Cell atlas - ALAS1 - The Human Protein Atlas

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ALAS1

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TISSUE

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CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria
	Nucleoplasm

Human cell
	Mitochondria
	Nucleoplasm

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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
Summary	Mainly localized to the mitochondria. In addition localized to the nucleoplasm.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (validated)
Additional location	In addition localized to the Nucleoplasm (supported)

DATA RELIABILITY
Reliability score	Validated based on 2 antibodies. CAB017498 , HPA035860
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the mitochondria. In addition localized to the nucleoplasm.

Main location

Mitochondria (validated)

Additional location

Nucleoplasm (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	CAB017498	A-431	Nucleoplasm
	CAB017498	A-431	Mitochondria
	CAB017498	U-2 OS	Nucleus
			Nucleoli fibrillar center
			Mitochondria
	CAB017498	U-251 MG	Nucleoplasm
	CAB017498	U-251 MG	Mitochondria
	HPA035860	A-431	Nucleoplasm
	HPA035860	A-431	Mitochondria
	HPA035860	U-2 OS	Nucleoplasm
			Mitochondria
			Cytosol
	HPA035860	U-251 MG	Nucleoplasm
	HPA035860	U-251 MG	Mitochondria

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 Show all	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

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The Project

The Human Protein Atlas

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