Reviewed, UniProtKB/Swiss-Prot Q8VC19 (HEM1_MOUSE)

Names and origin

Protein names

Recommended name:
    5-aminolevulinate synthase, nonspecific, mitochondrial
      Short name=ALAS-H
    EC=2.3.1.37
Alternative name(s):
    5-aminolevulinic acid synthase 1
    Delta-aminolevulinate synthase 1
    Delta-ALA synthase 1

Gene names

Name:

Alas1

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	642 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Catalytic activity	Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO2.
Cofactor	Pyridoxal phosphate By similarity.
Pathway	Porphyrin metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.
Subunit structure	Homodimer By similarity.
Subcellular location	Mitochondrion matrix By similarity.
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.

Ontologies

Keywords
Biological process	Heme biosynthesis
Cellular component	Mitochondrion
Domain	Transit peptide
Ligand	Pyridoxal phosphate
Molecular function	Acyltransferase Transferase
Gene Ontology (GO)
Biological process	heme biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrial matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	5-aminolevulinate synthase activity Inferred from electronic annotation. Source: EC pyridoxal phosphate binding Inferred from electronic annotation. Source: InterPro transferase activity, transferring nitrogenous groups Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 56	56	Mitochondrion By similarity
	Chain	57 – 642	586	5-aminolevulinate synthase, nonspecific, mitochondrial		PRO_0000001231
Amino acid modifications
	Modified residue	447	1	N6-(pyridoxal phosphate)lysine By similarity
Experimental info
	Sequence conflict	192	1	L → S in AAA91867. Ref.2
	Sequence conflict	391	1	Missing in AAH22110. Ref.1
	Sequence conflict	463	1	I → T in AAA91867. Ref.2
	Sequence conflict	501	1	A → P in AAA91867. Ref.2
	Sequence conflict	602	1	E → V in AAA91867. Ref.2
	Sequence conflict	625	1	E → V in AAA91867. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8VC19-1 [UniParc]. Last modified September 27, 2004. Version 2. Checksum: 34E0CBEB8599CFE5	FASTA	642	71,018
	10 20 30 40 50 60 METVVRRCPF LSRVPQAFLQ KAGKSLLFYA QNCPKMMEVG AKPAPRTLST SAVHCQQVKE 70 80 90 100 110 120 TPPANEKEKT AKAAVQQAPD ESQMAQTPDG TQLPSGHPSP ATSQGSGSKC PFLAAQLSQT 130 140 150 160 170 180 GSSVFRKASL ELQEDVQEMH AVRKEAAQSP VPPSLVNVKT DGEDPSRLLK NFQDIMRKQR 190 200 210 220 230 240 PERVSHLLQD NLPKSVSTFQ YDHFFEKKID EKKNDHTYRV FKTVNRRAQI FPMADDYTDS 250 260 270 280 290 300 LITKKQVSVW CSNDYLGMSR HPRVCGAVME TVKQHGAGAG GTRNISGTSK FHVELEQALA 310 320 330 340 350 360 DLHGKDAALL FSSCFVANDS TLFTLAKMMP GCEIYSDSGN HASMIQGIRN SRVPKYIFRH 370 380 390 400 410 420 NDVNHLRELL QRSDPSVPKI VAFETVHSMD GAVCPLEELC DVAHEFGAIT FVDEVHAVGL 430 440 450 460 470 480 YGARGGGIGD RDGVMPKMDI ISGTLGKAFG CVGGYIASTS LLIDTVRSYA AGFIFTTSLP 490 500 510 520 530 540 PMLLAGALES VRILKSSEGR ALRRQHQRNV KLLRQMLMDA GLPVIHCPSH IIPVRVADAA 550 560 570 580 590 600 KNTEICDELM TRHNIYVQAI NYPTVPRGEE LLRIAPTPHH TPQMMNFFVE KLLVTWKRVG 610 620 630 640 LELKPHSSAE CNFCRRPLHF EVMSEREKAY FSGMSKMVSA QA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Strain: FVB/N. Tissue: Liver.
[2]	Young E.G., Dierks P.M. Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 188-642. Strain: DBA/2. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	BC022110 mRNA. Translation: AAH22110.1. M63245 mRNA. Translation: AAA91867.1.
IPI	IPI00121287.
RefSeq	NP_065584.2.
UniGene	Mm.290578
3D structure databases
SMR	Q8VC19. Positions 200-595.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8VC19.
PTM databases
PhosphoSite	Q8VC19.
Proteomic databases
PRIDE	Q8VC19.
Genome annotation databases
Ensembl	ENSMUST00000112524; ENSMUSP00000108143; ENSMUSG00000032786; Mus musculus. [Genome view]
GeneID	11655.
KEGG	mmu:11655.
UCSC	uc009rji.1. mouse.
Organism-specific databases
CTD	11655.
MGI	MGI:87989. Alas1.
Phylogenomic databases
HOGENOM	HBG649839.
HOVERGEN	Q8VC19.
InParanoid	Q8VC19.
OMA	IIPVRVA.
OrthoDB	EOG9K6JPV.
PhylomeDB	Q8VC19.
Enzyme and pathway databases
BRENDA	2.3.1.37. 244.
Gene expression databases
ArrayExpress	Q8VC19.
Bgee	Q8VC19.
CleanEx	MM_ALAS1.
Genevestigator	Q8VC19.
GermOnline	ENSMUSG00000032786. Mus musculus.
Family and domain databases
InterPro	IPR010961. 4pyrrol_synth_NH2levulA_synth. IPR001917. Aminotrans_II_pyridoxalP_BS. IPR004839. Aminotransferase_I/II. IPR015424. PyrdxlP-dep_Trfase_major_dom. IPR015421. PyrdxlP-dep_Trfase_major_sub1. [Graphical view]
Gene3D	G3DSA:3.40.640.10. PyrdxlP-dep_Trfase_major_sub1. 1 hit.
Pfam	PF00155. Aminotran_1_2. 1 hit. [Graphical view]
TIGRFAMs	TIGR01821. 5aminolev_synth. 1 hit.
PROSITE	PS00599. AA_TRANSFER_CLASS_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	279265.
SOURCE	Search...

Entry information

Entry name

HEM1_MOUSE

Accession

Primary (citable) accession number: Q8VC19
Secondary accession number(s): Q64453

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 27, 2004
Last sequence update:	September 27, 2004
Last modified:	February 9, 2010
This is version 69 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)