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Protein

5-aminolevulinate synthase

Gene

ALAS1

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Catalytic activityi

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

Cofactori

pyridoxal 5'-phosphateUniRule annotation

Pathwayi: protoporphyrin-IX biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes 5-aminolevulinate from glycine.UniRule annotation
Proteins known to be involved in this subpathway in this organism are:
  1. 5-aminolevulinate synthase, nonspecific, mitochondrial (ALAS1), 5-aminolevulinate synthase (ALAS1), 5-aminolevulinate synthase, erythroid-specific, mitochondrial (ALAS2)
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.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

AcyltransferaseUniRule annotation, Transferase

Keywords - Biological processi

Heme biosynthesisUniRule annotation

Keywords - Ligandi

Pyridoxal phosphateUniRule annotation

Enzyme and pathway databases

UniPathwayiUPA00251; UER00375.

Names & Taxonomyi

Protein namesi
Recommended name:
5-aminolevulinate synthaseUniRule annotation (EC:2.3.1.37UniRule annotation)
Alternative name(s):
5-aminolevulinic acid synthaseUniRule annotation
Delta-ALA synthaseUniRule annotation
Delta-aminolevulinate synthaseUniRule annotation
Gene namesi
Name:ALAS1Imported
ORF Names:hCG_42575Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Subcellular locationi

  • Mitochondrion matrix UniRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

MitochondrionUniRule annotation

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24688.

Expressioni

Gene expression databases

BgeeiENSG00000023330.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000309259.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 137Preseq_ALASInterPro annotationAdd BLAST136
Domaini245 – 590Aminotran_1_2InterPro annotationAdd BLAST346

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG1360. Eukaryota.
COG0156. LUCA.
HOVERGENiHBG005954.
KOiK00643.
OMAiPQMMSYF.
OrthoDBiEOG091G043U.

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. 1 hit.
[Graphical view]
SUPFAMiSSF53383. SSF53383. 1 hit.
TIGRFAMsiTIGR01821. 5aminolev_synth. 1 hit.
PROSITEiPS00599. AA_TRANSFER_CLASS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q5JAM2-1 [UniParc]FASTAAdd to basket

« 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:May 10, 2005 - v1
Checksum:i5E952DCCFFD6873F
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY260745 mRNA. Translation: AAP94018.1.
AK312566 mRNA. Translation: BAG35461.1.
CH471055 Genomic DNA. Translation: EAW65188.1.
CH471055 Genomic DNA. Translation: EAW65189.1.
CH471055 Genomic DNA. Translation: EAW65190.1.
RefSeqiNP_000679.1. NM_000688.5.
NP_001291372.1. NM_001304443.1.
NP_954635.1. NM_199166.2.
UniGeneiHs.476308.
Hs.731798.

Genome annotation databases

GeneIDi211.
KEGGihsa:211.
UCSCiuc003dcy.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY260745 mRNA. Translation: AAP94018.1.
AK312566 mRNA. Translation: BAG35461.1.
CH471055 Genomic DNA. Translation: EAW65188.1.
CH471055 Genomic DNA. Translation: EAW65189.1.
CH471055 Genomic DNA. Translation: EAW65190.1.
RefSeqiNP_000679.1. NM_000688.5.
NP_001291372.1. NM_001304443.1.
NP_954635.1. NM_199166.2.
UniGeneiHs.476308.
Hs.731798.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000309259.

Protocols and materials databases

DNASUi211.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi211.
KEGGihsa:211.
UCSCiuc003dcy.3. human.

Organism-specific databases

CTDi211.
PharmGKBiPA24688.

Phylogenomic databases

eggNOGiKOG1360. Eukaryota.
COG0156. LUCA.
HOVERGENiHBG005954.
KOiK00643.
OMAiPQMMSYF.
OrthoDBiEOG091G043U.

Enzyme and pathway databases

UniPathwayiUPA00251; UER00375.

Miscellaneous databases

ChiTaRSiALAS1. human.
GenomeRNAii211.

Gene expression databases

BgeeiENSG00000023330.

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. 1 hit.
[Graphical view]
SUPFAMiSSF53383. SSF53383. 1 hit.
TIGRFAMsiTIGR01821. 5aminolev_synth. 1 hit.
PROSITEiPS00599. AA_TRANSFER_CLASS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiQ5JAM2_HUMAN
AccessioniPrimary (citable) accession number: Q5JAM2
Entry historyi
Integrated into UniProtKB/TrEMBL: May 10, 2005
Last sequence update: May 10, 2005
Last modified: November 2, 2016
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiUnreviewed (UniProtKB/TrEMBL)
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.UniRule annotation

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.