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Protein

Porphobilinogen deaminase

Gene

HMBS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

4 porphobilinogen + H2O = hydroxymethylbilane + 4 NH3.

Cofactori

dipyrromethaneNote: Binds 1 dipyrromethane group covalently.

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

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.

GO - Molecular functioni

  • hydroxymethylbilane synthase activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Heme biosynthesis, Porphyrin biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS07607-MONOMER.
ZFISH:HS07607-MONOMER.
BRENDAi2.5.1.61. 2681.
ReactomeiR-HSA-189451. Heme biosynthesis.
SABIO-RKP08397.
UniPathwayiUPA00251; UER00319.

Names & Taxonomyi

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
Gene namesi
Name:HMBS
Synonyms:PBGD, UPS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:4982. HMBS.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

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
Natural variantiVAR_02555818M → I in AIP. 1 Publication1
Natural variantiVAR_00363822R → C in AIP. 2 PublicationsCorresponds to variant rs189159450dbSNPEnsembl.1
Natural variantiVAR_01100124G → S in AIP. 1
Natural variantiVAR_01100226R → C in AIP; less than 1% of wild-type deaminase activity. 4 Publications1
Natural variantiVAR_00363926R → H in AIP; severe decrease in deaminase activity. 6 PublicationsCorresponds to variant rs118204103dbSNPEnsembl.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 rs118204104dbSNPEnsembl.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 rs118204105dbSNPEnsembl.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 Publication1
Natural variantiVAR_01100742L → S in AIP. 1 Publication1
Natural variantiVAR_00364255A → S in AIP. 1 PublicationCorresponds to variant rs118204106dbSNPEnsembl.1
Natural variantiVAR_07415259T → I in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 1 PublicationCorresponds to variant rs761004837dbSNPEnsembl.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 rs118204119dbSNPEnsembl.1
Natural variantiVAR_01100985L → R in AIP. 1 Publication1
Natural variantiVAR_02556486E → V in AIP. 1 PublicationCorresponds to variant rs150763621dbSNPEnsembl.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 rs118204107dbSNPEnsembl.1
Natural variantiVAR_025571113I → T in AIP. 1 Publication1
Natural variantiVAR_003646116R → Q in AIP. 1 Publication1
Natural variantiVAR_003647116R → W in AIP; loss of activity; affects protein conformation; lower thermal stability than wild-type enzyme. 5 PublicationsCorresponds to variant rs118204094dbSNPEnsembl.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 rs118204098dbSNPEnsembl.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 rs118204095dbSNPEnsembl.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 rs118204101dbSNPEnsembl.1
Natural variantiVAR_003653173R → Q in AIP; less than 1% of wild-type activity. 8 PublicationsCorresponds to variant rs118204096dbSNPEnsembl.1
Natural variantiVAR_003654173R → W in AIP; 1% of wild-type activity; lower thermal stability than wild-type enzyme. 8 PublicationsCorresponds to variant rs575222284dbSNPEnsembl.1
Natural variantiVAR_003655177L → R in AIP. 3 PublicationsCorresponds to variant rs118204108dbSNPEnsembl.1
Natural variantiVAR_011012178D → N in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 2 PublicationsCorresponds to variant rs536814318dbSNPEnsembl.1
Natural variantiVAR_003656195R → C in AIP; severe decrease of deaminase activity. 2 PublicationsCorresponds to variant rs34413634dbSNPEnsembl.1
Natural variantiVAR_003657201R → W in AIP; residual activity. 4 PublicationsCorresponds to variant rs118204109dbSNPEnsembl.1
Natural variantiVAR_011013202V → L in AIP. 1 Publication1
Natural variantiVAR_074153204Q → K in AIP; 46% wild-type deaminase activity; decreased enzyme stability. 1 Publication1
Natural variantiVAR_011014209E → K in AIP. 1
Natural variantiVAR_025573212M → V in AIP; <2% residual activity. 1 PublicationCorresponds to variant rs772471000dbSNPEnsembl.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 Publications1
Natural variantiVAR_074154215V → M in AIP; 19% of wild-type deaminase activity. 1 Publication1
Natural variantiVAR_011015216G → D in AIP. 1 PublicationCorresponds to variant rs118204116dbSNPEnsembl.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 Publication1
Natural variantiVAR_003659223E → K in AIP. 1 PublicationCorresponds to variant rs118204110dbSNPEnsembl.1
Natural variantiVAR_003660225R → G in AIP. 1 Publication1
Natural variantiVAR_025574225R → Q in AIP. 1 PublicationCorresponds to variant rs142459647dbSNPEnsembl.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 rs118204099dbSNPEnsembl.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 rs118204111dbSNPEnsembl.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 rs118204112dbSNPEnsembl.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 rs118204113dbSNPEnsembl.1
Natural variantiVAR_003668252A → V in AIP. 1 PublicationCorresponds to variant rs118204114dbSNPEnsembl.1
Natural variantiVAR_025577254L → P in AIP. 1 Publication1
Natural variantiVAR_003669256H → N in AIP. 1 PublicationCorresponds to variant rs118204115dbSNPEnsembl.1
Natural variantiVAR_011022256H → Y in AIP. 1 Publication1
Natural variantiVAR_025578260G → D in AIP. 1 Publication1
Natural variantiVAR_025579261C → Y in AIP. 1 Publication1
Natural variantiVAR_011023267V → M in AIP. 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

DisGeNETi3145.
MalaCardsiHMBS.
MIMi176000. phenotype.
OpenTargetsiENSG00000256269.
ENSG00000281702.
Orphaneti79276. Acute intermittent porphyria.
PharmGKBiPA29317.

Polymorphism and mutation databases

BioMutaiHMBS.
DMDMi1170217.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001430342 – 361Porphobilinogen deaminaseAdd BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

EPDiP08397.
MaxQBiP08397.
PaxDbiP08397.
PeptideAtlasiP08397.
PRIDEiP08397.

PTM databases

iPTMnetiP08397.
PhosphoSitePlusiP08397.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000256269.
CleanExiHS_HMBS.
ExpressionAtlasiP08397. baseline and differential.
GenevisibleiP08397. HS.

Organism-specific databases

HPAiHPA006114.
HPA050659.

Interactioni

Protein-protein interaction databases

BioGridi109388. 12 interactors.
IntActiP08397. 3 interactors.
STRINGi9606.ENSP00000278715.

Chemistry databases

BindingDBiP08397.

Structurei

Secondary structure

1361
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi20 – 28Combined sources9
Helixi29 – 45Combined sources17
Beta strandi49 – 56Combined sources8
Helixi78 – 86Combined sources9
Beta strandi91 – 96Combined sources6
Helixi97 – 99Combined sources3
Beta strandi108 – 113Combined sources6
Beta strandi121 – 125Combined sources5
Helixi127 – 129Combined sources3
Turni134 – 136Combined sources3
Beta strandi142 – 144Combined sources3
Helixi148 – 157Combined sources10
Beta strandi161 – 164Combined sources4
Helixi170 – 179Combined sources10
Beta strandi180 – 182Combined sources3
Beta strandi184 – 189Combined sources6
Helixi190 – 195Combined sources6
Helixi199 – 201Combined sources3
Turni208 – 210Combined sources3
Turni215 – 218Combined sources4
Beta strandi220 – 225Combined sources6
Helixi229 – 236Combined sources8
Helixi241 – 257Combined sources17
Beta strandi263 – 272Combined sources10
Beta strandi275 – 283Combined sources9
Beta strandi289 – 298Combined sources10
Helixi325 – 344Combined sources20
Helixi347 – 353Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ECRX-ray2.18A/B1-361[»]
3EQ1X-ray2.80A/B1-361[»]
ProteinModelPortaliP08397.
SMRiP08397.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP08397.

Family & Domainsi

Sequence similaritiesi

Belongs to the HMBS family.Curated

Phylogenomic databases

eggNOGiKOG2892. Eukaryota.
COG0181. LUCA.
GeneTreeiENSGT00390000009083.
HOGENOMiHOG000228587.
HOVERGENiHBG000967.
InParanoidiP08397.
KOiK01749.
OMAiGAICIES.
OrthoDBiEOG091G0B9U.
PhylomeDBiP08397.
TreeFamiTF105389.

Family and domain databases

Gene3Di3.30.160.40. 1 hit.
HAMAPiMF_00260. Porphobil_deam. 1 hit.
InterProiIPR000860. HemC.
IPR022419. Porphobilin_deaminase_cofac_BS.
IPR022417. Porphobilin_deaminase_N.
IPR022418. Porphobilinogen_deaminase_C.
[Graphical view]
PANTHERiPTHR11557. PTHR11557. 2 hits.
PfamiPF01379. Porphobil_deam. 1 hit.
PF03900. Porphobil_deamC. 1 hit.
[Graphical view]
PIRSFiPIRSF001438. 4pyrrol_synth_OHMeBilane_synth. 1 hit.
PRINTSiPR00151. PORPHBDMNASE.
SUPFAMiSSF54782. SSF54782. 2 hits.
TIGRFAMsiTIGR00212. hemC. 1 hit.
PROSITEiPS00533. PORPHOBILINOGEN_DEAM. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs189159450dbSNPEnsembl.1
Natural variantiVAR_01100124G → S in AIP. 1
Natural variantiVAR_01100226R → C in AIP; less than 1% of wild-type deaminase activity. 4 Publications1
Natural variantiVAR_00363926R → H in AIP; severe decrease in deaminase activity. 6 PublicationsCorresponds to variant rs118204103dbSNPEnsembl.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 rs118204104dbSNPEnsembl.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 rs118204105dbSNPEnsembl.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 Publication1
Natural variantiVAR_01100742L → S in AIP. 1 Publication1
Natural variantiVAR_00364255A → S in AIP. 1 PublicationCorresponds to variant rs118204106dbSNPEnsembl.1
Natural variantiVAR_07415259T → I in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 1 PublicationCorresponds to variant rs761004837dbSNPEnsembl.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 rs118204119dbSNPEnsembl.1
Natural variantiVAR_01100985L → R in AIP. 1 Publication1
Natural variantiVAR_02556486E → V in AIP. 1 PublicationCorresponds to variant rs150763621dbSNPEnsembl.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 rs118204107dbSNPEnsembl.1
Natural variantiVAR_025571113I → T in AIP. 1 Publication1
Natural variantiVAR_003646116R → Q in AIP. 1 Publication1
Natural variantiVAR_003647116R → W in AIP; loss of activity; affects protein conformation; lower thermal stability than wild-type enzyme. 5 PublicationsCorresponds to variant rs118204094dbSNPEnsembl.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 rs551209435dbSNPEnsembl.1
Natural variantiVAR_003649149R → L in AIP. 1 Publication1
Natural variantiVAR_003650149R → Q in AIP; loss of deaminase activity. 2 PublicationsCorresponds to variant rs118204098dbSNPEnsembl.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 rs118204095dbSNPEnsembl.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 rs118204101dbSNPEnsembl.1
Natural variantiVAR_003653173R → Q in AIP; less than 1% of wild-type activity. 8 PublicationsCorresponds to variant rs118204096dbSNPEnsembl.1
Natural variantiVAR_003654173R → W in AIP; 1% of wild-type activity; lower thermal stability than wild-type enzyme. 8 PublicationsCorresponds to variant rs575222284dbSNPEnsembl.1
Natural variantiVAR_003655177L → R in AIP. 3 PublicationsCorresponds to variant rs118204108dbSNPEnsembl.1
Natural variantiVAR_011012178D → N in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 2 PublicationsCorresponds to variant rs536814318dbSNPEnsembl.1
Natural variantiVAR_003656195R → C in AIP; severe decrease of deaminase activity. 2 PublicationsCorresponds to variant rs34413634dbSNPEnsembl.1
Natural variantiVAR_003657201R → W in AIP; residual activity. 4 PublicationsCorresponds to variant rs118204109dbSNPEnsembl.1
Natural variantiVAR_011013202V → L in AIP. 1 Publication1
Natural variantiVAR_074153204Q → K in AIP; 46% wild-type deaminase activity; decreased enzyme stability. 1 Publication1
Natural variantiVAR_011014209E → K in AIP. 1
Natural variantiVAR_025573212M → V in AIP; <2% residual activity. 1 PublicationCorresponds to variant rs772471000dbSNPEnsembl.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 Publications1
Natural variantiVAR_074154215V → M in AIP; 19% of wild-type deaminase activity. 1 Publication1
Natural variantiVAR_011015216G → D in AIP. 1 PublicationCorresponds to variant rs118204116dbSNPEnsembl.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 Publication1
Natural variantiVAR_003659223E → K in AIP. 1 PublicationCorresponds to variant rs118204110dbSNPEnsembl.1
Natural variantiVAR_003660225R → G in AIP. 1 Publication1
Natural variantiVAR_025574225R → Q in AIP. 1 PublicationCorresponds to variant rs142459647dbSNPEnsembl.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 rs118204099dbSNPEnsembl.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 rs118204111dbSNPEnsembl.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 rs118204112dbSNPEnsembl.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 rs118204113dbSNPEnsembl.1
Natural variantiVAR_003668252A → V in AIP. 1 PublicationCorresponds to variant rs118204114dbSNPEnsembl.1
Natural variantiVAR_025577254L → P in AIP. 1 Publication1
Natural variantiVAR_003669256H → N in AIP. 1 PublicationCorresponds to variant rs118204115dbSNPEnsembl.1
Natural variantiVAR_011022256H → Y in AIP. 1 Publication1
Natural variantiVAR_025578260G → D in AIP. 1 Publication1
Natural variantiVAR_025579261C → Y in AIP. 1 Publication1
Natural variantiVAR_011023267V → M in AIP. 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
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:
EMBLi
GenBanki
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.
CCDSiCCDS41726.1. [P08397-2]
CCDS58186.1. [P08397-3]
CCDS58187.1. [P08397-4]
CCDS8409.1. [P08397-1]
PIRiA45012. IBHUN.
RefSeqiNP_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]
UniGeneiHs.82609.

Genome annotation databases

EnsembliENST00000278715; ENSP00000278715; ENSG00000256269. [P08397-1]
ENST00000392841; ENSP00000376584; ENSG00000256269. [P08397-2]
ENST00000442944; ENSP00000392041; ENSG00000256269. [P08397-2]
ENST00000537841; ENSP00000444730; ENSG00000256269. [P08397-2]
ENST00000542729; ENSP00000443058; ENSG00000256269. [P08397-4]
ENST00000544387; ENSP00000438424; ENSG00000256269. [P08397-3]
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]
ENST00000630689; ENSP00000486979; ENSG00000281702. [P08397-2]
GeneIDi3145.
KEGGihsa:3145.
UCSCiuc001puz.2. human. [P08397-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
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.
CCDSiCCDS41726.1. [P08397-2]
CCDS58186.1. [P08397-3]
CCDS58187.1. [P08397-4]
CCDS8409.1. [P08397-1]
PIRiA45012. IBHUN.
RefSeqiNP_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]
UniGeneiHs.82609.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ECRX-ray2.18A/B1-361[»]
3EQ1X-ray2.80A/B1-361[»]
ProteinModelPortaliP08397.
SMRiP08397.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109388. 12 interactors.
IntActiP08397. 3 interactors.
STRINGi9606.ENSP00000278715.

Chemistry databases

BindingDBiP08397.

PTM databases

iPTMnetiP08397.
PhosphoSitePlusiP08397.

Polymorphism and mutation databases

BioMutaiHMBS.
DMDMi1170217.

Proteomic databases

EPDi