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ALAS1 5'-aminolevulinate synthase 1 [ Homo sapiens (human) ]

Gene ID: 211, updated on 7-Jun-2020

Summary

Official Symbol
ALAS1provided by HGNC
Official Full Name
5'-aminolevulinate synthase 1provided by HGNC
Primary source
HGNC:HGNC:396
See related
Ensembl:ENSG00000023330 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; ALAS-H
Summary
This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
Expression
Biased expression in adrenal (RPKM 297.6), liver (RPKM 180.6) and 9 other tissues See more
Orthologs

Genomic context

See ALAS1 in Genome Data Viewer
Location:
3p21.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52198083..52214327)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52232099..52248343)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13023 Neighboring gene ALDOA pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 10522 Neighboring gene toll like receptor 9 Neighboring gene twinfilin actin binding protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of aminolevulinate, delta-, synthase 1 (ALAS1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5-aminolevulinate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
erythrocyte development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme biosynthetic process TAS
Traceable Author Statement
more info
 
hemoglobin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion organization TAS
Traceable Author Statement
more info
 
protoporphyrinogen IX biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
response to hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
5-aminolevulinate synthase, nonspecific, mitochondrial
Names
5-aminolevulinic acid synthase 1
aminolevulinate, delta-, synthase 1
delta-ALA synthase 1
delta-aminolevulinate synthase 1
migration-inducing protein 4
NP_000679.1
NP_001291372.1
NP_001291373.1
NP_954635.1
XP_011531779.1
XP_011531780.1
XP_016861362.1
XP_024309161.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_000688.6NP_000679.1  5-aminolevulinate synthase, nonspecific, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000679.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AI868691, AU279391, BC011798, CD014147, X56351
    Consensus CDS
    CCDS2847.1
    UniProtKB/Swiss-Prot
    P13196
    UniProtKB/TrEMBL
    Q5JAM2
    Related
    ENSP00000418779.1, ENST00000484952.6
    Conserved Domains (2) summary
    pfam09029
    Location:2137
    Preseq_ALAS; 5-aminolevulinate synthase presequence
    cl18945
    Location:197602
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  2. NM_001304443.1NP_001291372.1  5-aminolevulinate synthase, nonspecific, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001291372.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AB063322, AK300993, BM546974, DA691060, Y00451
    Consensus CDS
    CCDS2847.1
    UniProtKB/Swiss-Prot
    P13196
    UniProtKB/TrEMBL
    B4DVA0, Q5JAM2
    Related
    ENSP00000309259.2, ENST00000310271.6
    Conserved Domains (2) summary
    pfam09029
    Location:2137
    Preseq_ALAS; 5-aminolevulinate synthase presequence
    cl18945
    Location:197602
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  3. NM_001304444.1NP_001291373.1  5-aminolevulinate synthase, nonspecific, mitochondrial isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in its 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AB063322, AK300993, BM546974, DA691060
    UniProtKB/Swiss-Prot
    P13196
    UniProtKB/TrEMBL
    B4DVA0
    Conserved Domains (3) summary
    COG0156
    Location:214605
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
    pfam09029
    Location:19154
    Preseq_ALAS; 5-aminolevulinate synthase presequence
    cl18945
    Location:214619
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  4. NM_199166.2NP_954635.1  5-aminolevulinate synthase, nonspecific, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_954635.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AI868691, BM546974, BU173391, X56351
    Consensus CDS
    CCDS2847.1
    UniProtKB/Swiss-Prot
    P13196
    UniProtKB/TrEMBL
    Q5JAM2
    Related
    ENSP00000417719.1, ENST00000469224.5
    Conserved Domains (2) summary
    pfam09029
    Location:2137
    Preseq_ALAS; 5-aminolevulinate synthase presequence
    cl18945
    Location:197602
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    52198083..52214327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453393.1XP_024309161.1  5-aminolevulinate synthase, nonspecific, mitochondrial isoform X3

    Conserved Domains (2) summary
    pfam09029
    Location:2137
    Preseq_ALAS; 5-aminolevulinate synthase presequence
    cl18945
    Location:197547
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  2. XM_017005873.1XP_016861362.1  5-aminolevulinate synthase, nonspecific, mitochondrial isoform X3

    Conserved Domains (2) summary
    pfam09029
    Location:2137
    Preseq_ALAS; 5-aminolevulinate synthase presequence
    cl18945
    Location:197547
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  3. XM_011533478.2XP_011531780.1  5-aminolevulinate synthase, nonspecific, mitochondrial isoform X2

    Conserved Domains (3) summary
    COG0156
    Location:214550
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
    pfam09029
    Location:19154
    Preseq_ALAS; 5-aminolevulinate synthase presequence
    cl18945
    Location:214564
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  4. XM_011533477.2XP_011531779.1  5-aminolevulinate synthase, nonspecific, mitochondrial isoform X1

    Conserved Domains (3) summary
    COG0156
    Location:214604
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
    pfam09029
    Location:19154
    Preseq_ALAS; 5-aminolevulinate synthase presequence
    cl18945
    Location:214603
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
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