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ALAS1 Gene

protein-coding GIFtS: 65
GCID: GC03P052207

Aminolevulinate, Delta-, Synthase 1

(Previous symbols: ALAS3, ALAS)

See ALAS1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Aminolevulinate, Delta-, Synthase 1¹ ²		ALASH² ³
ALAS3¹ ² ³		EC 2.3.1.37³ ⁸
ALAS¹ ²		5-Aminolevulinate Synthase, Nonspecific, Mitochondrial²
Delta-ALA Synthase 1² ³		MIG4²
Delta-Aminolevulinate Synthase 1² ³		Migration-Inducing Protein 4²
5-Aminolevulinic Acid Synthase 1² ³		EC 2.3.1⁸
ALAS-H² ³

External Ids:	HGNC: 396¹	Entrez Gene: 211²	Ensembl: ENSG00000023330⁷	OMIM: 125290⁵	UniProtKB: P13196³

Export aliases for ALAS1 gene to outside databases

Previous GC identifers: GC03P051324 GC03P051484 GC03P052088 GC03P052190

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALAS1 Gene:

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)

GeneCards Summary for ALAS1 Gene:

ALAS1 (aminolevulinate, delta-, synthase 1) is a protein-coding gene. Diseases associated with ALAS1 include x-linked sideroblastic anemia, and acute porphyria. GO annotations related to this gene include 5-aminolevulinate synthase activity and pyridoxal phosphate binding. An important paralog of this gene is GCAT.

Gene Wiki entry for ALAS1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000003.11 NT_022517.19 NC_018914.2

Regulatory elements:

Regulatory transcription factor binding sites in the ALAS1 gene promoter:
AP-1 ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALAS1 promoter sequence

Search Chromatin IP Primers for ALAS1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALAS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1 Ensembl cytogenetic band: 3p21.2 HGNC cytogenetic band: 3p21

ALAS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALAS1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P052207: view genomic region (about GC identifiers)

Start:	52,232,102 bp from pter	End:	52,248,343 bp from pter
Size:	16,242 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HEM1_HUMAN, P13196 (See protein sequence)

Recommended Name: 5-aminolevulinate synthase, nonspecific, mitochondrial precursor

Size: 640 amino acids; 70581 Da

Cofactor: Pyridoxal phosphate

Subunit: Homodimer

Miscellaneous: There are two delta-ALA synthases in vertebrates: an erythroid- specific form and one

(housekeeping) which is expressed in all tissues

Sequence caution: Sequence=CAA68506.1; Type=Frameshift; Positions=Several;

Alternative splicing: 2 isoforms: P13196-1 P13196-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALAS1: NX_P13196

Explore proteomics data for ALAS1 at MOPED

Post-translational modifications:

Ubiquitination² at Lys539

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for ALAS1 (P13196) (see all 28)

IFRHNDV

VHSMDGA

IYVQAIN

PKIVAFE

See ALAS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_000679.1 NP_954635.1

ENSEMBL proteins:

ENSP00000417719 ENSP00000378416 ENSP00000309259 ENSP00000418779 ENSP00000417352

ENSP00000419423

Reactome Protein details: P13196

ALAS1 Human Recombinant Protein Products:

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	Novus Biologicals ALAS1 Protein Novus Biologicals ALAS1 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for ALAS1
	Search eBioscience for Proteins for ALAS1
	antibodies-online proteins for ALAS1 (5 products)
	antibodies-online peptides for ALAS1

ALAS1 Antibody Products:

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	antibodies-online antibodies for ALAS1 (30 products)

ALAS1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for ALAS1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for ALAS1 Cloud-Clone Corp. CLIAs for ALAS1
	Search eBioscience for ELISAs for ALAS1
	antibodies-online kits for ALAS1 (19 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 7):

IPR010961 4pyrrol_synth_NH2levulA_synth

IPR015118 5aminolev_synth_preseq

IPR001917 Aminotrans_II_pyridoxalP_BS

IPR015422 PyrdxlP-dep_Trfase_major_sub2

IPR004839 Aminotransferase_I/II

Graphical View of Domain Structure for InterPro Entry P13196

ProtoNet protein and cluster: P13196

2 Blocks protein domains:

IPB001917 Aminotransferase

IPB004839 Aminotransferase

UniProtKB/Swiss-Prot: HEM1_HUMAN, P13196

Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family

Find genes that share domains with ALAS1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: HEM1_HUMAN, P13196

Catalytic activity: Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO(2)

Genatlas biochemistry entry for ALAS1:

aminolevulinate,delta-,synthase 1,housekeeping gene,liver,mitochondrial,pyridoxal dependent,catalyzing the first

step of porphyrin biosynthesis

Enzyme Numbers (IUBMB): EC 2.3.1.37¹ ² EC 2.3.1²

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003870	5-aminolevulinate synthase activity	IEA	--
GO:0030170	pyridoxal phosphate binding	IEA	--

Find genes that share ontologies with ALAS1 About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for ALAS1:

Decreased viability of wild-ty

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Alas1):

embryogenesis

growth/size/body

mortality/aging

Find genes that share phenotypes with ALAS1 About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for ALAS1

miRNA Products:		miRTarBase miRNAs that target ALAS1: hsa-mir-423-3p (MIRT042490), hsa-mir-484 (MIRT042198)

		Block miRNA regulation of human, mouse, rat ALAS1 using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate ALAS1
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Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ALAS1
		Predesigned siRNA for gene silencing in human, mouse, rat ALAS1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ALAS1

Clone Products:		OriGene clones in human, mouse for ALAS1 (see all 12) OriGene ORF clones in mouse, rat for ALAS1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): ALAS1 (NM_000688)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALAS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALAS1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ALAS1
		Browse ESI BIO Cell Lines and PureStem Progenitors for ALAS1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALAS1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

HEM1_HUMAN, P13196: Mitochondrion matrix

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
nucleus	4
cytosol	3

About this image

Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IDA	--
GO:0005759	mitochondrial matrix	TAS	--

Find genes that share ontologies with ALAS1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ALAS1 About

See pathways by source

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SuperPath

Contained pathways About

Metabolism of porphyrins

Metabolism of porphyrins	0.56	Heme Biosynthesis
Porphyrin and chlorophyll metabolism	0.56	heme biosynthesis
tetrapyrrole biosynthesis	0.00	Heme biosynthesis

Metabolism

	Metabolism	0.38			Metabolism of lipids and lipoproteins	0.37
	Metabolic pathways	0.38

Fatty acid, triacylglycerol, and ketone body metabolism

	Fatty acid, triacylglycerol, and ketone body metabolism	0.65			PPARA Activates Gene Expression	0.63
	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	0.65

Glycine, serine and threonine metabolism

Glycine, serine and threonine metabolism

FOXA2 and FOXA3 transcription factor networks

FOXA2 and FOXA3 transcription factor networks

Find genes that share SuperPaths with ALAS1 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

4 BioSystems Pathways for ALAS1

	Heme Biosynthesis
	tetrapyrrole biosynthesis
	heme biosynthesis
	FOXA2 and FOXA3 transcription factor networks

3 Reactome Pathways for ALAS1

	Heme biosynthesis
	PPARA activates gene expression
	Transcriptional activation of mitochondrial biogenesis

3 Kegg Pathways (Kegg details for ALAS1):

	Glycine, serine and threonine metabolism
	Porphyrin and chlorophyll metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: HEM1_HUMAN, P13196

Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine:

step 1/1

Pathway & Disease-focused RT² Profiler PCR Arrays including ALAS1:

Amino Acid Metabolism II in human mouse rat

Circadian Rhythms in human mouse rat

Interactions:

GeneGlobe Interaction Network for ALAS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ALAS1 (P13196^{2, 3} ENSP00000309259⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDK5	Q00535²^,³, ENSP00000297518⁴	MINT-8251454 I2D: score=2 STRING: ENSP00000297518
PIK3CB	P42338²^,³, ENSP00000289153⁴	MINT-8266150 I2D: score=2 STRING: ENSP00000289153
C8orf33	Q9H7E9²^,³	MINT-8250297 I2D: score=2
CDKN1A	P38936²^,³	MINT-8251551 I2D: score=2
NUDT3	O95989²^,³	MINT-8264616 I2D: score=2

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Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006778	porphyrin-containing compound metabolic process	TAS	--
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	--
GO:0006783	heme biosynthetic process	TAS	--
GO:0008152	metabolic process	--	--
GO:0009058	biosynthetic process	--	--

Find genes that share ontologies with ALAS1 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for ALAS1 (HEM1)

10 HMDB Compounds for ALAS1 About this table

Compound	Synonyms	CAS #	PubMed Ids
5-Aminolevulinic acid	5-amino-4-oxo-Pentanoate (see all 18)	106-60-5	--
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--
Formyl-CoA	Formyl coenzyme A	13131-49-2	--
Glycine	2-Aminoacetate (see all 15)	56-40-6	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
L-2-Amino-3-oxobutanoic acid	(2S)-2-amino-3-oxobutanoate (see all 10)	--	--
Pyridoxal 5'-phosphate	Apolon B6 (see all 27)	54-47-7	--
Succinyl-CoA	Coenzyme A S-(hydrogen succinate) (see all 24)	604-98-8	--

1 DrugBank Compound for ALAS1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Pyridoxal Phosphate	Codecarboxylase (see all 9)	54-47-7	target	cofactor	12699240 15251194 12191993 17469798 15840827

Selected Novoseek inferred chemical compound relationships for ALAS1 gene (see all 17) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
5-aminolevulinic acid	92.6	54	11343251 (3), 11267664 (2), 12191993 (2), 1859461 (1) (see all 39)
porphobilinogen	74.5	5	2032026 (1), 15144063 (1), 11343251 (1), 19477221 (1)
pyridoxal 5-phosphate	72.2	10	17469798 (2), 15840827 (1), 16121195 (1), 8916896 (1) (see all 7)
actb	67.3	2	16600798 (1), 16211407 (1)
pyridoxal	66.4	2	12686158 (1), 12191993 (1)
haem	65.2	5	11202048 (1), 11267664 (1), 15134506 (1), 15269772 (1)
vitamin b6	52.3	1	1415186 (1)
porphyrin	42.6	2	17975826 (1), 8171439 (1)
iron	40.9	8	9521555 (2), 8645006 (1), 1415186 (1), 2095458 (1) (see all 5)
phenobarbital	29.6	5	7678728 (3), 11343251 (1)

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ALAS1 gene (2 alternative transcripts):

NM_000688.5 NM_199166.2

Unigene Cluster for ALAS1:

Aminolevulinate, delta-, synthase 1

Hs.476308 [show with all ESTs]

Unigene Representative Sequence: NM_000688

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000469224(uc003dcx.2) ENST00000394965(uc003dcy.2 uc003dcz.2 uc011bec.2)

ENST00000310271 ENST00000484952 ENST00000493402 ENST00000459884

miRNA Products:		Block miRNA regulation of human, mouse, rat ALAS1 using miScript Target Protectors
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		GenScript: all cDNA clones in your preferred vector (see all 2): ALAS1 (NM_000688)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALAS1
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		QuantiFast Probe-based Assays in human, mouse, rat ALAS1

Additional mRNA sequence:

AB063322.1 AK293190.1 AK300993.1 AK312566.1 AY260745.1 BC011798.2 BC063005.1 X56351.1

Y00451.1

18 DOTS entries:

DT.448881 DT.100825677 DT.100825666 DT.100825667 DT.100825673 DT.120879853 DT.91759072 DT.100702945

DT.100825669 DT.100825670 DT.95217360 DT.95246281 DT.100030041 DT.100650319 DT.91759069 DT.95217385

DT.91673142 DT.92028635

369 AceView cDNA sequences (see top 24):

BU623798 BI334617 CF272420 CD367952 F08920 BM561578 BI907342 CA392829

BC011798 CA306408 BG685330 AL553505 AI148780 AA434424 F11257 AL532694

BG826691 CA388886 BQ421331 AA921941 F02941 AA434197 BP364914 BU507346

AA037368 BQ439004 AL531651 AA897693 CA748624 AI803110 BG177527 BG036565

BI826786 BM993790 AA834367 BF895333 CN479671 BU931795 F06671 AA099824

CA438637 NM_000688 BI823187 W94537 F08921 AL550020 BQ641463 AI092380

H11592 BU626833 NM_199166 BF309801 BX423854 CR596499 AL555603 AV719828

BI822333 BM459347 BQ021481 CR606089 BM761665 CR590706 X56351 BU662552

BG768228 BM712574 F11258 AA431231 BM785562 BG391900 BX346061 T89574

BU739663 BQ007580 CA309575 BQ001687 BE613962 BX373213 AL548076 AI830210

BI223798 AA470668 BX423788 AL551847 BF347786 AA336705 AA070207 BQ363221

BV174419 AU279391 AB063322 BM676318 BI763425 BX118463 CD246063 AA708917

BI438758 BF923469 AL573995 CA309062 BM760773 AL036097 BU626771 BM762703

T89844 BM719794 BM797246 BQ420625 CD014028 BC063005 BG213265 AA702707

AL571173 BM980466 CA308676 CA309088 BF205017 AL557909 BG682258 AA605295

BU195729 AI832786 BM740448 AA707391 BG386168 BP357550 AA565923 CD609378

BX423852 BU146444 BF969214 BM821564 BM854186 CA942996 BM546974 CA942757

BI964082 BF898235 BG825308 AV706970 BQ924491 BX427354 AA348927 CB529491

BX426335 CB160413 BE548815 AI627387 CA308605 AL528930 BF477751 BQ685719

BP343664 BU941186 BQ216936 BM842759 CA309589 BI439077 BE408615 BG058802

CA309612 AA837067 AA323489 AI376033 BX444311 AA432252 CD050022 AL564840

BG289305 BX329430 AA314936 BG825556 CA429618 BG189999 AI167217 BU850296

AA928154 CB115780 BQ066991 BU158282 BM762621 BG674334 BU173391 BM795202

AA576579 BF027321 CD516694 BI094061 BE622451 CA417011 AI633563 BX427355

BG106221 BP346682 BE208042 BM922439 AL545461 BX426336 BG830836 CA308592

BU941098 AI376859 BX423789 BG025464 BI058702 CD014147 AU144251 AL572771

AA341307 AU160770 F01139 BE857634 AV710280 CD609379 H92815 BF305760

BI025074 BM770447 BG163714 AL564127 AL579850 BE297589 AA768930 BI838319

T16690 BE545162 BG314677 BG899257 AA588427 AI289802 AA340131 AL576486

BQ883683 AI350063 AL575316 AI283473 CD697778 AW243918 AI305178 BG739866

BQ929169 CD689723 AA098907 BM822037 R72310 BE882555 BX376907 BE542683

AA453691 AA323488 BP350014 CD701174 BX420462 BF439027 AU100146 BI520487

BX346060 BM999135 BE297090 AA648352 BP872439 AI868691 R43663 AI057477

BG209068 BF895332 AV707162 BQ067338 H72407 AA447761 AU149142 BE872871

AA037574 AW182395 BF305807 BF795766 AI457748 AI418570 CD684155 T75056

Y00451 BX356947 BG192033 AI016279 W92592 AL578064 BG205941 AL528929

AI003337 AI189178 BG182599 BE019499 BU153076 AA070252 BE297344 T28454

AV726347 BE164089 AI312722 AA904155 BI008585 AA355258 AW130979 BF241927

R58231 BF083148 BM785272 BF095634 BX401909 R46044 BG206459 AU155380

BQ363170 BE929328 AA972611 BE742945 AA723720 CD684165 BG178473 AW401395

AA505771 AV710131 T89576 AW087327 BE299159 BG183109 AA346574 H11678

AI025686 AV725788 BF771273 AW188839 AA766185 BQ055873 AW978812 BE929332

AW007461 BF900691 BI008358 BM920858 BF901707 AA995992 H72850 BF902543

BI028226 BG764664 BG741064 AW004729 AA593082 BE929267 AI039123 AI267742

BQ935340 BF944306 BF900789 BE929355 AW662620 BX393175 BG504044 BF923449

BX352632 C01422 AI382396 AI932744 BG818938 AV705246 AW419277 BM455888

AI468823

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALAS1 (see all 7) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	·	3c	^	4a	·	4b	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b
SP1:											-
SP2:									-		-
SP3:									-		-		-
SP4:									-		-
SP5:											-		-

ECgene alternative splicing isoforms for ALAS1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ALAS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACCTCAATTA

About this image

ALAS1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Adrenal Gland (Endocrine System) fully expand to see all 3 entries
adrenal gland ; glandular cells
gland/adrenal gland/medulla

Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Testis (Reproductive System) fully expand to see all 2 entries
Leydig Cells Testis Interstitium
Testis Interstitium

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Ovary (Reproductive System)
Oviduct

ALAS1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ALAS1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.476308

Pathway & Disease-focused RT² Profiler PCR Arrays including ALAS1:

Amino Acid Metabolism II in human mouse rat

Circadian Rhythms in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for ALAS1 gene from Selected species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Alas1^{1 , 5}	aminolevulinic acid synthase 1^{1, 5}	87.5(n)¹ 91.72(a)¹		9 (57.46 cM)⁵ 11655¹ NM_020559.2¹ NP_065584.2¹ 106233455⁵
chicken (Gallus gallus)	Aves	ALAS1¹	aminolevulinate, delta-, synthase 1	76.57(n) 84.04(a)		552895 NM_001018012.1 NP_001018012.1
lizard (Anolis carolinensis)	Reptilia	ALAS1⁶	aminolevulinate, delta-, synthase 1	85(a)	1 ↔ 1	2(153543874-153558592)
African clawed frog (Xenopus laevis)	Amphibia	MGC68700²	hypothetical protein MGC68700	76.74(n)		BC059988.1
zebrafish (Danio rerio)	Actinopterygii	alas1²	aminolevulinate, delta-, synthetase 1	76.45(n)		64608 BC054574.1
fruit fly (Drosophila melanogaster)	Insecta	Alas³	5-aminolevulinate synthase	64(a)		60A14 --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	HEM1⁶	5-aminolevulinate synthase, catalyzes the first st...	36(a)	1 → many	IV(927452-929098) YDR232W

ENSEMBL Gene Tree for ALAS1 (if available)
TreeFam Gene Tree for ALAS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ALAS1 gene

GCAT² ALAS2²

1 SIMAP similar gene for ALAS1 using alignment to 4 protein entries: HEM1_HUMAN (see all proteins):

ALAS2

Find genes that share paralogs with ALAS1 About GenesLikeMe

1 Pseudogenes.org Pseudogene for ALAS1
PGOHUM00000239424

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs114545671^1,2		--	52230123(+)	`AGTTGC/TTTACA`	2	--	us2k¹		0	--	--	--	--
rs186870556^1,2		--	52230319(+)	`CAAGCC/TTTGAA`	2	--	us2k¹		0	--	--	--	--
rs57684956^1,2	C	--	52230370(+)	`CTGGG-/GTTTGA`	2	--	us2k¹		0	--	--	--	--
rs104902^1,2	C,F,A	--	52230440(+)	`CCCCCA/CAAAAA`	2	--	us2k¹		3		NA WA	122
rs104903^1,2	C,F,A	--	52230475(+)	`gctcaA/Tgccta`	2	--	us2k¹		9		NA WA EA	370
rs191761670^1,2		--	52230509(+)	`GAGGGC/TGATCA`	2	--	us2k¹		0	--	--	--	--
rs147338725^1,2		--	52230641(+)	`GAATCA/GCTTGA`	2	--	us2k¹		0	--	--	--	--
rs148711657^1,2		--	52230669(+)	`TGCAGC/TGAGCC`	2	--	us2k¹		0	--	--	--	--
rs116535703^1,2	C,F	--	52230786(+)	`CAGGGA/TTTATG`	2	--	us2k¹		1		WA	118
rs60097954^1,2	C	--	52230799(+)	`CCTATC/TGCCCA`	2	--	us2k¹		1		WA	2

HapMap Linkage Disequilibrium report for ALAS1 (52232102 - 52248343 bp)

Structural Variations
Database of Genomic Variants (DGV) 10 variations for ALAS1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv508926	CNV	Insertion	20534489
nsv876786	CNV	Loss	21882294
nsv834695	CNV	Loss	17160897
nsv460537	CNV	Loss	19166990
nsv876789	CNV	Loss	21882294
nsv508218	CNV	Loss	20534489
nsv470572	CNV	Loss	18288195
nsv834694	CNV	Gain	17160897
dgv5136n71	CNV	Gain	21882294
nsv519445	CNV	Gain+Loss	19592680

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing ALAS1

DNA2.0 Custom Variant and Variant Library Synthesis for ALAS1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 125290 OMIM disorders: --

3 diseases for ALAS1:
About MalaCards

x-linked sideroblastic anemia acute porphyria acute hepatic porphyria

2 inferred disease relationships from the University of Copenhagen DISEASES database for ALAS1:

Acute porphyria Sideroblastic anemia

Find genes that share disorders with ALAS1 About GenesLikeMe

5 Novoseek inferred disease relationships for ALAS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
anemia sideroblastic	91.8	11	1415186 (4), 8089650 (1), 7592563 (1), 10496043 (1) (see all 6)
anemia congenital sideroblastic	81.5	1	15217771 (1)
porphyria hepatic	81	2	11343251 (2)
porphyria	73.4	2	10692079 (1), 2095458 (1)
porphyria acute intermittent	72.6	1	2095458 (1)

Genetic Association Database (GAD): ALAS1
Human Genome Epidemiology (HuGE) Navigator: ALAS1 (8 documents)

Export disorders for ALAS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ALAS1 gene, integrated from 10 sources (see all 114):
(articles sorted by number of sources associating them with ALAS1)

Utopia: connect your pdf to the dynamic
world of online information

Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes. (PubMed id 2263504)^{1, 2} Bishop D.F. (Nucleic Acids Res. 1990)
Sequence of human 5-aminolevulinate synthase cDNA. (PubMed id 3671094)^{1, 2} Bawden M.J....Elliott W.H. (Nucleic Acids Res. 1987)
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. (PubMed id 2347585)^{1, 9} Bishop D.F....Astrin K.H. (Genomics 1990)
Conversion of 5-aminolevulinate synthase into a more active enzyme by linking the two subunits: spectroscopic and kinetic properties. (PubMed id 15840827)^{7, 9} Zhang J....Ferreira G.C. (Protein Sci. 2005)
Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen. (PubMed id 19656447)^{1, 9} du Plessis N....Warnich L. (Cell. Mol. Biol. (Noisy-le-grand) 2009)
Hepatic nuclear factor 3 and nuclear factor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin repression. (PubMed id 15123725)^{1, 9} Scassa M.E....CA!nepa E.T. (J. Biol. Chem. 2004)
Transient state kinetic investigation of 5-aminolevulinate synthase reaction mechanism. (PubMed id 12191993)^{7, 9} Zhang J. and Ferreira G.C. (J. Biol. Chem. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 211	HGNC: 396	AceView: ALAS1	Ensembl:ENSG00000023330	euGenes: HUgn211
ECgene: ALAS1	Kegg: 211	H-InvDB: ALAS1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ALAS1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ALAS1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ALAS1 gene:
Search GeneIP for patents involving ALAS1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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ALAS1 Gene

Aminolevulinate, Delta-, Synthase 1

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ALAS1 Gene

Aminolevulinate, Delta-, Synthase 1

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