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Q9UHJ6 (SHPK_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sedoheptulokinase

Short name=SHK
EC=2.7.1.14
Alternative name(s):
Carbohydrate kinase-like protein
Gene names
Name:SHPK
Synonyms:CARKL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length478 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts as a modulator of macrophage activation through control of glucose metabolism By similarity.

Catalytic activity

ATP + sedoheptulose = ADP + sedoheptulose 7-phosphate. Ref.7

Subcellular location

Cytoplasm By similarity.

Tissue specificity

Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain. Ref.1

Induction

Down-regulated by LPS. Ref.10

Sequence similarities

Belongs to the FGGY kinase family.

Biophysicochemical properties

Kinetic parameters:

KM=0.06 mM for sedoheptulose Ref.7

pH dependence:

Optimum pH is 8.5.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.8
Chain2 – 478477Sedoheptulokinase
PRO_0000059564

Amino acid modifications

Modified residue21N-acetylalanine Ref.8

Natural variations

Natural variant2151E → K. Ref.1
Corresponds to variant rs150857 [ dbSNP | Ensembl ].
VAR_042580
Natural variant4211D → E. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs224496 [ dbSNP | Ensembl ].
VAR_048591
Natural variant4341L → M.
Corresponds to variant rs36125540 [ dbSNP | Ensembl ].
VAR_048592

Sequences

Sequence LengthMass (Da)Tools
Q9UHJ6 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 0C920A380927AC1E

FASTA47851,491
        10         20         30         40         50         60 
MAARPITLGI DLGTTSVKAA LLRAAPDDPS GFAVLASCAR AARAEAAVES AVAGPQGREQ 

        70         80         90        100        110        120 
DVSRILQALH ECLAALPRPQ LRSVVGIGVS GQMHGVVFWK TGQGCEWTEG GITPVFEPRA 

       130        140        150        160        170        180 
VSHLVTWQDG RCSSEFLASL PQPKSHLSVA TGFGCATIFW LLKYRPEFLK SYDAAGTIHD 

       190        200        210        220        230        240 
YVVAMLCGLP RPLMSDQNAA SWGYFNTQSQ SWNVETLRSS GFPVHLLPDI AEPGSVAGRT 

       250        260        270        280        290        300 
SHMWFEIPKG TQVGVALGDL QASVYSCMAQ RTDAVLNIST SVQLAASMPS GFQPAQTPDP 

       310        320        330        340        350        360 
TAPVAYFPYF NRTYLGVAAS LNGGNVLATF VHMLVQWMAD LGLEVEESTV YSRMIQAAVQ 

       370        380        390        400        410        420 
QRDTHLTITP TVLGERHLPD QLASVTRISS SDLSLGHVTR ALCRGIVQNL HSMLPIQQLQ 

       430        440        450        460        470 
DWGVERVMGS GSALSRNDVL KQEVQRAFPL PMSFGQDVDA AVGAALVMLR RHLNQKES 

« Hide

References

« Hide 'large scale' references
[1]"The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion."
Touchman J.W., Anikster Y., Dietrich N.L., Maduro V.V.B., McDowell G., Shotelersuk V., Bouffard G.G., Beckstrom-Sternberg S.M., Gahl W.A., Green E.D.
Genome Res. 10:165-173(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY, VARIANTS LYS-215 AND GLU-421.
Tissue: Fetal kidney.
[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. expand/collapse author list , 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], VARIANT GLU-421.
Tissue: Brain.
[3]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLU-421.
Tissue: Melanoma.
[4]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [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. expand/collapse author list , 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], VARIANT GLU-421.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLU-421.
Tissue: Liver.
[7]"Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene."
Wamelink M.M., Struys E.A., Jansen E.E., Levtchenko E.N., Zijlstra F.S., Engelke U., Blom H.J., Jakobs C., Wevers R.A.
Hum. Mutat. 29:532-536(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES.
[8]"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] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism."
Haschemi A., Kosma P., Gille L., Evans C.R., Burant C.F., Starkl P., Knapp B., Haas R., Schmid J.A., Jandl C., Amir S., Lubec G., Park J., Esterbauer H., Bilban M., Brizuela L., Pospisilik J.A., Otterbein L.E., Wagner O.
Cell Metab. 15:813-826(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF163573 mRNA. Translation: AAF24936.1.
AF168787 Genomic DNA. Translation: AAF43103.1.
AK312428 mRNA. Translation: BAG35337.1.
AL832420 mRNA. Translation: CAH10646.1.
AC027796 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW90501.1.
BC020543 mRNA. Translation: AAH20543.1.
RefSeqNP_037408.2. NM_013276.2.
UniGeneHs.579217.

3D structure databases

ProteinModelPortalQ9UHJ6.
SMRQ9UHJ6. Positions 8-374, 393-471.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117235. 2 interactions.
IntActQ9UHJ6. 1 interaction.
STRING9606.ENSP00000225519.

PTM databases

PhosphoSiteQ9UHJ6.

Polymorphism databases

DMDM296452959.

Proteomic databases

PaxDbQ9UHJ6.
PRIDEQ9UHJ6.

Protocols and materials databases

DNASU23729.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000225519; ENSP00000225519; ENSG00000197417.
GeneID23729.
KEGGhsa:23729.
UCSCuc002fvz.1. human.

Organism-specific databases

CTD23729.
GeneCardsGC17M003514.
HGNCHGNC:1492. SHPK.
HPAHPA024361.
MIM605060. gene.
neXtProtNX_Q9UHJ6.
PharmGKBPA162403312.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1070.
HOGENOMHOG000008078.
HOVERGENHBG050796.
InParanoidQ9UHJ6.
KOK11214.
OMAFQCSVYS.
PhylomeDBQ9UHJ6.
TreeFamTF315140.

Gene expression databases

BgeeQ9UHJ6.
CleanExHS_SHPK.
GenevestigatorQ9UHJ6.

Family and domain databases

InterProIPR018484. Carb_kinase_FGGY_N.
IPR028491. Sedoheptulokinase.
[Graphical view]
PANTHERPTHR10196:SF22. PTHR10196:SF22. 1 hit.
PfamPF00370. FGGY_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi23729.
NextBio46633.
PROQ9UHJ6.
SOURCESearch...

Entry information

Entry nameSHPK_HUMAN
AccessionPrimary (citable) accession number: Q9UHJ6
Secondary accession number(s): B2R640, Q8WUH3
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 106 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM