ENSG00000023330


Homo sapiens

Features
Gene ID: ENSG00000023330
  
Biological name :ALAS1
  
Synonyms : 5-aminolevulinate synthase 1 / ALAS1 / P13196
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p21.2
Gene start: 52198086
Gene end: 52214327
  
Corresponding Affymetrix probe sets: 205633_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000419423
Ensembl peptide - ENSP00000417719
Ensembl peptide - ENSP00000418779
Ensembl peptide - ENSP00000309259
Ensembl peptide - ENSP00000378416
Ensembl peptide - ENSP00000417352
NCBI entrez gene - 211     See in Manteia.
OMIM - 125290
RefSeq - XM_017005873
RefSeq - NM_000688
RefSeq - NM_001304443
RefSeq - NM_001304444
RefSeq - NM_199166
RefSeq - XM_011533477
RefSeq - XM_011533478
RefSeq Peptide - NP_001291372
RefSeq Peptide - NP_001291373
RefSeq Peptide - NP_954635
RefSeq Peptide - NP_000679
swissprot - P13196
swissprot - Q5JAM2
swissprot - H7C5B0
swissprot - H7C4H7
Ensembl - ENSG00000023330
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 alas1ENSDARG00000021059Danio rerio
 ALAS1ENSGALG00000003948Gallus gallus
 Alas1ENSMUSG00000032786Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ALAS2 / P22557 / 5-aminolevulinate synthase 2ENSG0000015857856
GCAT / O75600 / glycine C-acetyltransferaseENSG0000010011620


Protein motifs (from Interpro)
Interpro ID Name
 IPR001917  Aminotransferase, class-II, pyridoxal-phosphate binding site
 IPR004839  Aminotransferase, class I/classII
 IPR010961  Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase
 IPR015118  5-aminolevulinate synthase presequence
 IPR015421  Pyridoxal phosphate-dependent transferase, major domain
 IPR015422  Pyridoxal phosphate-dependent transferase domain 1
 IPR015424  Pyridoxal phosphate-dependent transferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006778 porphyrin-containing compound metabolic process IEA
 biological_processGO:0006782 protoporphyrinogen IX biosynthetic process IEA
 biological_processGO:0006783 heme biosynthetic process TAS
 biological_processGO:0007005 mitochondrion organization TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009058 biosynthetic process IEA
 biological_processGO:0019216 regulation of lipid metabolic process TAS
 biological_processGO:0033014 tetrapyrrole biosynthetic process IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003870 5-aminolevulinate synthase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0030170 pyridoxal phosphate binding IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Heme biosynthesis
PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000023330 ALAS1 / P13196 / 5-aminolevulinate synthase 1  / complex






 

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