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UROS uroporphyrinogen III synthase [ Homo sapiens (human) ]

Gene ID: 7390, updated on 8-Jul-2021

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
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
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Genomic context

See UROS in Genome Data Viewer
Location:
10q26.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (125784980..125823280, complement)
105.20201022 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 matrix metallopeptidase 21 Neighboring gene microRNA 4484 Neighboring gene BRCA2 and CDKN1A interacting protein Neighboring gene DEAH-box helicase 32 (putative) Neighboring gene RNA, U2 small nuclear 42, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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

Homology

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
PubMed 
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 biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 antibiotic 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
PubMed 
involved_in uroporphyrinogen III biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
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

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
    P10746
    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
    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
    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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    125784980..125823280 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540127.2XP_011538429.1  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 ...
  2. XM_017016612.2XP_016872101.1  uroporphyrinogen-III synthase isoform X3

    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_024448154.1XP_024303922.1  uroporphyrinogen-III synthase isoform X2

    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 ...
  4. XM_017016611.2XP_016872100.2  uroporphyrinogen-III synthase isoform X1

    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 ...
  5. XM_024448155.1XP_024303923.1  uroporphyrinogen-III synthase isoform X6

    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 ...
  6. XM_005270140.5XP_005270197.1  uroporphyrinogen-III synthase isoform X5

    See identical proteins and their annotated locations for XP_005270197.1

    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 ...

RNA

  1. XR_002957010.1 RNA Sequence

  2. XR_246103.3 RNA Sequence

  3. XR_945810.2 RNA Sequence

  4. XR_002957009.1 RNA Sequence

  5. XR_001747196.2 RNA Sequence

  6. XR_001747197.2 RNA Sequence

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