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P13196 (HEM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
5-aminolevulinate synthase, nonspecific, mitochondrial

Short name=ALAS-H
EC=2.3.1.37
Alternative name(s):
5-aminolevulinic acid synthase 1
Delta-ALA synthase 1
Delta-aminolevulinate synthase 1
Gene names
Name:ALAS1
Synonyms:ALAS3, ALASH
ORF Names:OK/SW-cl.121
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length640 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

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

Cofactor

Pyridoxal phosphate.

Pathway

Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.

Subunit structure

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 similarities

Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P13196-1)

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.
Isoform 2 (identifier: P13196-2)

The sequence of this isoform differs from the canonical sequence as follows:
     95-118: HPLPATSQGTASKCPFLAAQMNQR → FRLDTPCLPQARALQANALSWQHR
     119-640: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 5656Mitochondrion
Chain57 – 6405845-aminolevulinate synthase, nonspecific, mitochondrial
PRO_0000001230

Sites

Active site4451 By similarity
Binding site2171Substrate By similarity
Binding site3341Substrate By similarity
Binding site3531Substrate By similarity
Binding site3861Pyridoxal phosphate By similarity
Binding site4141Pyridoxal phosphate By similarity
Binding site4421Pyridoxal phosphate By similarity
Binding site4741Pyridoxal phosphate By similarity
Binding site4751Pyridoxal phosphate By similarity
Binding site5621Substrate By similarity

Amino acid modifications

Modified residue4451N6-(pyridoxal phosphate)lysine Probable

Natural variations

Alternative sequence95 – 11824HPLPA…QMNQR → FRLDTPCLPQARALQANALS WQHR in isoform 2.
VSP_025925
Alternative sequence119 – 640522Missing in isoform 2.
VSP_025924

Experimental info

Sequence conflict21E → D in CAA68506. Ref.2
Sequence conflict61R → G in CAA68506. Ref.2
Sequence conflict431P → Q in CAA68506. Ref.2
Sequence conflict471A → G in CAA68506. Ref.2
Sequence conflict56 – 572QQ → HK in CAA68506. Ref.2
Sequence conflict691K → Q in CAA68506. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 1, 1991. Version 2.
Checksum: 5E952DCCFFD6873F

FASTA64070,581
        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 

« Hide

Isoform 2 [UniParc].

Checksum: E4B74A55EDB54F70
Show »

FASTA11812,961

References

« Hide 'large scale' references
[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]"Sequence of human 5-aminolevulinate synthase cDNA."
Bawden M.J., Borthwick I.A., Healy H.M., Morris C.P., May B.K., Elliott W.H.
Nucleic Acids Res. 15:8563-8563(1987) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X56351 mRNA. Translation: CAA39794.1.
Y00451 mRNA. Translation: CAA68506.1. Frameshift.
AB063322 mRNA. Translation: BAB93514.1.
BC011798 mRNA. Translation: AAH11798.1.
CCDSCCDS2847.1. [P13196-1]
PIRSYHUAL. S13682.
RefSeqNP_000679.1. NM_000688.5. [P13196-1]
NP_954635.1. NM_199166.2. [P13196-1]
XP_005265002.1. XM_005264945.1. [P13196-1]
UniGeneHs.476308.

3D structure databases

ProteinModelPortalP13196.
SMRP13196. Positions 199-578.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106713. 13 interactions.
IntActP13196. 12 interactions.
MINTMINT-4774107.
STRING9606.ENSP00000309259.

Chemistry

DrugBankDB00145. Glycine.
DB00114. Pyridoxal Phosphate.

PTM databases

PhosphoSiteP13196.

Polymorphism databases

DMDM122824.

Proteomic databases

MaxQBP13196.
PaxDbP13196.
PRIDEP13196.

Protocols and materials databases

DNASU211.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310271; ENSP00000309259; ENSG00000023330. [P13196-1]
ENST00000394965; ENSP00000378416; ENSG00000023330. [P13196-1]
ENST00000469224; ENSP00000417719; ENSG00000023330. [P13196-1]
ENST00000484952; ENSP00000418779; ENSG00000023330. [P13196-1]
GeneID211.
KEGGhsa:211.
UCSCuc003dcx.2. human. [P13196-2]
uc003dcy.2. human. [P13196-1]

Organism-specific databases

CTD211.
GeneCardsGC03P052207.
HGNCHGNC:396. ALAS1.
HPACAB017498.
HPA035860.
MIM125290. gene.
neXtProtNX_P13196.
PharmGKBPA24688.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0156.
HOGENOMHOG000221020.
HOVERGENHBG005954.
InParanoidP13196.
KOK00643.
OMAPQMMSYF.
OrthoDBEOG7TQV0F.
PhylomeDBP13196.
TreeFamTF300724.

Enzyme and pathway databases

BioCycMetaCyc:HS00424-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_200751. Organelle biogenesis and maintenance.
UniPathwayUPA00251; UER00375.

Gene expression databases

ArrayExpressP13196.
BgeeP13196.
CleanExHS_ALAS1.
GenevestigatorP13196.

Family and domain databases

Gene3D3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
InterProIPR010961. 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]
PfamPF00155. Aminotran_1_2. 1 hit.
PF09029. Preseq_ALAS. 2 hits.
[Graphical view]
SUPFAMSSF53383. SSF53383. 1 hit.
TIGRFAMsTIGR01821. 5aminolev_synth. 1 hit.
PROSITEPS00599. AA_TRANSFER_CLASS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiALAS1.
GenomeRNAi211.
NextBio846.
PROP13196.
SOURCESearch...

Entry information

Entry nameHEM1_HUMAN
AccessionPrimary (citable) accession number: P13196
Entry history
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: August 1, 1991
Last modified: July 9, 2014
This is version 151 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM