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P08397

- HEM3_HUMAN

UniProt

P08397 - HEM3_HUMAN

Protein

Porphobilinogen deaminase

Gene

HMBS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 178 (01 Oct 2014)
      Sequence version 2 (01 Nov 1995)
      Previous versions | rss
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    Functioni

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

    Catalytic activityi

    4 porphobilinogen + H2O = hydroxymethylbilane + 4 NH3.

    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

    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 Curated

    GO - Cellular componenti

    1. cytosol Source: Reactome

    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.34 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 11Removed3 Publications
    Chaini2 – 361360Porphobilinogen deaminasePRO_0000143034Add
    BLAST

    Amino acid modifications

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

    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

    1
    361
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP08397.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the HMBS family.Curated

    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

    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
    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. 2 PublicationsVSP_002067Add
    BLAST
    Alternative sequencei218 – 25740Missing in isoform 3 and isoform 4. 1 PublicationVSP_047294Add
    BLAST

    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]
    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 ]
    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

    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: October 1, 2014
    This is version 178 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