with unclear porphyria-related biochemical findings and abdominal pain; unknown pathological significance; does not affect activity; does not affect Vmax; does not affect KM; does not affect thermal stability. 1 PublicationCorresponds to variant dbSNP:rs551209435Ensembl.1
Natural variantiVAR_003649149R → L in AIP. 1 Publication1
Natural variantiVAR_003650149R → Q in AIP; loss of deaminase activity. 2 PublicationsCorresponds to variant dbSNP:rs118204098EnsemblClinVar.1
Natural variantiVAR_009223152Missing in AIP. 1 Publication1
Natural variantiVAR_003651167R → Q in AIP; decreased deaminase activity due to defective enzyme-intermediate complexes turnover and regeneration of free enzyme molecules. 4 PublicationsCorresponds to variant dbSNP:rs118204095EnsemblClinVar.1
Natural variantiVAR_003652167R → W in AIP; results in less than 5% of wild-type activity; 2-fold decrease of Vmax; 33-fold increase of KM. 5 PublicationsCorresponds to variant dbSNP:rs118204101EnsemblClinVar.1
Natural variantiVAR_003653173R → Q in AIP; less than 1% of wild-type activity. 8 PublicationsCorresponds to variant dbSNP:rs118204096EnsemblClinVar.1
Natural variantiVAR_003654173R → W in AIP; 1% of wild-type activity; lower thermal stability than wild-type enzyme. 8 PublicationsCorresponds to variant dbSNP:rs575222284Ensembl.1
Natural variantiVAR_003655177L → R in AIP. 3 PublicationsCorresponds to variant dbSNP:rs118204108EnsemblClinVar.1
Natural variantiVAR_011012178D → N in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 2 PublicationsCorresponds to variant dbSNP:rs536814318EnsemblClinVar.1
Natural variantiVAR_003656195R → C in AIP; severe decrease of deaminase activity. 2 PublicationsCorresponds to variant dbSNP:rs34413634EnsemblClinVar.1
Natural variantiVAR_003657201R → W in AIP; residual activity. 4 PublicationsCorresponds to variant dbSNP:rs118204109EnsemblClinVar.1
Natural variantiVAR_011013202V → L in AIP. 1 PublicationCorresponds to variant dbSNP:rs914335144Ensembl.1
Natural variantiVAR_074153204Q → K in AIP; 46% wild-type deaminase activity; decreased enzyme stability. 1 Publication1
Natural variantiVAR_011014209E → K in AIP. Corresponds to variant dbSNP:rs1007859875Ensembl.1
Natural variantiVAR_025573212M → V in AIP; <2% residual activity. 1 PublicationCorresponds to variant dbSNP:rs772471000Ensembl.1
Natural variantiVAR_073715215V → E in AIP; unknown pathological significance; results in 30% of wild-type activity; 3-fold decrease of Vmax; normal KM; affects protein conformation. 2 PublicationsCorresponds to variant dbSNP:rs1205219549Ensembl.1
Natural variantiVAR_074154215V → M in AIP; 19% of wild-type deaminase activity. 1 Publication1
Natural variantiVAR_011015216G → D in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204116EnsemblClinVar.1
Natural variantiVAR_011016217Q → H in AIP. 1
Natural variantiVAR_011017217Q → L in AIP. 1 Publication1
Natural variantiVAR_011018219A → D in AIP. 1 Publication1
Natural variantiVAR_003658222V → M in AIP. 1 PublicationCorresponds to variant dbSNP:rs1261947877Ensembl.1
Natural variantiVAR_003659223E → K in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204110EnsemblClinVar.1
Natural variantiVAR_003660225R → G in AIP. 1 Publication1
Natural variantiVAR_025574225R → Q in AIP. 1 PublicationCorresponds to variant dbSNP:rs142459647EnsemblClinVar.1
Natural variantiVAR_025575236G → S in AIP. 1 Publication1
Natural variantiVAR_073716238L → P in AIP; unknown pathological significance. 1 Publication1
Natural variantiVAR_003661238L → R in AIP. 1
Natural variantiVAR_025576244L → P in AIP. 1 Publication1
Natural variantiVAR_003662245L → R in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204099EnsemblClinVar.1
Natural variantiVAR_003663247C → F in AIP; residual activity. 1 Publication1
Natural variantiVAR_003664247C → R in AIP; severe decrease of deaminase activity. 3 PublicationsCorresponds to variant dbSNP:rs118204111EnsemblClinVar.1
Natural variantiVAR_011019248I → IETLLRCI in AIP. 1
Natural variantiVAR_003665250E → A in AIP; severe decrease of deaminase activity. 2 Publications1
Natural variantiVAR_074155250E → D in AIP; less than 1% of wild-type deaminase activity. 1 Publication1
Natural variantiVAR_003666250E → K in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204112EnsemblClinVar.1
Natural variantiVAR_011020250E → Q in AIP. 1
Natural variantiVAR_011021250E → V in AIP. 1
Natural variantiVAR_003667252A → T in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204113EnsemblClinVar.1
Natural variantiVAR_003668252A → V in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204114EnsemblClinVar.1
Natural variantiVAR_025577254L → P in AIP. 1 Publication1
Natural variantiVAR_003669256H → N in AIP. 1 PublicationCorresponds to variant dbSNP:rs118204115EnsemblClinVar.1
Natural variantiVAR_011022256H → Y in AIP. 1 Publication1
Natural variantiVAR_025578260G → D in AIP. 1 PublicationCorresponds to variant dbSNP:rs990831395Ensembl.1
Natural variantiVAR_025579261C → Y in AIP. 1 PublicationCorresponds to variant dbSNP:rs1334178100Ensembl.1
Natural variantiVAR_011023267V → M in AIP. Corresponds to variant dbSNP:rs1057521126Ensembl.1
Natural variantiVAR_003670269T → I in AIP. 2 Publications1
Natural variantiVAR_011024270A → D in AIP. 1
Natural variantiVAR_011025270A → G in AIP. 1 Publication1
Natural variantiVAR_003671274G → R in AIP. 1 Publication1
Natural variantiVAR_003672278L → P in AIP. 1 Publication1
Natural variantiVAR_003673280G → R in AIP. 1
Natural variantiVAR_011026281Missing in AIP. 1 Publication1
Natural variantiVAR_011027329 – 332Missing in AIP. 1 Publication4
Natural variantiVAR_074156330A → P in AIP. 1 Publication1
Natural variantiVAR_011028335G → D in AIP. 1 Publication1
Natural variantiVAR_011029335G → S in AIP; less than 3% of activity. 1 Publication1
Natural variantiVAR_074157338L → P in AIP. 1 Publication1
Natural variantiVAR_025580343L → P in AIP. 1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0020671 – 17Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST17
Alternative sequenceiVSP_047294218 – 257Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST40

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
X04217 mRNA Translation: CAA27801.1
X04808 mRNA Translation: CAA28499.1
M95623 Genomic DNA Translation: AAA60029.1
M95623 Genomic DNA Translation: AAA60030.1
AK000628 mRNA No translation available.
AK131072 mRNA No translation available.
AK290275 mRNA Translation: BAF82964.1
AP003391 Genomic DNA No translation available.
AP003392 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW67447.1
CH471065 Genomic DNA Translation: EAW67449.1
CH471065 Genomic DNA Translation: EAW67450.1
BC000520 mRNA Translation: AAH00520.1
BC008149 mRNA Translation: AAH08149.1
BC019323 mRNA Translation: AAH19323.1
X68018 Genomic DNA Translation: CAA48156.1
S60381 Genomic DNA Translation: AAC60602.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41726.1 [P08397-2]
CCDS58186.1 [P08397-3]
CCDS58187.1 [P08397-4]
CCDS8409.1 [P08397-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A45012 IBHUN

NCBI Reference Sequences

More...
RefSeqi
NP_000181.2, NM_000190.3 [P08397-1]
NP_001019553.1, NM_001024382.1 [P08397-2]
NP_001245137.1, NM_001258208.1 [P08397-3]
NP_001245138.1, NM_001258209.1 [P08397-4]
XP_005271588.1, XM_005271531.1 [P08397-2]
XP_005271589.1, XM_005271532.1 [P08397-2]
XP_016873118.1, XM_017017629.1 [P08397-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.82609

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000278715; ENSP00000278715; ENSG00000256269 [P08397-1]
ENST00000392841; ENSP00000376584; ENSG00000256269 [P08397-2]
ENST00000537841; ENSP00000444730; ENSG00000256269 [P08397-2]
ENST00000539986; ENSP00000440092; ENSG00000256269 [P08397-2]
ENST00000542729; ENSP00000443058; ENSG00000256269 [P08397-4]
ENST00000544387; ENSP00000438424; ENSG00000256269 [P08397-3]
ENST00000626431; ENSP00000486122; ENSG00000281702 [P08397-2]
ENST00000627066; ENSP00000486176; ENSG00000281702 [P08397-1]
ENST00000627967; ENSP00000487456; ENSG00000281702 [P08397-2]
ENST00000628117; ENSP00000486199; ENSG00000281702 [P08397-2]
ENST00000629150; ENSP00000486742; ENSG00000281702 [P08397-3]
ENST00000630574; ENSP00000486658; ENSG00000281702 [P08397-4]
ENST00000648223; ENSP00000497689; ENSG00000281702 [P08397-2]
ENST00000648374; ENSP00000497255; ENSG00000256269 [P08397-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3145

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3145

UCSC genome browser

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UCSCi
uc001puz.2 human [P08397-1]

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