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P10746

- HEM4_HUMAN

UniProt

P10746 - HEM4_HUMAN

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Protein

Uroporphyrinogen-III synthase

Gene

UROS

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

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
Complete GO annotation...

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
Complete GO annotation...

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. 1 Publication
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

BgeeiP10746.
CleanExiHS_UROS.
ExpressionAtlasiP10746. baseline and differential.
GenevestigatoriP10746.

Organism-specific databases

HPAiHPA044038.

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi113236. 11 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 – 98Combined sources
Helixi18 – 247Combined sources
Turni25 – 273Combined sources
Beta strandi29 – 346Combined sources
Beta strandi36 – 405Combined sources
Helixi43 – 508Combined sources
Helixi53 – 553Combined sources
Beta strandi57 – 615Combined sources
Helixi64 – 7613Combined sources
Helixi80 – 867Combined sources
Helixi88 – 936Combined sources
Beta strandi94 – 985Combined sources
Helixi101 – 1099Combined sources
Helixi122 – 1309Combined sources
Beta strandi139 – 1446Combined sources
Helixi146 – 1483Combined sources
Helixi151 – 1566Combined sources
Turni157 – 1593Combined sources
Beta strandi162 – 1665Combined sources
Beta strandi168 – 1725Combined sources
Helixi176 – 18712Combined sources
Beta strandi191 – 1977Combined sources
Helixi198 – 21215Combined sources
Helixi213 – 2186Combined sources
Beta strandi219 – 2257Combined sources
Helixi226 – 2349Combined sources
Beta strandi240 – 2423Combined sources
Beta strandi244 – 2474Combined sources
Helixi248 – 25811Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00390000009853.
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

        10         20         30         40         50
MKVLLLKDAK EDDCGQDPYI RELGLYGLEA TLIPVLSFEF LSLPSFSEKL
60 70 80 90 100
SHPEDYGGLI FTSPRAVEAA ELCLEQNNKT EVWERSLKEK WNAKSVYVVG
110 120 130 140 150
NATASLVSKI GLDTEGETCG NAEKLAEYIC SRESSALPLL FPCGNLKREI
160 170 180 190 200
LPKALKDKGI AMESITVYQT VAHPGIQGNL NSYYSQQGVP ASITFFSPSG
210 220 230 240 250
LTYSLKHIQE LSGDNIDQIK FAAIGPTTAR ALAAQGLPVS CTAESPTPQA
260
LATGIRKALQ PHGCC
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. 1 Publication
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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. 11 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.
GeneTreei ENSGT00390000009853.
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

Bgeei P10746.
CleanExi HS_UROS.
ExpressionAtlasi P10746. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 147 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

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