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Protein

5-aminolevulinate synthase, nonspecific, mitochondrial

Gene

ALAS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Miscellaneous

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

Catalytic activityi

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

Cofactori

Pathwayi: protoporphyrin-IX biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes 5-aminolevulinate from glycine.
Proteins known to be involved in this subpathway in this organism are:
  1. 5-aminolevulinate synthase, erythroid-specific, mitochondrial (ALAS2), 5-aminolevulinate synthase, nonspecific, mitochondrial (ALAS1), 5-aminolevulinate synthase (hemA), 5-aminolevulinate synthase (ALAS1), 5-aminolevulinate synthase (hemA)
This subpathway is part of the pathway protoporphyrin-IX biosynthesis, which is itself part of Porphyrin-containing compound metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes 5-aminolevulinate from glycine, the pathway protoporphyrin-IX biosynthesis and in Porphyrin-containing compound metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei217SubstrateBy similarity1
Binding sitei334SubstrateBy similarity1
Binding sitei353SubstrateBy similarity1
Binding sitei386Pyridoxal phosphateBy similarity1
Binding sitei414Pyridoxal phosphateBy similarity1
Binding sitei442Pyridoxal phosphateBy similarity1
Active sitei445By similarity1
Binding sitei474Pyridoxal phosphate; shared with dimeric partnerBy similarity1
Binding sitei475Pyridoxal phosphate; shared with dimeric partnerBy similarity1
Binding sitei562SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processHeme biosynthesis
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS00424-MONOMER
BRENDAi2.3.1.37 2681
ReactomeiR-HSA-189451 Heme biosynthesis
R-HSA-1989781 PPARA activates gene expression
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
UniPathwayi
UPA00251;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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000023330.14
HGNCiHGNC:396 ALAS1
MIMi125290 gene
neXtProtiNX_P13196

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi211
OpenTargetsiENSG00000023330
PharmGKBiPA24688

Chemistry databases

DrugBankiDB00145 Glycine
DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMutaiALAS1
DMDMi122824

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 56MitochondrionAdd BLAST56
ChainiPRO_000000123057 – 6405-aminolevulinate synthase, nonspecific, mitochondrialAdd BLAST584

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei445N6-(pyridoxal phosphate)lysineBy similarity1

Proteomic databases

EPDiP13196
PaxDbiP13196
PeptideAtlasiP13196
PRIDEiP13196
ProteomicsDBi52898
52899 [P13196-2]

PTM databases

iPTMnetiP13196
PhosphoSitePlusiP13196

Expressioni

Gene expression databases

BgeeiENSG00000023330 Expressed in 224 organ(s), highest expression level in right adrenal gland
CleanExiHS_ALAS1
ExpressionAtlasiP13196 baseline and differential
GenevisibleiP13196 HS

Organism-specific databases

HPAiCAB017498
HPA035860

Interactioni

Subunit structurei

Homodimer.

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106713, 64 interactors
IntActiP13196, 58 interactors
MINTiP13196
STRINGi9606.ENSP00000309259

Structurei

3D structure databases

ProteinModelPortaliP13196
SMRiP13196
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1360 Eukaryota
COG0156 LUCA
GeneTreeiENSGT00530000063111
HOGENOMiHOG000221020
HOVERGENiHBG005954
InParanoidiP13196
KOiK00643
OMAiPQMMSYF
OrthoDBiEOG091G043U
PhylomeDBiP13196
TreeFamiTF300724

Family and domain databases

Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 1 hit
InterProiView protein in InterPro
IPR010961 4pyrrol_synth_NH2levulA_synth
IPR015118 5aminolev_synth_preseq
IPR001917 Aminotrans_II_pyridoxalP_BS
IPR004839 Aminotransferase_I/II
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major
PfamiView protein in Pfam
PF00155 Aminotran_1_2, 1 hit
PF09029 Preseq_ALAS, 1 hit
SUPFAMiSSF53383 SSF53383, 1 hit
TIGRFAMsiTIGR01821 5aminolev_synth, 1 hit
PROSITEiView protein in PROSITE
PS00599 AA_TRANSFER_CLASS_2, 1 hit

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. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MESVVRRCPF LSRVPQAFLQ KAGKSLLFYA QNCPKMMEVG AKPAPRALST
60 70 80 90 100
AAVHYQQIKE TPPASEKDKT AKAKVQQTPD GSQQSPDGTQ LPSGHPLPAT
110 120 130 140 150
SQGTASKCPF LAAQMNQRGS SVFCKASLEL QEDVQEMNAV RKEVAETSAG
160 170 180 190 200
PSVVSVKTDG GDPSGLLKNF QDIMQKQRPE RVSHLLQDNL PKSVSTFQYD
210 220 230 240 250
RFFEKKIDEK KNDHTYRVFK TVNRRAHIFP MADDYSDSLI TKKQVSVWCS
260 270 280 290 300
NDYLGMSRHP RVCGAVMDTL KQHGAGAGGT RNISGTSKFH VDLERELADL
310 320 330 340 350
HGKDAALLFS SCFVANDSTL FTLAKMMPGC EIYSDSGNHA SMIQGIRNSR
360 370 380 390 400
VPKYIFRHND VSHLRELLQR SDPSVPKIVA FETVHSMDGA VCPLEELCDV
410 420 430 440 450
AHEFGAITFV DEVHAVGLYG ARGGGIGDRD GVMPKMDIIS GTLGKAFGCV
460 470 480 490 500
GGYIASTSSL IDTVRSYAAG FIFTTSLPPM LLAGALESVR ILKSAEGRVL
510 520 530 540 550
RRQHQRNVKL MRQMLMDAGL PVVHCPSHII PVRVADAAKN TEVCDELMSR
560 570 580 590 600
HNIYVQAINY PTVPRGEELL RIAPTPHHTP QMMNYFLENL LVTWKQVGLE
610 620 630 640
LKPHSSAECN FCRRPLHFEV MSEREKSYFS GLSKLVSAQA
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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C5B0H7C5B0_HUMAN
5-aminolevulinate synthase, nonspec...
ALAS1
117Annotation score:
H7C4H7H7C4H7_HUMAN
5-aminolevulinate synthase, nonspec...
ALAS1
237Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2E → D in CAA68506 (PubMed:3671094).Curated1
Sequence conflicti6R → G in CAA68506 (PubMed:3671094).Curated1
Sequence conflicti43P → Q in CAA68506 (PubMed:3671094).Curated1
Sequence conflicti47A → G in CAA68506 (PubMed:3671094).Curated1
Sequence conflicti56 – 57QQ → HK in CAA68506 (PubMed:3671094).Curated2
Sequence conflicti69K → Q in CAA68506 (PubMed:3671094).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02592595 – 118HPLPA…QMNQR → FRLDTPCLPQARALQANALS WQHR in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_025924119 – 640Missing in isoform 2. 1 PublicationAdd BLAST522

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001291372.1, NM_001304443.1 [P13196-1]
NP_001291373.1, NM_001304444.1
NP_954635.1, NM_199166.2 [P13196-1]
UniGeneiHs.476308
Hs.731798

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

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001291372.1, NM_001304443.1 [P13196-1]
NP_001291373.1, NM_001304444.1
NP_954635.1, NM_199166.2 [P13196-1]
UniGeneiHs.476308
Hs.731798

3D structure databases

ProteinModelPortaliP13196
SMRiP13196
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106713, 64 interactors
IntActiP13196, 58 interactors
MINTiP13196
STRINGi9606.ENSP00000309259

Chemistry databases

DrugBankiDB00145 Glycine
DB00114 Pyridoxal Phosphate

PTM databases

iPTMnetiP13196
PhosphoSitePlusiP13196

Polymorphism and mutation databases

BioMutaiALAS1
DMDMi122824

Proteomic databases

EPDiP13196
PaxDbiP13196
PeptideAtlasiP13196
PRIDEiP13196
ProteomicsDBi52898
52899 [P13196-2]

Protocols and materials databases

DNASUi211
Structural Biology KnowledgebaseSearch...

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

Organism-specific databases

CTDi211
DisGeNETi211
EuPathDBiHostDB:ENSG00000023330.14
GeneCardsiALAS1
HGNCiHGNC:396 ALAS1
HPAiCAB017498
HPA035860
MIMi125290 gene
neXtProtiNX_P13196
OpenTargetsiENSG00000023330
PharmGKBiPA24688
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1360 Eukaryota
COG0156 LUCA
GeneTreeiENSGT00530000063111
HOGENOMiHOG000221020
HOVERGENiHBG005954
InParanoidiP13196
KOiK00643
OMAiPQMMSYF
OrthoDBiEOG091G043U
PhylomeDBiP13196
TreeFamiTF300724

Enzyme and pathway databases

UniPathwayi
UPA00251;UER00375

BioCyciMetaCyc:HS00424-MONOMER
BRENDAi2.3.1.37 2681
ReactomeiR-HSA-189451 Heme biosynthesis
R-HSA-1989781 PPARA activates gene expression
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis

Miscellaneous databases

ChiTaRSiALAS1 human
GeneWikiiALAS1
GenomeRNAii211
PROiPR:P13196
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000023330 Expressed in 224 organ(s), highest expression level in right adrenal gland
CleanExiHS_ALAS1
ExpressionAtlasiP13196 baseline and differential
GenevisibleiP13196 HS

Family and domain databases

Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 1 hit
InterProiView protein in InterPro
IPR010961 4pyrrol_synth_NH2levulA_synth
IPR015118 5aminolev_synth_preseq
IPR001917 Aminotrans_II_pyridoxalP_BS
IPR004839 Aminotransferase_I/II
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major
PfamiView protein in Pfam
PF00155 Aminotran_1_2, 1 hit
PF09029 Preseq_ALAS, 1 hit
SUPFAMiSSF53383 SSF53383, 1 hit
TIGRFAMsiTIGR01821 5aminolev_synth, 1 hit
PROSITEiView protein in PROSITE
PS00599 AA_TRANSFER_CLASS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHEM1_HUMAN
AccessioniPrimary (citable) accession number: P13196
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: August 1, 1991
Last modified: November 7, 2018
This is version 192 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

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