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P13196

- HEM1_HUMAN

UniProt

P13196 - HEM1_HUMAN

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Protein
5-aminolevulinate synthase, nonspecific, mitochondrial
Gene
ALAS1, ALAS3, ALASH, OK/SW-cl.121
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Cofactori

Pyridoxal phosphate.

Pathwayi

Sites

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

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
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24688.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 5656Mitochondrion
Add
BLAST
Chaini57 – 6405845-aminolevulinate synthase, nonspecific, mitochondrial
PRO_0000001230Add
BLAST

Amino acid modifications

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

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.

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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei95 – 11824HPLPA…QMNQR → FRLDTPCLPQARALQANALS WQHR in isoform 2.
VSP_025925Add
BLAST
Alternative sequencei119 – 640522Missing in isoform 2.
VSP_025924Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 21E → D in CAA68506. 1 Publication
Sequence conflicti6 – 61R → G in CAA68506. 1 Publication
Sequence conflicti43 – 431P → Q in CAA68506. 1 Publication
Sequence conflicti47 – 471A → G in CAA68506. 1 Publication
Sequence conflicti56 – 572QQ → HK in CAA68506. 1 Publication
Sequence conflicti69 – 691K → Q in CAA68506. 1 Publication

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.
DB00114. Pyridoxal Phosphate.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 152 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

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