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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)
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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Heme biosynthesis, Porphyrin biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS07607-MONOMER.
BRENDAi2.5.1.61. 2681.
ReactomeiR-HSA-189451. Heme biosynthesis.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181M → I in AIP. 1 Publication
VAR_025558
Natural varianti22 – 221R → C in AIP. 2 Publications
Corresponds to variant rs189159450 [ dbSNP | Ensembl ].
VAR_003638
Natural varianti24 – 241G → S in AIP.
VAR_011001
Natural varianti26 – 261R → C in AIP; less than 1% of wild-type deaminase activity. 4 Publications
VAR_011002
Natural varianti26 – 261R → H in AIP; severe decrease in deaminase activity. 6 Publications
Corresponds to variant rs118204103 [ dbSNP | Ensembl ].
VAR_003639
Natural varianti28 – 281S → N in AIP.
VAR_011003
Natural varianti31 – 311A → P in AIP. 1 Publication
VAR_011004
Natural varianti31 – 311A → T in AIP. 1 Publication
Corresponds to variant rs118204104 [ dbSNP | Ensembl ].
VAR_003640
Natural varianti32 – 321R → P in AIP; results in less than 1% of wild-type deaminase activity. 1 Publication
VAR_074151
Natural varianti34 – 341Q → K in AIP. 1 Publication
Corresponds to variant rs118204105 [ dbSNP | Ensembl ].
VAR_003641
Natural varianti34 – 341Q → P in AIP; less than 3% of activity. 1 Publication
VAR_011005
Natural varianti34 – 341Q → R in AIP. 1 Publication
VAR_025559
Natural varianti35 – 351T → M in AIP. 1 Publication
VAR_011006
Natural varianti42 – 421L → S in AIP. 1 Publication
VAR_011007
Natural varianti55 – 551A → S in AIP. 1 Publication
Corresponds to variant rs118204106 [ dbSNP | Ensembl ].
VAR_003642
Natural varianti59 – 591T → I in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 1 Publication
Corresponds to variant rs761004837 [ dbSNP | Ensembl ].
VAR_074152
Natural varianti61 – 611D → N in AIP. 1 Publication
VAR_011008
Natural varianti61 – 611D → Y in AIP. 1 Publication
VAR_025560
Natural varianti78 – 781T → P in AIP. 1 Publication
VAR_025561
Natural varianti80 – 801E → G in AIP. 1 Publication
VAR_025562
Natural varianti81 – 811L → P in AIP. 1 Publication
Corresponds to variant rs118204119 [ dbSNP | Ensembl ].
VAR_025563
Natural varianti85 – 851L → R in AIP. 1 Publication
VAR_011009
Natural varianti86 – 861E → V in AIP. 1 Publication
Corresponds to variant rs150763621 [ dbSNP | Ensembl ].
VAR_025564
Natural varianti90 – 901V → G in AIP. 1 Publication
VAR_011010
Natural varianti92 – 921L → P in AIP. 1 Publication
VAR_025565
Natural varianti93 – 931V → F in AIP; loss of activity. 1 Publication
VAR_003643
Natural varianti93 – 931Missing in AIP. 1 Publication
VAR_025566
Natural varianti96 – 961S → F in AIP. 1 Publication
VAR_025567
Natural varianti98 – 981K → R in AIP.
VAR_003644
Natural varianti99 – 991D → G in AIP; complete loss of deaminase activity. 2 Publications
VAR_025568
Natural varianti99 – 991D → H in AIP. 1 Publication
VAR_025569
Natural varianti99 – 991D → N in AIP. 1 Publication
VAR_025570
Natural varianti111 – 1111G → R in AIP. 10 Publications
Corresponds to variant rs118204107 [ dbSNP | Ensembl ].
VAR_003645
Natural varianti113 – 1131I → T in AIP. 1 Publication
VAR_025571
Natural varianti116 – 1161R → Q in AIP. 1 Publication
VAR_003646
Natural varianti116 – 1161R → W in AIP; loss of activity; affects protein conformation; lower thermal stability than wild-type enzyme. 5 Publications
Corresponds to variant rs118204094 [ dbSNP | Ensembl ].
VAR_003647
Natural varianti119 – 1191P → L in AIP. 2 Publications
VAR_003648
Natural varianti122 – 1221A → G in AIP. 1 Publication
VAR_025572
Natural varianti124 – 1241V → D in AIP.
VAR_011011
Natural varianti149 – 1491R → L in AIP. 1 Publication
VAR_003649
Natural varianti149 – 1491R → Q in AIP; loss of deaminase activity. 2 Publications
Corresponds to variant rs118204098 [ dbSNP | Ensembl ].
VAR_003650
Natural varianti152 – 1521Missing in AIP. 1 Publication
VAR_009223
Natural varianti167 – 1671R → Q in AIP; decreased deaminase activity due to defective enzyme-intermediate complexes turnover and regeneration of free enzyme molecules. 4 Publications
Corresponds to variant rs118204095 [ dbSNP | Ensembl ].
VAR_003651
Natural varianti167 – 1671R → W in AIP; results in less than 5% of wild-type activity; 2-fold decrease of Vmax; 33-fold increase of KM. 5 Publications
Corresponds to variant rs118204101 [ dbSNP | Ensembl ].
VAR_003652
Natural varianti173 – 1731R → Q in AIP; less than 1% of wild-type activity. 8 Publications
Corresponds to variant rs118204096 [ dbSNP | Ensembl ].
VAR_003653
Natural varianti173 – 1731R → W in AIP; 1% of wild-type activity; lower thermal stability than wild-type enzyme. 8 Publications
VAR_003654
Natural varianti177 – 1771L → R in AIP. 3 Publications
Corresponds to variant rs118204108 [ dbSNP | Ensembl ].
VAR_003655
Natural varianti178 – 1781D → N in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 2 Publications
Corresponds to variant rs536814318 [ dbSNP | Ensembl ].
VAR_011012
Natural varianti195 – 1951R → C in AIP; severe decrease of deaminase activity. 2 Publications
Corresponds to variant rs34413634 [ dbSNP | Ensembl ].
VAR_003656
Natural varianti201 – 2011R → W in AIP; residual activity. 4 Publications
Corresponds to variant rs118204109 [ dbSNP | Ensembl ].
VAR_003657
Natural varianti202 – 2021V → L in AIP. 1 Publication
VAR_011013
Natural varianti204 – 2041Q → K in AIP; 46% wild-type deaminase activity; decreased enzyme stability. 1 Publication
VAR_074153
Natural varianti209 – 2091E → K in AIP.
VAR_011014
Natural varianti212 – 2121M → V in AIP; <2% residual activity. 1 Publication
Corresponds to variant rs772471000 [ dbSNP | Ensembl ].
VAR_025573
Natural varianti215 – 2151V → E in AIP; unknown pathological significance; results in 30% of wild-type activity; 3-fold decrease of Vmax; normal KM; affects protein conformation. 2 Publications
VAR_073715
Natural varianti215 – 2151V → M in AIP; 19% of wild-type deaminase activity. 1 Publication
VAR_074154
Natural varianti216 – 2161G → D in AIP. 1 Publication
Corresponds to variant rs118204116 [ dbSNP | Ensembl ].
VAR_011015
Natural varianti217 – 2171Q → H in AIP.
VAR_011016
Natural varianti217 – 2171Q → L in AIP. 1 Publication
VAR_011017
Natural varianti219 – 2191A → D in AIP. 1 Publication
VAR_011018
Natural varianti222 – 2221V → M in AIP. 1 Publication
VAR_003658
Natural varianti223 – 2231E → K in AIP. 1 Publication
Corresponds to variant rs118204110 [ dbSNP | Ensembl ].
VAR_003659
Natural varianti225 – 2251R → G in AIP. 1 Publication
VAR_003660
Natural varianti225 – 2251R → Q in AIP. 1 Publication
Corresponds to variant rs142459647 [ dbSNP | Ensembl ].
VAR_025574
Natural varianti236 – 2361G → S in AIP. 1 Publication
VAR_025575
Natural varianti238 – 2381L → P in AIP; unknown pathological significance. 1 Publication
VAR_073716
Natural varianti238 – 2381L → R in AIP.
VAR_003661
Natural varianti244 – 2441L → P in AIP. 1 Publication
VAR_025576
Natural varianti245 – 2451L → R in AIP. 1 Publication
Corresponds to variant rs118204099 [ dbSNP | Ensembl ].
VAR_003662
Natural varianti247 – 2471C → F in AIP; residual activity. 1 Publication
VAR_003663
Natural varianti247 – 2471C → R in AIP; severe decrease of deaminase activity. 3 Publications
Corresponds to variant rs118204111 [ dbSNP | Ensembl ].
VAR_003664
Natural varianti248 – 2481I → IETLLRCI in AIP.
VAR_011019
Natural varianti250 – 2501E → A in AIP; severe decrease of deaminase activity. 2 Publications
VAR_003665
Natural varianti250 – 2501E → D in AIP; less than 1% of wild-type deaminase activity. 1 Publication
VAR_074155
Natural varianti250 – 2501E → K in AIP. 1 Publication
Corresponds to variant rs118204112 [ dbSNP | Ensembl ].
VAR_003666
Natural varianti250 – 2501E → Q in AIP.
VAR_011020
Natural varianti250 – 2501E → V in AIP.
VAR_011021
Natural varianti252 – 2521A → T in AIP. 1 Publication
Corresponds to variant rs118204113 [ dbSNP | Ensembl ].
VAR_003667
Natural varianti252 – 2521A → V in AIP. 1 Publication
Corresponds to variant rs118204114 [ dbSNP | Ensembl ].
VAR_003668
Natural varianti254 – 2541L → P in AIP. 1 Publication
VAR_025577
Natural varianti256 – 2561H → N in AIP. 1 Publication
Corresponds to variant rs118204115 [ dbSNP | Ensembl ].
VAR_003669
Natural varianti256 – 2561H → Y in AIP. 1 Publication
VAR_011022
Natural varianti260 – 2601G → D in AIP. 1 Publication
VAR_025578
Natural varianti261 – 2611C → Y in AIP. 1 Publication
VAR_025579
Natural varianti267 – 2671V → M in AIP.
VAR_011023
Natural varianti269 – 2691T → I in AIP. 2 Publications
VAR_003670
Natural varianti270 – 2701A → D in AIP.
VAR_011024
Natural varianti270 – 2701A → G in AIP. 1 Publication
VAR_011025
Natural varianti274 – 2741G → R in AIP. 1 Publication
VAR_003671
Natural varianti278 – 2781L → P in AIP. 1 Publication
VAR_003672
Natural varianti280 – 2801G → R in AIP.
VAR_003673
Natural varianti281 – 2811Missing in AIP. 1 Publication
VAR_011026
Natural varianti329 – 3324Missing in AIP. 1 Publication
VAR_011027
Natural varianti330 – 3301A → P in AIP. 1 Publication
VAR_074156
Natural varianti335 – 3351G → D in AIP. 1 Publication
VAR_011028
Natural varianti335 – 3351G → S in AIP; less than 3% of activity. 1 Publication
VAR_011029
Natural varianti338 – 3381L → P in AIP. 1 Publication
VAR_074157
Natural varianti343 – 3431L → P in AIP. 1 Publication
VAR_025580

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiHMBS.
MIMi176000. phenotype.
Orphaneti79276. Acute intermittent porphyria.
PharmGKBiPA29317.

Polymorphism and mutation databases

BioMutaiHMBS.
DMDMi1170217.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 361360Porphobilinogen deaminasePRO_0000143034Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserineCombined sources
Modified residuei15 – 151PhosphoserineCombined sources
Modified residuei69 – 691PhosphoserineCombined sources
Modified residuei74 – 741N6-acetyllysineBy similarity
Modified residuei147 – 1471PhosphoserineCombined sources
Modified residuei261 – 2611S-(dipyrrolylmethanemethyl)cysteine

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP08397.
MaxQBiP08397.
PaxDbiP08397.
PeptideAtlasiP08397.
PRIDEiP08397.

PTM databases

iPTMnetiP08397.
PhosphoSiteiP08397.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP08397.
CleanExiHS_HMBS.
ExpressionAtlasiP08397. baseline and differential.
GenevisibleiP08397. HS.

Organism-specific databases

HPAiHPA006114.
HPA050659.

Interactioni

Protein-protein interaction databases

BioGridi109388. 12 interactions.
IntActiP08397. 2 interactions.
STRINGi9606.ENSP00000278715.

Structurei

Secondary structure

1
361
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi20 – 289Combined sources
Helixi29 – 4517Combined sources
Beta strandi49 – 568Combined sources
Helixi78 – 869Combined sources
Beta strandi91 – 966Combined sources
Helixi97 – 993Combined sources
Beta strandi108 – 1136Combined sources
Beta strandi121 – 1255Combined sources
Helixi127 – 1293Combined sources
Turni134 – 1363Combined sources
Beta strandi142 – 1443Combined sources
Helixi148 – 15710Combined sources
Beta strandi161 – 1644Combined sources
Helixi170 – 17910Combined sources
Beta strandi180 – 1823Combined sources
Beta strandi184 – 1896Combined sources
Helixi190 – 1956Combined sources
Helixi199 – 2013Combined sources
Turni208 – 2103Combined sources
Turni215 – 2184Combined sources
Beta strandi220 – 2256Combined sources
Helixi229 – 2368Combined sources
Helixi241 – 25717Combined sources
Beta strandi263 – 27210Combined sources
Beta strandi275 – 2839Combined sources
Beta strandi289 – 29810Combined sources
Helixi325 – 34420Combined sources
Helixi347 – 3537Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3ECRX-ray2.18A/B1-361[»]
3EQ1X-ray2.80A/B1-361[»]
ProteinModelPortaliP08397.
SMRiP08397. Positions 18-356.
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.
OMAiGAHTLMG.
PhylomeDBiP08397.
TreeFamiTF105389.

Family and domain databases

Gene3Di3.30.160.40. 1 hit.
HAMAPiMF_00260. Porphobil_deam.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti177 – 1771L → M in AAA60029 (PubMed:7916736).Curated
Sequence conflicti177 – 1771L → M in AAA60030 (PubMed:7916736).Curated
Sequence conflicti210 – 2101E → K in CAA28499 (PubMed:3816774).Curated
Sequence conflicti349 – 3491N → T in CAA27801 (PubMed:2875434).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181M → I in AIP. 1 Publication
VAR_025558
Natural varianti22 – 221R → C in AIP. 2 Publications
Corresponds to variant rs189159450 [ dbSNP | Ensembl ].
VAR_003638
Natural varianti24 – 241G → S in AIP.
VAR_011001
Natural varianti26 – 261R → C in AIP; less than 1% of wild-type deaminase activity. 4 Publications
VAR_011002
Natural varianti26 – 261R → H in AIP; severe decrease in deaminase activity. 6 Publications
Corresponds to variant rs118204103 [ dbSNP | Ensembl ].
VAR_003639
Natural varianti28 – 281S → N in AIP.
VAR_011003
Natural varianti31 – 311A → P in AIP. 1 Publication
VAR_011004
Natural varianti31 – 311A → T in AIP. 1 Publication
Corresponds to variant rs118204104 [ dbSNP | Ensembl ].
VAR_003640
Natural varianti32 – 321R → P in AIP; results in less than 1% of wild-type deaminase activity. 1 Publication
VAR_074151
Natural varianti34 – 341Q → K in AIP. 1 Publication
Corresponds to variant rs118204105 [ dbSNP | Ensembl ].
VAR_003641
Natural varianti34 – 341Q → P in AIP; less than 3% of activity. 1 Publication
VAR_011005
Natural varianti34 – 341Q → R in AIP. 1 Publication
VAR_025559
Natural varianti35 – 351T → M in AIP. 1 Publication
VAR_011006
Natural varianti42 – 421L → S in AIP. 1 Publication
VAR_011007
Natural varianti55 – 551A → S in AIP. 1 Publication
Corresponds to variant rs118204106 [ dbSNP | Ensembl ].
VAR_003642
Natural varianti59 – 591T → I in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 1 Publication
Corresponds to variant rs761004837 [ dbSNP | Ensembl ].
VAR_074152
Natural varianti61 – 611D → N in AIP. 1 Publication
VAR_011008
Natural varianti61 – 611D → Y in AIP. 1 Publication
VAR_025560
Natural varianti78 – 781T → P in AIP. 1 Publication
VAR_025561
Natural varianti80 – 801E → G in AIP. 1 Publication
VAR_025562
Natural varianti81 – 811L → P in AIP. 1 Publication
Corresponds to variant rs118204119 [ dbSNP | Ensembl ].
VAR_025563
Natural varianti85 – 851L → R in AIP. 1 Publication
VAR_011009
Natural varianti86 – 861E → V in AIP. 1 Publication
Corresponds to variant rs150763621 [ dbSNP | Ensembl ].
VAR_025564
Natural varianti90 – 901V → G in AIP. 1 Publication
VAR_011010
Natural varianti92 – 921L → P in AIP. 1 Publication
VAR_025565
Natural varianti93 – 931V → F in AIP; loss of activity. 1 Publication
VAR_003643
Natural varianti93 – 931Missing in AIP. 1 Publication
VAR_025566
Natural varianti96 – 961S → F in AIP. 1 Publication
VAR_025567
Natural varianti98 – 981K → R in AIP.
VAR_003644
Natural varianti99 – 991D → G in AIP; complete loss of deaminase activity. 2 Publications
VAR_025568
Natural varianti99 – 991D → H in AIP. 1 Publication
VAR_025569
Natural varianti99 – 991D → N in AIP. 1 Publication
VAR_025570
Natural varianti111 – 1111G → R in AIP. 10 Publications
Corresponds to variant rs118204107 [ dbSNP | Ensembl ].
VAR_003645
Natural varianti113 – 1131I → T in AIP. 1 Publication
VAR_025571
Natural varianti116 – 1161R → Q in AIP. 1 Publication
VAR_003646
Natural varianti116 – 1161R → W in AIP; loss of activity; affects protein conformation; lower thermal stability than wild-type enzyme. 5 Publications
Corresponds to variant rs118204094 [ dbSNP | Ensembl ].
VAR_003647
Natural varianti119 – 1191P → L in AIP. 2 Publications
VAR_003648
Natural varianti122 – 1221A → G in AIP. 1 Publication
VAR_025572
Natural varianti124 – 1241V → D in AIP.
VAR_011011
Natural varianti132 – 1321K → 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 Publication
Corresponds to variant rs551209435 [ dbSNP | Ensembl ].
VAR_073714
Natural varianti149 – 1491R → L in AIP. 1 Publication
VAR_003649
Natural varianti149 – 1491R → Q in AIP; loss of deaminase activity. 2 Publications
Corresponds to variant rs118204098 [ dbSNP | Ensembl ].
VAR_003650
Natural varianti152 – 1521Missing in AIP. 1 Publication
VAR_009223
Natural varianti167 – 1671R → Q in AIP; decreased deaminase activity due to defective enzyme-intermediate complexes turnover and regeneration of free enzyme molecules. 4 Publications
Corresponds to variant rs118204095 [ dbSNP | Ensembl ].
VAR_003651
Natural varianti167 – 1671R → W in AIP; results in less than 5% of wild-type activity; 2-fold decrease of Vmax; 33-fold increase of KM. 5 Publications
Corresponds to variant rs118204101 [ dbSNP | Ensembl ].
VAR_003652
Natural varianti173 – 1731R → Q in AIP; less than 1% of wild-type activity. 8 Publications
Corresponds to variant rs118204096 [ dbSNP | Ensembl ].
VAR_003653
Natural varianti173 – 1731R → W in AIP; 1% of wild-type activity; lower thermal stability than wild-type enzyme. 8 Publications
VAR_003654
Natural varianti177 – 1771L → R in AIP. 3 Publications
Corresponds to variant rs118204108 [ dbSNP | Ensembl ].
VAR_003655
Natural varianti178 – 1781D → N in AIP; unknown pathological significance; has 80% of wild-type deaminase activity. 2 Publications
Corresponds to variant rs536814318 [ dbSNP | Ensembl ].
VAR_011012
Natural varianti195 – 1951R → C in AIP; severe decrease of deaminase activity. 2 Publications
Corresponds to variant rs34413634 [ dbSNP | Ensembl ].
VAR_003656
Natural varianti201 – 2011R → W in AIP; residual activity. 4 Publications
Corresponds to variant rs118204109 [ dbSNP | Ensembl ].
VAR_003657
Natural varianti202 – 2021V → L in AIP. 1 Publication
VAR_011013
Natural varianti204 – 2041Q → K in AIP; 46% wild-type deaminase activity; decreased enzyme stability. 1 Publication
VAR_074153
Natural varianti209 – 2091E → K in AIP.
VAR_011014
Natural varianti212 – 2121M → V in AIP; <2% residual activity. 1 Publication
Corresponds to variant rs772471000 [ dbSNP | Ensembl ].
VAR_025573
Natural varianti215 – 2151V → E in AIP; unknown pathological significance; results in 30% of wild-type activity; 3-fold decrease of Vmax; normal KM; affects protein conformation. 2 Publications
VAR_073715
Natural varianti215 – 2151V → M in AIP; 19% of wild-type deaminase activity. 1 Publication
VAR_074154
Natural varianti216 – 2161G → D in AIP. 1 Publication
Corresponds to variant rs118204116 [ dbSNP | Ensembl ].
VAR_011015
Natural varianti217 – 2171Q → H in AIP.
VAR_011016
Natural varianti217 – 2171Q → L in AIP. 1 Publication
VAR_011017
Natural varianti219 – 2191A → D in AIP. 1 Publication
VAR_011018
Natural varianti222 – 2221V → M in AIP. 1 Publication
VAR_003658
Natural varianti223 – 2231E → K in AIP. 1 Publication
Corresponds to variant rs118204110 [ dbSNP | Ensembl ].
VAR_003659
Natural varianti225 – 2251R → G in AIP. 1 Publication
VAR_003660
Natural varianti225 – 2251R → Q in AIP. 1 Publication
Corresponds to variant rs142459647 [ dbSNP | Ensembl ].
VAR_025574
Natural varianti236 – 2361G → S in AIP. 1 Publication
VAR_025575
Natural varianti238 – 2381L → P in AIP; unknown pathological significance. 1 Publication
VAR_073716
Natural varianti238 – 2381L → R in AIP.
VAR_003661
Natural varianti244 – 2441L → P in AIP. 1 Publication
VAR_025576
Natural varianti245 – 2451L → R in AIP. 1 Publication
Corresponds to variant rs118204099 [ dbSNP | Ensembl ].
VAR_003662
Natural varianti247 – 2471C → F in AIP; residual activity. 1 Publication
VAR_003663
Natural varianti247 – 2471C → R in AIP; severe decrease of deaminase activity. 3 Publications
Corresponds to variant rs118204111 [ dbSNP | Ensembl ].
VAR_003664
Natural varianti248 – 2481I → IETLLRCI in AIP.
VAR_011019
Natural varianti250 – 2501E → A in AIP; severe decrease of deaminase activity. 2 Publications
VAR_003665
Natural varianti250 – 2501E → D in AIP; less than 1% of wild-type deaminase activity. 1 Publication
VAR_074155
Natural varianti250 – 2501E → K in AIP. 1 Publication
Corresponds to variant rs118204112 [ dbSNP | Ensembl ].
VAR_003666
Natural varianti250 – 2501E → Q in AIP.
VAR_011020
Natural varianti250 – 2501E → V in AIP.
VAR_011021
Natural varianti252 – 2521A → T in AIP. 1 Publication
Corresponds to variant rs118204113 [ dbSNP | Ensembl ].
VAR_003667
Natural varianti252 – 2521A → V in AIP. 1 Publication
Corresponds to variant rs118204114 [ dbSNP | Ensembl ].
VAR_003668
Natural varianti254 – 2541L → P in AIP. 1 Publication
VAR_025577
Natural varianti256 – 2561H → N in AIP. 1 Publication
Corresponds to variant rs118204115 [ dbSNP | Ensembl ].
VAR_003669
Natural varianti256 – 2561H → Y in AIP. 1 Publication
VAR_011022
Natural varianti260 – 2601G → D in AIP. 1 Publication
VAR_025578
Natural varianti261 – 2611C → Y in AIP. 1 Publication
VAR_025579
Natural varianti267 – 2671V → M in AIP.
VAR_011023
Natural varianti269 – 2691T → I in AIP. 2 Publications
VAR_003670
Natural varianti270 – 2701A → D in AIP.
VAR_011024
Natural varianti270 – 2701A → G in AIP. 1 Publication
VAR_011025
Natural varianti274 – 2741G → R in AIP. 1 Publication
VAR_003671
Natural varianti278 – 2781L → P in AIP. 1 Publication
VAR_003672
Natural varianti280 – 2801G → R in AIP.
VAR_003673
Natural varianti281 – 2811Missing in AIP. 1 Publication
VAR_011026
Natural varianti329 – 3324Missing in AIP. 1 Publication
VAR_011027
Natural varianti330 – 3301A → P in AIP. 1 Publication
VAR_074156
Natural varianti335 – 3351G → D in AIP. 1 Publication
VAR_011028
Natural varianti335 – 3351G → S in AIP; less than 3% of activity. 1 Publication
VAR_011029
Natural varianti338 – 3381L → P in AIP. 1 Publication
VAR_074157
Natural varianti343 – 3431L → P in AIP. 1 Publication
VAR_025580

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1717Missing in isoform 2 and isoform 4. 2 PublicationsVSP_002067Add
BLAST
Alternative sequencei218 – 25740Missing in isoform 3 and isoform 4. 1 PublicationVSP_047294Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated