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Protein

Pantothenate kinase 2, mitochondrial

Gene

PANK2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

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.

Catalytic activityi

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

Activity 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 1 (PANK1), Pantothenate kinase 3 (PANK3), Pantothenate kinase 4 (PANK4), Pantothenate kinase 2, mitochondrial (PANK2), Pantothenate kinase 4 (PANK4), Pantothenate kinase 4, Pantothenate kinase 4
  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

GO - Biological processi

Keywordsi

Molecular functionKinase, Transferase
Biological processCoenzyme A biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS13177-MONOMER
BRENDAi2.7.1.33 2681
ReactomeiR-HSA-196783 Coenzyme A biosynthesis
SABIO-RKiQ9BZ23
UniPathwayi
UPA00241;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

EuPathDBiHostDB:ENSG00000125779.21
HGNCiHGNC:15894 PANK2
MIMi606157 gene
neXtProtiNX_Q9BZ23

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs765679726Ensembl.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 dbSNP:rs137852965EnsemblClinVar.1
Natural variantiVAR_060935249R → P in NBIA1. 1 Publication1
Natural variantiVAR_015156264R → W in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs137852961EnsemblClinVar.1
Natural variantiVAR_015157278R → C in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs137852966EnsemblClinVar.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 dbSNP:rs137852962EnsemblClinVar.1
Natural variantiVAR_060937322E → D in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs974575417Ensembl.1
Natural variantiVAR_060938322E → G in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs768230831Ensembl.1
Natural variantiVAR_015160327T → I in NBIA1. 1 Publication1
Natural variantiVAR_015161351S → P in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs137852964EnsemblClinVar.1
Natural variantiVAR_015162355N → S in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs746484727Ensembl.1
Natural variantiVAR_060939357R → Q in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs754521581Ensembl.1
Natural variantiVAR_076595377F → S in NBIA1; atypical; unknown pathological significance. 1 Publication1
Natural variantiVAR_060940398A → T in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs759223327Ensembl.1
Natural variantiVAR_015163404N → I in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs752078407Ensembl.1
Natural variantiVAR_015164413L → P in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs750176786Ensembl.1
Natural variantiVAR_060941425Missing in NBIA1. 1 Publication1
Natural variantiVAR_060942428C → Y in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs1012947103Ensembl.1
Natural variantiVAR_060943447D → N in NBIA1. 1 Publication1
Natural variantiVAR_015165471S → N in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs137852963EnsemblClinVar.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 dbSNP:rs759332123Ensembl.1
Natural variantiVAR_060944501I → T in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs775459398Ensembl.1
Natural variantiVAR_060945509A → V in NBIA1. 1 Publication1
Natural variantiVAR_060946511N → D in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs767653843Ensembl.1
Natural variantiVAR_015168521G → R in NBIA1; classic and atypical forms. 3 PublicationsCorresponds to variant dbSNP:rs137852959EnsemblClinVar.1
Natural variantiVAR_015169528T → M in NBIA1; classic and atypical forms; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs137852967EnsemblClinVar.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 dbSNP:rs41279408Ensembl.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
GeneReviewsiPANK2
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
ProteomicsDBi79754
79755 [Q9BZ23-2]
79756 [Q9BZ23-3]
79757 [Q9BZ23-4]
TopDownProteomicsiQ9BZ23-1 [Q9BZ23-1]

PTM databases

iPTMnetiQ9BZ23
PhosphoSitePlusiQ9BZ23

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000125779 Expressed in 223 organ(s), highest expression level in endothelial cell
CleanExiHS_PANK2
ExpressionAtlasiQ9BZ23 baseline and differential
GenevisibleiQ9BZ23 HS

Organism-specific databases

HPAiHPA008440

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi123079, 23 interactors
IntActiQ9BZ23, 3 interactors
MINTiQ9BZ23
STRINGi9606.ENSP00000313377

Chemistry databases

BindingDBiQ9BZ23

Structurei

Secondary structure

1570
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OMAiELCVMAT
OrthoDBiEOG091G0851
PhylomeDBiQ9BZ23
TreeFamiTF314866

Family and domain databases

InterProiView protein in InterPro
IPR004567 Type_II_PanK
PfamiView protein in Pfam
PF03630 Fumble, 1 hit
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

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YF29A0A2R8YF29_HUMAN
Pantothenate kinase 2, mitochondria...
PANK2
403Annotation score:
V9GYH1V9GYH1_HUMAN
Pantothenate kinase 2, mitochondria...
PANK2
115Annotation score:
V9GYZ0V9GYZ0_HUMAN
HCG39342, isoform CRA_b
PANK2 hCG_39342
158Annotation score:
A0A2R8YFI4A0A2R8YFI4_HUMAN
Pantothenate kinase 2, mitochondria...
PANK2
141Annotation score:

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 → P1 PublicationCorresponds to variant dbSNP:rs71647827EnsemblClinVar.1
Natural variantiVAR_015152111L → Q2 PublicationsCorresponds to variant dbSNP:rs71647828EnsemblClinVar.1
Natural variantiVAR_015153126G → A3 PublicationsCorresponds to variant dbSNP:rs3737084EnsemblClinVar.1
Natural variantiVAR_060934134E → G in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs765679726Ensembl.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 dbSNP:rs137852965EnsemblClinVar.1
Natural variantiVAR_060935249R → P in NBIA1. 1 Publication1
Natural variantiVAR_015156264R → W in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs137852961EnsemblClinVar.1
Natural variantiVAR_015157278R → C in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs137852966EnsemblClinVar.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 dbSNP:rs137852962EnsemblClinVar.1
Natural variantiVAR_060937322E → D in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs974575417Ensembl.1
Natural variantiVAR_060938322E → G in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs768230831Ensembl.1
Natural variantiVAR_015160327T → I in NBIA1. 1 Publication1
Natural variantiVAR_015161351S → P in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs137852964EnsemblClinVar.1
Natural variantiVAR_015162355N → S in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs746484727Ensembl.1
Natural variantiVAR_060939357R → Q in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs754521581Ensembl.1
Natural variantiVAR_076595377F → S in NBIA1; atypical; unknown pathological significance. 1 Publication1
Natural variantiVAR_060940398A → T in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs759223327Ensembl.1
Natural variantiVAR_015163404N → I in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs752078407Ensembl.1
Natural variantiVAR_015164413L → P in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs750176786Ensembl.1
Natural variantiVAR_060941425Missing in NBIA1. 1 Publication1
Natural variantiVAR_060942428C → Y in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs1012947103Ensembl.1
Natural variantiVAR_060943447D → N in NBIA1. 1 Publication1
Natural variantiVAR_015165471S → N in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs137852963EnsemblClinVar.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 dbSNP:rs759332123Ensembl.1
Natural variantiVAR_060944501I → T in NBIA1; atypical. 1 PublicationCorresponds to variant dbSNP:rs775459398Ensembl.1
Natural variantiVAR_060945509A → V in NBIA1. 1 Publication1
Natural variantiVAR_060946511N → D in NBIA1. 1 PublicationCorresponds to variant dbSNP:rs767653843Ensembl.1
Natural variantiVAR_015168521G → R in NBIA1; classic and atypical forms. 3 PublicationsCorresponds to variant dbSNP:rs137852959EnsemblClinVar.1
Natural variantiVAR_015169528T → M in NBIA1; classic and atypical forms; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs137852967EnsemblClinVar.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 dbSNP:rs41279408Ensembl.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
AL031670 Genomic DNA No translation available.
AL353194 Genomic DNA No translation available.
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

Similar proteinsi

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
AL031670 Genomic DNA No translation available.
AL353194 Genomic DNA No translation available.
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, 23 interactors
IntActiQ9BZ23, 3 interactors
MINTiQ9BZ23
STRINGi9606.ENSP00000313377

Chemistry databases

BindingDBiQ9BZ23
ChEMBLiCHEMBL3407327

PTM databases

iPTMnetiQ9BZ23
PhosphoSitePlusiQ9BZ23

Polymorphism and mutation databases

BioMutaiPANK2
DMDMi118572682

Proteomic databases

EPDiQ9BZ23
MaxQBiQ9BZ23
PaxDbiQ9BZ23
PeptideAtlasiQ9BZ23
PRIDEiQ9BZ23
ProteomicsDBi79754
79755 [Q9BZ23-2]
79756 [Q9BZ23-3]
79757 [Q9BZ23-4]
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
EuPathDBiHostDB:ENSG00000125779.21
GeneCardsiPANK2
GeneReviewsiPANK2
HGNCiHGNC:15894 PANK2
HPAiHPA008440
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
OMAiELCVMAT
OrthoDBiEOG091G0851
PhylomeDBiQ9BZ23
TreeFamiTF314866

Enzyme and pathway databases

UniPathwayi
UPA00241;UER00352

BioCyciMetaCyc:HS13177-MONOMER
BRENDAi2.7.1.33 2681
ReactomeiR-HSA-196783 Coenzyme A biosynthesis
SABIO-RKiQ9BZ23

Miscellaneous databases

ChiTaRSiPANK2 human
GeneWikiiPANK2_(gene)
GenomeRNAii80025
PROiPR:Q9BZ23
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125779 Expressed in 223 organ(s), highest expression level in endothelial cell
CleanExiHS_PANK2
ExpressionAtlasiQ9BZ23 baseline and differential
GenevisibleiQ9BZ23 HS

Family and domain databases

InterProiView protein in InterPro
IPR004567 Type_II_PanK
PfamiView protein in Pfam
PF03630 Fumble, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: November 28, 2006
Last modified: September 12, 2018
This is version 164 of the entry and version 3 of the sequence. See 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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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