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ALAS1

GENERAL INFORMATION

Gene name

 ALAS1

Gene description

 5'-aminolevulinate synthase 1

Protein class

 Enzymes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Ubiquitous cytoplasmic expression with a granular pattern.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Supported based on 2 antibodies.
HPA035860 , CAB017498
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable) and liver cancer (favourable).
Renal cancer p<0.001
Liver cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA035860
CAB017498

GENE INFORMATION

Gene name

 ALAS1 (HGNC Symbol)

Synonyms

 ALAS, ALAS3

Description

 5'-aminolevulinate 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

Chromosome

 3

Cytoband

 p21.2

Chromosome location (bp)

 52198086 - 52214327

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000023330 (version 83.38)

Entrez gene

 211

UniProt

 P13196 (UniProt - Evidence at protein level)

neXtProt

 NX_P13196

Antibodypedia

 ALAS1 antibodies

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

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ALAS1-001
ENSP00000378416
ENST00000394965
P13196 [Direct mapping]
5-aminolevulinate synthase, nonspecific, mitochondrial
Q5JAM2 [Target identity:100%; Query identity:100%]
5-aminolevulinate synthase
Show all
Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003870 [5-aminolevulinate synthase activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006778 [porphyrin-containing compound metabolic process]
GO:0006782 [protoporphyrinogen IX biosynthetic process]
GO:0006783 [heme biosynthetic process]
GO:0006996 [organelle organization]
GO:0007005 [mitochondrion organization]
GO:0008152 [metabolic process]
GO:0009058 [biosynthetic process]
GO:0016740 [transferase activity]
GO:0030170 [pyridoxal phosphate binding]
GO:0033014 [tetrapyrrole biosynthetic process]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
Show all
 640 aa
70.6 kDa 		No 0
ALAS1-002
ENSP00000417719
ENST00000469224
P13196 [Direct mapping]
5-aminolevulinate synthase, nonspecific, mitochondrial
Q5JAM2 [Target identity:100%; Query identity:100%]
5-aminolevulinate synthase
Show all
Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003870 [5-aminolevulinate synthase activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006778 [porphyrin-containing compound metabolic process]
GO:0006782 [protoporphyrinogen IX biosynthetic process]
GO:0006783 [heme biosynthetic process]
GO:0006996 [organelle organization]
GO:0007005 [mitochondrion organization]
GO:0008152 [metabolic process]
GO:0009058 [biosynthetic process]
GO:0016740 [transferase activity]
GO:0030170 [pyridoxal phosphate binding]
GO:0033014 [tetrapyrrole biosynthetic process]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
Show all
 640 aa
70.6 kDa 		No 0
ALAS1-003
ENSP00000309259
ENST00000310271
P13196 [Direct mapping]
5-aminolevulinate synthase, nonspecific, mitochondrial
Q5JAM2 [Target identity:100%; Query identity:100%]
5-aminolevulinate synthase
Show all
Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003870 [5-aminolevulinate synthase activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006778 [porphyrin-containing compound metabolic process]
GO:0006782 [protoporphyrinogen IX biosynthetic process]
GO:0006783 [heme biosynthetic process]
GO:0006996 [organelle organization]
GO:0007005 [mitochondrion organization]
GO:0008152 [metabolic process]
GO:0009058 [biosynthetic process]
GO:0016740 [transferase activity]
GO:0030170 [pyridoxal phosphate binding]
GO:0033014 [tetrapyrrole biosynthetic process]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
Show all
 640 aa
70.6 kDa 		No 0
ALAS1-004
ENSP00000418779
ENST00000484952
P13196 [Direct mapping]
5-aminolevulinate synthase, nonspecific, mitochondrial
Q5JAM2 [Target identity:100%; Query identity:100%]
5-aminolevulinate synthase
Show all
Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003870 [5-aminolevulinate synthase activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006778 [porphyrin-containing compound metabolic process]
GO:0006782 [protoporphyrinogen IX biosynthetic process]
GO:0006783 [heme biosynthetic process]
GO:0006996 [organelle organization]
GO:0007005 [mitochondrion organization]
GO:0008152 [metabolic process]
GO:0009058 [biosynthetic process]
GO:0016740 [transferase activity]
GO:0030170 [pyridoxal phosphate binding]
GO:0033014 [tetrapyrrole biosynthetic process]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
Show all
 640 aa
70.6 kDa 		No 0
ALAS1-006
ENSP00000419423
ENST00000459884
H7C5B0 [Direct mapping]
5-aminolevulinate synthase, nonspecific, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009058 [biosynthetic process]
GO:0030170 [pyridoxal phosphate binding]
Show all
 117 aa
13.4 kDa 		No 0
ALAS1-007
ENSP00000417352
ENST00000493402
H7C4H7 [Direct mapping]
5-aminolevulinate synthase, nonspecific, mitochondrial
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009058 [biosynthetic process]
GO:0030170 [pyridoxal phosphate binding]
Show all
 237 aa
26.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.