Q9BZ23 (PANK2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pantothenate kinase 2, mitochondrial
Short name=hPanK2
EC=2.7.1.33

Alternative name(s):
Pantothenic acid kinase 2

Gene names

Name:	PANK2
Synonyms:	C20orf48

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	570 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be the master regulator of the CoA biosynthesis By similarity.
Catalytic activity	ATP + (R)-pantothenate = ADP + (R)-4'-phosphopantothenate.
Enzyme regulation	Regulated by feedback inhibition by CoA and its thioesters.
Pathway	Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5.
Subcellular location	Isoform 1: Mitochondrion Ref.1. Isoform 2: Cytoplasm Potential Ref.1. Isoform 3: Cytoplasm Potential Ref.1. Isoform 4: Cytoplasm Potential Ref.1.
Tissue specificity	Ubiquitous. Ref.7
Involvement in disease	Defects in PANK2 are the cause of neurodegeneration with brain iron accumulation type 1 (NBIA1) [MIM:234200]; also known as pantothenate kinase-associated neurodegeneration (PKAN) or Hallervorden-Spatz syndrome (HSS). It is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in the first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in the second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in the first decade with slow progression or onset in the second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. Ref.7 Ref.14 Ref.15 Defects in PANK2 are the cause of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) [MIM:607236]. HARP is a rare syndrome with many clinical similarities to NBIA1.
Miscellaneous	The HSS syndrome has been proposed to be renamed because of the unethical activities of Julius Hallervorden and Hugo Spatz during world war II.
Sequence similarities	Belongs to the type II pantothenate kinase family.
Sequence caution	The sequence BAC05173.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Coenzyme A biosynthesis
Cellular component	Cytoplasm Mitochondrion
Coding sequence diversity	Alternative initiation Alternative splicing Polymorphism
Disease	Disease mutation Neurodegeneration
Domain	Transit peptide
Ligand	ATP-binding Nucleotide-binding
Molecular function	Kinase Transferase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell death Inferred from electronic annotation. Source: UniProtKB-KW coenzyme A biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW pantothenate metabolic process Traceable author statement. Source: Reactome
Cellular component	mitochondrial intermembrane space Traceable author statement. Source: Reactome nucleus Inferred from direct assay. Source: HPA
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW pantothenate kinase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DHX36	Q9H2U1	1	EBI-1058434,EBI-1047643
LXN	Q9BS40	1	EBI-1058434,EBI-1044504
QRICH2	Q9H0J4	1	EBI-1058434,EBI-1053637
RASGRF2	O14827	1	EBI-1058434,EBI-1055500
VDAC1	P21796	1	EBI-1058434,EBI-354158
YWHAQ	P27348	1	EBI-1058434,EBI-359854

Alternative products

This entry describes 4 isoforms produced by alternative splicing and alternative initiation. [Align] [Select]

Isoform 1 (identifier: Q9BZ23-1)

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.

Isoform 3 (identifier: Q9BZ23-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-291: Missing.

Isoform 2 (identifier: Q9BZ23-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-123: Missing.

Note: Produced by alternative initiation at Met-124 of isoform 1.

Isoform 4 (identifier: Q9BZ23-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-110: Missing.
     111-111: L → M

Note: May be produced by alternative initiation at Leu-111 of isoform 1. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 46	46	Mitochondrion Potential
	Chain	47 – 570	524	Pantothenate kinase 2, mitochondrial		PRO_0000023201
Regions
	Compositional bias	236 – 243	8	Poly-Glu
Amino acid modifications
	Modified residue	168	1	Phosphoserine Ref.10 Ref.11 Ref.12
	Modified residue	169	1	Phosphoserine Ref.10 Ref.11 Ref.12
	Modified residue	189	1	Phosphoserine Ref.8 Ref.9 Ref.10 Ref.11 Ref.12
Natural variations
	Alternative sequence	1 – 291	291	Missing in isoform 3.		VSP_007424
	Alternative sequence	1 – 123	123	Missing in isoform 2.		VSP_018825
	Alternative sequence	1 – 110	110	Missing in isoform 4.		VSP_038494
	Alternative sequence	111	1	L → M in isoform 4.		VSP_038495
	Natural variant	94	1	R → P. Ref.3		VAR_054484
	Natural variant	111	1	L → Q. Ref.3 Ref.7		VAR_015152
	Natural variant	126	1	G → A. Ref.1 Ref.3 Ref.7 Corresponds to variant rs3737084 [ dbSNP | Ensembl ].		VAR_015153
	Natural variant	134	1	E → G in NBIA1. Ref.14		VAR_060934
	Natural variant	219	1	G → V in NBIA1; atypical. Ref.7		VAR_015154
	Natural variant	234	1	T → A in NBIA1; atypical. Ref.7		VAR_015155
	Natural variant	249	1	R → P in NBIA1. Ref.14		VAR_060935
	Natural variant	264	1	R → W in NBIA1. Ref.7		VAR_015156
	Natural variant	278	1	R → C in NBIA1; atypical. Ref.7		VAR_015157
	Natural variant	278	1	R → L in NBIA1. Ref.14		VAR_060936
	Natural variant	282	1	L → V in NBIA1. Ref.7		VAR_015158
	Natural variant	286	1	R → C in NBIA1. Ref.7		VAR_015159
	Natural variant	322	1	E → D in NBIA1; atypical. Ref.14		VAR_060937
	Natural variant	322	1	E → G in NBIA1. Ref.14		VAR_060938
	Natural variant	327	1	T → I in NBIA1. Ref.7		VAR_015160
	Natural variant	351	1	S → P in NBIA1; atypical. Ref.7		VAR_015161
	Natural variant	355	1	N → S in NBIA1; atypical. Ref.7		VAR_015162
	Natural variant	357	1	R → Q in NBIA1. Ref.14		VAR_060939
	Natural variant	398	1	A → T in NBIA1. Ref.14		VAR_060940
	Natural variant	404	1	N → I in NBIA1; atypical. Ref.7		VAR_015163
	Natural variant	413	1	L → P in NBIA1. Ref.7		VAR_015164
	Natural variant	425	1	Missing in NBIA1.		VAR_060941
	Natural variant	428	1	C → Y in NBIA1. Ref.14		VAR_060942
	Natural variant	447	1	D → N in NBIA1. Ref.14		VAR_060943
	Natural variant	471	1	S → N in NBIA1. Ref.7		VAR_015165
	Natural variant	497	1	I → T in NBIA1. Ref.7		VAR_015166
	Natural variant	500	1	N → I in NBIA1. Ref.7		VAR_015167
	Natural variant	501	1	I → T in NBIA1; atypical. Ref.14		VAR_060944
	Natural variant	509	1	A → V in NBIA1. Ref.14		VAR_060945
	Natural variant	511	1	N → D in NBIA1. Ref.14		VAR_060946
	Natural variant	521	1	G → R in NBIA1; classic and atypical forms. Ref.7 Ref.15		VAR_015168
	Natural variant	528	1	T → M in NBIA1; classic and atypical forms. Ref.7		VAR_015169
	Natural variant	532	1	R → W in NBIA1. Ref.14		VAR_060947
	Natural variant	563	1	L → P in NBIA1. Ref.14		VAR_060948
	Natural variant	570	1	P → L in NBIA1; atypical. Ref.14 Ref.15		VAR_060949
Experimental info
	Sequence conflict	460	1	R → G in BAB13897. Ref.2
	Sequence conflict	475	1	M → K in BAB13897. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 28, 2006. Version 3. Checksum: 9061A60D6CA93BBB	FASTA	570	62,681
	10 20 30 40 50 60 MRRLGPFHPR VHWAAPPSLS SGLHRLLFLR GTRIPSSTTL SPPRHDSLSL DGGTVNPPRV 70 80 90 100 110 120 REPTGREAFG PSPASSDWLP ARWRNGRGGR PRARLCSGWT AAEEARRNPT LGGLLGRQRL 130 140 150 160 170 180 LLRMGGGRLG APMERHGRAS ATSVSSAGEQ AAGDPEGRRQ EPLRRRASSA SVPAVGASAE 190 200 210 220 230 240 GTRRDRLGSY SGPTSVSRQR VESLRKKRPL FPWFGLDIGG TLVKLVYFEP KDITAEEEEE 250 260 270 280 290 300 EVESLKSIRK YLTSNVAYGS TGIRDVHLEL KDLTLCGRKG NLHFIRFPTH DMPAFIQMGR 310 320 330 340 350 360 DKNFSSLHTV FCATGGGAYK FEQDFLTIGD LQLCKLDELD CLIKGILYID SVGFNGRSQC 370 380 390 400 410 420 YYFENPADSE KCQKLPFDLK NPYPLLLVNI GSGVSILAVY SKDNYKRVTG TSLGGGTFFG 430 440 450 460 470 480 LCCLLTGCTT FEEALEMASR GDSTKVDKLV RDIYGGDYER FGLPGWAVAS SFGNMMSKEK 490 500 510 520 530 540 REAVSKEDLA RATLITITNN IGSIARMCAL NENINQVVFV GNFLRINTIA MRLLAYALDY 550 560 570 WSKGQLKALF SEHEGYFGAV GALLELLKIP
	Isoform 3 [UniParc]. Checksum: F5702EFD761FEB2B	FASTA	279	30,753
	10 20 30 40 50 60 MPAFIQMGRD KNFSSLHTVF CATGGGAYKF EQDFLTIGDL QLCKLDELDC LIKGILYIDS 70 80 90 100 110 120 VGFNGRSQCY YFENPADSEK CQKLPFDLKN PYPLLLVNIG SGVSILAVYS KDNYKRVTGT 130 140 150 160 170 180 SLGGGTFFGL CCLLTGCTTF EEALEMASRG DSTKVDKLVR DIYGGDYERF GLPGWAVASS 190 200 210 220 230 240 FGNMMSKEKR EAVSKEDLAR ATLITITNNI GSIARMCALN ENINQVVFVG NFLRINTIAM 250 260 270 RLLAYALDYW SKGQLKALFS EHEGYFGAVG ALLELLKIP
	Isoform 2 [UniParc]. Checksum: 07B4333A838BD6A8	FASTA	447	49,117
	10 20 30 40 50 60 MGGGRLGAPM ERHGRASATS VSSAGEQAAG DPEGRRQEPL RRRASSASVP AVGASAEGTR 70 80 90 100 110 120 RDRLGSYSGP TSVSRQRVES LRKKRPLFPW FGLDIGGTLV KLVYFEPKDI TAEEEEEEVE 130 140 150 160 170 180 SLKSIRKYLT SNVAYGSTGI RDVHLELKDL TLCGRKGNLH FIRFPTHDMP AFIQMGRDKN 190 200 210 220 230 240 FSSLHTVFCA TGGGAYKFEQ DFLTIGDLQL CKLDELDCLI KGILYIDSVG FNGRSQCYYF 250 260 270 280 290 300 ENPADSEKCQ KLPFDLKNPY PLLLVNIGSG VSILAVYSKD NYKRVTGTSL GGGTFFGLCC 310 320 330 340 350 360 LLTGCTTFEE ALEMASRGDS TKVDKLVRDI YGGDYERFGL PGWAVASSFG NMMSKEKREA 370 380 390 400 410 420 VSKEDLARAT LITITNNIGS IARMCALNEN INQVVFVGNF LRINTIAMRL LAYALDYWSK 430 440 GQLKALFSEH EGYFGAVGAL LELLKIP
	Isoform 4 [UniParc]. Checksum: 5453A42C35481D52	FASTA	460	50,582
	10 20 30 40 50 60 MGGLLGRQRL LLRMGGGRLG APMERHGRAS ATSVSSAGEQ AAGDPEGRRQ EPLRRRASSA 70 80 90 100 110 120 SVPAVGASAE GTRRDRLGSY SGPTSVSRQR VESLRKKRPL FPWFGLDIGG TLVKLVYFEP 130 140 150 160 170 180 KDITAEEEEE EVESLKSIRK YLTSNVAYGS TGIRDVHLEL KDLTLCGRKG NLHFIRFPTH 190 200 210 220 230 240 DMPAFIQMGR DKNFSSLHTV FCATGGGAYK FEQDFLTIGD LQLCKLDELD CLIKGILYID 250 260 270 280 290 300 SVGFNGRSQC YYFENPADSE KCQKLPFDLK NPYPLLLVNI GSGVSILAVY SKDNYKRVTG 310 320 330 340 350 360 TSLGGGTFFG LCCLLTGCTT FEEALEMASR GDSTKVDKLV RDIYGGDYER FGLPGWAVAS 370 380 390 400 410 420 SFGNMMSKEK REAVSKEDLA RATLITITNN IGSIARMCAL NENINQVVFV GNFLRINTIA 430 440 450 460 MRLLAYALDY WSKGQLKALF SEHEGYFGAV GALLELLKIP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria." Hoertnagel K., Prokisch H., Meitinger T. Hum. Mol. Genet. 12:321-327(2003) [PubMed: 12554685] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-126, SUBCELLULAR LOCATION. Tissue: Brain.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 106-570 (ISOFORM 1). Tissue: Testis.
[3]	NIEHS SNPs program Submitted (MAR-2008) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PRO-94; GLN-111 AND ALA-126.
[4]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 406-570. Tissue: Brain.
[7]	"A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome." Zhou B., Westaway S.K., Levinson B., Johnson M.A., Gitschier J., Hayflick S.J. Nat. Genet. 28:345-349(2001) [PubMed: 11479594] [Abstract] Cited for: IDENTIFICATION, ALTERNATIVE INITIATION AT LEU-111, VARIANTS GLN-111 AND ALA-126, VARIANTS NBIA1 VAL-219; ALA-234; TRP-264; CYS-278; VAL-282; CYS-286; ILE-327; PRO-351; SER-355; ILE-404; PRO-413; ASN-471; THR-497; ILE-500; ARG-521 AND MET-528, TISSUE SPECIFICITY.
[8]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-189, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-189, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168; SER-169 AND SER-189, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168; SER-169 AND SER-189, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[12]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168; SER-169 AND SER-189, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[13]	"HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration." Ching K.H.L., Westaway S.K., Gitschier J., Higgins J.J., Hayflick S.J. Neurology 58:1673-1674(2002) [PubMed: 12058097] [Abstract] Cited for: INVOLVEMENT IN HARP.
[14]	"Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome." Hayflick S.J., Westaway S.K., Levinson B., Zhou B., Johnson M.A., Ching K.H., Gitschier J. N. Engl. J. Med. 348:33-40(2003) [PubMed: 12510040] [Abstract] Cited for: VARIANTS NBIA1 GLY-134; PRO-249; LEU-278; ASP-322; GLY-322; GLN-357; THR-398; LEU-425 DEL; TYR-428; ASN-447; THR-501; VAL-509; ASP-511; TRP-532; PRO-563 AND LEU-570.
[15]	"Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions." Nicholas A.P., Earnst K.S., Marson D.C. Mov. Disord. 20:880-886(2005) [PubMed: 15834858] [Abstract] Cited for: VARIANTS NBIA1 ARG-521 AND LEU-570.
+	Additional computationally mapped references.

Web resources

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF494409 mRNA. Translation: AAN32907.1. AK021791 mRNA. Translation: BAB13897.1. AK097796 mRNA. Translation: BAC05173.1. Different initiation. EU595875 Genomic DNA. Translation: ACD11492.1. AL353194, AL031670 Genomic DNA. Translation: CAI11036.1. AL353194, AL031670 Genomic DNA. Translation: CAI11037.1. AL031670, AL353194 Genomic DNA. Translation: CAI22385.1. AL031670, AL353194 Genomic DNA. Translation: CAI22386.1. CH471133 Genomic DNA. Translation: EAX10478.1. CH471133 Genomic DNA. Translation: EAX10476.1. AL713654 mRNA. Translation: CAD28463.1. BK000010 mRNA. Translation: DAA00004.1.
IPI	IPI00171176. IPI00550398. IPI00556350. IPI00954590.
RefSeq	NP_079236.3. NM_024960.4. NP_705902.2. NM_153638.2. NP_705904.1. NM_153640.2.
UniGene	Hs.516859.
3D structure databases
ProteinModelPortal	Q9BZ23.
SMR	Q9BZ23. Positions 208-569.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-3319143.
STRING	Q9BZ23.
PTM databases
PhosphoSite	Q9BZ23.
Polymorphism databases
DMDM	118572682.
Proteomic databases
PRIDE	Q9BZ23.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000316562; ENSP00000313377; ENSG00000125779.
GeneID	80025.
KEGG	hsa:80025.
UCSC	uc002wkc.1. human.
Organism-specific databases
CTD	80025.
GeneCards	GC20P003869.
HGNC	HGNC:15894. PANK2.
HPA	HPA008440. HPA021795.
MIM	234200. phenotype. 606157. gene. 607236. phenotype.
neXtProt	NX_Q9BZ23.
Orphanet	216866. Classic pantothenate kinase associated neurodegeneration.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000020719.
HOVERGEN	HBG053495.
InParanoid	Q9BZ23.
OMA	AYGKTGH.
OrthoDB	EOG4PZJ6Z.
PhylomeDB	Q9BZ23.
Enzyme and pathway databases
BRENDA	2.7.1.33. 2681.
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q9BZ23.
Bgee	Q9BZ23.
CleanEx	HS_PANK2.
Genevestigator	Q9BZ23.
Family and domain databases
InterPro	IPR004567. Type_II_PanK. [Graphical view]
KO	K09680.
Pfam	PF03630. Fumble. 1 hit. [Graphical view]
TIGRFAMs	TIGR00555. PanK_eukar. 1 hit.
ProtoNet	Search...
Other
NextBio	70178.
SOURCE	Search...

Entry information

Entry name

PANK2_HUMAN

Accession

Primary (citable) accession number: Q9BZ23
Secondary accession number(s): B1AK33 , B2Z3X0, D3DVZ0, Q5T7I2, Q5T7I4, Q7RTX5, Q8N7Q4, Q8TCR5, Q9BYW5, Q9HAF2

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 17, 2003
Last sequence update:	November 28, 2006
Last modified:	December 14, 2011
This is version 106 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.