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ALAD

GENERAL INFORMATION

Gene name

 ALAD

Gene description

 Aminolevulinate dehydratase

Protein class

 Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most normal cells. Distinct expression in gastric mucosa, renal tubules, leydig cells, salivary and adrenal glands.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA021023 , HPA022124
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Adrenal gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ALAD (HGNC Symbol)

Synonyms

 ALADH, PBGS

Description

 Aminolevulinate dehydratase (HGNC Symbol)

Entrez gene summary

 The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Chromosome

 9

Cytoband

 q32

Chromosome location (bp)

 113386317 - 113401333

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000148218 (version 83.38)

Entrez gene

 210

UniProt

 P13716 (UniProt - Evidence at protein level)

neXtProt

 NX_P13716

Antibodypedia

 ALAD antibodies

PROTEIN BROWSER
ALAD-001
ALAD-004
ALAD-007
ALAD-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ALAD-001
ENSP00000386284
ENST00000409155
P13716 [Direct mapping]
Delta-aminolevulinic acid dehydratase
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Enzymes
   ENZYME proteins
   Lyases
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0003824 [catalytic activity]
GO:0004655 [porphobilinogen synthase activity]
GO:0005615 [extracellular space]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0006778 [porphyrin-containing compound metabolic process]
GO:0006782 [protoporphyrinogen IX biosynthetic process]
GO:0006783 [heme biosynthetic process]
GO:0006979 [response to oxidative stress]
GO:0007584 [response to nutrient]
GO:0008270 [zinc ion binding]
GO:0009635 [response to herbicide]
GO:0009636 [response to toxic substance]
GO:0009725 [response to hormone]
GO:0010033 [response to organic substance]
GO:0010035 [response to inorganic substance]
GO:0010038 [response to metal ion]
GO:0010039 [response to iron ion]
GO:0010043 [response to zinc ion]
GO:0010044 [response to aluminum ion]
GO:0010212 [response to ionizing radiation]
GO:0010266 [response to vitamin B1]
GO:0010269 [response to selenium ion]
GO:0010288 [response to lead ion]
GO:0014070 [response to organic cyclic compound]
GO:0014823 [response to activity]
GO:0031667 [response to nutrient levels]
GO:0032025 [response to cobalt ion]
GO:0032496 [response to lipopolysaccharide]
GO:0032791 [lead ion binding]
GO:0033014 [tetrapyrrole biosynthetic process]
GO:0033197 [response to vitamin E]
GO:0033273 [response to vitamin]
GO:0042493 [response to drug]
GO:0042802 [identical protein binding]
GO:0043200 [response to amino acid]
GO:0044281 [small molecule metabolic process]
GO:0045471 [response to ethanol]
GO:0046685 [response to arsenic-containing substance]
GO:0046686 [response to cadmium ion]
GO:0046689 [response to mercury ion]
GO:0046872 [metal ion binding]
GO:0051260 [protein homooligomerization]
GO:0051384 [response to glucocorticoid]
GO:0051597 [response to methylmercury]
GO:0070062 [extracellular exosome]
GO:0070541 [response to platinum ion]
GO:0070542 [response to fatty acid]
GO:0071284 [cellular response to lead ion]
GO:0071353 [cellular response to interleukin-4]
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 330 aa
36.3 kDa 		No 0
ALAD-004
ENSP00000392748
ENST00000448137
B7ZBK6 [Direct mapping]
Delta-aminolevulinic acid dehydratase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004655 [porphobilinogen synthase activity]
GO:0005829 [cytosol]
GO:0033014 [tetrapyrrole biosynthetic process]
GO:0046872 [metal ion binding]
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 120 aa
13.3 kDa 		No 0
ALAD-007
ENSP00000415737
ENST00000452726
B7ZBK7 [Direct mapping]
Delta-aminolevulinic acid dehydratase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004655 [porphobilinogen synthase activity]
GO:0005829 [cytosol]
GO:0033014 [tetrapyrrole biosynthetic process]
GO:0046872 [metal ion binding]
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 59 aa
6.5 kDa 		No 0
ALAD-008
ENSP00000398438
ENST00000445750
B7ZBK8 [Direct mapping]
Delta-aminolevulinic acid dehydratase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
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 14 aa
1.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.