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ALAS1 (human)

Overview ALAS1 the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] Protein type: EC 2.3.1.37; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Transferase; Mitochondrial; Amino Acid Metabolism - glycine, serine and threonine Cellular Component: mitochondrion; mitochondrial matrix; cytoplasm; nucleolus; nucleus Molecular Function: 5-aminolevulinate synthase activity; pyridoxal phosphate binding Biological Process: porphyrin metabolic process; cellular lipid metabolic process; protoporphyrinogen IX biosynthetic process; heme biosynthetic process Reference #:  P13196 (UniProtKB) Alt. Names/Synonyms: 5-aminolevulinate synthase, nonspecific, mitochondrial; 5-aminolevulinic acid synthase 1; ALAS; ALAS-H; ALAS1; ALAS3; ALASH; aminolevulinate, delta-, synthase 1; Delta-ALA synthase 1; Delta-aminolevulinate synthase 1; HEM1; MIG4; migration-inducing protein 4 Gene Symbols: ALAS1 Molecular weight: 70,581 Da Basal Isoelectric point: 8.74  Predict pI for various phosphorylation states

Select Structure to View Below ALAS1

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	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		K21	VPQAFLQKAGKSLLF
0	3		S127	SSVFCKASLELQEDV
0	1		K157-u	GPSVVSVkTDGGDPS
0	2		K168-u	GDPSGLLkNFQDIMQ
0	1		K176-a	NFQDIMQkQRPERVS
0	1		Y216-p	EKKNDHTyRVFKTVN
0	1		K242-u	YSDSLITkKQVSVWC
0	1		T280-p	HGAGAGGtRNIsGTs
0	1		S284-p	AGGtRNIsGTsKFHV
0	1		S287-p	tRNIsGTsKFHVDLE
0	1		K435	DRDGVMPKMDIISGT
0	1		K539	VRVADAAKNTEVCDE
0	2		Y628-p	MSEREKSyFSGLSKL

	mouse
K21-u	VPQAFLQkAGKSLLF
S129-p	SSVFRKAsLELQEDV
K159	PPSLVNVKTDGEDPS
K170-u	EDPSRLLkNFQDIMR
K178	NFQDIMRKQRPERVS
Y218	EKKNDHTYRVFKTVN
K244	YTDSLITKKQVSVWC
T282	HGAGAGGTRNISGTS
S286	AGGTRNISGTSKFHV
S289	TRNISGTSKFHVELE
K437-u	DRDGVMPkMDIISGT
K541-u	VRVADAAkNTEICDE
Y630	MSEREKAYFSGMSKM

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