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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ALAS1 Gene

protein-coding GIFtS: 65
GCID: GC03P052207

Aminolevulinate, Delta-, Synthase 1

(Previous symbols: ALAS3, ALAS)

Alzheimer's & Parkinson's Diseases Congress

20 related diseases
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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 enterocele, and acute hepatic porphyria, and among its related super-pathways are superpathway of heme biosynthesis from glycine and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NT_022517.18 NC_018914.2

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for ALAS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Subcellular location: Mitochondrion matrix

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:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P13196

4/28 DME Specific Peptides for ALAS1 (P13196) (see all 28)

IFRHNDV

VHSMDGA

IYVQAIN

PKIVAFE

ALAS1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_000679.1 NP_954635.1

ENSEMBL proteins:

ENSP00000417719 ENSP00000378416 ENSP00000309259 ENSP00000418779 ENSP00000417352

ENSP00000419423

Reactome Protein details: P13196
Human Recombinant Protein Products for ALAS1:

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Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): 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	--

ALAS1 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/7 InterPro protein domains (see all 7):

IPR004839 Aminotransferase_I/II

IPR015424 PyrdxlP-dep_Trfase

IPR010961 4pyrrol_synth_NH2levulA_synth

IPR015118 5aminolev_synth_preseq

IPR001917 Aminotrans_II_pyridoxalP_BS

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

ALAS1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): About this table

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

ALAS1 for ontologies About GeneDecksing

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

mortality/aging

ALAS1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for ALAS1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ALAS1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALAS1

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for ALAS1 About (see all 6)

See pathways by source

SuperPath

Contained pathways About

Heme Biosynthesis

Heme Biosynthesis	0.82	Metabolism of porphyrins	0.69
Heme biosynthesis	0.82	tetrapyrrole biosynthesis II (from glycine)	0.57
superpathway of heme biosynthesis from glycine	0.78

Metabolism

	Metabolism	0.40			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.40

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	0.74			Fatty acid, triacylglycerol, and ketone body metabolism	0.52
	PPARA Activates Gene Expression	0.74

Glucuronidation

Porphyrin and chlorophyll metabolism

0.38

Glycine, serine and threonine metabolism

Glycine, serine and threonine metabolism

Pathways by source See SuperPaths
Show all pathways

4 BioSystems Pathways for ALAS1

	Heme Biosynthesis
	tetrapyrrole biosynthesis II (from glycine)
	FOXA2 and FOXA3 transcription factor networks
	superpathway of heme biosynthesis from glycine

5/7 Reactome Pathways for ALAS1 (see all 7)

	Metabolism of porphyrins
	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
	Heme biosynthesis
	Metabolism
	PPARA Activates Gene Expression

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

ALAS1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ALAS1

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

5/42 Interacting proteins for ALAS1 (P13196^{2, 3} ENSP00000309259⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

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

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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	--	--

ALAS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ALAS1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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

10/17 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)

Search CenterWatch for drugs/clinical trials and news about ALAS1 / HEM1

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

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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):

CR606089 BI823187 H11592 BF895333 BQ439004 BG036565 AA037368 AA434197

F08921 F02941 NM_199166 CF272420 AA431231 BI334617 F11258 CN479671

CA748624 BX423854 BF309801 AL555603 AL531651 BM712574 AI803110 W94537

AL532694 BM459347 CA306408 AA834367 AI092380 BG177527 F11257 BG768228

BQ421331 BP364914 AA099824 BI822333 CA438637 AA921941 BM785562 BQ021481

CA388886 CR590706 BU662552 BU931795 BU623798 BI826786 F06671 BU626833

BM761665 BQ641463 NM_000688 BM993790 BU507346 BG826691 CA392829 F08920

BM561578 AV719828 AL550020 CD367952 BC011798 AL553505 AA897693 X56351

BI907342 CR596499 AI148780 AA434424 BG685330 BM797246 AI633563 AL528930

BX329430 CD609378 CA309062 BX426335 AA576579 BE208042 CA308676 BM795202

T89844 CA309575 AA928154 CA942996 CA309612 CA417011 AA707391 BG674334

CB160413 BF027321 BP343664 AL548076 BU173391 AA565923 CA309589 CD516694

BV174419 BE622451 BI763425 AL545461 AI376033 AU279391 BU146444 BM980466

BX426336 AI832786 BX373213 BU195729 AL036097 CA942757 BM922439 BU941098

BQ066991 BX423852 AA348927 CD014028 BU158282 BU941186 AL551847 BG391900

CB529491 AA605295 BX427354 BG386168 AI376859 AV706970 BU626771 AA323489

BG213265 CA308605 AA708917 BM719794 BF347786 BM740448 CA308592 AL564840

BQ363221 CB115780 BI438758 BG289305 BM760773 BI964082 BM546974 AA702707

T89574 BQ007580 AL557909 BP357550 BQ924491 AI830210 BX118463 BM676318

BM821564 BQ420625 BG682258 BC063005 BX427355 AB063322 BE613962 BM762621

CA429618 BG825556 AA070207 BF477751 BU739663 BX444311 CD050022 BX423789

AA470668 BF205017 AL573995 BX423788 AA432252 AA314936 BI439077 BM854186

BG106221 AL571173 CD246063 BE548815 BI223798 AA837067 BM762703 BF898235

BG189999 AI167217 BE408615 BX346061 BI094061 BM842759 BQ216936 BF969214

BU850296 BF923469 BG830836 BP346682 AA336705 BG058802 BQ001687 CA309088

AI627387 BG825308 BQ685719 BE542683 AU160770 AI350063 AI289802 AA323488

BG314677 BM999135 BM822037 AL576486 H92815 CD689723 AA588427 BI058702

CD697778 AA768930 BG739866 AU144251 AL579850 BI838319 BX420462 T16690

BE857634 AL572771 AA340131 AA341307 BE297589 R72310 BI520487 AL564127

AL575316 BX346060 BP350014 BG899257 BE545162 AA098907 BX376907 AI283473

BG025464 BQ883683 BQ929169 AI305178 BF439027 AW243918 F01139 BF305760

CD609379 CD014147 AA453691 AV710280 CD701174 AU100146 BM770447 BG163714

BI025074 BE882555 BG192033 BF305807 BX356947 AI418570 AU149142 AA447761

BF795766 BQ067338 BF895332 H72407 AV707162 AI868691 AL578064 AI016279

AW182395 T75056 AI003337 AA037574 R43663 Y00451 BP872439 W92592

AA648352 BE297090 AI457748 AI057477 BG205941 BG209068 CD684155 AL528929

BE872871 BQ363170 AA355258 BE164089 BX401909 BE929328 BE742945 BU153076

AV726347 BG182599 BF241927 BG206459 AW130979 AA904155 AA070252 BE019499

AA972611 AU155380 BI008585 R58231 BE297344 AI189178 AI312722 BF095634

BF083148 R46044 T28454 BM785272 AA346574 BG183109 AW188839 AV725788

BE299159 AV710131 AA505771 H11678 AW401395 BG178473 AA723720 T89576

BF771273 AW978812 AW087327 AI025686 BQ055873 CD684165 AA766185 BI028226

AW004729 H72850 AI267742 BM920858 AW007461 AA995992 BF900691 AI039123

BF901707 BG764664 AA593082 BF944306 BG741064 BE929332 BE929267 BI008358

BF902543 BQ935340 BG504044 BE929355 C01422 BX352632 BF900789 AW662620

BF923449 BX393175 AI932744 AW419277 AV705246 AI468823 BM455888 BG818938

AI382396

GeneLoc Exon Structure

5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ALAS1 expression in normal human tissues (normalized intensities) ALAS1 embryonic expression: see
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

5/3 selected tissues (see all 3) fully expand


Testis (Reproductive System)
Testis Interstitium

Heart (Cardiovascular System)
left ventricular apex samples

Liver (Hepatobiliary System)

-- (Endocrine System)
gland/adrenal gland

See ALAS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALAS1

SOURCE GeneReport for Unigene cluster: Hs.476308

SABiosciences Expression via Pathway-Focused PCR Arrays including ALAS1:

Amino Acid Metabolism II in human mouse rat

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In Situ
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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)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALAS1 gene from 7/16 species (see all 16) 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	Uncharacterized protein	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)

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)
About This Section

Paralogs for ALAS1 gene

GCAT² ALAS2²

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

ALAS2

ALAS1 for paralogs About GeneDecksing

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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ALAS1 for disorders           About GeneDecksing

OMIM gene information: 125290    OMIM disorders: --

20 diseases for ALAS1:    About MalaCards

enterocele acute hepatic porphyria acute porphyria x-linked sideroblastic anemia

amebiasis acute liver failure sideroblastic anemia porphyria

aplastic anemia anemia malaria chronic lymphocytic leukemia

cytochrome p450 hepatitis hepatitis b tuberculosis

prostatitis alzheimer's disease prostate cancer leukemia

2 diseases from the University of Copenhagen DISEASES database for ALAS1:

Acute porphyria Sideroblastic anemia

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

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)
About This Section

PubMed articles for ALAS1 gene, integrated from 9 sources (see all 111):
(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 gen es influence AIDS progression. (PubMed id 20877624)^{1, 4} Hendrickson S.L....O'Brien S.J. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (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. (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. (1990)
Sequence of human 5-aminolevulinate synthase cDNA. (PubMed id 3671094)^{1, 2} Bawden M.J....Elliott W.H. (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. (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. (2005)
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....Canepa E.T. (2004)
Transient state kinetic investigation of 5-aminolevulinate synthase reaction mechanism. (PubMed id 12191993)^{7, 9} Zhang J. and Ferreira G.C. (2002)
Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis. (PubMed id 2095458)^{1, 9} May B.K....Cox T.C. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 211	HGNC: 396	AceView: ALAS1	Ensembl:ENSG00000023330	euGenes: HUgn211
ECgene: ALAS1	Kegg: 211	H-InvDB: ALAS1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

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

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ALAS1 Gene

Aminolevulinate, Delta-, Synthase 1

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ALAS1 Gene

Aminolevulinate, Delta-, Synthase 1

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