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P10746

- HEM4_HUMAN

UniProt

P10746 - HEM4_HUMAN

Protein

Uroporphyrinogen-III synthase

Gene

UROS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 1 (01 Jul 1989)
      Previous versions | rss
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    Functioni

    Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).

    Catalytic activityi

    Hydroxymethylbilane = uroporphyrinogen III + H2O.1 Publication

    Pathwayi

    GO - Molecular functioni

    1. cofactor binding Source: Ensembl
    2. uroporphyrinogen-III synthase activity Source: UniProtKB

    GO - Biological processi

    1. cellular response to amine stimulus Source: Ensembl
    2. cellular response to arsenic-containing substance Source: Ensembl
    3. heme biosynthetic process Source: UniProtKB
    4. porphyrin-containing compound metabolic process Source: Reactome
    5. protoporphyrinogen IX biosynthetic process Source: UniProtKB-UniPathway
    6. response to antibiotic Source: Ensembl
    7. small molecule metabolic process Source: Reactome
    8. uroporphyrinogen III biosynthetic process Source: UniProtKB

    Keywords - Molecular functioni

    Lyase

    Keywords - Biological processi

    Heme biosynthesis, Porphyrin biosynthesis

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07569-MONOMER.
    ReactomeiREACT_9465. Heme biosynthesis.
    UniPathwayiUPA00251; UER00320.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Uroporphyrinogen-III synthase (EC:4.2.1.75)
    Short name:
    UROIIIS
    Short name:
    UROS
    Alternative name(s):
    Hydroxymethylbilane hydrolyase [cyclizing]
    Uroporphyrinogen-III cosynthase
    Gene namesi
    Name:UROS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:12592. UROS.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. mitochondrion Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    Congenital erythropoietic porphyria (CEP) [MIM:263700]: 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. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer.13 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31V → F in CEP; no residual activity. 1 Publication
    VAR_021615
    Natural varianti4 – 41L → F in CEP. 1 Publication
    VAR_003674
    Natural varianti19 – 191Y → C in CEP. 1 Publication
    VAR_003675
    Natural varianti47 – 471S → P in CEP; less than 3% wild-type activity; severe cutaneous lesions. 1 Publication
    VAR_021616
    Natural varianti53 – 531P → L in CEP; no detectable activity; severe phenotype. 1 Publication
    VAR_003676
    Natural varianti62 – 621T → A in CEP; no detectable activity according to PubMed:1737856, while it does not affect enzymatic activity according to PubMed:11689424. 1 Publication
    Corresponds to variant rs28941775 [ dbSNP | Ensembl ].
    VAR_003677
    Natural varianti66 – 661A → V in CEP; residual activity; mild phenotype. 1 Publication
    Corresponds to variant rs28941774 [ dbSNP | Ensembl ].
    VAR_003678
    Natural varianti69 – 691A → T in CEP; less than 2% wild-type activity; moderately-severe phenotype. 1 Publication
    VAR_021617
    Natural varianti73 – 731C → R in CEP; frequent mutation in Western countries; no detectable activity; severe phenotype. 5 Publications
    VAR_003679
    Natural varianti82 – 821V → F in CEP; high residual activity; mild phenotype. 1 Publication
    Corresponds to variant rs121908016 [ dbSNP | Ensembl ].
    VAR_003680
    Natural varianti99 – 991V → A in CEP. 1 Publication
    VAR_003681
    Natural varianti104 – 1041A → V in CEP; residual activity. 1 Publication
    VAR_003682
    Natural varianti129 – 1291I → T in CEP; no residual activity. 1 Publication
    VAR_021618
    Natural varianti188 – 1881G → R in CEP; less than 5% wild-type activity. 1 Publication
    VAR_013558
    Natural varianti188 – 1881G → W in CEP; less than 2% wild-type activity; mild phenotype. 1 Publication
    VAR_021619
    Natural varianti210 – 2112EL → HIQSQAQSQAQDN in CEP.
    VAR_021620
    Natural varianti212 – 2121S → P in CEP; no residual activity. 1 Publication
    VAR_003683
    Natural varianti219 – 2191I → S in CEP; less than 2% wild-type activity; moderately-severe phenotype. 1 Publication
    VAR_021621
    Natural varianti225 – 2251G → S in CEP. 1 Publication
    VAR_003684
    Natural varianti228 – 2281T → M in CEP; no detectable activity. 3 Publications
    VAR_003685
    Natural varianti237 – 2371L → P in CEP. 1 Publication
    VAR_067318
    Natural varianti248 – 2481P → Q in CEP. 1 Publication
    VAR_066247
    Severe congenital erythropoietic porphyria is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi63 – 631S → A: Does not affect enzymatic activity. 1 Publication
    Mutagenesisi65 – 651R → A: Slightly affects enzymatic activity. 1 Publication
    Mutagenesisi103 – 1031T → A: Slightly affects enzymatic activity. 1 Publication
    Mutagenesisi127 – 1271E → A: Does not affect enzymatic activity. 1 Publication
    Mutagenesisi168 – 1681Y → F: Impairs enzymatic activity. 1 Publication
    Mutagenesisi197 – 1971S → A: Does not affect enzymatic activity. 1 Publication
    Mutagenesisi220 – 2201K → A: Does not affect enzymatic activity. 1 Publication
    Mutagenesisi227 – 2271T → A: Does not affect enzymatic activity. 1 Publication
    Mutagenesisi228 – 2281T → A: Impairs enzymatic activity. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi263700. phenotype.
    Orphaneti79277. Congenital erythropoietic porphyria.
    PharmGKBiPA37222.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 265265Uroporphyrinogen-III synthasePRO_0000135251Add
    BLAST

    Proteomic databases

    MaxQBiP10746.
    PaxDbiP10746.
    PRIDEiP10746.

    PTM databases

    PhosphoSiteiP10746.

    Expressioni

    Tissue specificityi

    Ubiquitous.1 Publication

    Gene expression databases

    ArrayExpressiP10746.
    BgeeiP10746.
    CleanExiHS_UROS.
    GenevestigatoriP10746.

    Organism-specific databases

    HPAiHPA044038.

    Interactioni

    Subunit structurei

    Monomer.1 Publication

    Protein-protein interaction databases

    BioGridi113236. 3 interactions.
    IntActiP10746. 2 interactions.
    MINTiMINT-2863993.
    STRINGi9606.ENSP00000357775.

    Structurei

    Secondary structure

    1
    265
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi2 – 98
    Helixi18 – 247
    Turni25 – 273
    Beta strandi29 – 346
    Beta strandi36 – 405
    Helixi43 – 508
    Helixi53 – 553
    Beta strandi57 – 615
    Helixi64 – 7613
    Helixi80 – 867
    Helixi88 – 936
    Beta strandi94 – 985
    Helixi101 – 1099
    Helixi122 – 1309
    Beta strandi139 – 1446
    Helixi146 – 1483
    Helixi151 – 1566
    Turni157 – 1593
    Beta strandi162 – 1665
    Beta strandi168 – 1725
    Helixi176 – 18712
    Beta strandi191 – 1977
    Helixi198 – 21215
    Helixi213 – 2186
    Beta strandi219 – 2257
    Helixi226 – 2349
    Beta strandi240 – 2423
    Beta strandi244 – 2474
    Helixi248 – 25811

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1JR2X-ray1.84A/B1-265[»]
    ProteinModelPortaliP10746.
    SMRiP10746. Positions 1-260.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP10746.

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1587.
    HOGENOMiHOG000007209.
    HOVERGENiHBG000492.
    InParanoidiP10746.
    KOiK01719.
    OMAiDKGIAME.
    OrthoDBiEOG7K3TMH.
    PhylomeDBiP10746.
    TreeFamiTF324092.

    Family and domain databases

    InterProiIPR003754. 4pyrrol_synth_uPrphyn_synth.
    [Graphical view]
    PfamiPF02602. HEM4. 1 hit.
    [Graphical view]
    SUPFAMiSSF69618. SSF69618. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P10746-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKVLLLKDAK EDDCGQDPYI RELGLYGLEA TLIPVLSFEF LSLPSFSEKL    50
    SHPEDYGGLI FTSPRAVEAA ELCLEQNNKT EVWERSLKEK WNAKSVYVVG 100
    NATASLVSKI GLDTEGETCG NAEKLAEYIC SRESSALPLL FPCGNLKREI 150
    LPKALKDKGI AMESITVYQT VAHPGIQGNL NSYYSQQGVP ASITFFSPSG 200
    LTYSLKHIQE LSGDNIDQIK FAAIGPTTAR ALAAQGLPVS CTAESPTPQA 250
    LATGIRKALQ PHGCC 265
    Length:265
    Mass (Da):28,628
    Last modified:July 1, 1989 - v1
    Checksum:iCEF171401361F61E
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31V → F in CEP; no residual activity. 1 Publication
    VAR_021615
    Natural varianti4 – 41L → F in CEP. 1 Publication
    VAR_003674
    Natural varianti19 – 191Y → C in CEP. 1 Publication
    VAR_003675
    Natural varianti47 – 471S → P in CEP; less than 3% wild-type activity; severe cutaneous lesions. 1 Publication
    VAR_021616
    Natural varianti53 – 531P → L in CEP; no detectable activity; severe phenotype. 1 Publication
    VAR_003676
    Natural varianti62 – 621T → A in CEP; no detectable activity according to PubMed:1737856, while it does not affect enzymatic activity according to PubMed:11689424. 1 Publication
    Corresponds to variant rs28941775 [ dbSNP | Ensembl ].
    VAR_003677
    Natural varianti66 – 661A → V in CEP; residual activity; mild phenotype. 1 Publication
    Corresponds to variant rs28941774 [ dbSNP | Ensembl ].
    VAR_003678
    Natural varianti69 – 691A → T in CEP; less than 2% wild-type activity; moderately-severe phenotype. 1 Publication
    VAR_021617
    Natural varianti73 – 731C → R in CEP; frequent mutation in Western countries; no detectable activity; severe phenotype. 5 Publications
    VAR_003679
    Natural varianti82 – 821V → F in CEP; high residual activity; mild phenotype. 1 Publication
    Corresponds to variant rs121908016 [ dbSNP | Ensembl ].
    VAR_003680
    Natural varianti99 – 991V → A in CEP. 1 Publication
    VAR_003681
    Natural varianti104 – 1041A → V in CEP; residual activity. 1 Publication
    VAR_003682
    Natural varianti124 – 1241K → R.
    Corresponds to variant rs17153561 [ dbSNP | Ensembl ].
    VAR_049345
    Natural varianti129 – 1291I → T in CEP; no residual activity. 1 Publication
    VAR_021618
    Natural varianti171 – 1711V → G.
    Corresponds to variant rs17173752 [ dbSNP | Ensembl ].
    VAR_049346
    Natural varianti188 – 1881G → R in CEP; less than 5% wild-type activity. 1 Publication
    VAR_013558
    Natural varianti188 – 1881G → W in CEP; less than 2% wild-type activity; mild phenotype. 1 Publication
    VAR_021619
    Natural varianti210 – 2112EL → HIQSQAQSQAQDN in CEP.
    VAR_021620
    Natural varianti212 – 2121S → P in CEP; no residual activity. 1 Publication
    VAR_003683
    Natural varianti219 – 2191I → S in CEP; less than 2% wild-type activity; moderately-severe phenotype. 1 Publication
    VAR_021621
    Natural varianti225 – 2251G → S in CEP. 1 Publication
    VAR_003684
    Natural varianti228 – 2281T → M in CEP; no detectable activity. 3 Publications
    VAR_003685
    Natural varianti237 – 2371L → P in CEP. 1 Publication
    VAR_067318
    Natural varianti248 – 2481P → Q in CEP. 1 Publication
    VAR_066247

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J03824 mRNA. Translation: AAA60273.1.
    AF230665 mRNA. Translation: AAG36795.1.
    AH010036 Genomic DNA. Translation: AAG36794.1.
    AK314896 mRNA. Translation: BAG37410.1.
    AL360176 Genomic DNA. Translation: CAI12087.1.
    CH471066 Genomic DNA. Translation: EAW49221.1.
    CH471066 Genomic DNA. Translation: EAW49222.1.
    BC002573 mRNA. Translation: AAH02573.1.
    CCDSiCCDS7648.1.
    PIRiA40483.
    RefSeqiNP_000366.1. NM_000375.2.
    UniGeneiHs.501376.

    Genome annotation databases

    EnsembliENST00000368786; ENSP00000357775; ENSG00000188690.
    ENST00000368797; ENSP00000357787; ENSG00000188690.
    GeneIDi7390.
    KEGGihsa:7390.
    UCSCiuc001liw.4. human.

    Polymorphism databases

    DMDMi122849.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J03824 mRNA. Translation: AAA60273.1 .
    AF230665 mRNA. Translation: AAG36795.1 .
    AH010036 Genomic DNA. Translation: AAG36794.1 .
    AK314896 mRNA. Translation: BAG37410.1 .
    AL360176 Genomic DNA. Translation: CAI12087.1 .
    CH471066 Genomic DNA. Translation: EAW49221.1 .
    CH471066 Genomic DNA. Translation: EAW49222.1 .
    BC002573 mRNA. Translation: AAH02573.1 .
    CCDSi CCDS7648.1.
    PIRi A40483.
    RefSeqi NP_000366.1. NM_000375.2.
    UniGenei Hs.501376.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1JR2 X-ray 1.84 A/B 1-265 [» ]
    ProteinModelPortali P10746.
    SMRi P10746. Positions 1-260.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113236. 3 interactions.
    IntActi P10746. 2 interactions.
    MINTi MINT-2863993.
    STRINGi 9606.ENSP00000357775.

    Chemistry

    ChEMBLi CHEMBL4433.

    PTM databases

    PhosphoSitei P10746.

    Polymorphism databases

    DMDMi 122849.

    Proteomic databases

    MaxQBi P10746.
    PaxDbi P10746.
    PRIDEi P10746.

    Protocols and materials databases

    DNASUi 7390.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368786 ; ENSP00000357775 ; ENSG00000188690 .
    ENST00000368797 ; ENSP00000357787 ; ENSG00000188690 .
    GeneIDi 7390.
    KEGGi hsa:7390.
    UCSCi uc001liw.4. human.

    Organism-specific databases

    CTDi 7390.
    GeneCardsi GC10M127467.
    GeneReviewsi UROS.
    HGNCi HGNC:12592. UROS.
    HPAi HPA044038.
    MIMi 263700. phenotype.
    606938. gene.
    neXtProti NX_P10746.
    Orphaneti 79277. Congenital erythropoietic porphyria.
    PharmGKBi PA37222.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1587.
    HOGENOMi HOG000007209.
    HOVERGENi HBG000492.
    InParanoidi P10746.
    KOi K01719.
    OMAi DKGIAME.
    OrthoDBi EOG7K3TMH.
    PhylomeDBi P10746.
    TreeFami TF324092.

    Enzyme and pathway databases

    UniPathwayi UPA00251 ; UER00320 .
    BioCyci MetaCyc:HS07569-MONOMER.
    Reactomei REACT_9465. Heme biosynthesis.

    Miscellaneous databases

    EvolutionaryTracei P10746.
    GenomeRNAii 7390.
    NextBioi 28934.
    PROi P10746.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P10746.
    Bgeei P10746.
    CleanExi HS_UROS.
    Genevestigatori P10746.

    Family and domain databases

    InterProi IPR003754. 4pyrrol_synth_uPrphyn_synth.
    [Graphical view ]
    Pfami PF02602. HEM4. 1 hit.
    [Graphical view ]
    SUPFAMi SSF69618. SSF69618. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA."
      Tsai S.-F., Bishop D.F., Desnick R.J.
      Proc. Natl. Acad. Sci. U.S.A. 85:7049-7053(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE.
    2. "Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression."
      Aizencang G., Solis C., Bishop D.F., Warner C., Desnick R.J.
      Genomics 70:223-231(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY.
      Tissue: Liver.
    3. "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].
      Tissue: Cerebellum.
    4. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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].
      Tissue: Brain.
    7. "Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene."
      Xu W., Astrin K.H., Desnick R.J.
      Hum. Mutat. 7:187-192(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    8. Cited for: X-RAY CRYSTALLOGRAPHY (1.84 ANGSTROMS), CATALYTIC ACTIVITY, SUBUNIT, MUTAGENESIS OF SER-63; ARG-65; THR-103; GLU-127; TYR-168; SER-197; LYS-220; THR-227 AND THR-228, CHARACTERIZATION OF VARIANT ALA-62.
    9. "Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease)."
      Deybach J.-C., de Verneuil H., Boulechfar S., Grandchamp B., Nordmann Y.
      Blood 75:1763-1765(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CEP LEU-53 AND ARG-73.
    10. "Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria."
      Boulechfar S., da Silva V., Deybach J.-C., Nordmann Y., Grandchamp B., de Verneuil H.
      Hum. Genet. 88:320-324(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CEP PHE-4; ARG-73 AND MET-228.
    11. "Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene."
      Warner C.A., Yoo H.-W., Roberts A.G., Desnick R.J.
      J. Clin. Invest. 89:693-700(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CEP ALA-62; VAL-66; ARG-73 AND MET-228.
    12. "Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene."
      Xu W., Warner C.A., Desnick R.J.
      J. Clin. Invest. 95:905-912(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CEP CYS-19; PHE-82; ALA-99; VAL-104 AND SER-225.
    13. "A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family."
      Tanigawa K., Bensidhoum M., Takamura N., Namba H., Yamashita S., de Verneuil H., Ged C.
      Hum. Genet. 97:557-560(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CEP PRO-212.
    14. "Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family."
      Takamura N., Hombrados I., Tanigawa K., Namba H., Nagayama Y., de Verneuil H., Yamashita S.
      Am. J. Med. Genet. 70:299-302(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CEP PHE-3, CHARACTERIZATION OF VARIANT CEP PHE-3.
    15. "Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation."
      Tezcan I., Xu W., Gurgey A., Tuncer M., Cetin M., Oener C., Yetgin S., Ersoy F., Aizencang G., Astrin K.H., Desnick R.J.
      Blood 92:4053-4058(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CEP ARG-188.
    16. "C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria."
      Frank J., Wang X., Lam H.M., Aita V.M., Jugert F.K., Goerz G., Merk H.F., Poh-Fitzpatrick M.B., Christiano A.M.
      Ann. Hum. Genet. 62:225-230(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CEP ARG-73.
    17. Cited for: VARIANT CEP THR-129, CHARACTERIZATION OF VARIANT CEP THR-129.
    18. "Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene."
      Shady A.A., Colby B.R., Cunha L.F., Astrin K.H., Bishop D.F., Desnick R.J.
      Br. J. Haematol. 117:980-987(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CEP THR-69; ARG-73; TRP-188; 210-GLU-LEU-211 DELINS HIS-ILE-GLN-SER-GLN-ALA-GLN-SER-GLN-ALA-GLN-ASP-ASN; SER-219 AND MET-228, CHARACTERIZATION OF VARIANTS CEP THR-69; TRP-188 AND SER-219.
    19. "Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling."
      Ged C., Megarbane H., Chouery E., Lalanne M., Megarbane A., de Verneuil H.
      J. Invest. Dermatol. 123:589-591(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CEP PRO-47, CHARACTERIZATION OF VARIANT CEP PRO-47.
    20. Cited for: VARIANT CEP GLN-248.
    21. "Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria."
      Moghbeli M., Maleknejad M., Arabi A., Abbaszadegan M.R.
      Mol. Biol. Rep. 39:6731-6735(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CEP PRO-237.

    Entry informationi

    Entry nameiHEM4_HUMAN
    AccessioniPrimary (citable) accession number: P10746
    Secondary accession number(s): B2RC13, D3DRF7, Q9H2T1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1989
    Last sequence update: July 1, 1989
    Last modified: October 1, 2014
    This is version 145 of the entry and version 1 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

    Keywords - Technical termi

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

    Documents

    1. Human chromosome 10
      Human chromosome 10: 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