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P13196

- HEM1_HUMAN

UniProt

P13196 - HEM1_HUMAN

Protein

5-aminolevulinate synthase, nonspecific, mitochondrial

Gene

ALAS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 153 (01 Oct 2014)
      Sequence version 2 (01 Aug 1991)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO2.

    Cofactori

    Pyridoxal phosphate.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei217 – 2171SubstrateBy similarity
    Binding sitei334 – 3341SubstrateBy similarity
    Binding sitei353 – 3531SubstrateBy similarity
    Binding sitei386 – 3861Pyridoxal phosphateBy similarity
    Binding sitei414 – 4141Pyridoxal phosphateBy similarity
    Binding sitei442 – 4421Pyridoxal phosphateBy similarity
    Active sitei445 – 4451By similarity
    Binding sitei474 – 4741Pyridoxal phosphateBy similarity
    Binding sitei475 – 4751Pyridoxal phosphateBy similarity
    Binding sitei562 – 5621SubstrateBy similarity

    GO - Molecular functioni

    1. 5-aminolevulinate synthase activity Source: UniProtKB-EC
    2. pyridoxal phosphate binding Source: InterPro

    GO - Biological processi

    1. cellular lipid metabolic process Source: Reactome
    2. heme biosynthetic process Source: Reactome
    3. porphyrin-containing compound metabolic process Source: Reactome
    4. protoporphyrinogen IX biosynthetic process Source: UniProtKB-UniPathway
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Biological processi

    Heme biosynthesis

    Keywords - Ligandi

    Pyridoxal phosphate

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00424-MONOMER.
    ReactomeiREACT_116145. PPARA activates gene expression.
    REACT_200608. Transcriptional activation of mitochondrial biogenesis.
    REACT_9465. Heme biosynthesis.
    UniPathwayiUPA00251; UER00375.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    5-aminolevulinate synthase, nonspecific, mitochondrial (EC:2.3.1.37)
    Short name:
    ALAS-H
    Alternative name(s):
    5-aminolevulinic acid synthase 1
    Delta-ALA synthase 1
    Delta-aminolevulinate synthase 1
    Gene namesi
    Name:ALAS1
    Synonyms:ALAS3, ALASH
    ORF Names:OK/SW-cl.121
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:396. ALAS1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. mitochondrial matrix Source: Reactome
    3. mitochondrion Source: HPA
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24688.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 5656MitochondrionAdd
    BLAST
    Chaini57 – 6405845-aminolevulinate synthase, nonspecific, mitochondrialPRO_0000001230Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei445 – 4451N6-(pyridoxal phosphate)lysineCurated

    Proteomic databases

    MaxQBiP13196.
    PaxDbiP13196.
    PRIDEiP13196.

    PTM databases

    PhosphoSiteiP13196.

    Expressioni

    Gene expression databases

    ArrayExpressiP13196.
    BgeeiP13196.
    CleanExiHS_ALAS1.
    GenevestigatoriP13196.

    Organism-specific databases

    HPAiCAB017498.
    HPA035860.

    Interactioni

    Subunit structurei

    Homodimer.

    Protein-protein interaction databases

    BioGridi106713. 13 interactions.
    IntActiP13196. 12 interactions.
    MINTiMINT-4774107.
    STRINGi9606.ENSP00000309259.

    Structurei

    3D structure databases

    ProteinModelPortaliP13196.
    SMRiP13196. Positions 199-578.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0156.
    HOGENOMiHOG000221020.
    HOVERGENiHBG005954.
    InParanoidiP13196.
    KOiK00643.
    OMAiPQMMSYF.
    OrthoDBiEOG7TQV0F.
    PhylomeDBiP13196.
    TreeFamiTF300724.

    Family and domain databases

    Gene3Di3.40.640.10. 1 hit.
    3.90.1150.10. 1 hit.
    InterProiIPR010961. 4pyrrol_synth_NH2levulA_synth.
    IPR015118. 5aminolev_synth_preseq.
    IPR001917. Aminotrans_II_pyridoxalP_BS.
    IPR004839. Aminotransferase_I/II.
    IPR015424. PyrdxlP-dep_Trfase.
    IPR015421. PyrdxlP-dep_Trfase_major_sub1.
    IPR015422. PyrdxlP-dep_Trfase_major_sub2.
    [Graphical view]
    PfamiPF00155. Aminotran_1_2. 1 hit.
    PF09029. Preseq_ALAS. 2 hits.
    [Graphical view]
    SUPFAMiSSF53383. SSF53383. 1 hit.
    TIGRFAMsiTIGR01821. 5aminolev_synth. 1 hit.
    PROSITEiPS00599. AA_TRANSFER_CLASS_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P13196-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MESVVRRCPF LSRVPQAFLQ KAGKSLLFYA QNCPKMMEVG AKPAPRALST    50
    AAVHYQQIKE TPPASEKDKT AKAKVQQTPD GSQQSPDGTQ LPSGHPLPAT 100
    SQGTASKCPF LAAQMNQRGS SVFCKASLEL QEDVQEMNAV RKEVAETSAG 150
    PSVVSVKTDG GDPSGLLKNF QDIMQKQRPE RVSHLLQDNL PKSVSTFQYD 200
    RFFEKKIDEK KNDHTYRVFK TVNRRAHIFP MADDYSDSLI TKKQVSVWCS 250
    NDYLGMSRHP RVCGAVMDTL KQHGAGAGGT RNISGTSKFH VDLERELADL 300
    HGKDAALLFS SCFVANDSTL FTLAKMMPGC EIYSDSGNHA SMIQGIRNSR 350
    VPKYIFRHND VSHLRELLQR SDPSVPKIVA FETVHSMDGA VCPLEELCDV 400
    AHEFGAITFV DEVHAVGLYG ARGGGIGDRD GVMPKMDIIS GTLGKAFGCV 450
    GGYIASTSSL IDTVRSYAAG FIFTTSLPPM LLAGALESVR ILKSAEGRVL 500
    RRQHQRNVKL MRQMLMDAGL PVVHCPSHII PVRVADAAKN TEVCDELMSR 550
    HNIYVQAINY PTVPRGEELL RIAPTPHHTP QMMNYFLENL LVTWKQVGLE 600
    LKPHSSAECN FCRRPLHFEV MSEREKSYFS GLSKLVSAQA 640
    Length:640
    Mass (Da):70,581
    Last modified:August 1, 1991 - v2
    Checksum:i5E952DCCFFD6873F
    GO
    Isoform 2 (identifier: P13196-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         95-118: HPLPATSQGTASKCPFLAAQMNQR → FRLDTPCLPQARALQANALSWQHR
         119-640: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:118
    Mass (Da):12,961
    Checksum:iE4B74A55EDB54F70
    GO

    Sequence cautioni

    The sequence CAA68506.1 differs from that shown. Reason: Frameshift at several positions.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2 – 21E → D in CAA68506. (PubMed:3671094)Curated
    Sequence conflicti6 – 61R → G in CAA68506. (PubMed:3671094)Curated
    Sequence conflicti43 – 431P → Q in CAA68506. (PubMed:3671094)Curated
    Sequence conflicti47 – 471A → G in CAA68506. (PubMed:3671094)Curated
    Sequence conflicti56 – 572QQ → HK in CAA68506. (PubMed:3671094)Curated
    Sequence conflicti69 – 691K → Q in CAA68506. (PubMed:3671094)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei95 – 11824HPLPA…QMNQR → FRLDTPCLPQARALQANALS WQHR in isoform 2. 1 PublicationVSP_025925Add
    BLAST
    Alternative sequencei119 – 640522Missing in isoform 2. 1 PublicationVSP_025924Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X56351 mRNA. Translation: CAA39794.1.
    Y00451 mRNA. Translation: CAA68506.1. Frameshift.
    AB063322 mRNA. Translation: BAB93514.1.
    BC011798 mRNA. Translation: AAH11798.1.
    CCDSiCCDS2847.1. [P13196-1]
    PIRiS13682. SYHUAL.
    RefSeqiNP_000679.1. NM_000688.5. [P13196-1]
    NP_954635.1. NM_199166.2. [P13196-1]
    XP_005265002.1. XM_005264945.1. [P13196-1]
    UniGeneiHs.476308.

    Genome annotation databases

    EnsembliENST00000310271; ENSP00000309259; ENSG00000023330. [P13196-1]
    ENST00000394965; ENSP00000378416; ENSG00000023330. [P13196-1]
    ENST00000469224; ENSP00000417719; ENSG00000023330. [P13196-1]
    ENST00000484952; ENSP00000418779; ENSG00000023330. [P13196-1]
    GeneIDi211.
    KEGGihsa:211.
    UCSCiuc003dcx.2. human. [P13196-2]
    uc003dcy.2. human. [P13196-1]

    Polymorphism databases

    DMDMi122824.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X56351 mRNA. Translation: CAA39794.1 .
    Y00451 mRNA. Translation: CAA68506.1 . Frameshift.
    AB063322 mRNA. Translation: BAB93514.1 .
    BC011798 mRNA. Translation: AAH11798.1 .
    CCDSi CCDS2847.1. [P13196-1 ]
    PIRi S13682. SYHUAL.
    RefSeqi NP_000679.1. NM_000688.5. [P13196-1 ]
    NP_954635.1. NM_199166.2. [P13196-1 ]
    XP_005265002.1. XM_005264945.1. [P13196-1 ]
    UniGenei Hs.476308.

    3D structure databases

    ProteinModelPortali P13196.
    SMRi P13196. Positions 199-578.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106713. 13 interactions.
    IntActi P13196. 12 interactions.
    MINTi MINT-4774107.
    STRINGi 9606.ENSP00000309259.

    Chemistry

    DrugBanki DB00145. Glycine.

    PTM databases

    PhosphoSitei P13196.

    Polymorphism databases

    DMDMi 122824.

    Proteomic databases

    MaxQBi P13196.
    PaxDbi P13196.
    PRIDEi P13196.

    Protocols and materials databases

    DNASUi 211.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310271 ; ENSP00000309259 ; ENSG00000023330 . [P13196-1 ]
    ENST00000394965 ; ENSP00000378416 ; ENSG00000023330 . [P13196-1 ]
    ENST00000469224 ; ENSP00000417719 ; ENSG00000023330 . [P13196-1 ]
    ENST00000484952 ; ENSP00000418779 ; ENSG00000023330 . [P13196-1 ]
    GeneIDi 211.
    KEGGi hsa:211.
    UCSCi uc003dcx.2. human. [P13196-2 ]
    uc003dcy.2. human. [P13196-1 ]

    Organism-specific databases

    CTDi 211.
    GeneCardsi GC03P052207.
    HGNCi HGNC:396. ALAS1.
    HPAi CAB017498.
    HPA035860.
    MIMi 125290. gene.
    neXtProti NX_P13196.
    PharmGKBi PA24688.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0156.
    HOGENOMi HOG000221020.
    HOVERGENi HBG005954.
    InParanoidi P13196.
    KOi K00643.
    OMAi PQMMSYF.
    OrthoDBi EOG7TQV0F.
    PhylomeDBi P13196.
    TreeFami TF300724.

    Enzyme and pathway databases

    UniPathwayi UPA00251 ; UER00375 .
    BioCyci MetaCyc:HS00424-MONOMER.
    Reactomei REACT_116145. PPARA activates gene expression.
    REACT_200608. Transcriptional activation of mitochondrial biogenesis.
    REACT_9465. Heme biosynthesis.

    Miscellaneous databases

    GeneWikii ALAS1.
    GenomeRNAii 211.
    NextBioi 846.
    PROi P13196.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P13196.
    Bgeei P13196.
    CleanExi HS_ALAS1.
    Genevestigatori P13196.

    Family and domain databases

    Gene3Di 3.40.640.10. 1 hit.
    3.90.1150.10. 1 hit.
    InterProi IPR010961. 4pyrrol_synth_NH2levulA_synth.
    IPR015118. 5aminolev_synth_preseq.
    IPR001917. Aminotrans_II_pyridoxalP_BS.
    IPR004839. Aminotransferase_I/II.
    IPR015424. PyrdxlP-dep_Trfase.
    IPR015421. PyrdxlP-dep_Trfase_major_sub1.
    IPR015422. PyrdxlP-dep_Trfase_major_sub2.
    [Graphical view ]
    Pfami PF00155. Aminotran_1_2. 1 hit.
    PF09029. Preseq_ALAS. 2 hits.
    [Graphical view ]
    SUPFAMi SSF53383. SSF53383. 1 hit.
    TIGRFAMsi TIGR01821. 5aminolev_synth. 1 hit.
    PROSITEi PS00599. AA_TRANSFER_CLASS_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes."
      Bishop D.F.
      Nucleic Acids Res. 18:7187-7188(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Liver.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Liver.
    3. "Identification of immuno-peptidmics that are recognized by tumor-reactive CTL generated from TIL of colon cancer patients."
      Shichijo S., Itoh K.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Colon adenocarcinoma.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Muscle.

    Entry informationi

    Entry nameiHEM1_HUMAN
    AccessioniPrimary (citable) accession number: P13196
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 1, 1990
    Last sequence update: August 1, 1991
    Last modified: October 1, 2014
    This is version 153 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    There are two delta-ALA synthases in vertebrates: an erythroid- specific form and one (housekeeping) which is expressed in all tissues.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3