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P08397

- HEM3_HUMAN

UniProt

P08397 - HEM3_HUMAN

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Protein
Porphobilinogen deaminase
Gene
HMBS, PBGD, UPS
Organism
Homo sapiens (Human)
Status
Reviewed - 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.UniRule annotation

Catalytic activityi

4 porphobilinogen + H2O = hydroxymethylbilane + 4 NH3.UniRule annotation

Cofactori

Binds 1 dipyrromethane group covalently.

Pathwayi

GO - Molecular functioni

  1. hydroxymethylbilane synthase activity Source: UniProtKB

GO - Biological processi

  1. heme biosynthetic process Source: UniProtKB
  2. peptidyl-pyrromethane cofactor linkage Source: InterPro
  3. porphyrin-containing compound metabolic process Source: Reactome
  4. protoporphyrinogen IX biosynthetic process Source: UniProtKB-UniPathway
  5. small molecule metabolic process Source: Reactome
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.
ReactomeiREACT_9465. 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:4982. HMBS.

Subcellular locationi

Cytoplasm Inferred UniRule annotation

GO - Cellular componenti

  1. cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Acute intermittent porphyria (AIP) [MIM:176000]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.34 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181M → I in AIP. 1 Publication
VAR_025558
Natural varianti22 – 221R → C in AIP. 2 Publications
VAR_003638
Natural varianti24 – 241G → S in AIP.
VAR_011001
Natural varianti26 – 261R → C in AIP. 3 Publications
VAR_011002
Natural varianti26 – 261R → H in AIP. 4 Publications
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
VAR_003640
Natural varianti34 – 341Q → K in AIP. 1 Publication
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
VAR_003642
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
VAR_025563
Natural varianti85 – 851L → R in AIP. 1 Publication
VAR_011009
Natural varianti86 – 861E → V in AIP. 1 Publication
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. 1 Publication
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. 9 Publications
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. 4 Publications
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. 1 Publication
VAR_003650
Natural varianti152 – 1521Missing in AIP. 1 Publication
VAR_009223
Natural varianti167 – 1671R → Q in AIP. 3 Publications
VAR_003651
Natural varianti167 – 1671R → W in AIP. 4 Publications
VAR_003652
Natural varianti173 – 1731R → Q in AIP; 0.6% of wild-type activity. 6 Publications
VAR_003653
Natural varianti173 – 1731R → W in AIP. 6 Publications
VAR_003654
Natural varianti177 – 1771L → R in AIP. 3 Publications
VAR_003655
Natural varianti178 – 1781D → N in AIP. 1 Publication
VAR_011012
Natural varianti195 – 1951R → C in AIP. 1 Publication
Corresponds to variant rs34413634 [ dbSNP | Ensembl ].
VAR_003656
Natural varianti201 – 2011R → W in AIP; residual activity. 4 Publications
VAR_003657
Natural varianti202 – 2021V → L in AIP. 1 Publication
VAR_011013
Natural varianti209 – 2091E → K in AIP.
VAR_011014
Natural varianti212 – 2121M → V in AIP; <2% residual activity. 1 Publication
VAR_025573
Natural varianti216 – 2161G → D in AIP. 1 Publication
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
VAR_003659
Natural varianti225 – 2251R → G in AIP. 1 Publication
VAR_003660
Natural varianti225 – 2251R → Q in AIP. 1 Publication
VAR_025574
Natural varianti236 – 2361G → S in AIP. 1 Publication
VAR_025575
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
VAR_003662
Natural varianti247 – 2471C → F in AIP; residual activity. 1 Publication
VAR_003663
Natural varianti247 – 2471C → R in AIP. 2 Publications
VAR_003664
Natural varianti248 – 2481I → IETLLRCI in AIP.
VAR_011019
Natural varianti250 – 2501E → A in AIP. 1 Publication
VAR_003665
Natural varianti250 – 2501E → K in AIP. 1 Publication
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
VAR_003667
Natural varianti252 – 2521A → V in AIP. 1 Publication
VAR_003668
Natural varianti254 – 2541L → P in AIP. 1 Publication
VAR_025577
Natural varianti256 – 2561H → N in AIP. 1 Publication
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.
VAR_011027
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 varianti343 – 3431L → P in AIP. 1 Publication
VAR_025580

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 361360Porphobilinogen deaminaseUniRule annotation
PRO_0000143034Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine3 Publications
Modified residuei74 – 741N6-acetyllysine By similarity
Modified residuei261 – 2611S-(dipyrrolylmethanemethyl)cysteineUniRule annotation

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP08397.
PaxDbiP08397.
PRIDEiP08397.

PTM databases

PhosphoSiteiP08397.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiP08397.
BgeeiP08397.
CleanExiHS_HMBS.
GenevestigatoriP08397.

Organism-specific databases

HPAiHPA006114.
HPA050659.

Interactioni

Protein-protein interaction databases

BioGridi109388. 2 interactions.
IntActiP08397. 1 interaction.
STRINGi9606.ENSP00000278715.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3ECRX-ray2.18A/B1-361[»]
3EQ1X-ray2.80A/B1-361[»]
ProteinModelPortaliP08397.
SMRiP08397. Positions 18-356.

Miscellaneous databases

EvolutionaryTraceiP08397.

Family & Domainsi

Sequence similaritiesi

Belongs to the HMBS family.

Phylogenomic databases

eggNOGiCOG0181.
HOGENOMiHOG000228587.
HOVERGENiHBG000967.
InParanoidiP08397.
KOiK01749.
OMAiNSPIAGH.
PhylomeDBiP08397.
TreeFamiTF105389.

Family and domain databases

Gene3Di3.30.160.40. 1 hit.
HAMAPiMF_00260. Porphobil_deam.
InterProiIPR000860. 4pyrrol_synth_OHMeBilane_synth.
IPR022419. Porphobilin_deaminase_cofac_BS.
IPR022417. Porphobilin_deaminase_N.
IPR022418. Porphobilinogen_deaminase_C.
[Graphical view]
PANTHERiPTHR11557. PTHR11557. 1 hit.
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. Align

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

MSGNGNAAAT AEENSPKMRV IRVGTRKSQL ARIQTDSVVA TLKASYPGLQ    50
FEIIAMSTTG DKILDTALSK IGEKSLFTKE LEHALEKNEV DLVVHSLKDL 100
PTVLPPGFTI GAICKRENPH DAVVFHPKFV GKTLETLPEK SVVGTSSLRR 150
AAQLQRKFPH LEFRSIRGNL NTRLRKLDEQ QEFSAIILAT AGLQRMGWHN 200
RVGQILHPEE CMYAVGQGAL GVEVRAKDQD ILDLVGVLHD PETLLRCIAE 250
RAFLRHLEGG CSVPVAVHTA MKDGQLYLTG GVWSLDGSDS IQETMQATIH 300
VPAQHEDGPE DDPQLVGITA RNIPRGPQLA AQNLGISLAN LLLSKGAKNI 350
LDVARQLNDA H 361
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

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
VAR_003638
Natural varianti24 – 241G → S in AIP.
VAR_011001
Natural varianti26 – 261R → C in AIP. 3 Publications
VAR_011002
Natural varianti26 – 261R → H in AIP. 4 Publications
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
VAR_003640
Natural varianti34 – 341Q → K in AIP. 1 Publication
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
VAR_003642
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
VAR_025563
Natural varianti85 – 851L → R in AIP. 1 Publication
VAR_011009
Natural varianti86 – 861E → V in AIP. 1 Publication
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. 1 Publication
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. 9 Publications
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. 4 Publications
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. 1 Publication
VAR_003650
Natural varianti152 – 1521Missing in AIP. 1 Publication
VAR_009223
Natural varianti167 – 1671R → Q in AIP. 3 Publications
VAR_003651
Natural varianti167 – 1671R → W in AIP. 4 Publications
VAR_003652
Natural varianti173 – 1731R → Q in AIP; 0.6% of wild-type activity. 6 Publications
VAR_003653
Natural varianti173 – 1731R → W in AIP. 6 Publications
VAR_003654
Natural varianti177 – 1771L → R in AIP. 3 Publications
VAR_003655
Natural varianti178 – 1781D → N in AIP. 1 Publication
VAR_011012
Natural varianti195 – 1951R → C in AIP. 1 Publication
Corresponds to variant rs34413634 [ dbSNP | Ensembl ].
VAR_003656
Natural varianti201 – 2011R → W in AIP; residual activity. 4 Publications
VAR_003657
Natural varianti202 – 2021V → L in AIP. 1 Publication
VAR_011013
Natural varianti209 – 2091E → K in AIP.
VAR_011014
Natural varianti212 – 2121M → V in AIP; <2% residual activity. 1 Publication
VAR_025573
Natural varianti216 – 2161G → D in AIP. 1 Publication
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
VAR_003659
Natural varianti225 – 2251R → G in AIP. 1 Publication
VAR_003660
Natural varianti225 – 2251R → Q in AIP. 1 Publication
VAR_025574
Natural varianti236 – 2361G → S in AIP. 1 Publication
VAR_025575
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
VAR_003662
Natural varianti247 – 2471C → F in AIP; residual activity. 1 Publication
VAR_003663
Natural varianti247 – 2471C → R in AIP. 2 Publications
VAR_003664
Natural varianti248 – 2481I → IETLLRCI in AIP.
VAR_011019
Natural varianti250 – 2501E → A in AIP. 1 Publication
VAR_003665
Natural varianti250 – 2501E → K in AIP. 1 Publication
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
VAR_003667
Natural varianti252 – 2521A → V in AIP. 1 Publication
VAR_003668
Natural varianti254 – 2541L → P in AIP. 1 Publication
VAR_025577
Natural varianti256 – 2561H → N in AIP. 1 Publication
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.
VAR_011027
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 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.
VSP_002067Add
BLAST
Alternative sequencei218 – 25740Missing in isoform 3 and isoform 4.
VSP_047294Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti177 – 1771L → M in AAA60029. 1 Publication
Sequence conflicti177 – 1771L → M in AAA60030. 1 Publication
Sequence conflicti210 – 2101E → K in CAA28499. 1 Publication
Sequence conflicti349 – 3491N → T in CAA27801. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
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]
ENST00000570821; ENSP00000458163; ENSG00000261883. [P08397-1]
ENST00000571030; ENSP00000461361; ENSG00000261883. [P08397-3]
ENST00000571563; ENSP00000458765; ENSG00000261883. [P08397-2]
ENST00000574152; ENSP00000458891; ENSG00000261883. [P08397-2]
ENST00000575587; ENSP00000460754; ENSG00000261883. [P08397-2]
ENST00000575888; ENSP00000461906; ENSG00000261883. [P08397-4]
GeneIDi3145.
KEGGihsa:3145.
UCSCiuc001puz.1. human. [P08397-1]
uc001pva.1. human.
uc001pve.2. human.

Polymorphism databases

DMDMi1170217.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS41726.1. [P08397-2 ]
CCDS58186.1. [P08397-3 ]
CCDS58187.1. [P08397-4 ]
CCDS8409.1. [P08397-1 ]
PIRi A45012. IBHUN.
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 ]
UniGenei Hs.82609.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3ECR X-ray 2.18 A/B 1-361 [» ]
3EQ1 X-ray 2.80 A/B 1-361 [» ]
ProteinModelPortali P08397.
SMRi P08397. Positions 18-356.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109388. 2 interactions.
IntActi P08397. 1 interaction.
STRINGi 9606.ENSP00000278715.

PTM databases

PhosphoSitei P08397.

Polymorphism databases

DMDMi 1170217.

Proteomic databases

MaxQBi P08397.
PaxDbi P08397.
PRIDEi P08397.

Protocols and materials databases

DNASUi 3145.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000278715 ; 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 ]
ENST00000570821 ; ENSP00000458163 ; ENSG00000261883 . [P08397-1 ]
ENST00000571030 ; ENSP00000461361 ; ENSG00000261883 . [P08397-3 ]
ENST00000571563 ; ENSP00000458765 ; ENSG00000261883 . [P08397-2 ]
ENST00000574152 ; ENSP00000458891 ; ENSG00000261883 . [P08397-2 ]
ENST00000575587 ; ENSP00000460754 ; ENSG00000261883 . [P08397-2 ]
ENST00000575888 ; ENSP00000461906 ; ENSG00000261883 . [P08397-4 ]
GeneIDi 3145.
KEGGi hsa:3145.
UCSCi uc001puz.1. human. [P08397-1 ]
uc001pva.1. human.
uc001pve.2. human.

Organism-specific databases

CTDi 3145.
GeneCardsi GC11P118955.
GeneReviewsi HMBS.
HGNCi HGNC:4982. HMBS.
HPAi HPA006114.
HPA050659.
MIMi 176000. phenotype.
609806. gene.
neXtProti NX_P08397.
Orphaneti 79276. Acute intermittent porphyria.
PharmGKBi PA29317.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0181.
HOGENOMi HOG000228587.
HOVERGENi HBG000967.
InParanoidi P08397.
KOi K01749.
OMAi NSPIAGH.
PhylomeDBi P08397.
TreeFami TF105389.

Enzyme and pathway databases

UniPathwayi UPA00251 ; UER00319 .
BioCyci MetaCyc:HS07607-MONOMER.
BRENDAi 2.5.1.61. 2681.
Reactomei REACT_9465. Heme biosynthesis.

Miscellaneous databases

EvolutionaryTracei P08397.
GeneWikii Porphobilinogen_deaminase.
GenomeRNAii 3145.
NextBioi 12464.
PROi P08397.
SOURCEi Search...

Gene expression databases

ArrayExpressi P08397.
Bgeei P08397.
CleanExi HS_HMBS.
Genevestigatori P08397.

Family and domain databases

Gene3Di 3.30.160.40. 1 hit.
HAMAPi MF_00260. Porphobil_deam.
InterProi IPR000860. 4pyrrol_synth_OHMeBilane_synth.
IPR022419. Porphobilin_deaminase_cofac_BS.
IPR022417. Porphobilin_deaminase_N.
IPR022418. Porphobilinogen_deaminase_C.
[Graphical view ]
PANTHERi PTHR11557. PTHR11557. 1 hit.
Pfami PF01379. Porphobil_deam. 1 hit.
PF03900. Porphobil_deamC. 1 hit.
[Graphical view ]
PIRSFi PIRSF001438. 4pyrrol_synth_OHMeBilane_synth. 1 hit.
PRINTSi PR00151. PORPHBDMNASE.
SUPFAMi SSF54782. SSF54782. 2 hits.
TIGRFAMsi TIGR00212. hemC. 1 hit.
PROSITEi PS00533. PORPHOBILINOGEN_DEAM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase."
    Raich N., Romeo P.-H., Dubart A., Beaupain D., Cohen-Solal M., Goossens M.
    Nucleic Acids Res. 14:5955-5968(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene."
    Grandchamp B., de Verneuil H., Beaumont C., Chretien S., Walter O., Nordmann Y.
    Eur. J. Biochem. 162:105-110(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene."
    Yoo H.-W., Warner C.A., Chen C.-H., Desnick R.J.
    Genomics 15:21-29(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
    Tissue: Colon.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain and Lung.
  8. "Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression."
    Chretien S., Dubart A., Beaupain D., Raich N., Grandchamp B., Rosa J., Goossens M., Romeo P.-H.
    Proc. Natl. Acad. Sci. U.S.A. 85:6-10(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-53, TISSUE SPECIFICITY.
  9. "Porphobilinogen deaminase in human erythrocytes: purification of two forms with apparent molecular weights of 40 kDa and 42 kDa."
    Lannfelt L., Wetterberg L., Lilius L., Thunell S., Joernvall H., Pavlu B., Wielburski A., Gellerfors P.
    Scand. J. Clin. Lab. Invest. 49:677-684(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 18-36 (ISOFORM 2).
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria."
    Gill R., Kolstoe S.E., Mohammed F., Al D-Bass A., Mosely J.E., Sarwar M., Cooper J.B., Wood S.P., Shoolingin-Jordan P.M.
    Biochem. J. 420:17-25(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.80 ANGSTROMS).
  15. "Structural insight into acute intermittent porphyria."
    Song G., Li Y., Cheng C., Zhao Y., Gao A., Zhang R., Joachimiak A., Shaw N., Liu Z.J.
    FASEB J. 23:396-404(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.18 ANGSTROMS), S-(DIPYRROLYLMETHANEMETHYL)CYSTEINE AT CYS-261.
  16. "Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria."
    Delfau M.H., Picat C., de Rooij F.W.M., Hamer K., Bogard M., Wilson J.H.P., Deybach J.-C., Nordmann Y., Grandchamp B.
    J. Clin. Invest. 86:1511-1516(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP GLN-167 AND GLN-173.
  17. "Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease."
    Delfau M.H., Picat C., de Rooij F.W.M., Voortman G., Deybach J.-C., Nordmann Y., Grandchamp B.
    Am. J. Hum. Genet. 49:421-428(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP GLN-149 AND ARG-245.
  18. "High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria."
    Gu X.-F., de Rooij F.W.M., Voortman G., Te Velde K., Nordmann Y., Grandchamp B.
    Am. J. Hum. Genet. 51:660-665(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AIP TRP-167.
  19. "Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA."
    Mgone C.S., Lanyon W.G., Moore M.R., Connor J.M.
    Hum. Genet. 90:12-16(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP LYS-34; GLN-167; ARG-177 AND ASN-256.
  20. "CRIM-positive mutations of acute intermittent porphyria in Finland."
    Kauppinen R., Peltonen L., Pihlaja H., Mustajoki P.
    Hum. Mutat. 1:392-396(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP TRP-167 AND GLN-173.
  21. "Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria."
    Mgone C.S., Lanyon W.G., Moore M.R., Louie G.V., Connor J.M.
    Hum. Genet. 92:619-622(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP ARG-247; THR-252 AND VAL-252.
  22. "Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase."
    Llewellyn D.H., Whatley S.D., Elder G.H.
    Hum. Mol. Genet. 2:1315-1316(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AIP HIS-26.
  23. "Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria."
    Gu X.-F., de Rooij F.W.M., de Baar E., Bruyland M., Lissens W., Nordmann Y., Grandchamp B.
    Hum. Mol. Genet. 2:1735-1736(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AIP ARG-111.
  24. "Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis."
    Gu X.-F., de Rooij F.W.M., Voortman G., Te Velde K., Deybach J.-C., Nordmann Y., Grandchamp B.
    Hum. Genet. 93:47-52(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP THR-31; SER-55; LEU-149; LYS-223 AND LYS-250.
  25. "Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles."
    Lundin G., Wedell A., Thunell S., Anvret M.
    Hum. Genet. 93:59-62(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AIP TRP-201.
  26. "Identification of five novel mutations in the porphobilinogen deaminase gene."
    Mgone C.S., Lanyon W.G., Moore M.R., Louie G.V., Connor J.M.
    Hum. Mol. Genet. 3:809-811(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP GLN-116; TRP-173; ARG-177; ILE-269 AND ARG-274.
  27. "Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene."
    Astrin K.N., Desnick R.J.
    Hum. Mutat. 4:243-252(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON AIP VARIANTS.
  28. "Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes 'variant acute intermittent porphyria' with normal expression of the erythroid-specific enzyme."
    Chen C.-H., Astrin K.H., Lee G., Anderson K.E., Desnick R.J.
    J. Clin. Invest. 94:1927-1937(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP PHE-93; TRP-116; TRP-201 AND PHE-247.
  29. "Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene."
    Kauppinen R., Mustajoki S., Pihlaja H., Peltonen L., Mustajoki P.
    Hum. Mol. Genet. 4:215-222(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP.
  30. "Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria."
    Lundin G., Hashemi J., Floderus Y., Thunell S., Sagen E., Laegreid A., Wassif W., Peters T., Anvret M.
    J. Med. Genet. 32:979-981(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP LEU-119 AND ALA-250.
  31. "Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria."
    Puy H., Deybach J.-C., Lamoril J., Robreau A.-M., Da Silva V., Gouya L., Grandchamp B., Nordmann Y.
    Am. J. Hum. Genet. 60:1373-1383(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP.
  32. "Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families."
    Lundin G., Lee J.-S., Thunell S., Anvret M.
    Hum. Genet. 100:63-66(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP TRP-116; LEU-119; GLN-167; TRP-167; TRP-173; TRP-201 AND ASP-216.
  33. "Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria."
    Mustajoki S., Pihlaja H., Ahola H., Petersen N.E., Mustajoki P., Kauppinen R.
    Hum. Genet. 102:541-548(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP MET-222 AND PRO-278.
  34. "Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria."
    Ong P.M., Lanyon W.G., Hift R.J., Halkett J., Cramp C.E., Moore M.R., Connor J.M.
    Hum. Hered. 48:24-29(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AIP CYS-22.
  35. "Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation."
    De Siervi A., Rossetti M.V., Parera V.E., Astrin K.H., Aizencang G.I., Glass I.A., Batlle A.M.C., Desnick R.J.
    Am. J. Med. Genet. 86:366-375(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP PRO-34; ARG-111; TRP-173; TRP-201; 329-LEU--GLN-332 DEL AND SER-335.
  36. "Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations."
    Whatley S.D., Woolf J.R., Elder G.H.
    Hum. Genet. 104:505-510(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP CYS-22; CYS-26; HIS-26; PRO-31; SER-42; ASN-61; ARG-85; GLY-90; ARG-111; GLN-173; TRP-173; ARG-177; CYS-195; ASP-219; ARG-247 AND ILE-269.
  37. "Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing acceptor site mutation (IVS8-1G>T)."
    De Siervi A., Mendez M., Parera V.E., Varela L., Batlle A.M.C., Rossetti M.V.
    Hum. Mutat. 14:355-355(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AIP ALA-152 DEL.
  38. "New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria."
    Gross U., Puy H., Doss M., Robreau A.-M., Nordmann Y., Doss M.O., Deybach J.-C.
    Mol. Cell. Probes 13:443-447(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP CYS-26 AND LEU-202.
  39. "Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP)."
    Solis C., Lopez-Echaniz I., Sefarty-Graneda D., Astrin K.H., Desnick R.J.
    Mol. Med. 5:664-671(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP ARG-111; TRP-116; TRP-167; TRP-173 AND VAL-212, CHARACTERIZATION OF VARIANT AIP VAL-212.
  40. "Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene."
    Ramdall R.B., Cunha L., Astrin K.H., Katz D.R., Anderson K.E., Glucksman M., Bottomley S.S., Desnick R.J.
    Genet. Med. 2:290-295(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP PRO-78; GLY-80; ARG-111 AND TRP-173.
  41. "Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms."
    Robreau-Fraolini A.M., Puy H., Aquaron C., Bogard C., Traore M., Nordmann Y., Aquaron R., Deybach J.-C.
    Hum. Genet. 107:150-159(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP TRP-116 AND GLY-270.
  42. "Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria."
    Schneider-Yin X., Bogard C., Rufenacht U.B., Puy H., Nordmann Y., Minder E.I., Deybach J.-C.
    Hum. Hered. 50:247-250(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AIP LEU-217.
  43. "Identification and characterization of two novel mutations that produce acute intermittent porphyria: a 3-base deletion (841-843delGGA) and a missense mutation (T35M)."
    De Siervi A., Weiss Cadiz D.E., Parera V.E., Batlle A.M.C., Rossetti M.V.
    Hum. Mutat. 16:373-373(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP MET-35; ARG-111 AND GLY-281 DEL.
  44. Erratum
    Martinez di Montemuros F., Di Pierro E., Fiorelli G., Cappellini M.D.
    Hum. Genet. 109:241-241(2001)
    Cited for: VARIANT AIP ASN-99.
  45. "Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families."
    Kauppinen R., von und zu Fraunberg M.
    Clin. Chem. 48:1891-1900(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP ILE-18; PHE-96; HIS-99; GLY-122; PRO-254 AND TYR-261.
  46. "Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene."
    Floderus Y., Shoolingin-Jordan P.M., Harper P.
    Clin. Genet. 62:288-297(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP CYS-26; HIS-26; VAL-86; PRO-92; GLY-99; ARG-111; THR-113; GLN-173; ASN-178; GLN-225; GLY-225; TYR-256; ASP-260 AND PRO-343.
  47. "Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria."
    Gregor A., Schneider-Yin X., Szlendak U., Wettstein A., Lipniacka A., Ruefenacht U.B., Minder E.I.
    Hum. Mutat. 19:310-310(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP HIS-26; TYR-61; VAL-93 DEL; ARG-111; GLN-173 AND ASP-335.
  48. "Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias."
    Gouya L., Puy H., Robreau A.-M., Lyoumi S., Lamoril J., Da Silva V., Grandchamp B., Deybach J.-C.
    Hum. Genet. 114:256-262(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP ARG-34; SER-236 AND PRO-244.
  49. "Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors."
    Hessels J., Voortman G., van der Wagen A., van der Elzen C., Scheffer H., Zuijderhoudt F.M.J.
    J. Inherit. Metab. Dis. 27:19-27(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AIP PRO-81.
  50. "Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs."
    Schneider-Yin X., Hergersberg M., Schuurmans M.M., Gregor A., Minder E.I.
    J. Inherit. Metab. Dis. 27:625-631(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AIP ARG-111 AND GLN-173.

Entry informationi

Entry nameiHEM3_HUMAN
AccessioniPrimary (citable) accession number: P08397
Secondary accession number(s): A8K2L0
, G3V1P4, G5EA58, P08396, Q16012
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: November 1, 1995
Last modified: September 3, 2014
This is version 177 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

The porphobilinogen subunits are added to the dipyrromethane group.

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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