位置:首页 > 蛋白库 > GNTK_HUMAN
GNTK_HUMAN
ID   GNTK_HUMAN              Reviewed;         187 AA.
AC   Q5T6J7; A5PLN6; Q5T6J6;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   21-DEC-2004, sequence version 1.
DT   03-AUG-2022, entry version 135.
DE   RecName: Full=Probable gluconokinase;
DE            EC=2.7.1.12;
DE   AltName: Full=Gluconate kinase;
GN   Name=IDNK; Synonyms=C9orf103;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC   TISSUE=Bone marrow;
RX   PubMed=16015647; DOI=10.1002/gcc.20236;
RA   Sweetser D.A., Peniket A.J., Haaland C., Blomberg A.A., Zhang Y.,
RA   Zaidi S.T., Dayyani F., Zhao Z., Heerema N.A., Boultwood J., Dewald G.W.,
RA   Paietta E., Slovak M.L., Willman C.L., Wainscoat J.S., Bernstein I.D.,
RA   Daly S.B.;
RT   "Delineation of the minimal commonly deleted segment and identification of
RT   candidate tumor-suppressor genes in del(9q) acute myeloid leukemia.";
RL   Genes Chromosomes Cancer 44:279-291(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA   Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA   Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA   Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA   Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA   Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA   Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA   Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA   Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA   Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA   Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA   Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA   McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA   Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA   Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA   Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA   Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA   West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA   Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA   Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Liver;
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA   Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT   phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=ATP + D-gluconate = 6-phospho-D-gluconate + ADP + H(+);
CC         Xref=Rhea:RHEA:19433, ChEBI:CHEBI:15378, ChEBI:CHEBI:18391,
CC         ChEBI:CHEBI:30616, ChEBI:CHEBI:58759, ChEBI:CHEBI:456216;
CC         EC=2.7.1.12;
CC   -!- PATHWAY: Carbohydrate acid metabolism; D-gluconate degradation.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q5T6J7-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q5T6J7-2; Sequence=VSP_032736;
CC       Name=3;
CC         IsoId=Q5T6J7-3; Sequence=VSP_032735;
CC   -!- SIMILARITY: Belongs to the gluconokinase GntK/GntV family.
CC       {ECO:0000305}.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; AY615889; AAT27441.1; -; mRNA.
DR   EMBL; AL354920; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471089; EAW62654.1; -; Genomic_DNA.
DR   EMBL; CH471089; EAW62657.1; -; Genomic_DNA.
DR   EMBL; BC142991; AAI42992.1; -; mRNA.
DR   CCDS; CCDS35048.2; -. [Q5T6J7-1]
DR   CCDS; CCDS59134.1; -. [Q5T6J7-3]
DR   RefSeq; NP_001001551.2; NM_001001551.3. [Q5T6J7-1]
DR   RefSeq; NP_001243844.1; NM_001256915.1. [Q5T6J7-3]
DR   RefSeq; XP_006717173.1; XM_006717110.3. [Q5T6J7-2]
DR   RefSeq; XP_016870213.1; XM_017014724.1. [Q5T6J7-3]
DR   RefSeq; XP_016870214.1; XM_017014725.1.
DR   AlphaFoldDB; Q5T6J7; -.
DR   SMR; Q5T6J7; -.
DR   BioGRID; 136064; 4.
DR   STRING; 9606.ENSP00000365601; -.
DR   GlyGen; Q5T6J7; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q5T6J7; -.
DR   PhosphoSitePlus; Q5T6J7; -.
DR   BioMuta; IDNK; -.
DR   DMDM; 74745228; -.
DR   EPD; Q5T6J7; -.
DR   jPOST; Q5T6J7; -.
DR   MassIVE; Q5T6J7; -.
DR   MaxQB; Q5T6J7; -.
DR   PaxDb; Q5T6J7; -.
DR   PeptideAtlas; Q5T6J7; -.
DR   PRIDE; Q5T6J7; -.
DR   ProteomicsDB; 64588; -. [Q5T6J7-1]
DR   ProteomicsDB; 64589; -. [Q5T6J7-2]
DR   ProteomicsDB; 64590; -. [Q5T6J7-3]
DR   Antibodypedia; 13014; 118 antibodies from 21 providers.
DR   DNASU; 414328; -.
DR   Ensembl; ENST00000376419.5; ENSP00000365601.4; ENSG00000148057.16. [Q5T6J7-1]
DR   Ensembl; ENST00000454393.5; ENSP00000403290.2; ENSG00000148057.16. [Q5T6J7-3]
DR   GeneID; 414328; -.
DR   KEGG; hsa:414328; -.
DR   MANE-Select; ENST00000376419.5; ENSP00000365601.4; NM_001001551.4; NP_001001551.2.
DR   UCSC; uc004amu.4; human. [Q5T6J7-1]
DR   CTD; 414328; -.
DR   GeneCards; IDNK; -.
DR   HGNC; HGNC:31367; IDNK.
DR   HPA; ENSG00000148057; Tissue enhanced (liver).
DR   MIM; 611343; gene.
DR   neXtProt; NX_Q5T6J7; -.
DR   OpenTargets; ENSG00000148057; -.
DR   PharmGKB; PA134880846; -.
DR   VEuPathDB; HostDB:ENSG00000148057; -.
DR   eggNOG; KOG3354; Eukaryota.
DR   GeneTree; ENSGT00390000003364; -.
DR   HOGENOM; CLU_077168_4_0_1; -.
DR   InParanoid; Q5T6J7; -.
DR   OMA; ENFIQVS; -.
DR   OrthoDB; 1275465at2759; -.
DR   PhylomeDB; Q5T6J7; -.
DR   TreeFam; TF315136; -.
DR   BioCyc; MetaCyc:HS14230-MON; -.
DR   BRENDA; 2.7.1.12; 2681.
DR   PathwayCommons; Q5T6J7; -.
DR   UniPathway; UPA00792; -.
DR   BioGRID-ORCS; 414328; 11 hits in 1070 CRISPR screens.
DR   ChiTaRS; IDNK; human.
DR   GenomeRNAi; 414328; -.
DR   Pharos; Q5T6J7; Tbio.
DR   PRO; PR:Q5T6J7; -.
DR   Proteomes; UP000005640; Chromosome 9.
DR   RNAct; Q5T6J7; protein.
DR   Bgee; ENSG00000148057; Expressed in kidney epithelium and 176 other tissues.
DR   ExpressionAtlas; Q5T6J7; baseline and differential.
DR   Genevisible; Q5T6J7; HS.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0046316; F:gluconokinase activity; IBA:GO_Central.
DR   GO; GO:0046177; P:D-gluconate catabolic process; IBA:GO_Central.
DR   GO; GO:0016310; P:phosphorylation; IEA:UniProtKB-KW.
DR   CDD; cd02021; GntK; 1.
DR   Gene3D; 3.40.50.300; -; 1.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   InterPro; IPR031322; Shikimate/glucono_kinase.
DR   InterPro; IPR006001; Therm_gnt_kin.
DR   PANTHER; PTHR43442; PTHR43442; 1.
DR   Pfam; PF01202; SKI; 1.
DR   SUPFAM; SSF52540; SSF52540; 1.
DR   TIGRFAMs; TIGR01313; therm_gnt_kin; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; ATP-binding; Kinase; Nucleotide-binding;
KW   Reference proteome; Transferase.
FT   CHAIN           1..187
FT                   /note="Probable gluconokinase"
FT                   /id="PRO_0000327370"
FT   BINDING         11..18
FT                   /ligand="ATP"
FT                   /ligand_id="ChEBI:CHEBI:30616"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..46
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_032735"
FT   VAR_SEQ         1..17
FT                   /note="MAAPGALLVMGVSGSGK -> MKKPRPAAAAPSPRPPACSRGAHPGTASELR
FT                   VPALRRGGCGDRRLREEAAPEQAAAGPRR (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_032736"
FT   VARIANT         185
FT                   /note="K -> T (in dbSNP:rs1052690)"
FT                   /id="VAR_042433"
SQ   SEQUENCE   187 AA;  20578 MW;  3E95DDC781422BF5 CRC64;
     MAAPGALLVM GVSGSGKSTV GALLASELGW KFYDADDYHP EENRRKMGKG IPLNDQDRIP
     WLCNLHDILL RDVASGQRVV LACSALKKTY RDILTQGKDG VALKCEESGK EAKQAEMQLL
     VVHLSGSFEV ISGRLLKREG HFMPPELLQS QFETLEPPAA PENFIQISVD KNVSEIIATI
     METLKMK
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024