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UniProtKB/Swiss-Prot entry P13196

[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name HEM1_HUMAN
Primary accession number P13196
Secondary accession numbers None
Integrated into Swiss-Prot on January 1, 1990
Sequence was last modified on August 1, 1991 (Sequence version 2)
Annotations were last modified on    November 4, 2008 (Entry version 93)
Name and origin of the protein
Protein name 5-aminolevulinate synthase, nonspecific, mitochondrial [Precursor]
Synonyms EC 2.3.1.37
5-aminolevulinic acid synthase
Delta-aminolevulinate synthase
Delta-ALA synthetase
ALAS-H
Gene name
Name: ALAS1
Synonyms: ALAS3, ALASH
ORFNames: OK/SW-cl.121
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Liver;
DOI=10.1093/nar/18.23.7187; PubMed=2263504 [NCBI, ExPASy, EBI, Israel, Japan]
Bishop D.F.;
"Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes.";
Nucleic Acids Res. 18:7187-7188(1990).
[2]
 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Liver;
DOI=10.1093/nar/15.20.8563; PubMed=3671094 [NCBI, ExPASy, EBI, Israel, Japan]
Bawden M.J., Borthwick I.A., Healy H.M., Morris C.P., May B.K., Elliott W.H.;
"Sequence of human 5-aminolevulinate synthase cDNA.";
Nucleic Acids Res. 15:8563-8563(1987).
[3]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Colon adenocarcinoma;
Shichijo S., Itoh K.;
"Identification of immuno-peptidmics that are recognized by tumor-reactive CTL generated from TIL of colon cancer patients.";
Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
[4]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Muscle;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
X56351; CAA39794.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
Y00451; CAA68506.1; ALT_FRAME; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB063322; BAB93514.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC011798; AAH11798.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR S13682; SYHUAL.
RefSeq NP_000679.1; -.
NP_954635.1; -.
UniGene Hs.476308
3D structure databases
HSSP P12998; 1BS0. [HSSP ENTRY / PDB]
ModBase P13196.
PTM databases
PhosphoSite P13196; -.
Enzyme and pathway databases
Reactome REACT_9431; Porphyrin metabolism.
Organism-specific databases
H-InvDB HIX0003345; -.
HGNC HGNC:396; ALAS1.
GenAtlas ALAS1.
HPA CAB017498; -.
MIM 125290; gene. [NCBI / EBI]
PharmGKB PA24688; -.
GeneCards P13196.
Gene expression databases
ArrayExpress P13196; -.
CleanEx HS_ALAS1; -.
GermOnline ENSG00000023330; Homo sapiens.
Ontologies
GO
GO:0006783; Biological process: heme biosynthetic process (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR010961; 4pyrrol_synth_NH2levulA_synth.
IPR004839; Aminotrans_I/II.
IPR001917; Aminotrans_II_pyridoxalP_BS.
IPR015421; PyrdxlP-dep_Trfase_major_sub1.
Graphical view of domain structure.
Gene3D G3DSA:3.40.640.10; PyrdxlP-dep_Trfase_major_sub1; 1.
Pfam PF00155; Aminotran_1_2; 1.
Pfam graphical view of domain structure.
TIGRFAMs TIGR01821; 5aminolev_synth; 1.
PROSITE PS00599; AA_TRANSFER_CLASS_2; 1.
BLOCKS P13196.
ProtoNet P13196.
Genome annotation databases
Ensembl ENSG00000023330; Homo sapiens. [Contig view]
GeneID 211; -.
KEGG hsa:211; -.
Phylogenomic databases
HOGENOM P13196; -.
HOVERGEN P13196; -.
Other
DrugBank DB00145; Glycine.
DB00114; Pyridoxal Phosphate.
LinkHub P13196; -.
NextBio 846; -.
SOURCE ALAS1; Homo sapiens.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Acyltransferase; Alternative splicing; Heme biosynthesis; Mitochondrion; Pyridoxal phosphate; Transferase; Transit peptide.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
TRANSIT   1    56  56     Mitochondrion. 
CHAIN   57   640  584     5-aminolevulinate synthase, nonspecific, mitochondrial. PRO_0000001230
BINDING   445   445        Pyridoxal phosphate (covalent) (Probable). 
VAR_SEQ   95   118        HPLPATSQGTASKCPFLAAQMNQR -> FRLDTPCLPQARALQANALSWQHR (in isoform 2). VSP_025925
VAR_SEQ   119   640        Missing (in isoform 2). VSP_025924
CONFLICT   2     2        E -> D (in Ref. 2; CAA68506). 
CONFLICT   6     6        R -> G (in Ref. 2; CAA68506). 
CONFLICT   43    43        P -> Q (in Ref. 2; CAA68506). 
CONFLICT   47    47        A -> G (in Ref. 2; CAA68506). 
CONFLICT   56    57        QQ -> HK (in Ref. 2; CAA68506). 
CONFLICT   69    69        K -> Q (in Ref. 2; CAA68506). 
Sequence information
Length: 640 AA [This is the length of the unprocessed precursor] Molecular weight: 70581 Da [This is the MW of the unprocessed precursor] CRC64: 5E952DCCFFD6873F [This is a checksum on the sequence] 
        10         20         30         40         50         60 
MESVVRRCPF LSRVPQAFLQ KAGKSLLFYA QNCPKMMEVG AKPAPRALST AAVHYQQIKE 

        70         80         90        100        110        120 
TPPASEKDKT AKAKVQQTPD GSQQSPDGTQ LPSGHPLPAT SQGTASKCPF LAAQMNQRGS 

       130        140        150        160        170        180 
SVFCKASLEL QEDVQEMNAV RKEVAETSAG PSVVSVKTDG GDPSGLLKNF QDIMQKQRPE 

       190        200        210        220        230        240 
RVSHLLQDNL PKSVSTFQYD RFFEKKIDEK KNDHTYRVFK TVNRRAHIFP MADDYSDSLI 

       250        260        270        280        290        300 
TKKQVSVWCS NDYLGMSRHP RVCGAVMDTL KQHGAGAGGT RNISGTSKFH VDLERELADL 

       310        320        330        340        350        360 
HGKDAALLFS SCFVANDSTL FTLAKMMPGC EIYSDSGNHA SMIQGIRNSR VPKYIFRHND 

       370        380        390        400        410        420 
VSHLRELLQR SDPSVPKIVA FETVHSMDGA VCPLEELCDV AHEFGAITFV DEVHAVGLYG 

       430        440        450        460        470        480 
ARGGGIGDRD GVMPKMDIIS GTLGKAFGCV GGYIASTSSL IDTVRSYAAG FIFTTSLPPM 

       490        500        510        520        530        540 
LLAGALESVR ILKSAEGRVL RRQHQRNVKL MRQMLMDAGL PVVHCPSHII PVRVADAAKN 

       550        560        570        580        590        600 
TEVCDELMSR HNIYVQAINY PTVPRGEELL RIAPTPHHTP QMMNYFLENL LVTWKQVGLE 

       610        620        630        640 
LKPHSSAECN FCRRPLHFEV MSEREKSYFS GLSKLVSAQA
P13196 in FASTA format

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