Alad aminolevulinate, delta-, dehydratase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aladprovided by MGI
Official Full Name: aminolevulinate, delta-, dehydrataseprovided by MGI
Primary source: MGI:MGI:96853
See related: Ensembl:ENSMUSG00000028393 AllianceGenome:MGI:96853
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Lv; ALADH
Summary: Enables identical protein binding activity and porphobilinogen synthase activity. Acts upstream of or within cellular response to interleukin-4 and heme biosynthetic process. Predicted to be located in extracellular space. Predicted to be active in cytosol. Is expressed in several structures, including liver; lung; metanephros; spleen; and yolk sac. Human ortholog(s) of this gene implicated in porphyria cutanea tarda and sickle cell anemia. Orthologous to human ALAD (aminolevulinate dehydratase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver E14.5 (RPKM 66.3), liver E14 (RPKM 56.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B3; 4 33.17 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (62424221..62438300, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (62505984..62520063, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

this study demonstrated for the first time the involvement of striatal delta-ALA-D activity in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model and its correlation with the MPO activity.
Title: δ-Aminolevulinate Dehydratase Activity is Stimulated in a MPTP Mouse Model of Parkinson's Disease: Correlation with Myeloperoxidase Activity.
Similar to its role at the beta-globin promoter, KLF1 induces factor recruitment and chromatin changes at the Alad1b promoter in a temporally-specific manner
Title: Regulation of delta-aminolevulinic acid dehydratase by krüppel-like factor 1.
The data supports the hypothesis that ALAD, an important enzyme for heme synthesis, is also important as a proteasome interacting protein.
Title: Delta-aminolevulinic dehydratase is a proteasome interacting protein.
Delta-ALA-D from D. melanogaster and M.musculus has a different profile of optimum pH and different sensitivity for diphenyl diselenide and lead, two inhibitors.
Title: Diphenyl diselenide [(PhSe)2] inhibits Drosophila melanogaster delta-aminolevulinate dehydratase (delta-ALA-D) gene transcription and enzyme activity.

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Variation

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Alleles

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

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the Alad gene: The Alad gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 498 organisms have orthologs with human gene Alad
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables lyase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables porphobilinogen synthase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables porphobilinogen synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables porphobilinogen synthase activity	ISO Inferred from Sequence Orthology more info
enables proteasome core complex binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to interleukin-4	IDA Inferred from Direct Assay more info	PubMed
involved_in heme biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within heme biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heme biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of proteasomal protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within porphyrin-containing compound biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in response to arsenic-containing substance	ISO Inferred from Sequence Orthology more info
involved_in response to cadmium ion	ISO Inferred from Sequence Orthology more info
involved_in response to ethanol	ISO Inferred from Sequence Orthology more info
involved_in response to metal ion	ISO Inferred from Sequence Orthology more info
involved_in response to nutrient	ISO Inferred from Sequence Orthology more info
involved_in response to organic substance	ISO Inferred from Sequence Orthology more info
involved_in response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info
involved_in response to zinc ion	ISO Inferred from Sequence Orthology more info
involved_in tetrapyrrole biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: delta-aminolevulinic acid dehydratase

Names: porphobilinogen synthase

NP_001263375.1

EC 4.2.1.24

NP_032551.3

EC 4.2.1.24

XP_006537702.1

EC 4.2.1.24

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_001276446.1 → NP_001263375.1 delta-aminolevulinic acid dehydratase

See identical proteins and their annotated locations for NP_001263375.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK002300, AK032908, AL732594, BY208737, CB524263

Consensus CDS

CCDS18243.1

UniProtKB/Swiss-Prot

P10518, Q3THV6

UniProtKB/TrEMBL

Q9DD05

Related

ENSMUSP00000103068.2, ENSMUST00000107444.8

Conserved Domains (1) summary

cd04824
Location:8 → 327

eu_ALAD_PBGS_cysteine_rich; Porphobilinogen synthase (PBGS), which is also called delta-aminolevulinic acid dehydratase (ALAD), catalyzes the condensation of two 5-aminolevulinic acid (ALA) molecules to form the pyrrole porphobilinogen (PBG), which is the second step in the ...
NM_008525.4 → NP_032551.3 delta-aminolevulinic acid dehydratase

See identical proteins and their annotated locations for NP_032551.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK032908, AL732594, CB524263

Consensus CDS

CCDS18243.1

UniProtKB/Swiss-Prot

P10518, Q3THV6

Related

ENSMUSP00000030090.4, ENSMUST00000030090.4

Conserved Domains (1) summary

cd04824
Location:8 → 327

eu_ALAD_PBGS_cysteine_rich; Porphobilinogen synthase (PBGS), which is also called delta-aminolevulinic acid dehydratase (ALAD), catalyzes the condensation of two 5-aminolevulinic acid (ALA) molecules to form the pyrrole porphobilinogen (PBG), which is the second step in the ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

62424221..62438300 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537639.2 → XP_006537702.1 delta-aminolevulinic acid dehydratase isoform X1

See identical proteins and their annotated locations for XP_006537702.1

UniProtKB/Swiss-Prot

P10518, Q3THV6

Conserved Domains (1) summary

cd04824
Location:8 → 327

eu_ALAD_PBGS_cysteine_rich; Porphobilinogen synthase (PBGS), which is also called delta-aminolevulinic acid dehydratase (ALAD), catalyzes the condensation of two 5-aminolevulinic acid (ALA) molecules to form the pyrrole porphobilinogen (PBG), which is the second step in the ...