- Official
Symbol
- ALAS1provided by HGNC
- Official
Full Name
- aminolevulinate, delta-, synthase 1provided by HGNC
- Primary source
-
HGNC:396
- See related
-
Ensembl:ENSG00000023330;
HPRD:00505;
MIM:125290
- Gene type
- protein coding
- RefSeq status
- VALIDATED
- Organism
-
Homo sapiens
- Lineage
- Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
- Also known as
- ALAS; MIG4; ALAS3; ALASH; ALAS1
- Summary
- Delta-aminolevulinate synthase (ALAS; EC 2.3.1.37) catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme is the first and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2 tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2 (MIM 301300).[supplied by OMIM]
chromosome: 3;Â?Location: 3p21.1See ALAS1 in MapViewer
Related Articles in PubMed
GeneRIFs: Gene References Into Function
What's a GeneRIF?
|
1. |
In this study, we show significant reductions of the rate-limiting enzymes involved in heme biosynthesis, ALAS1 in the postmortem cortex of Alzheimer's disease subjects, providing additional evidence of abnormal heme homeostasis in Alzheimer's disease. |
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2. |
Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin. |
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3. |
role of PPARalpha in the regulation of human ALAS1 and of five additional genes of the pathway, consequently leading to increased heme synthesis. |
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4. |
Expression of candidate genes HPRT1 and ALAS1 in malignant and non-malignant prostate tissue samples after microdissection. |
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5. |
REVIEW: mechanisms involving ALAS deficiency, point mutations, post translational processing, and complex formation with succinyl CoA synthetase subunit B in the pathogenesis of hereditary sideroblastic anemia. |
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6. |
REVIEW:active site and mechanistic analysis, protein folding, structure and function. |
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7. |
in the liver of Acute liver failure patients, there may be an increase in free heme concentration which down-regulating ALAS1 gene expression |
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8. |
ALAS gene expression is regulated by Hepatic nuclear factor 3 and nuclear factor 1 |
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9. |
ALAS expression is regulated by AP-1 complex through sequestration of cAMP-response element protein (CRE)-binding protein (CBP) coactivator in human cells |
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10. |
5-aminolevulinate synthase gene repression by the potent tumor promoter, TPA, involves multiple signal transduction pathways |
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11. |
First described frameshift ALAS2 mutation, CD506-507 (-C). |
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12. |
Alternative splicing of human ALAS1 generates two mRNAs with different 5'-UTRs: a major one, where exon 1B is omitted, and a minor form containing exon 1B. |
| Description .......... |
| Â?Â?Product |
Interactant |
Other Gene |
Complex |
Source |
PubsÂ?Â?Â?Â?Â?Â?Â?Â?Â?Â? |
| Â? |
| Â?Â?P13196Â?Â? |
O95630Â?Â? |
STAMBP Â?Â? |
Â? |
HPRD Â?Â?
|
PubMed
|
Pathways
- KEGG pathway: Glycine, serine and threonine metabolism
- 00260
- KEGG pathway: Metabolic pathways
- 01100
- KEGG pathway: Porphyrin and chlorophyll metabolism
- 00860
- Reactome Event:Metabolism of porphyrins
- REACT_9431
Gene Ontology Provided by GOA
- Preferred Names
- 5-aminolevulinate synthase, nonspecific, mitochondrial
- Names
- 5-aminolevulinate synthase, nonspecific, mitochondrial
- ALAS-H
- delta-ALA synthase 1
- migration-inducing protein 4
- 5-aminolevulinic acid synthase 1
- delta-aminolevulinate synthase 1
- NP_000679.1
-
- EC 2.3.1.37
- NP_954635.1
-
- EC 2.3.1.37
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_000688.4 → NP_000679.1 �5-aminolevulinate synthase, nonspecific, mitochondrial precursor
- Source sequence(s)
-
AU279391,BC011798,CD014147,X56351
- Consensus CDS
-
CCDS2847.1
- UniProtKB/Swiss-Prot
-
P13196
- UniProtKB/TrEMBL
-
Q5JAM2
- Related Ensembl
- ENSP00000309259, ENSP00000378416, ENST00000310271, ENST00000394965
- Conserved Domains (3) summary
-
- COG0156
Location:197 – 590
Blast Score: 926
- BioF; 7-keto-8-aminopelargonate synthetase and related enzymes [Coenzyme metabolism]
- cd06454
Location:243 – 598
Blast Score: 1249
- KBL_like; KBL_like; this family belongs to the pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD corresponds to serine palmitoyltransferase (SPT), 5-aminolevulinate synthase (ALAS), 8-amino-7-...
- pfam09029
Location:1 – 139
Blast Score: 232
- Preseq_ALAS; 5-aminolevulinate synthase presequence
-
NM_199166.1 → NP_954635.1 �5-aminolevulinate synthase, nonspecific, mitochondrial precursor
- Source sequence(s)
-
BM546974,BU173391,X56351
- Consensus CDS
-
CCDS2847.1
- UniProtKB/Swiss-Prot
-
P13196
- UniProtKB/TrEMBL
-
Q5JAM2
- Related Ensembl
- ENSP00000309259, ENSP00000378416, ENST00000310271, ENST00000394965
- Conserved Domains (3) summary
-
- COG0156
Location:197 – 590
Blast Score: 926
- BioF; 7-keto-8-aminopelargonate synthetase and related enzymes [Coenzyme metabolism]
- cd06454
Location:243 – 598
Blast Score: 1249
- KBL_like; KBL_like; this family belongs to the pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD corresponds to serine palmitoyltransferase (SPT), 5-aminolevulinate synthase (ALAS), 8-amino-7-...
- pfam09029
Location:1 – 139
Blast Score: 232
- Preseq_ALAS; 5-aminolevulinate synthase presequence
RefSeqs of Annotated Genomes: Build 37.1
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs
for chromosomes and scaffolds (contigs) from both reference and alternate assemblies.
Model RNAs and proteins are also reported here.
Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly
Genomic
-
NC_000003.11
- Range
- 52232115..52248342
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
-
NT_022517.18Â?
- Range
- 52172115..52188342
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
Alternate assembly (Celera)
Genomic
-
AC_000046.1
- Range
- 52211427..52227654
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
-
NW_921651.1Â?
- Range
- 52211427..52227654
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
Alternate assembly (HuRef)
Genomic
-
AC_000135.1
- Range
- 52294308..52310540, complement
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)
-
NW_001838877.2Â?
- Range
- 13957121..13973353, complement
- Download
-
GenBank
FASTA
Sequence Viewer (Graphics)