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Q9BZ23

- PANK2_HUMAN

UniProt

Q9BZ23 - PANK2_HUMAN

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Protein

Pantothenate kinase 2, mitochondrial

Gene
PANK2, C20orf48
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May be the master regulator of the CoA biosynthesis By similarity.

Catalytic activityi

ATP + (R)-pantothenate = ADP + (R)-4'-phosphopantothenate.

Enzyme regulationi

Regulated by feedback inhibition by CoA and its thioesters.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei392 – 3921Acetyl-CoA By similarity
Binding sitei395 – 3951Acetyl-CoA By similarity
Binding sitei407 – 4071Acetyl-CoA By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. pantothenate kinase activity Source: UniProtKB-EC

GO - Biological processi

  1. aerobic respiration Source: Ensembl
  2. cell death Source: UniProtKB-KW
  3. coenzyme A biosynthetic process Source: UniProtKB-UniPathway
  4. coenzyme biosynthetic process Source: Reactome
  5. mitochondrion morphogenesis Source: Ensembl
  6. pantothenate metabolic process Source: Reactome
  7. regulation of mitochondrial membrane potential Source: Ensembl
  8. small molecule metabolic process Source: Reactome
  9. spermatid development Source: Ensembl
  10. vitamin metabolic process Source: Reactome
  11. water-soluble vitamin metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Biological processi

Coenzyme A biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.1.33. 2681.
ReactomeiREACT_11218. Coenzyme A biosynthesis.
SABIO-RKQ9BZ23.
UniPathwayiUPA00241; UER00352.

Names & Taxonomyi

Protein namesi
Recommended name:
Pantothenate kinase 2, mitochondrial (EC:2.7.1.33)
Short name:
hPanK2
Alternative name(s):
Pantothenic acid kinase 2
Gene namesi
Name:PANK2
Synonyms:C20orf48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:15894. PANK2.

Subcellular locationi

Isoform 1 : Mitochondrion 1 Publication
Isoform 2 : Cytoplasm Reviewed prediction 1 Publication
Isoform 3 : Cytoplasm Reviewed prediction 1 Publication
Isoform 4 : Cytoplasm Reviewed prediction 1 Publication

GO - Cellular componenti

  1. cytosol Source: Ensembl
  2. mitochondrial intermembrane space Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]: 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 first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti134 – 1341E → G in NBIA1. 1 Publication
VAR_060934
Natural varianti219 – 2191G → V in NBIA1; atypical. 1 Publication
VAR_015154
Natural varianti234 – 2341T → A in NBIA1; atypical. 1 Publication
VAR_015155
Natural varianti249 – 2491R → P in NBIA1. 1 Publication
VAR_060935
Natural varianti264 – 2641R → W in NBIA1. 1 Publication
VAR_015156
Natural varianti278 – 2781R → C in NBIA1; atypical. 1 Publication
VAR_015157
Natural varianti278 – 2781R → L in NBIA1. 1 Publication
VAR_060936
Natural varianti282 – 2821L → V in NBIA1. 1 Publication
VAR_015158
Natural varianti286 – 2861R → C in NBIA1. 1 Publication
VAR_015159
Natural varianti322 – 3221E → D in NBIA1; atypical. 1 Publication
VAR_060937
Natural varianti322 – 3221E → G in NBIA1. 1 Publication
VAR_060938
Natural varianti327 – 3271T → I in NBIA1. 1 Publication
VAR_015160
Natural varianti351 – 3511S → P in NBIA1; atypical. 1 Publication
VAR_015161
Natural varianti355 – 3551N → S in NBIA1; atypical. 1 Publication
VAR_015162
Natural varianti357 – 3571R → Q in NBIA1. 1 Publication
VAR_060939
Natural varianti398 – 3981A → T in NBIA1. 1 Publication
VAR_060940
Natural varianti404 – 4041N → I in NBIA1; atypical. 1 Publication
VAR_015163
Natural varianti413 – 4131L → P in NBIA1. 1 Publication
VAR_015164
Natural varianti425 – 4251Missing in NBIA1. 1 Publication
VAR_060941
Natural varianti428 – 4281C → Y in NBIA1. 1 Publication
VAR_060942
Natural varianti447 – 4471D → N in NBIA1. 1 Publication
VAR_060943
Natural varianti471 – 4711S → N in NBIA1. 1 Publication
VAR_015165
Natural varianti497 – 4971I → T in NBIA1. 1 Publication
VAR_015166
Natural varianti500 – 5001N → I in NBIA1. 1 Publication
VAR_015167
Natural varianti501 – 5011I → T in NBIA1; atypical. 1 Publication
VAR_060944
Natural varianti509 – 5091A → V in NBIA1. 1 Publication
VAR_060945
Natural varianti511 – 5111N → D in NBIA1. 1 Publication
VAR_060946
Natural varianti521 – 5211G → R in NBIA1; classic and atypical forms. 2 Publications
VAR_015168
Natural varianti528 – 5281T → M in NBIA1; classic and atypical forms. 1 Publication
VAR_015169
Natural varianti532 – 5321R → W in NBIA1. 1 Publication
VAR_060947
Natural varianti563 – 5631L → P in NBIA1. 1 Publication
VAR_060948
Natural varianti570 – 5701P → L in NBIA1; atypical. 2 Publications
Corresponds to variant rs41279408 [ dbSNP | Ensembl ].
VAR_060949
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) [MIM:607236]: Rare syndrome with many clinical similarities to PKAN.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

MIMi234200. phenotype.
607236. phenotype.
Orphaneti216873. Atypical pantothenate kinase-associated neurodegeneration.
216866. Classic pantothenate kinase-associated neurodegeneration.
PharmGKBiPA38048.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4646Mitochondrion Reviewed predictionAdd
BLAST
Chaini47 – 570524Pantothenate kinase 2, mitochondrialPRO_0000023201Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei168 – 1681Phosphoserine3 Publications
Modified residuei169 – 1691Phosphoserine2 Publications
Modified residuei189 – 1891Phosphoserine4 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9BZ23.
PaxDbiQ9BZ23.
PRIDEiQ9BZ23.

PTM databases

PhosphoSiteiQ9BZ23.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

ArrayExpressiQ9BZ23.
BgeeiQ9BZ23.
CleanExiHS_PANK2.
GenevestigatoriQ9BZ23.

Organism-specific databases

HPAiHPA008440.
HPA021795.

Interactioni

Subunit structurei

Homodimer By similarity.

Binary interactionsi

WithEntry#Exp.IntActNotes
DHX36Q9H2U11EBI-1058434,EBI-1047643
LXNQ9BS401EBI-1058434,EBI-1044504
QRICH2Q9H0J41EBI-1058434,EBI-1053637
RASGRF2O148271EBI-1058434,EBI-1055500
VDAC1P217961EBI-1058434,EBI-354158
YWHAQP273481EBI-1058434,EBI-359854

Protein-protein interaction databases

BioGridi123079. 7 interactions.
IntActiQ9BZ23. 1 interaction.
MINTiMINT-3319143.

Structurei

3D structure databases

ProteinModelPortaliQ9BZ23.
SMRiQ9BZ23. Positions 208-569.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi236 – 2438Poly-Glu

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG5146.
HOVERGENiHBG053495.
InParanoidiQ9BZ23.
KOiK09680.
OMAiNENINRV.
OrthoDBiEOG7R2BJR.
PhylomeDBiQ9BZ23.
TreeFamiTF314866.

Family and domain databases

InterProiIPR004567. Type_II_PanK.
[Graphical view]
PfamiPF03630. Fumble. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00555. panK_eukar. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing and alternative initiation. Align

Isoform 1 (identifier: Q9BZ23-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MRRLGPFHPR VHWAAPPSLS SGLHRLLFLR GTRIPSSTTL SPPRHDSLSL    50
DGGTVNPPRV REPTGREAFG PSPASSDWLP ARWRNGRGGR PRARLCSGWT 100
AAEEARRNPT LGGLLGRQRL LLRMGGGRLG APMERHGRAS ATSVSSAGEQ 150
AAGDPEGRRQ EPLRRRASSA SVPAVGASAE GTRRDRLGSY SGPTSVSRQR 200
VESLRKKRPL FPWFGLDIGG TLVKLVYFEP KDITAEEEEE EVESLKSIRK 250
YLTSNVAYGS TGIRDVHLEL KDLTLCGRKG NLHFIRFPTH DMPAFIQMGR 300
DKNFSSLHTV FCATGGGAYK FEQDFLTIGD LQLCKLDELD CLIKGILYID 350
SVGFNGRSQC YYFENPADSE KCQKLPFDLK NPYPLLLVNI GSGVSILAVY 400
SKDNYKRVTG TSLGGGTFFG LCCLLTGCTT FEEALEMASR GDSTKVDKLV 450
RDIYGGDYER FGLPGWAVAS SFGNMMSKEK REAVSKEDLA RATLITITNN 500
IGSIARMCAL NENINQVVFV GNFLRINTIA MRLLAYALDY WSKGQLKALF 550
SEHEGYFGAV GALLELLKIP 570
Length:570
Mass (Da):62,681
Last modified:November 28, 2006 - v3
Checksum:i9061A60D6CA93BBB
GO
Isoform 3 (identifier: Q9BZ23-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:279
Mass (Da):30,753
Checksum:iF5702EFD761FEB2B
GO
Isoform 2 (identifier: Q9BZ23-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:447
Mass (Da):49,117
Checksum:i07B4333A838BD6A8
GO
Isoform 4 (identifier: Q9BZ23-4) [UniParc]FASTAAdd to Basket

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.

Show »
Length:460
Mass (Da):50,582
Checksum:i5453A42C35481D52
GO

Sequence cautioni

The sequence BAC05173.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941R → P.1 Publication
Corresponds to variant rs71647827 [ dbSNP | Ensembl ].
VAR_054484
Natural varianti111 – 1111L → Q.2 Publications
Corresponds to variant rs71647828 [ dbSNP | Ensembl ].
VAR_015152
Natural varianti126 – 1261G → A.3 Publications
Corresponds to variant rs3737084 [ dbSNP | Ensembl ].
VAR_015153
Natural varianti134 – 1341E → G in NBIA1. 1 Publication
VAR_060934
Natural varianti219 – 2191G → V in NBIA1; atypical. 1 Publication
VAR_015154
Natural varianti234 – 2341T → A in NBIA1; atypical. 1 Publication
VAR_015155
Natural varianti249 – 2491R → P in NBIA1. 1 Publication
VAR_060935
Natural varianti264 – 2641R → W in NBIA1. 1 Publication
VAR_015156
Natural varianti278 – 2781R → C in NBIA1; atypical. 1 Publication
VAR_015157
Natural varianti278 – 2781R → L in NBIA1. 1 Publication
VAR_060936
Natural varianti282 – 2821L → V in NBIA1. 1 Publication
VAR_015158
Natural varianti286 – 2861R → C in NBIA1. 1 Publication
VAR_015159
Natural varianti322 – 3221E → D in NBIA1; atypical. 1 Publication
VAR_060937
Natural varianti322 – 3221E → G in NBIA1. 1 Publication
VAR_060938
Natural varianti327 – 3271T → I in NBIA1. 1 Publication
VAR_015160
Natural varianti351 – 3511S → P in NBIA1; atypical. 1 Publication
VAR_015161
Natural varianti355 – 3551N → S in NBIA1; atypical. 1 Publication
VAR_015162
Natural varianti357 – 3571R → Q in NBIA1. 1 Publication
VAR_060939
Natural varianti398 – 3981A → T in NBIA1. 1 Publication
VAR_060940
Natural varianti404 – 4041N → I in NBIA1; atypical. 1 Publication
VAR_015163
Natural varianti413 – 4131L → P in NBIA1. 1 Publication
VAR_015164
Natural varianti425 – 4251Missing in NBIA1. 1 Publication
VAR_060941
Natural varianti428 – 4281C → Y in NBIA1. 1 Publication
VAR_060942
Natural varianti447 – 4471D → N in NBIA1. 1 Publication
VAR_060943
Natural varianti471 – 4711S → N in NBIA1. 1 Publication
VAR_015165
Natural varianti497 – 4971I → T in NBIA1. 1 Publication
VAR_015166
Natural varianti500 – 5001N → I in NBIA1. 1 Publication
VAR_015167
Natural varianti501 – 5011I → T in NBIA1; atypical. 1 Publication
VAR_060944
Natural varianti509 – 5091A → V in NBIA1. 1 Publication
VAR_060945
Natural varianti511 – 5111N → D in NBIA1. 1 Publication
VAR_060946
Natural varianti521 – 5211G → R in NBIA1; classic and atypical forms. 2 Publications
VAR_015168
Natural varianti528 – 5281T → M in NBIA1; classic and atypical forms. 1 Publication
VAR_015169
Natural varianti532 – 5321R → W in NBIA1. 1 Publication
VAR_060947
Natural varianti563 – 5631L → P in NBIA1. 1 Publication
VAR_060948
Natural varianti570 – 5701P → L in NBIA1; atypical. 2 Publications
Corresponds to variant rs41279408 [ dbSNP | Ensembl ].
VAR_060949

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 291291Missing in isoform 3. VSP_007424Add
BLAST
Alternative sequencei1 – 123123Missing in isoform 2. VSP_018825Add
BLAST
Alternative sequencei1 – 110110Missing in isoform 4. VSP_038494Add
BLAST
Alternative sequencei111 – 1111L → M in isoform 4. VSP_038495

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti460 – 4601R → G in BAB13897. 1 Publication
Sequence conflicti475 – 4751M → K in BAB13897. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS13071.2. [Q9BZ23-1]
CCDS13072.1. [Q9BZ23-2]
RefSeqiNP_079236.3. NM_024960.4. [Q9BZ23-2]
NP_705902.2. NM_153638.2. [Q9BZ23-1]
NP_705904.1. NM_153640.2. [Q9BZ23-2]
XP_006723694.1. XM_006723631.1. [Q9BZ23-2]
UniGeneiHs.516859.

Genome annotation databases

EnsembliENST00000316562; ENSP00000313377; ENSG00000125779. [Q9BZ23-1]
ENST00000497424; ENSP00000417609; ENSG00000125779. [Q9BZ23-2]
ENST00000610179; ENSP00000477429; ENSG00000125779. [Q9BZ23-3]
GeneIDi80025.
KEGGihsa:80025.
UCSCiuc002wkb.3. human. [Q9BZ23-2]
uc002wkc.3. human. [Q9BZ23-1]

Polymorphism databases

DMDMi118572682.

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS13071.2. [Q9BZ23-1 ]
CCDS13072.1. [Q9BZ23-2 ]
RefSeqi NP_079236.3. NM_024960.4. [Q9BZ23-2 ]
NP_705902.2. NM_153638.2. [Q9BZ23-1 ]
NP_705904.1. NM_153640.2. [Q9BZ23-2 ]
XP_006723694.1. XM_006723631.1. [Q9BZ23-2 ]
UniGenei Hs.516859.

3D structure databases

ProteinModelPortali Q9BZ23.
SMRi Q9BZ23. Positions 208-569.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123079. 7 interactions.
IntActi Q9BZ23. 1 interaction.
MINTi MINT-3319143.

PTM databases

PhosphoSitei Q9BZ23.

Polymorphism databases

DMDMi 118572682.

Proteomic databases

MaxQBi Q9BZ23.
PaxDbi Q9BZ23.
PRIDEi Q9BZ23.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000316562 ; ENSP00000313377 ; ENSG00000125779 . [Q9BZ23-1 ]
ENST00000497424 ; ENSP00000417609 ; ENSG00000125779 . [Q9BZ23-2 ]
ENST00000610179 ; ENSP00000477429 ; ENSG00000125779 . [Q9BZ23-3 ]
GeneIDi 80025.
KEGGi hsa:80025.
UCSCi uc002wkb.3. human. [Q9BZ23-2 ]
uc002wkc.3. human. [Q9BZ23-1 ]

Organism-specific databases

CTDi 80025.
GeneCardsi GC20P003869.
GeneReviewsi PANK2.
HGNCi HGNC:15894. PANK2.
HPAi HPA008440.
HPA021795.
MIMi 234200. phenotype.
606157. gene.
607236. phenotype.
neXtProti NX_Q9BZ23.
Orphaneti 216873. Atypical pantothenate kinase-associated neurodegeneration.
216866. Classic pantothenate kinase-associated neurodegeneration.
PharmGKBi PA38048.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5146.
HOVERGENi HBG053495.
InParanoidi Q9BZ23.
KOi K09680.
OMAi NENINRV.
OrthoDBi EOG7R2BJR.
PhylomeDBi Q9BZ23.
TreeFami TF314866.

Enzyme and pathway databases

UniPathwayi UPA00241 ; UER00352 .
BRENDAi 2.7.1.33. 2681.
Reactomei REACT_11218. Coenzyme A biosynthesis.
SABIO-RK Q9BZ23.

Miscellaneous databases

ChiTaRSi PANK2. human.
GeneWikii PANK2_(gene).
GenomeRNAii 80025.
NextBioi 70178.
PROi Q9BZ23.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BZ23.
Bgeei Q9BZ23.
CleanExi HS_PANK2.
Genevestigatori Q9BZ23.

Family and domain databases

InterProi IPR004567. Type_II_PanK.
[Graphical view ]
Pfami PF03630. Fumble. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR00555. panK_eukar. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. 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] [Europe PMC] [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. "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] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HARP.
  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] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168; SER-169 AND SER-189, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "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] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168; SER-169 AND SER-189, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-189, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168 AND SER-189, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: VARIANTS NBIA1 ARG-521 AND LEU-570.

Entry informationi

Entry nameiPANK2_HUMAN
AccessioniPrimary (citable) accession number: Q9BZ23
Secondary accession number(s): B1AK33
, B2Z3X0, D3DVZ0, Q5T7I2, Q5T7I4, Q7RTX5, Q8N7Q4, Q8TCR5, Q9BYW5, Q9HAF2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: November 28, 2006
Last modified: September 3, 2014
This is version 129 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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

The HSS syndrome has been proposed to be renamed because of the unethical activities of Julius Hallervorden and Hugo Spatz during world war II.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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