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Protein

Pantothenate kinase 2, mitochondrial

Gene

PANK2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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: coenzyme A biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes CoA from (R)-pantothenate.
Proteins known to be involved in the 5 steps of the subpathway in this organism are:
  1. Pantothenate kinase 4 (PANK4), Pantothenate kinase 3 (PANK3), Pantothenate kinase 1 (PANK1), Pantothenate kinase 2, mitochondrial (PANK2)
  2. Phosphopantothenate--cysteine ligase (PPCS)
  3. Phosphopantothenoylcysteine decarboxylase (PPCDC)
  4. Bifunctional coenzyme A synthase (COASY)
  5. Bifunctional coenzyme A synthase (COASY)
This subpathway is part of the pathway coenzyme A biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes CoA from (R)-pantothenate, the pathway coenzyme A biosynthesis and in Cofactor biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei392Acetyl-CoABy similarity1
Binding sitei395Acetyl-CoABy similarity1
Binding sitei407Acetyl-CoABy similarity1

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • pantothenate kinase activity Source: ParkinsonsUK-UCL

GO - Biological processi

  • aerobic respiration Source: Ensembl
  • coenzyme A biosynthetic process Source: ParkinsonsUK-UCL
  • coenzyme biosynthetic process Source: Reactome
  • mitochondrion morphogenesis Source: Ensembl
  • pantothenate metabolic process Source: ParkinsonsUK-UCL
  • phosphorylation Source: ParkinsonsUK-UCL
  • regulation of bile acid metabolic process Source: ParkinsonsUK-UCL
  • regulation of fatty acid metabolic process Source: ParkinsonsUK-UCL
  • regulation of mitochondrial membrane potential Source: Ensembl
  • regulation of triglyceride metabolic process Source: ParkinsonsUK-UCL
  • spermatid development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Biological processi

Coenzyme A biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS13177-MONOMER.
ZFISH:HS13177-MONOMER.
BRENDAi2.7.1.33. 2681.
ReactomeiR-HSA-196783. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15894. PANK2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: Ensembl
  • mitochondrial intermembrane space Source: Reactome
  • mitochondrion Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Neurodegeneration with brain iron accumulation 1 (NBIA1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:234200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060934134E → G in NBIA1. 1 PublicationCorresponds to variant rs765679726dbSNPEnsembl.1
Natural variantiVAR_015154219G → V in NBIA1; atypical. 1 Publication1
Natural variantiVAR_076594232D → G in NBIA1; atypical; unknown pathological significance. 1 Publication1
Natural variantiVAR_015155234T → A in NBIA1; atypical. 1 PublicationCorresponds to variant rs137852965dbSNPEnsembl.1
Natural variantiVAR_060935249R → P in NBIA1. 1 Publication1
Natural variantiVAR_015156264R → W in NBIA1. 1 PublicationCorresponds to variant rs137852961dbSNPEnsembl.1
Natural variantiVAR_015157278R → C in NBIA1; atypical. 1 PublicationCorresponds to variant rs137852966dbSNPEnsembl.1
Natural variantiVAR_060936278R → L in NBIA1. 1 Publication1
Natural variantiVAR_015158282L → V in NBIA1. 1 Publication1
Natural variantiVAR_015159286R → C in NBIA1. 1 PublicationCorresponds to variant rs137852962dbSNPEnsembl.1
Natural variantiVAR_060937322E → D in NBIA1; atypical. 1 Publication1
Natural variantiVAR_060938322E → G in NBIA1. 1 PublicationCorresponds to variant rs768230831dbSNPEnsembl.1
Natural variantiVAR_015160327T → I in NBIA1. 1 Publication1
Natural variantiVAR_015161351S → P in NBIA1; atypical. 1 PublicationCorresponds to variant rs137852964dbSNPEnsembl.1
Natural variantiVAR_015162355N → S in NBIA1; atypical. 1 PublicationCorresponds to variant rs746484727dbSNPEnsembl.1
Natural variantiVAR_060939357R → Q in NBIA1. 1 PublicationCorresponds to variant rs754521581dbSNPEnsembl.1
Natural variantiVAR_076595377F → S in NBIA1; atypical; unknown pathological significance. 1 Publication1
Natural variantiVAR_060940398A → T in NBIA1. 1 PublicationCorresponds to variant rs759223327dbSNPEnsembl.1
Natural variantiVAR_015163404N → I in NBIA1; atypical. 1 PublicationCorresponds to variant rs752078407dbSNPEnsembl.1
Natural variantiVAR_015164413L → P in NBIA1. 1 PublicationCorresponds to variant rs750176786dbSNPEnsembl.1
Natural variantiVAR_060941425Missing in NBIA1. 1 Publication1
Natural variantiVAR_060942428C → Y in NBIA1. 1 Publication1
Natural variantiVAR_060943447D → N in NBIA1. 1 Publication1
Natural variantiVAR_015165471S → N in NBIA1. 1 PublicationCorresponds to variant rs137852963dbSNPEnsembl.1
Natural variantiVAR_076596489L → P in NBIA1; unknown pathological significance. 1 Publication1
Natural variantiVAR_015166497I → T in NBIA1. 1 Publication1
Natural variantiVAR_015167500N → I in NBIA1. 1 PublicationCorresponds to variant rs759332123dbSNPEnsembl.1
Natural variantiVAR_060944501I → T in NBIA1; atypical. 1 PublicationCorresponds to variant rs775459398dbSNPEnsembl.1
Natural variantiVAR_060945509A → V in NBIA1. 1 Publication1
Natural variantiVAR_060946511N → D in NBIA1. 1 PublicationCorresponds to variant rs767653843dbSNPEnsembl.1
Natural variantiVAR_015168521G → R in NBIA1; classic and atypical forms. 3 PublicationsCorresponds to variant rs137852959dbSNPEnsembl.1
Natural variantiVAR_015169528T → M in NBIA1; classic and atypical forms; unknown pathological significance. 2 PublicationsCorresponds to variant rs137852967dbSNPEnsembl.1
Natural variantiVAR_060947532R → W in NBIA1. 1 Publication1
Natural variantiVAR_076597555G → S in NBIA1; atypical; unknown pathological significance. 1 Publication1
Natural variantiVAR_060948563L → P in NBIA1. 1 Publication1
Natural variantiVAR_060949570P → L in NBIA1; atypical. 2 PublicationsCorresponds to variant rs41279408dbSNPEnsembl.1
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare syndrome with many clinical similarities to PKAN.
See also OMIM:607236

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi80025.
MalaCardsiPANK2.
MIMi234200. phenotype.
607236. phenotype.
OpenTargetsiENSG00000125779.
Orphaneti216873. Atypical pantothenate kinase-associated neurodegeneration.
216866. Classic pantothenate kinase-associated neurodegeneration.
PharmGKBiPA38048.

Chemistry databases

ChEMBLiCHEMBL3407327.

Polymorphism and mutation databases

BioMutaiPANK2.
DMDMi118572682.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 46MitochondrionSequence analysisAdd BLAST46
ChainiPRO_000002320147 – 570Pantothenate kinase 2, mitochondrialAdd BLAST524

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei168PhosphoserineCombined sources1
Modified residuei169PhosphoserineCombined sources1
Modified residuei189PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BZ23.
MaxQBiQ9BZ23.
PaxDbiQ9BZ23.
PeptideAtlasiQ9BZ23.
PRIDEiQ9BZ23.
TopDownProteomicsiQ9BZ23-1. [Q9BZ23-1]

PTM databases

iPTMnetiQ9BZ23.
PhosphoSitePlusiQ9BZ23.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000125779.
CleanExiHS_PANK2.
ExpressionAtlasiQ9BZ23. baseline and differential.
GenevisibleiQ9BZ23. HS.

Organism-specific databases

HPAiHPA008440.
HPA021795.

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi123079. 12 interactors.
IntActiQ9BZ23. 3 interactors.
MINTiMINT-3319143.
STRINGi9606.ENSP00000313377.

Chemistry databases

BindingDBiQ9BZ23.

Structurei

Secondary structure

1570
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi213 – 218Combined sources6
Beta strandi220 – 231Combined sources12
Helixi235 – 240Combined sources6
Helixi243 – 254Combined sources12
Beta strandi256 – 258Combined sources3
Turni259 – 261Combined sources3
Beta strandi262 – 264Combined sources3
Helixi266 – 268Combined sources3
Beta strandi270 – 275Combined sources6
Beta strandi278 – 288Combined sources11
Helixi289 – 291Combined sources3
Helixi292 – 301Combined sources10
Helixi304 – 306Combined sources3
Beta strandi309 – 315Combined sources7
Helixi317 – 320Combined sources4
Helixi322 – 329Combined sources8
Beta strandi332 – 336Combined sources5
Helixi338 – 352Combined sources15
Beta strandi354 – 357Combined sources4
Beta strandi359 – 365Combined sources7
Turni369 – 371Combined sources3
Beta strandi373 – 377Combined sources5
Beta strandi384 – 403Combined sources20
Beta strandi405 – 412Combined sources8
Helixi415 – 426Combined sources12
Helixi431 – 439Combined sources9
Helixi443 – 445Combined sources3
Beta strandi447 – 449Combined sources3
Helixi450 – 454Combined sources5
Helixi459 – 461Combined sources3
Beta strandi467 – 470Combined sources4
Turni471 – 476Combined sources6
Helixi478 – 483Combined sources6
Helixi486 – 512Combined sources27
Beta strandi516 – 521Combined sources6
Helixi522 – 524Combined sources3
Helixi528 – 541Combined sources14
Turni542 – 544Combined sources3
Beta strandi547 – 553Combined sources7
Helixi557 – 566Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5E26X-ray2.14A/B/C/D205-568[»]
ProteinModelPortaliQ9BZ23.
SMRiQ9BZ23.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi236 – 243Poly-Glu8

Sequence similaritiesi

Belongs to the type II pantothenate kinase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2201. Eukaryota.
COG5146. LUCA.
GeneTreeiENSGT00390000020719.
HOVERGENiHBG053495.
InParanoidiQ9BZ23.
KOiK09680.
OMAiKRQFNFS.
OrthoDBiEOG091G0851.
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. AlignAdd to basket

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

        10         20         30         40         50
MRRLGPFHPR VHWAAPPSLS SGLHRLLFLR GTRIPSSTTL SPPRHDSLSL
60 70 80 90 100
DGGTVNPPRV REPTGREAFG PSPASSDWLP ARWRNGRGGR PRARLCSGWT
110 120 130 140 150
AAEEARRNPT LGGLLGRQRL LLRMGGGRLG APMERHGRAS ATSVSSAGEQ
160 170 180 190 200
AAGDPEGRRQ EPLRRRASSA SVPAVGASAE GTRRDRLGSY SGPTSVSRQR
210 220 230 240 250
VESLRKKRPL FPWFGLDIGG TLVKLVYFEP KDITAEEEEE EVESLKSIRK
260 270 280 290 300
YLTSNVAYGS TGIRDVHLEL KDLTLCGRKG NLHFIRFPTH DMPAFIQMGR
310 320 330 340 350
DKNFSSLHTV FCATGGGAYK FEQDFLTIGD LQLCKLDELD CLIKGILYID
360 370 380 390 400
SVGFNGRSQC YYFENPADSE KCQKLPFDLK NPYPLLLVNI GSGVSILAVY
410 420 430 440 450
SKDNYKRVTG TSLGGGTFFG LCCLLTGCTT FEEALEMASR GDSTKVDKLV
460 470 480 490 500
RDIYGGDYER FGLPGWAVAS SFGNMMSKEK REAVSKEDLA RATLITITNN
510 520 530 540 550
IGSIARMCAL NENINQVVFV GNFLRINTIA MRLLAYALDY WSKGQLKALF
560 570
SEHEGYFGAV GALLELLKIP
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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti460R → G in BAB13897 (PubMed:14702039).Curated1
Sequence conflicti475M → K in BAB13897 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05448494R → P.1 PublicationCorresponds to variant rs71647827dbSNPEnsembl.1
Natural variantiVAR_015152111L → Q.2 PublicationsCorresponds to variant rs71647828dbSNPEnsembl.1
Natural variantiVAR_015153126G → A.3 PublicationsCorresponds to variant rs3737084dbSNPEnsembl.1
Natural variantiVAR_060934134E → G in NBIA1. 1 PublicationCorresponds to variant rs765679726dbSNPEnsembl.1
Natural variantiVAR_015154219G → V in NBIA1; atypical. 1 Publication1
Natural variantiVAR_076594232D → G in NBIA1; atypical; unknown pathological significance. 1 Publication1
Natural variantiVAR_015155234T → A in NBIA1; atypical. 1 PublicationCorresponds to variant rs137852965dbSNPEnsembl.1
Natural variantiVAR_060935249R → P in NBIA1. 1 Publication1
Natural variantiVAR_015156264R → W in NBIA1. 1 PublicationCorresponds to variant rs137852961dbSNPEnsembl.1
Natural variantiVAR_015157278R → C in NBIA1; atypical. 1 PublicationCorresponds to variant rs137852966dbSNPEnsembl.1
Natural variantiVAR_060936278R → L in NBIA1. 1 Publication1
Natural variantiVAR_015158282L → V in NBIA1. 1 Publication1
Natural variantiVAR_015159286R → C in NBIA1. 1 PublicationCorresponds to variant rs137852962dbSNPEnsembl.1
Natural variantiVAR_060937322E → D in NBIA1; atypical. 1 Publication1
Natural variantiVAR_060938322E → G in NBIA1. 1 PublicationCorresponds to variant rs768230831dbSNPEnsembl.1
Natural variantiVAR_015160327T → I in NBIA1. 1 Publication1
Natural variantiVAR_015161351S → P in NBIA1; atypical. 1 PublicationCorresponds to variant rs137852964dbSNPEnsembl.1
Natural variantiVAR_015162355N → S in NBIA1; atypical. 1 PublicationCorresponds to variant rs746484727dbSNPEnsembl.1
Natural variantiVAR_060939357R → Q in NBIA1. 1 PublicationCorresponds to variant rs754521581dbSNPEnsembl.1
Natural variantiVAR_076595377F → S in NBIA1; atypical; unknown pathological significance. 1 Publication1
Natural variantiVAR_060940398A → T in NBIA1. 1 PublicationCorresponds to variant rs759223327dbSNPEnsembl.1
Natural variantiVAR_015163404N → I in NBIA1; atypical. 1 PublicationCorresponds to variant rs752078407dbSNPEnsembl.1
Natural variantiVAR_015164413L → P in NBIA1. 1 PublicationCorresponds to variant rs750176786dbSNPEnsembl.1
Natural variantiVAR_060941425Missing in NBIA1. 1 Publication1
Natural variantiVAR_060942428C → Y in NBIA1. 1 Publication1
Natural variantiVAR_060943447D → N in NBIA1. 1 Publication1
Natural variantiVAR_015165471S → N in NBIA1. 1 PublicationCorresponds to variant rs137852963dbSNPEnsembl.1
Natural variantiVAR_076596489L → P in NBIA1; unknown pathological significance. 1 Publication1
Natural variantiVAR_015166497I → T in NBIA1. 1 Publication1
Natural variantiVAR_015167500N → I in NBIA1. 1 PublicationCorresponds to variant rs759332123dbSNPEnsembl.1
Natural variantiVAR_060944501I → T in NBIA1; atypical. 1 PublicationCorresponds to variant rs775459398dbSNPEnsembl.1
Natural variantiVAR_060945509A → V in NBIA1. 1 Publication1
Natural variantiVAR_060946511N → D in NBIA1. 1 PublicationCorresponds to variant rs767653843dbSNPEnsembl.1
Natural variantiVAR_015168521G → R in NBIA1; classic and atypical forms. 3 PublicationsCorresponds to variant rs137852959dbSNPEnsembl.1
Natural variantiVAR_015169528T → M in NBIA1; classic and atypical forms; unknown pathological significance. 2 PublicationsCorresponds to variant rs137852967dbSNPEnsembl.1
Natural variantiVAR_060947532R → W in NBIA1. 1 Publication1
Natural variantiVAR_076597555G → S in NBIA1; atypical; unknown pathological significance. 1 Publication1
Natural variantiVAR_060948563L → P in NBIA1. 1 Publication1
Natural variantiVAR_060949570P → L in NBIA1; atypical. 2 PublicationsCorresponds to variant rs41279408dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0074241 – 291Missing in isoform 3. 1 PublicationAdd BLAST291
Alternative sequenceiVSP_0188251 – 123Missing in isoform 2. CuratedAdd BLAST123
Alternative sequenceiVSP_0384941 – 110Missing in isoform 4. CuratedAdd BLAST110
Alternative sequenceiVSP_038495111L → M in isoform 4. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001311120.1. NM_001324191.1. [Q9BZ23-2]
NP_079236.3. NM_024960.5. [Q9BZ23-2]
NP_705902.2. NM_153638.3. [Q9BZ23-1]
NP_705904.1. NM_153640.3. [Q9BZ23-2]
XP_005260893.3. XM_005260836.4. [Q9BZ23-2]
UniGeneiHs.114180.
Hs.516859.

Genome annotation databases

EnsembliENST00000316562; ENSP00000313377; ENSG00000125779. [Q9BZ23-1]
ENST00000497424; ENSP00000417609; ENSG00000125779. [Q9BZ23-2]
ENST00000610179; ENSP00000477429; ENSG00000125779. [Q9BZ23-3]
ENST00000621507; ENSP00000481523; ENSG00000125779. [Q9BZ23-2]
GeneIDi80025.
KEGGihsa:80025.
UCSCiuc002wkb.4. human. [Q9BZ23-1]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001311120.1. NM_001324191.1. [Q9BZ23-2]
NP_079236.3. NM_024960.5. [Q9BZ23-2]
NP_705902.2. NM_153638.3. [Q9BZ23-1]
NP_705904.1. NM_153640.3. [Q9BZ23-2]
XP_005260893.3. XM_005260836.4. [Q9BZ23-2]
UniGeneiHs.114180.
Hs.516859.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5E26X-ray2.14A/B/C/D205-568[»]
ProteinModelPortaliQ9BZ23.
SMRiQ9BZ23.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123079. 12 interactors.
IntActiQ9BZ23. 3 interactors.
MINTiMINT-3319143.
STRINGi9606.ENSP00000313377.

Chemistry databases

BindingDBiQ9BZ23.
ChEMBLiCHEMBL3407327.

PTM databases

iPTMnetiQ9BZ23.
PhosphoSitePlusiQ9BZ23.

Polymorphism and mutation databases

BioMutaiPANK2.
DMDMi118572682.

Proteomic databases

EPDiQ9BZ23.
MaxQBiQ9BZ23.
PaxDbiQ9BZ23.
PeptideAtlasiQ9BZ23.
PRIDEiQ9BZ23.
TopDownProteomicsiQ9BZ23-1. [Q9BZ23-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316562; ENSP00000313377; ENSG00000125779. [Q9BZ23-1]
ENST00000497424; ENSP00000417609; ENSG00000125779. [Q9BZ23-2]
ENST00000610179; ENSP00000477429; ENSG00000125779. [Q9BZ23-3]
ENST00000621507; ENSP00000481523; ENSG00000125779. [Q9BZ23-2]
GeneIDi80025.
KEGGihsa:80025.
UCSCiuc002wkb.4. human. [Q9BZ23-1]

Organism-specific databases

CTDi80025.
DisGeNETi80025.
GeneCardsiPANK2.
GeneReviewsiPANK2.
HGNCiHGNC:15894. PANK2.
HPAiHPA008440.
HPA021795.
MalaCardsiPANK2.
MIMi234200. phenotype.
606157. gene.
607236. phenotype.
neXtProtiNX_Q9BZ23.
OpenTargetsiENSG00000125779.
Orphaneti216873. Atypical pantothenate kinase-associated neurodegeneration.
216866. Classic pantothenate kinase-associated neurodegeneration.
PharmGKBiPA38048.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2201. Eukaryota.
COG5146. LUCA.
GeneTreeiENSGT00390000020719.
HOVERGENiHBG053495.
InParanoidiQ9BZ23.
KOiK09680.
OMAiKRQFNFS.
OrthoDBiEOG091G0851.
PhylomeDBiQ9BZ23.
TreeFamiTF314866.

Enzyme and pathway databases

UniPathwayiUPA00241; UER00352.
BioCyciMetaCyc:HS13177-MONOMER.
ZFISH:HS13177-MONOMER.
BRENDAi2.7.1.33. 2681.
ReactomeiR-HSA-196783. Coenzyme A biosynthesis.
SABIO-RKQ9BZ23.

Miscellaneous databases

ChiTaRSiPANK2. human.
GeneWikiiPANK2_(gene).
GenomeRNAii80025.
PROiQ9BZ23.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125779.
CleanExiHS_PANK2.
ExpressionAtlasiQ9BZ23. baseline and differential.
GenevisibleiQ9BZ23. HS.

Family and domain databases

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

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: November 2, 2016
This is version 150 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.