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    UROS uroporphyrinogen III synthase [ Homo sapiens (human) ]

    Gene ID: 7390, updated on 10-Dec-2024

    Summary

    Official Symbol
    UROSprovided by HGNC
    Official Full Name
    uroporphyrinogen III synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:12592
    See related
    Ensembl:ENSG00000188690 MIM:606938; AllianceGenome:HGNC:12592
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UROIIIS
    Summary
    The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.5), brain (RPKM 4.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UROS in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (125784980..125823258, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (126667433..126705738, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127473549..127511827, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene erythroid differentiation regulatory factor 1 Neighboring gene EDRF1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6903 Neighboring gene matrix metallopeptidase 21 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2924 Neighboring gene CRISPRi-validated UROS cis-regulatory element Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:127511755-127512440 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127512660-127512879 Neighboring gene microRNA 4484 Neighboring gene BRCA2 and CDKN1A interacting protein Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127541940-127542119 Neighboring gene DEAH-box helicase 32 (putative) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:127569451-127570173 Neighboring gene Sharpr-MPRA regulatory region 1957 Neighboring gene RNA, U2 small nuclear 42, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables folic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables uroporphyrinogen-III synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables uroporphyrinogen-III synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables uroporphyrinogen-III synthase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to amine stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to arsenic-containing substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme A biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme B biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme O biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heme biosynthetic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in heme biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heme biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to platinum ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in uroporphyrinogen III biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in uroporphyrinogen III biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    uroporphyrinogen-III synthase
    Names
    hydroxymethylbilane hydrolyase
    uroporphyrinogen-III cosynthase
    NP_000366.1
    NP_001310965.1
    NP_001310966.1
    NP_001310967.1
    NP_001310968.1
    XP_005270197.1
    XP_011538429.1
    XP_016872100.2
    XP_016872101.1
    XP_024303922.1
    XP_024303923.1
    XP_047281664.1
    XP_047281665.1
    XP_047281666.1
    XP_047281667.1
    XP_054222649.1
    XP_054222650.1
    XP_054222651.1
    XP_054222652.1
    XP_054222653.1
    XP_054222654.1
    XP_054222655.1
    XP_054222656.1
    XP_054222657.1
    XP_054222658.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011557.2 RefSeqGene

      Range
      5011..39683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1081

    mRNA and Protein(s)

    1. NM_000375.3NP_000366.1  uroporphyrinogen-III synthase isoform 2

      See identical proteins and their annotated locations for NP_000366.1

      Status: REVIEWED

      Source sequence(s)
      BC002573, DR156879
      Consensus CDS
      CCDS7648.1
      UniProtKB/Swiss-Prot
      B2RC13, D3DRF7, P10746, Q9H2T1
      UniProtKB/TrEMBL
      A0A0S2Z4T8
      Related
      ENSP00000357787.4, ENST00000368797.10
      Conserved Domains (1) summary
      cd06578
      Location:3255
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    2. NM_001324036.2NP_001310965.1  uroporphyrinogen-III synthase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL360176
      Consensus CDS
      CCDS91372.1
      UniProtKB/TrEMBL
      A0A3B3ISM6
      Conserved Domains (1) summary
      cd06578
      Location:3282
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    3. NM_001324037.2NP_001310966.1  uroporphyrinogen-III synthase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL360176
      Consensus CDS
      CCDS91371.1
      UniProtKB/TrEMBL
      A0A3B3ITJ2
      Related
      ENSP00000497817.1, ENST00000649536.1
      Conserved Domains (1) summary
      cd06578
      Location:3255
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    4. NM_001324038.2NP_001310967.1  uroporphyrinogen-III synthase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL360176
      UniProtKB/TrEMBL
      A0A0S2Z5C5
      Conserved Domains (1) summary
      cd06578
      Location:3228
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    5. NM_001324039.2NP_001310968.1  uroporphyrinogen-III synthase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL360176
      Consensus CDS
      CCDS81522.1
      UniProtKB/TrEMBL
      D3DRF8, Q5T3L7, Q5T3L8
      Related
      ENSP00000357767.3, ENST00000368778.7
      Conserved Domains (1) summary
      cd06578
      Location:3130
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...

    RNA

    1. NR_136675.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL360176
    2. NR_136676.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL360176
    3. NR_136677.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL360176
    4. NR_136678.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL360176, BI668388

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      125784980..125823258 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540127.3XP_011538429.1  uroporphyrinogen-III synthase isoform X5

      Conserved Domains (1) summary
      cd06578
      Location:3221
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    2. XM_017016612.3XP_016872101.1  uroporphyrinogen-III synthase isoform X4

      Conserved Domains (1) summary
      cd06578
      Location:3221
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    3. XM_047425708.1XP_047281664.1  uroporphyrinogen-III synthase isoform X3

      UniProtKB/TrEMBL
      A0A3B3ITJ2
    4. XM_024448154.2XP_024303922.1  uroporphyrinogen-III synthase isoform X2

      UniProtKB/Swiss-Prot
      B2RC13, D3DRF7, P10746, Q9H2T1
      UniProtKB/TrEMBL
      A0A0S2Z4T8
      Related
      ENSP00000357775.1, ENST00000368786.5
      Conserved Domains (1) summary
      cd06578
      Location:3255
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    5. XM_017016611.3XP_016872100.2  uroporphyrinogen-III synthase isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISM6
      Related
      ENSP00000497366.1, ENST00000650587.1
      Conserved Domains (1) summary
      cd06578
      Location:3282
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    6. XM_047425709.1XP_047281665.1  uroporphyrinogen-III synthase isoform X6

      UniProtKB/TrEMBL
      Q5T3L9
    7. XM_024448155.2XP_024303923.1  uroporphyrinogen-III synthase isoform X7

      UniProtKB/TrEMBL
      Q5T3L9
      Conserved Domains (1) summary
      cd06578
      Location:3193
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    8. XM_005270140.6XP_005270197.1  uroporphyrinogen-III synthase isoform X6

      See identical proteins and their annotated locations for XP_005270197.1

      UniProtKB/TrEMBL
      Q5T3L9
      Related
      ENSP00000414833.1, ENST00000420761.5
      Conserved Domains (1) summary
      cd06578
      Location:3220
      HemD; Uroporphyrinogen-III synthase (HemD) catalyzes the asymmetrical cyclization of tetrapyrrole (linear) to uroporphyrinogen-III, the fourth step in the biosynthesis of heme. This ubiquitous enzyme is present in eukaryotes, bacteria and archaea. Mutations in ...
    9. XM_047425710.1XP_047281666.1  uroporphyrinogen-III synthase isoform X8

      UniProtKB/TrEMBL
      A0A3B3ISL9
      Related
      ENSP00000497494.1, ENST00000648119.1
    10. XM_047425711.1XP_047281667.1  uroporphyrinogen-III synthase isoform X9

      UniProtKB/TrEMBL
      D3DRF8, Q5T3L7, Q5T3L8

    RNA

    1. XR_007061985.1 RNA Sequence

    2. XR_001747196.3 RNA Sequence

    3. XR_007061986.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      126667433..126705738 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366678.1XP_054222653.1  uroporphyrinogen-III synthase isoform X5

    2. XM_054366677.1XP_054222652.1  uroporphyrinogen-III synthase isoform X4

    3. XM_054366675.1XP_054222650.1  uroporphyrinogen-III synthase isoform X2

    4. XM_054366676.1XP_054222651.1  uroporphyrinogen-III synthase isoform X3

    5. XM_054366674.1XP_054222649.1  uroporphyrinogen-III synthase isoform X1

    6. XM_054366680.1XP_054222655.1  uroporphyrinogen-III synthase isoform X6

      UniProtKB/TrEMBL
      Q5T3L9
    7. XM_054366681.1XP_054222656.1  uroporphyrinogen-III synthase isoform X7

      UniProtKB/TrEMBL
      Q5T3L9
    8. XM_054366679.1XP_054222654.1  uroporphyrinogen-III synthase isoform X6

      UniProtKB/TrEMBL
      Q5T3L9
    9. XM_054366682.1XP_054222657.1  uroporphyrinogen-III synthase isoform X8

      UniProtKB/TrEMBL
      A0A3B3ISL9
    10. XM_054366683.1XP_054222658.1  uroporphyrinogen-III synthase isoform X9

      UniProtKB/TrEMBL
      Q5T3L7

    RNA

    1. XR_008488261.1 RNA Sequence

    2. XR_008488260.1 RNA Sequence

    3. XR_008488262.1 RNA Sequence