MGP Database

MGP005954

Record overview

MGPD ID	MGP005954
Gene ID	80025
Species	Homo sapiens (Human)
Gene Name	pantothenate kinase 2
Gene Symbol	PANK2
Synonyms	HSS; HARP; PKAN; NBIA1; C20orf48;
Alternate names	pantothenate kinase 2, mitochondrial; Hallervorden-Spatz syndrome; pantothenic acid kinase 2;
Chromosome	20
Map Location	20p13
Summary	This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
Orthologs	View orthologs and multiple alignments for PANK2

Proteins

pantothenate kinase 2, mitochondrial isoform 1 preproprotein

Refseq ID:	NP_705902
Protein GI:	85838513
UniProt ID:	Q9BZ23
mRNA ID:	NM_153638
Length:	570
RefSeq Status:

MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRVREPTGREAFGPSPASSDWLPARWRNGRGGRPRARLCSGWT
AAEEARRNPTLGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGRRQEPLRRRASSASVPAVGASAEGTRRDRLGSYSGPTSVSRQR
VESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEEEVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGR
DKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVY
SKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNN
IGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP

transit_peptide: 1..31
calculated_mol_wt: 3563
peptide sequence: 
MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRG

transit_peptide: 111..140
calculated_mol_wt: 3187
peptide sequence: 
LGGLLGRQRLLLRMGGGRLGAPMERHGRAS

mat_peptide: 141..570
product: pantothenate kinase 2, mitochondrial isoform 1
calculated_mol_wt: 47395
peptide sequence: 
ATSVSSAGEQAAGDPEGRRQEPLRRRASSASVPAVGASAEGTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEE
EVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELD
CLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASR
GDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDY
WSKGQLKALFSEHEGYFGAVGALLELLKIP

pantothenate kinase 2, mitochondrial isoform 2

Refseq ID:	NP_079236
Protein GI:	24430167
UniProt ID:	Q9BZ23
mRNA ID:	NM_024960
Length:	279
RefSeq Status:

pantothenate kinase 2, mitochondrial isoform 2
`MPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIG SGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLAR ATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP`

Refseq ID:	NP_705904
Protein GI:	24430175
UniProt ID:	Q6P1K9
mRNA ID:	NM_153640
Length:	279
RefSeq Status:

Protein sequence is identical to GI:24430167 (mRNA isoform)