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Aliases & Descriptions for ALAS1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ALAS 2 ALAS-H 3 ALAS3 2 , 3 ALASH 2 , 3 EC 2.3.1.37 3 MIG4 2
Descriptions 5-aminolevulinate synthase 1 2 5-aminolevulinic acid synthase 3 Delta-ALA synthetase 3 Delta-aminolevulinate synthase 3 aminolevulinate, delta-, synthase 1 2 migration-inducing protein 4 2
Search outside databases for aliases for ALAS1 genePrevious GC identifers: GC03P051324 GC03P051484 GC03P052088 GC03P052190
Summaries for ALAS1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ALAS1 : Delta-aminolevulinate synthase (ALAS; EC 2.3.1.37) catalyzes the condensation of glycine withsuccinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme is thefirst and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroidtissue-specific enzyme encoded by ALAS2 (MIM 301300).[supplied by OMIM]
Genomic Location for ALAS1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ALAS1 gene Entrez Gene cytogenetic band: 3p21.1 Ensembl cytogenetic band: 3p21.1 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) GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03P052207:
(about GC identifiers )
Start:
52,207,156 bp from pter
End:
52,223,383 bp from pter
Size:
16,228 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000003.10 NT_022517.17 Proteins for ALAS1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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
Subcellular location : Mitochondrion matrix
Miscellaneous : There are two delta-ALA synthetase in vertebrates: an erythroid- specific form andone (housekeeping) which is expressed in all tissues
Sequence caution : Sequence=CAA68506.1; Type=Frameshift; Positions=Several;Alternative splicing : 2 isoforms : P13196-1 P13196-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_000679.1 NP_954635.1 ENSEMBL proteins: ENSP00000309259 ENSP00000378416 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: ALAS1 2 Gene Ontology (GO) cellular component terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005739 mitochondrion
IEA -- GO:0005759 mitochondrial matrix
IEA --
About this table Antibodies for ALAS1: Assays for ALAS1:
Protein
Domains/ Families for ALAS1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P13196 ProtoNet protein and cluster: P13196
2 Blocks protein families : IPB001917 Aminotransferase IPB004839 Aminotransferase UniProtKB/Swiss-Prot: HEM1_HUMAN, P13196 Similarity : Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family
Gene Function for ALAS1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000688 Applied Biosystems Silencer ® siRNAs for ALAS1 Sigma-Aldrich siRNA for ALAS1 Sigma-Aldrich shRNA for ALAS1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000688                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000688                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000688  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000688 UniProtKB/Swiss-Prot: HEM1_HUMAN, P13196 Catalytic activity : Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO(2)Enzyme Number (IUBMB): EC 2.3.1.37
Genatlas biochemistry entry for ALAS1 :aminolevulinate,delta-,synthase 1,housekeeping gene,liver,mitochondrial,pyridoxaldependent,catalyzing the first step of porphyrin biosynthesis 4 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0003870 5-aminolevulinate synthase activity
IEA -- GO:0008415 acyltransferase activity
IEA -- GO:0016769 transferase activity, transferring nitrogenous groups
IEA -- GO:0030170 pyridoxal phosphate binding
IEA --
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Pathways & Interactions for ALAS1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for ALAS1 (Your Favorite Gene powered by Ingenuity) (see all 7
) UniProtKB/Swiss-Prot: HEM1_HUMAN, P13196 Pathway : Porphyrin metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step1/1
Gene Network CentralTM Interacting Genes and Proteins Network for ALAS1 5/33 Interacting proteins for ALAS1 (ENSP00000309259 3 ) via UniProtKB, MINT, and/or STRING (see all 33
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for ALAS1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ALAS1 10 Novoseek chemical compound relationships for ALAS1 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
5-aminolevulinic acid
92.87
53
11343251 (3), 11267664 (2), 12191993 (2), 1859461 (1) (see all 38 )
porphobilinogen
71.79
4
2032026 (1), 15144063 (1), 11343251 (1)
actb
70.88
2
16600798 (1), 16211407 (1)
haem
66.11
5
11202048 (1), 11267664 (1), 15134506 (1), 15269772 (1)
porphyrin
44.46
2
17975826 (1), 8171439 (1)
iron
40.42
8
9521555 (2), 8645006 (1), 1415186 (1), 2095458 (1) (see all 5 )
histidine
6.11
2
17469798 (1), 9488633 (1)
leucine
4.23
1
16234850 (1)
phosphatidylinositol
4.05
1
11716532 (1)
oxygen
0.00
1
16234850 (1)
About this table
Transcripts for ALAS1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000688 Sigma-Aldrich siRNA for ALAS1 Sigma-Aldrich shRNA for ALAS1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000688 NM_199166
REFSEQ mRNAs for ALAS1 gene (2 alternative transcripts): NM_000688.4 NM_199166.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000688 NM_199166
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000688                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000688                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000688  
Additional cDNA sequence: AB063322.1 AK293190.1 AK300993.1 AK312566.1 AY260745.1 BC011798.2 BC063005.1 CR590706.1 CR596499.1 CR606089.1 X56351.1 Y00451.1
18 DOTS entries : DT.448881 DT.100825677 DT.100825666 DT.100825667 DT.100825673 DT.120879853 DT.91759072 DT.95217360 DT.100702945 DT.95246281 DT.100030041 DT.100650319 DT.100825670 DT.91759069 DT.95217385 DT.100825669 DT.91673142 DT.92028635
24/369 AceView cDNA sequences (see all 369
):AL531651 AV719828 BF309801 BG177527 AA434424 F02941 BQ641463 CA438637 CN479671 BI826786 BC011798 AL555603 BM993790 BG768228 AA431231 CF272420 NM_000688 CA392829 AA921941 AI092380 BI334617 AL553505 CR590706 BU623798
highest scoring ESTs for ALAS1 :Y00451 AA070207 AA099824 AA348927 AA431231 AA432252 AA434197 AA434424 AA447761 AA470668
Unigene Cluster for ALAS1: Aminolevulinate, delta-, synthase 1 Hs.476308 [show with all ESTs ] Unigene Representative Sequence: NM_000688 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ALAS1 (see all 7
) 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 :           -   -                              
About this scheme ECgene alternative splicing isoforms for ALAS1 2 Ensembl transcripts including schematic representations : ENST00000310271
ENST00000394965
Expression for ALAS1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ALAS1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ALAS1 1 / 2 / 3
3 probe-sets matching ALAS1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ACCTCAATTASOURCE GeneReport for Unigene cluster: Hs.476308 Expression variation in blood from EXPOLDB for ALAS1
Orthologs for ALAS1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ALAS1 gene from 5/11 species (see all 11
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
ALAS11
--
aminolevulinate, delta-, synthase 1
91.72(n) 95.31(a)
476600 XM_533804.2 XP_533804.2
chimpanzee (Pan troglodytes)
ALAS11
--
aminolevulinate, delta-, synthase 1
99.58(n) 100(a)
460416 XM_001171508.1 XP_001171508.1
cow (Bos taurus)
ALAS11
--
aminolevulinate, delta-, synthase 1
88.28(n) 90.78(a)
534286 XM_866156.2 XP_871249.2
mouse (Mus musculus)
Alas11 , 5
95
aminolevulinic acid synthase 11, 5
87.53(n) 1 91.71(a) 1
11655 1 NM_020559.1 1 NP_065584.1 1 AF255616 5 AK077152 5 (see all 11 )
chicken (Gallus gallus)
ALAS11
--
aminolevulinate, delta-, synthase 1
76.57(n) 84.04(a)
552895 NM_001018012.1 NP_001018012.1
About this table Species with no ortholog for ALAS1 ENSEMBL Gene Tree for ALAS1 Paralogs for ALAS1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ALAS1 gene GCAT 2 ALAS2 2
SNPs/Variants for ALAS1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ALAS1 (up to first 250kb)
Disorders & Mutations for ALAS1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 125290 5 Novoseek disease relationships for ALAS1 gene
About this table
Medical News for ALAS1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ALAS1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/89 PubMed articles for ALAS1 gene (see all 89
): The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 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) 3, 4 Bishop D.F. (1990) Sequence of human 5-aminolevulinate synthase cDNA. (PubMed id 3671094) 3, 4 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, 3 Bishop D.F....Astrin K.H. (1990) Peroxisome proliferator-activated receptor alpha controls hepatic heme biosynthesis through ALAS1. (PubMed id 19289130) 1, 3 Degenhardt T....Carlberg C. (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, 3 Scassa M.E....Canepa E.T. (2004) Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis. (PubMed id 2095458) 1, 3 May B.K....Cox T.C. (1990) Inhibitory effect of AP-1 complex on 5-aminolevulinate synthase gene expression through sequestration of cAMP-response element protein (CRE)-binding protein (CBP) coactivator. (PubMed id 12433930) 1, 3 Guberman A.S....Canepa E.T. (2003) Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes. (PubMed id 11267664) 1, 3 Roberts A.G. and Elder G.H. (2001) Assignment of the human housekeeping delta-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids. (PubMed id 7698013) 1, 3 Cotter P.D....Bishop D.F. (1995)
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Genome Databases showing ALAS1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ALAS1
(According to HUGE )
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--
Specialized Databases showing ALAS1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for ALAS1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009