ALAS1 Gene

Aliases
for ALAS1 gene

(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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Previous GC identifers: GC03P051324 GC03P051484 GC03P052088 GC03P052190

Summaries
for ALAS1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
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  

SwitchGear Promoter luciferase reporter plasmid: ALAS1 promoter sequence

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

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


GeneLoc information about chromosome 3         GeneLoc Exon Structure

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

Proteins
for ALAS1 gene

(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, antibodies-online, and/or GeneTex,
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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Explore the universe of human proteins at neXtProt for ALAS1: NX_P13196

Explore proteomics data for ALAS1 at MOPED

Post-translational modifications: 

ALAS1 Human Recombinant Protein Products:

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	antibodies-online proteins for ALAS1 (5 products)
	antibodies-online peptides for ALAS1

ALAS1 Antibody Products:

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ALAS1 Assay Products:

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	antibodies-online kits for ALAS1 (19 products)

Domains /
Families
for ALAS1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P13196

Find genes that share domains with ALAS1           About GenesLikeMe

Function
for ALAS1 gene

(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, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

(inferred from 1 allele) (MGI details for Alas1)

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
		SwitchGear 3'UTR luciferase reporter plasmid: ALAS1 3' UTR sequence

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

Localization
for ALAS1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
mitochondrion	5
nucleus	4
cytosol	3

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

Pathways & Interactions
for ALAS1 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for ALAS1 About     See pathways by source

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	SuperPath	Contained pathways About
1	Metabolism of porphyrins	Metabolism of porphyrins 0.56 Heme Biosynthesis 0.00 Porphyrin and chlorophyll metabolism 0.56 heme biosynthesis 0.00 tetrapyrrole biosynthesis 0.00 Heme biosynthesis 0.00
2	Metabolism	Metabolism 0.38 Metabolism of lipids and lipoproteins 0.37 Metabolic pathways 0.38
3	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
4	Glycine, serine and threonine metabolism	Glycine, serine and threonine metabolism
5	FOXA2 and FOXA3 transcription factor networks	FOXA2 and FOXA3 transcription factor networks

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

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

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

Drugs & Compounds
for ALAS1 gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for ALAS1 gene

(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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Expression
for ALAS1 gene

(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 GenesLikeMe, 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

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

Primer Products:		OriGene qPCR primer pairs and template standards for ALAS1 OriGene qSTAR qPCR primer pairs in human, mouse for ALAS1
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALAS1
		QuantiTect SYBR Green Assays in human, mouse, rat ALAS1
		QuantiFast Probe-based Assays in human, mouse, rat ALAS1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALAS1

Orthologs
for ALAS1 gene

(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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Paralogs
for ALAS1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Genomic Variants
for ALAS1 gene

(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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Selected SNPs for ALAS1 (see all 383)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1145456711,2		--	52230123(+)	AGTTGC/TTTACA	2	--	us2k1		0	--	--	--	--
rs1868705561,2		--	52230319(+)	CAAGCC/TTTGAA	2	--	us2k1		0	--	--	--	--
rs576849561,2	C	--	52230370(+)	CTGGG-/GTTTGA	2	--	us2k1		0	--	--	--	--
rs1049021,2	C,F,A	--	52230440(+)	CCCCCA/CAAAAA	2	--	us2k1		3		NA WA	122
rs1049031,2	C,F,A	--	52230475(+)	gctcaA/Tgccta	2	--	us2k1		9		NA WA EA	370
rs1917616701,2		--	52230509(+)	GAGGGC/TGATCA	2	--	us2k1		0	--	--	--	--
rs1473387251,2		--	52230641(+)	GAATCA/GCTTGA	2	--	us2k1		0	--	--	--	--
rs1487116571,2		--	52230669(+)	TGCAGC/TGAGCC	2	--	us2k1		0	--	--	--	--
rs1165357031,2	C,F	--	52230786(+)	CAGGGA/TTTATG	2	--	us2k1		1		WA	118
rs600979541,2	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

Disorders / Diseases
for ALAS1 gene

(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, Sets of similar genes according to GenesLikeMe)
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3 diseases for ALAS1

5 Novoseek inferred disease relationships for ALAS1 gene    About this table

Publications
for ALAS1 gene

(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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1. 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)
2. 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)
3. 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)
4. 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)
5. Sequence of human 5-aminolevulinate synthase cDNA. (PubMed id 3671094)^{1, 2} Bawden M.J....Elliott W.H. (Nucleic Acids Res. 1987)
6. 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)
7. 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)
8. 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)
9. 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)
10. 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)

External Searches for ALAS1 gene

Genome Databases showing ALAS1 gene

Other Databases showing ALAS1 gene

Specialized Databases showing ALAS1 gene

Products
for ALAS1 gene

(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, GeneTex, 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
Advanced Cell Diagnostics, Animal models from genOway)
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