LOCUS       NM_013276               3788 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens sedoheptulokinase (SHPK), mRNA.
ACCESSION   NM_013276
VERSION     NM_013276.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3788)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 3788)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   3  (bases 1 to 3788)
  AUTHORS   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. and Wagner,O.
  TITLE     The sedoheptulose kinase CARKL directs macrophage polarization
            through control of glucose metabolism
  JOURNAL   Cell Metab 15 (6), 813-826 (2012)
   PUBMED   22682222
  REMARK    GeneRIF: CARKL-dependent metabolic reprogramming is required for
            proper M1- and M2-like macrophage polarization
REFERENCE   4  (bases 1 to 3788)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 3788)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3788)
  AUTHORS   Lanktree,M.B., Hegele,R.A., Yusuf,S. and Anand,S.S.
  TITLE     Multi-ethnic genetic association study of carotid intima-media
            thickness using a targeted cardiovascular SNP microarray
  JOURNAL   Stroke 40 (10), 3173-3179 (2009)
   PUBMED   19679847
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3788)
  AUTHORS   Gauci,S., Helbig,A.O., Slijper,M., Krijgsveld,J., Heck,A.J. and
            Mohammed,S.
  TITLE     Lys-N and trypsin cover complementary parts of the phosphoproteome
            in a refined SCX-based approach
  JOURNAL   Anal Chem 81 (11), 4493-4501 (2009)
   PUBMED   19413330
REFERENCE   8  (bases 1 to 3788)
  AUTHORS   Wamelink,M.M., Struys,E.A., Jansen,E.E., Levtchenko,E.N.,
            Zijlstra,F.S., Engelke,U., Blom,H.J., Jakobs,C. and Wevers,R.A.
  TITLE     Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis
            patients causes urinary accumulation of sedoheptulose: elucidation
            of the CARKL gene
  JOURNAL   Hum Mutat 29 (4), 532-536 (2008)
   PUBMED   18186520
  REMARK    GeneRIF: the CARKL-encoded protein, sedoheptulokinase (SHK), is
            responsible for the reaction: sedoheptulose + ATP -->
            sedoheptulose-7-phosphate + ADP, and deletion of CARKL causes
            urinary accumulation of sedoheptulose and erythritol
REFERENCE   9  (bases 1 to 3788)
  AUTHORS   Touchman,J.W., Anikster,Y., Dietrich,N.L., Maduro,V.V.,
            McDowell,G., Shotelersuk,V., Bouffard,G.G.,
            Beckstrom-Sternberg,S.M., Gahl,W.A. and Green,E.D.
  TITLE     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
  JOURNAL   Genome Res 10 (2), 165-173 (2000)
   PUBMED   10673275
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF163573.1, BC020543.1 and
            AC027796.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_013276.3.
            
            Summary: The protein encoded by this gene has weak homology to
            several carbohydrate kinases, a class of proteins involved in the
            phosphorylation of sugars as they enter a cell, inhibiting return
            across the cell membrane. Sequence variation between this novel
            gene and known carbohydrate kinases suggests the possibility of a
            different substrate, cofactor or changes in kinetic properties
            distinguishing it from other carbohydrate kinases. The gene resides
            in a region commonly deleted in cystinosis patients, suggesting a
            role as a modifier for the cystinosis phenotype. The genomic region
            is also rich in Alu repetitive sequences, frequently involved in
            chromosomal rearrangements. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF163573.1, BC020543.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225519.5/ ENSP00000225519.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-673               AF163573.1         73-745
            674-1293            BC020543.1         702-1321
            1294-2194           AF163573.1         1366-2266
            2195-2701           BC020543.1         2223-2729
            2702-3766           AF163573.1         2774-3838
            3767-3788           AC027796.9         54641-54662
FEATURES             Location/Qualifiers
     source          1..3788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..3788
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /note="sedoheptulokinase"
                     /db_xref="GeneID:23729"
                     /db_xref="HGNC:HGNC:1492"
                     /db_xref="MIM:605060"
     exon            1..199
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1468
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /EC_number="2.7.1.14"
                     /note="carbohydrate kinase-like protein"
                     /codon_start=1
                     /product="sedoheptulokinase"
                     /protein_id="NP_037408.2"
                     /db_xref="CCDS:CCDS11030.1"
                     /db_xref="GeneID:23729"
                     /db_xref="HGNC:HGNC:1492"
                     /db_xref="MIM:605060"
                     /translation="MAARPITLGIDLGTTSVKAALLRAAPDDPSGFAVLASCARAARA
                     EAAVESAVAGPQGREQDVSRILQALHECLAALPRPQLRSVVGIGVSGQMHGVVFWKTG
                     QGCEWTEGGITPVFEPRAVSHLVTWQDGRCSSEFLASLPQPKSHLSVATGFGCATIFW
                     LLKYRPEFLKSYDAAGTIHDYVVAMLCGLPRPLMSDQNAASWGYFNTQSQSWNVETLR
                     SSGFPVHLLPDIAEPGSVAGRTSHMWFEIPKGTQVGVALGDLQASVYSCMAQRTDAVL
                     NISTSVQLAASMPSGFQPAQTPDPTAPVAYFPYFNRTYLGVAASLNGGNVLATFVHML
                     VQWMADLGLEVEESTVYSRMIQAAVQQRDTHLTITPTVLGERHLPDQLASVTRISSSD
                     LSLGHVTRALCRGIVQNLHSMLPIQQLQEWGVERVMGSGSALSRNDVLKQEVQRAFPL
                     PMSFGQDVDAAVGAALVMLRRHLNQKES"
     exon            200..341
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /inference="alignment:Splign:2.1.0"
     exon            342..525
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /inference="alignment:Splign:2.1.0"
     exon            526..678
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /inference="alignment:Splign:2.1.0"
     exon            679..854
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /inference="alignment:Splign:2.1.0"
     exon            855..1055
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..3788
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3403..3408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /note="hexamer: ATTAAA"
     polyA_site      3429
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /note="major polyA site"
     regulatory      3768..3773
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
                     /note="hexamer: AAGAAA"
     polyA_site      3788
                     /gene="SHPK"
                     /gene_synonym="CARKL; SHK"
ORIGIN      
        1 gcagactgga gctgcgcggg tcagggagat aatggctgcg cggccgatca ccctcggcat
       61 tgacctgggc accacatctg tgaaggcagc tctgctgagg gccgcgcccg acgacccatc
      121 cgggttcgca gtgctggcga gctgtgcccg tgctgcgcgg gcagaggcgg cggtcgagag
      181 cgcggtggcc gggccccagg ggcgggagca ggatgtgagt agaatcctcc aagccctaca
      241 cgagtgcctt gctgcccttc cccgacccca gctccggagc gtcgtgggca tcggggtgtc
      301 gggccagatg catggagtcg tgttttggaa aacaggccaa ggctgtgaat ggacagaggg
      361 agggattacc ccggtgttcg agccccgagc tgttagccac ctggtcacgt ggcaggatgg
      421 ccgatgtagc agcgaattcc tggcctctct gccccagccg aagtctcatc tcagtgtggc
      481 cacgggcttc ggctgtgcaa ccatcttctg gcttttgaaa tatcgcccag agttcctgaa
      541 gtcctacgac gcagccggta ccatccacga ctatgtggtt gccatgctgt gtggcttgcc
      601 aagacctctg atgtccgacc agaatgctgc cagctggggc tatttcaaca cgcagagcca
      661 aagctggaac gtagagacac tgaggagctc gggttttcct gtccacctgc tcccagacat
      721 cgccgagcct ggcagtgtgg cgggcagaac ttcccacatg tggtttgaaa tcccaaaggg
      781 gacgcaggtg ggagtggcct tgggtgattt acaggcctct gtctattcct gcatggccca
      841 gaggacagat gcagttctca acatcagcac ctcggttcag ctggcagcct ccatgccttc
      901 aggattccag cctgcacaga ctccagaccc tacggcccca gtcgcctact tcccatactt
      961 caacaggacc tacctggggg tggccgcgtc actcaacggg ggcaatgtgc tggccacgtt
     1021 cgtccacatg ctggttcagt ggatggcaga tctaggcctg gaggttgaag aatccactgt
     1081 gtattcacgc atgattcagg cagctgtgca gcagagagat acccacctga ccatcacccc
     1141 gacagtgctg ggggagaggc acctgccgga ccagctggcc tcagtgacca gaatctcctc
     1201 ctccgacctc tccctggggc acgtgacccg ggctctgtgc cgaggcattg ttcagaacct
     1261 gcactccatg cttccgattc agcagctcca ggagtggggc gtggagaggg tgatgggcag
     1321 tgggagtgcg ctgtccagga atgacgtgct gaagcaggag gtgcagaggg ctttcccttt
     1381 gcccatgtcc tttgggcagg atgtggatgc agctgtcggg gcagctctgg tcatgctccg
     1441 gagacacctc aaccagaagg aatcttagac agcaaactct ttcgccaaac gactgctgtg
     1501 aattttacct gattaacatt cctgacacca tctgtgggtc atcctttccc tggaccgttc
     1561 agtggacagc tttcaagcag tgcttgttgt gaggtcccat ctcggccaag aacttacctt
     1621 cagaacatac tctaataatg cagccaggag ccgtcagcca gatcccaaat gagtgccttc
     1681 cgaaattgac ccacctggga gctatttaca aatgtccatg tgggagagag agagcatgag
     1741 agcacagtag cccagcctgc tggtcagcag gctcatctgt ggttcacctg tagacagaga
     1801 gcagatcaat gtgtacttca gacaccagaa agtctggtgg ctttggtccc aagtgggaaa
     1861 agagaactgc cccatgccca gcttgtgatt atcgtttttg gagacctgaa gcccacactc
     1921 gggtcgtatg gacttctgga aaagttcttg tctcctggac tgaaccatgt gaccggaggc
     1981 ccctttccta gtctcatcct cccctggctg cagatgctta gctgggccag ggattgaccc
     2041 aagcgcgatg cagcaggcag gctcagaaga cgatgcgggg ctgtgtgccg gccttcttgc
     2101 tgcatgtact cagcctcagg agagcttgct gcacccaggc cgcccaggtc ttcacagcac
     2161 aactgcctgg aaggcaggtt gcgagaagga gaggcggatg gcatgagcag caagggggac
     2221 cgatgctgtg cagctcacac cactccagaa cctgacaagg caccagcagg accccttgcc
     2281 aggagcatgt ctgtgcagca gtgtttttgc ccctgcacat tccagaagcc ctcatgggaa
     2341 gggatgcagc caggcagact cctgccagat ggggcaggta gtttattcaa agagaactct
     2401 gtatcccata ggcccaggct ctcctttcgc ttggcgtggg ctttgctggc ccagtgtgtg
     2461 ctcctggctc agcagaaaca tccatttgag ttggcatccc tgtagggatc ccagagcgtt
     2521 gtaagccttc ttgtgattgg tagggatggc tgtggggtgg cttccaggag ggggccacca
     2581 ttgccgcatc tacttctaga ctcccaaagg agcccaggct caggcaggcc tggcccagag
     2641 tcacgctggc aaccacgagt ttgggaagca gtcgtattct ctctctctct ctctctctct
     2701 ctctcagtat ccatgacagg tatgaaacat attgtctctt tataaatgtc attttacaaa
     2761 ttatgtgatt atctggaagc tctaagatga gagcaaatgc ctgatcactc tggccaaatg
     2821 tcagatacta aagcccattc ttggccgggc atgttggctc ccgcctgtaa tcccagcact
     2881 ttgggaagcc caagtgggtg aatcacctga ggtcaggagt tcaagaccag cctgaccaac
     2941 atggggatac cccgtctcta ctaaaaatac aagccgggcg tggtggcgca tgcctgtaat
     3001 cccagctact caggaggctg aggcaggaaa atcacttgaa ctcgggaggc agaggttgca
     3061 gtgagctgag atcgcgccat tgcactccag cctgggtgac agagcaagac tctgtctcat
     3121 aaataaatac aaagcccatt cttccagagt cttgtgcctt aaataaaaca cacctctctg
     3181 ctgtgggaag actgtgcaat ggcacagccg cagagcttgg tttgggaggt tgaagtgctc
     3241 tggggagaat tcgtagatca tcctcagaaa agccttgccc tggtgttcta ccagaaaaac
     3301 gtctcccaat cacccaggaa agctgtccac agtagtcccc ccttatccac ggtgtcactt
     3361 tccatgggtt cagttatctg cggtcaacca cggtctgaca atattaaatg gaaaattctt
     3421 caaacagttc ccaagttttc ccttgtgcat tgttctgagc agtgtgatgg agagtctctg
     3481 ccgtgccatc tgggatgcaa accgtccctg tgttccccac gtccaggccg tagatgctcc
     3541 ccgccggtca gtcacttagt cgtcagatcg cccgtcctgg tatcacagtg cttctgttca
     3601 ggtcagtctt tttttacttc attagggccc caaagcacca gagtagtgat gctggtagtg
     3661 atgctggctg ttcggatatg ccaaagagaa accgtaaggt gcttccttta agtgaaaaga
     3721 tgggaagaaa acagtcatat gctgaatctt ctatctgtga aattctaaag aaaaagaaat
     3781 tcgtgcta
//
