• Gene id: 210

Gene Summary

• Gene Symbol: ALAD   Gene   UCSC   Ensembl
• Aliases: ALADH, PBGS
• Gene name: aminolevulinate dehydratase
• Alternate names: delta-aminolevulinic acid dehydratase, aminolevulinate, delta-, dehydratase, porphobilinogen synthase, testicular tissue protein Li 95,
• Gene location: 9q32 (113401337: 113386311)     Exons: 14     NC_000009.12
• Gene summary(Entrez): 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 a
• OMIM: 125270

SNPs

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs1256049

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64257333C>T
NC_000014.8   g.64724051C>T
NG_011535.1   g.86218G>A
NM_001291712.2   c.984G>A
NM_001291712.1   c.984G>A
NM_001437.2   c.984G>A
NM_001291723.1   c.984G>A
NM_001040275.1   c.984G>A
NM_001214902.1   c.984G>A
NM_001271876.1   c.984G>A
NR_073497.  

rs2987983

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64296935A>G
NC_000014.8   g.64763653A>G
NG_011535.1   g.46616T>C|SEQ=[A/G]|GENE=ESR2

rs1256030

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64280452A>G
NC_000014.9   g.64280452A>T
NC_000014.8   g.64747170A>G
NC_000014.8   g.64747170A>T
NG_011535.1   g.63099T>C
NG_011535.1   g.63099T>A|SEQ=[A/G/T]|GENE=ESR2

rs7910927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63379150T>A
NC_000010.11   g.63379150T>G
NC_000010.10   g.65138910T>A
NC_000010.10   g.65138910T>G
NG_053187.1   g.147926A>T
NG_053187.1   g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C

rs10822184

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63577393T>C
NC_000010.11   g.63577393T>G
NC_000010.10   g.65337153T>C
NC_000010.10   g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs4986938

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64233098C>T
NC_000014.8   g.64699816C>T
NG_011535.1   g.110453G>A
NM_001437.2   c.*39G>A
NR_073497.1   n.1600G>A
NM_001271877.1   c.*39G>A
XM_017021080.1   c.*39G>A
XM_017021079.1   c.*39G>A
XM_017021081.1   c.*39G>A
XM_017021082.1   c.*39G>A
XM_01702108  

rs1256063

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64235499A>G
NC_000014.9   g.64235499A>T
NC_000014.8   g.64702217A>G
NC_000014.8   g.64702217A>T
NG_011535.1   g.108052T>C
NG_011535.1   g.108052T>A|SEQ=[A/G/T]|GENE=ESR2

rs944050

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64233327T>C
NC_000014.8   g.64700045T>C
NG_011535.1   g.110224A>G|SEQ=[T/C]|GENE=ESR2

Protein Summary

• Protein general information: P13716  
  • Name: Delta aminolevulinic acid dehydratase (ALADH) (EC 4.2.1.24) (Porphobilinogen synthase)
  • Length: 330  
  • Mass: 36295
• Sequence:

  MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRC
  VLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRL
  AEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQ
  LPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAV
  LEAMTAFRRAGADIIITYYTPQLLQWLKEE

• Structural information:
  • Interpro: IPR001731  IPR030656  IPR013785  
  • Prosite: PS00169
  • PDB: 1E51 1PV8 5HMS 5HNR
  • PDBsum: 1E51 1PV8 5HMS 5HNR
  • STRING: ENSP00000386284
• Other Databases: GeneCards:  ALAD  Malacards:  ALAD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008270	zinc ion binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006783	heme biosynthetic process	IBA	biological process
GO:0004655	porphobilinogen synthase activity	IBA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0006783	heme biosynthetic process	IDA	biological process
GO:0004655	porphobilinogen synthase activity	IDA	molecular function
GO:0051260	protein homooligomerization	IPI	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004655	porphobilinogen synthase activity	IEA	molecular function
GO:0033014	tetrapyrrole biosynthetic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0006779	porphyrin-containing compound biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	TAS	molecular function
GO:0004655	porphobilinogen synthase activity	TAS	molecular function
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0004655	porphobilinogen synthase activity	IEA	molecular function
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0070542	response to fatty acid	IEA	biological process
GO:0070541	response to platinum ion	IEA	biological process
GO:0051597	response to methylmercury	IEA	biological process
GO:0046685	response to arsenic-containing substance	IEA	biological process
GO:0043200	response to amino acid	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0010044	response to aluminum ion	IEA	biological process
GO:0010039	response to iron ion	IEA	biological process
GO:0010038	response to metal ion	IEA	biological process
GO:0010035	response to inorganic substance	IEA	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0004655	porphobilinogen synthase activity	IEA	molecular function
GO:0071353	cellular response to interleukin-4	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0004655	porphobilinogen synthase activity	IEA	molecular function
GO:1904854	proteasome core complex binding	IEA	molecular function
GO:0071284	cellular response to lead ion	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0046689	response to mercury ion	IEA	biological process
GO:0046686	response to cadmium ion	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0033273	response to vitamin	IEA	biological process
GO:0033197	response to vitamin E	IEA	biological process
GO:0032025	response to cobalt ion	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0010288	response to lead ion	IEA	biological process
GO:0010269	response to selenium ion	IEA	biological process
GO:0010266	response to vitamin B1	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0009635	response to herbicide	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	biological process
GO:1901799	negative regulation of proteasomal protein catabolic process	IDA	biological process
GO:0004655	porphobilinogen synthase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Porphyria	KEGG:H01763
Hepatic porphyria	KEGG:H00202
Porphyria	KEGG:H01763
Hepatic porphyria	KEGG:H00202
Sickle cell anemia	PMID:900140
Porphyria cutanea tarda	PMID:8100994
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881