ALAS1

GENE INFORMATION

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Gene name

ALAS1 (HGNC Symbol)

Synonyms

ALAS, ALAS3

Description

aminolevulinate, delta-, synthase 1 (HGNC Symbol)

Entrez gene 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. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]

Chromosome

3 (Chromosome progress)

Cytoband

p21.2

Chromosome location (bp)

52232102 - 52248343

Ensembl

ENSG00000023330 (version 73.37)

Entrez gene

211

UniProt

P13196 (UniProt - Evidence at protein level)

neXtProt

NX_P13196

Antibodypedia

ALAS1 antibodies
 

PROTEIN VIEW

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ALAS1-001
 
ALAS1-002
 
ALAS1-003
 
ALAS1-004
 
ALAS1-006
 
ALAS1-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALAS1-001 ENSP00000378416
ENST00000394965
P13196
Show all »
Show » Show » 640 70.6 No 0
ALAS1-002 ENSP00000417719
ENST00000469224
P13196
Show all »
Show » Show » 640 70.6 No 0
ALAS1-003 ENSP00000309259
ENST00000310271
P13196
Show all »
Show » Show » 640 70.6 No 0
ALAS1-004 ENSP00000418779
ENST00000484952
P13196
Show all »
Show » Show » 640 70.6 No 0
ALAS1-006 ENSP00000419423
ENST00000459884
Show » 117 13.4 No 0
ALAS1-007 ENSP00000417352
ENST00000493402
Show » Show » 237 26.6 No 0