Urod uroporphyrinogen decarboxylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Urodprovided by MGI
Official Full Name: uroporphyrinogen decarboxylaseprovided by MGI
Primary source: MGI:MGI:98916
See related: Ensembl:ENSMUSG00000028684 AllianceGenome:MGI:98916
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: UPD; Uro-d
Summary: This gene encodes an enzyme that catalyzes the conversion of uroporphyrinogen-III to coproporphyrinogen-III, an intermediate step in heme biosynthesis. Homozygous knockout mice for this gene exhibit embryonic lethality. [provided by RefSeq, Aug 2015]
Expression: Broad expression in liver E14.5 (RPKM 225.2), liver E14 (RPKM 197.6) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D1; 4 53.41 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (116847161..116851561, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (116989965..116994436, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

accelerated development of uroporphyria in mice heterozygous for deletion at uroporphyrinogen locus
Title: Accelerated development of uroporphyria in mice heterozygous for a deletion at the uroporphyrinogen decarboxylase locus.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables carboxy-lyase activity	IEA Inferred from Electronic Annotation more info
enables ferrous iron binding	ISO Inferred from Sequence Orthology more info
enables lyase activity	IEA Inferred from Electronic Annotation more info
enables uroporphyrinogen decarboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables uroporphyrinogen decarboxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables uroporphyrinogen decarboxylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables uroporphyrinogen decarboxylase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in heme A biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme B biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme O biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heme biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heme metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in porphyrin-containing compound biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in porphyrin-containing compound catabolic process	ISO Inferred from Sequence Orthology more info
involved_in porphyrin-containing compound metabolic process	ISO Inferred from Sequence Orthology more info
involved_in uroporphyrinogen III metabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: uroporphyrinogen decarboxylase

NP_001412793.1

EC 4.1.1.37

NP_001412794.1

EC 4.1.1.37

NP_001412795.1

EC 4.1.1.37

NP_001412796.1

EC 4.1.1.37

NP_001412797.1

EC 4.1.1.37

NP_001412798.1

EC 4.1.1.37

NP_001412799.1

EC 4.1.1.37

NP_001412800.1

EC 4.1.1.37

NP_001412801.1

EC 4.1.1.37

NP_001412802.1

EC 4.1.1.37

NP_033504.2

EC 4.1.1.37

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001425864.1 → NP_001412793.1 uroporphyrinogen decarboxylase isoform 2

Status: REVIEWED

Source sequence(s)

AL671671
NM_001425865.1 → NP_001412794.1 uroporphyrinogen decarboxylase isoform 3

Status: REVIEWED

Source sequence(s)

AL671671
NM_001425866.1 → NP_001412795.1 uroporphyrinogen decarboxylase isoform 4

Status: REVIEWED

Source sequence(s)

AL671671
NM_001425867.1 → NP_001412796.1 uroporphyrinogen decarboxylase isoform 5

Status: REVIEWED

Source sequence(s)

AL671671
NM_001425868.1 → NP_001412797.1 uroporphyrinogen decarboxylase isoform 6

Status: REVIEWED

Source sequence(s)

AL671671
NM_001425869.1 → NP_001412798.1 uroporphyrinogen decarboxylase isoform 6

Status: REVIEWED

Source sequence(s)

AL671671
NM_001425870.1 → NP_001412799.1 uroporphyrinogen decarboxylase isoform 6

Status: REVIEWED

Source sequence(s)

AL671671
NM_001425871.1 → NP_001412800.1 uroporphyrinogen decarboxylase isoform 6

Status: REVIEWED

Source sequence(s)

AL671671
NM_001425872.1 → NP_001412801.1 uroporphyrinogen decarboxylase isoform 6

Status: REVIEWED

Source sequence(s)

AL671671
NM_001425873.1 → NP_001412802.1 uroporphyrinogen decarboxylase isoform 7

Status: REVIEWED

Source sequence(s)

AL671671
NM_009478.5 → NP_033504.2 uroporphyrinogen decarboxylase isoform 1

See identical proteins and their annotated locations for NP_033504.2

Status: REVIEWED

Source sequence(s)

AL671671

Consensus CDS

CCDS18521.1

UniProtKB/Swiss-Prot

P70697, Q91VW4

Related

ENSMUSP00000030446.9, ENSMUST00000030446.15

Conserved Domains (1) summary

cd00717
Location:20 → 359

URO-D; Uroporphyrinogen decarboxylase (URO-D) is a dimeric cytosolic enzyme that decarboxylates the four acetate side chains of uroporphyrinogen III (uro-III) to create coproporphyrinogen III, without requiring any prosthetic groups or cofactors. This reaction ...