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Alas1 Gene Detail
Summary
  • Symbol
    Alas1
  • Name
    aminolevulinic acid synthase 1
  • Synonyms
    5-aminolevulinate synthase, Alas-1, ALAS-N, succinyl-CoA: glycine C-succinyl transferase
  • Feature Type
    protein coding gene
  • IDs
    MGI:87989
    NCBI Gene: 11655
  • Gene Overview
    MyGene.info: ALAS1
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:106233455-106247954 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 57.46 cM, cytoband F1
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    131 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87989
protein coding gene Chr9:106233455-106248654 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035225
protein coding gene Chr9:108018456-108036366 (-)
A/J MGP_AJ_G0035205
protein coding gene Chr9:104128844-104143324 (-)
AKR/J MGP_AKRJ_G0035137
protein coding gene Chr9:106720520-106734946 (-)
BALB/cJ MGP_BALBcJ_G0035198
protein coding gene Chr9:103811580-103826697 (-)
C3H/HeJ MGP_C3HHeJ_G0034908
protein coding gene Chr9:107127171-107143051 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035718
protein coding gene Chr9:110979908-111000189 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032616
protein coding gene Chr9:101623451-101637487 (-)
CAST/EiJ MGP_CASTEiJ_G0034220
protein coding gene Chr9:107019310-107037667 (-)
CBA/J MGP_CBAJ_G0034877
protein coding gene Chr9:114885741-114904067 (-)
DBA/2J MGP_DBA2J_G0035038
protein coding gene Chr9:103588132-103602544 (-)
FVB/NJ MGP_FVBNJ_G0034986
protein coding gene Chr9:102359783-102374121 (-)
LP/J MGP_LPJ_G0035114
protein coding gene Chr9:108246401-108262357 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035025
protein coding gene Chr9:116539400-116555028 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035740
protein coding gene Chr9:106962229-106981257 (-)
PWK/PhJ MGP_PWKPhJ_G0033927
protein coding gene Chr9:103881324-103896111 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033762
protein coding gene Chr9:107024013-107037801 (-)
WSB/EiJ MGP_WSBEiJ_G0034340
protein coding gene Chr9:106861095-106876457 (-)



Homology
more
  • Human Ortholog
    ALAS1, 5'-aminolevulinate synthase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ALAS1, 5'-aminolevulinate synthase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ALAS, ALAS3, ALASH, ALAS-H, MIG4
  • Links
    NCBI Gene ID: 211
    neXtProt AC: NX_P13196
    UniProt: P13196

  • Chr Location
    3p21.2; chr3:52198083-52214327 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a reporter allele exhibit embryonic lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 11655 NCBI Gene Model | MGI Sequence Detail 14500 C57BL/6J ±  kb
transcript NM_001291835 RefSeq | MGI Sequence Detail 3089 C57BL/6  
polypeptide Q8VC19 UniProt | EBI | MGI Sequence Detail 642 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000003916 5-aminolevulinate synthase, nonspecific, mitochondrial
  • EC
  • InterPro Domains
    IPR015118 5-aminolevulinate synthase presequence
    IPR004839 Aminotransferase, class I/classII
    IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding site
    IPR015424 Pyridoxal phosphate-dependent transferase
    IPR015422 Pyridoxal phosphate-dependent transferase domain 1
    IPR015421 Pyridoxal phosphate-dependent transferase, major domain
    IPR010961 Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase
Molecular
Reagents
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  • All nucleic 218
    Genomic 4
    cDNA 212
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1268, MGD-MRK-1270
References
more
  • Summaries
    All 43
    Developmental Gene Expression 6
    Gene Ontology 5
    Phenotypes 7
  • Earliest
    J:10017 Schoenhaut DS, et al., Structure of a mouse erythroid 5-aminolevulinate synthase gene and mapping of erythroid-specific DNAse I hypersensitive sites. Nucleic Acids Res. 1989 Sep 12;17(17):7013-28
  • Latest
    J:211274 Yasuda M, et al., RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci U S A. 2014 May 27;111(21):7777-82

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory