LOCUS       NM_032237               1868 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens protein O-mannose kinase (POMK), transcript variant 1,
            mRNA.
ACCESSION   NM_032237
VERSION     NM_032237.5
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 1868)
  AUTHORS   Buljan,M., Ciuffa,R., van Drogen,A., Vichalkovski,A., Mehnert,M.,
            Rosenberger,G., Lee,S., Varjosalo,M., Pernas,L.E., Spegg,V.,
            Snijder,B., Aebersold,R. and Gstaiger,M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
  REMARK    GeneRIF: Kinase Interaction Network Expands Functional and Disease
            Roles of Human Kinases.
REFERENCE   2  (bases 1 to 1868)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1868)
  AUTHORS   Preiksaitiene,E., Voisin,N., Gueneau,L., Benusiene,E.,
            Krasovskaja,N., Blazyte,E.M., Ambrozaityte,L., Rancelis,T.,
            Reymond,A. and Kucinskas,V.
  TITLE     Pathogenic homozygous variant in POMK gene is the cause of
            prenatally detected severe ventriculomegaly in two Lithuanian
            families
  JOURNAL   Am J Med Genet A 182 (3), 536-542 (2020)
   PUBMED   31833209
  REMARK    GeneRIF: Pathogenic homozygous variant in POMK gene is the cause of
            prenatally detected severe ventriculomegaly in two Lithuanian
            families.
REFERENCE   4  (bases 1 to 1868)
  AUTHORS   Di Costanzo,S., Balasubramanian,A., Pond,H.L., Rozkalne,A.,
            Pantaleoni,C., Saredi,S., Gupta,V.A., Sunu,C.M., Yu,T.W.,
            Kang,P.B., Salih,M.A., Mora,M., Gussoni,E., Walsh,C.A. and
            Manzini,M.C.
  TITLE     POMK mutations disrupt muscle development leading to a spectrum of
            neuromuscular presentations
  JOURNAL   Hum Mol Genet 23 (21), 5781-5792 (2014)
   PUBMED   24925318
  REMARK    GeneRIF: POMK mutations disrupt muscle development leading to a
            spectrum of neuromuscular presentations.
REFERENCE   5  (bases 1 to 1868)
  AUTHORS   von Renesse,A., Petkova,M.V., Lutzkendorf,S., Heinemeyer,J.,
            Gill,E., Hubner,C., von Moers,A., Stenzel,W. and Schuelke,M.
  TITLE     POMK mutation in a family with congenital muscular dystrophy with
            merosin deficiency, hypomyelination, mild hearing deficit and
            intellectual disability
  JOURNAL   J Med Genet 51 (4), 275-282 (2014)
   PUBMED   24556084
  REMARK    GeneRIF: Homozygous truncating mutations in POMK lead to congenital
            muscular dystrophies with secondary merosin deficiency,
            hypomyelination and intellectual disability.
REFERENCE   6  (bases 1 to 1868)
  AUTHORS   Yoshida-Moriguchi,T., Willer,T., Anderson,M.E., Venzke,D.,
            Whyte,T., Muntoni,F., Lee,H., Nelson,S.F., Yu,L. and Campbell,K.P.
  TITLE     SGK196 is a glycosylation-specific O-mannose kinase required for
            dystroglycan function
  JOURNAL   Science 341 (6148), 896-899 (2013)
   PUBMED   23929950
  REMARK    GeneRIF: These findings suggest how mutations in GTDC2, B3GALNT2,
            and SGK196 disrupt dystroglycan receptor function and lead to
            congenital muscular dystrophy.
REFERENCE   7  (bases 1 to 1868)
  AUTHORS   Jae,L.T., Raaben,M., Riemersma,M., van Beusekom,E., Blomen,V.A.,
            Velds,A., Kerkhoven,R.M., Carette,J.E., Topaloglu,H., Meinecke,P.,
            Wessels,M.W., Lefeber,D.J., Whelan,S.P., van Bokhoven,H. and
            Brummelkamp,T.R.
  TITLE     Deciphering the glycosylome of dystroglycanopathies using haploid
            screens for lassa virus entry
  JOURNAL   Science 340 (6131), 479-483 (2013)
   PUBMED   23519211
REFERENCE   8  (bases 1 to 1868)
  AUTHORS   Vogel,P., Read,R.W., Hansen,G.M., Payne,B.J., Small,D., Sands,A.T.
            and Zambrowicz,B.P.
  TITLE     Congenital hydrocephalus in genetically engineered mice
  JOURNAL   Vet Pathol 49 (1), 166-181 (2012)
   PUBMED   21746835
REFERENCE   9  (bases 1 to 1868)
  AUTHORS   Boudeau,J., Miranda-Saavedra,D., Barton,G.J. and Alessi,D.R.
  TITLE     Emerging roles of pseudokinases
  JOURNAL   Trends Cell Biol 16 (9), 443-452 (2006)
   PUBMED   16879967
  REMARK    Review article
REFERENCE   10 (bases 1 to 1868)
  AUTHORS   Manning,G., Whyte,D.B., Martinez,R., Hunter,T. and Sudarsanam,S.
  TITLE     The protein kinase complement of the human genome
  JOURNAL   Science 298 (5600), 1912-1934 (2002)
   PUBMED   12471243
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA330953.1, BC101548.1,
            EH337134.1, BQ365114.1 and AC113191.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_032237.4.
            
            Summary: This gene encodes a protein that may be involved in the
            presentation of the laminin-binding O-linked carbohydrate chain of
            alpha-dystroglycan (a-DG), which forms transmembrane linkages
            between the extracellular matrix and the exoskeleton. Some
            pathogens use this O-linked carbohydrate unit for host entry. Loss
            of function compound heterozygous mutations in this gene were found
            in a human patient affected by the Walker-Warburg syndrome (WWS)
            phenotype. Mice lacking this gene contain misplaced neurons
            (heterotopia) in some regions of the brain, possibly from defects
            in neuronal migration. Alternative splicing of this gene results in
            multiple transcript variants. [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.123243.1,
                                           SRR1803615.222841.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331373.10/ ENSP00000331258.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-568               DA330953.1         1-568
            569-1334            BC101548.1         349-1114
            1335-1397           EH337134.1         10-72
            1398-1461           BQ365114.1         46-109              c
            1462-1868           AC113191.13        78195-78601
FEATURES             Location/Qualifiers
     source          1..1868
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..1868
                     /gene="POMK"
                     /gene_synonym="MDDGA12; MDDGC12; SGK196"
                     /note="protein O-mannose kinase"
                     /db_xref="GeneID:84197"
                     /db_xref="HGNC:HGNC:26267"
                     /db_xref="MIM:615247"
     exon            1..49
                     /gene="POMK"
                     /gene_synonym="MDDGA12; MDDGC12; SGK196"
                     /inference="alignment:Splign:2.1.0"
     exon            50..141
                     /gene="POMK"
                     /gene_synonym="MDDGA12; MDDGC12; SGK196"
                     /inference="alignment:Splign:2.1.0"
     exon            142..237
                     /gene="POMK"
                     /gene_synonym="MDDGA12; MDDGC12; SGK196"
                     /inference="alignment:Splign:2.1.0"
     exon            238..540
                     /gene="POMK"
                     /gene_synonym="MDDGA12; MDDGC12; SGK196"
                     /inference="alignment:Splign:2.1.0"
     CDS             259..1311
                     /gene="POMK"
                     /gene_synonym="MDDGA12; MDDGC12; SGK196"
                     /EC_number="2.7.1.183"
                     /note="Sugen kinase 196; probable inactive protein
                     kinase-like protein SgK196"
                     /codon_start=1
                     /product="protein O-mannose kinase"
                     /protein_id="NP_115613.1"
                     /db_xref="CCDS:CCDS6141.1"
                     /db_xref="GeneID:84197"
                     /db_xref="HGNC:HGNC:26267"
                     /db_xref="MIM:615247"
                     /translation="MEKQPQNSRRGLAPREVPPAVGLLLIMALMNTLLYLCLDHFFIA
                     PRQSTVDPTHCPYGHFRIGQMKNCSPWLSCEELRTEVRQLKRVGEGAVKRVFLSEWKE
                     HKVALSQLTSLEMKDDFLHGLQMLKSLQGTHVVTLLGYCEDDNTMLTEYHPLGSLSNL
                     EETLNLSKYQNVNTWQHRLELAMDYVSIINYLHHSPVGTRVMCDSNDLPKTLSQYLLT
                     SNFSILANDLDALPLVNHSSGMLVKCGHRELHGDFVAPEQLWPYGEDVPFHDDLMPSY
                     DEKIDIWKIPDISSFLLGHIEGSDMVRFHLFDIHKACKSQTPSERPTAQDVLETYQKV
                     LDTLRDAMMSQAREML"
     exon            541..1868
                     /gene="POMK"
                     /gene_synonym="MDDGA12; MDDGC12; SGK196"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtgcgtgct ggcccggggt ggcaggagcc gcagaggctt gggctgcaga aaaaggatcc
       61 tgtttgctgt gtaatcctga gaatggactg caagagagga aaaactgggc gtctgcttgg
      121 gaatctattg tggaaaccca gggtgtttcc cgaccagtcc ctgggcgcca actagagtat
      181 ggactgacca ggtacctgga tggagacctg agctggagaa ggagatgcgc ttgggaggaa
      241 attgcagagg ccgtcaacat ggaaaagcag ccccagaaca gcaggagagg cctcgccccc
      301 cgagaggtgc cgccagctgt tgggctgctg ctgatcatgg ccctgatgaa tactctgctc
      361 tacctctgcc tcgaccactt cttcatcgct cctcgacaat ccactgtgga ccccacacac
      421 tgtccctatg gtcacttcag gataggacag atgaaaaact gctcaccttg gctgtcctgc
      481 gaggagctga gaacagaagt gagacagctg aagcgtgttg gggaaggagc tgtaaagaga
      541 gtctttctgt ctgagtggaa ggagcacaaa gttgcactct cacagctcac cagcctggag
      601 atgaaagatg atttcctcca tggactgcag atgctgaaat ctctccaagg cacacatgtt
      661 gtcacgctgc ttggctattg tgaggatgac aacactatgc ttactgaata tcaccctcta
      721 ggttccttga gtaacctgga agaaacacta aacctttcaa agtaccaaaa tgtgaacacg
      781 tggcagcaca ggctggagct ggccatggac tatgtcagca tcattaatta cctgcaccac
      841 agccctgtgg gcacacgggt catgtgcgac tccaacgacc tgccgaagac actgtcccag
      901 tatctgctaa caagcaactt cagcattttg gcaaatgact tggacgcctt acccctggtg
      961 aaccacagct ccgggatgct ggtgaagtgc ggccacaggg agctgcatgg ggatttcgtg
     1021 gctccagagc aactgtggcc ctatggagag gacgtgcctt tccacgatga tctcatgccc
     1081 tcatatgatg agaagattga catttggaag atcccagaca tctccagttt ccttctgggg
     1141 cacattgaag ggagtgatat ggtccgattc catttgtttg atattcacaa agcatgcaag
     1201 agccagactc cctcagaaag acccactgcc caggacgttc tggagaccta ccagaaggtc
     1261 ttggatacac ttagagatgc catgatgtct caggcaagag agatgctgtg aaaaccagtc
     1321 cagccaatga aggtgggatt gaagggctga atggaagtta cagcattcta ctctgatggt
     1381 ggagtttttt gcctgagttt cgtgttttat tgtttttttt atggcttagc catgtggttc
     1441 gttgtccaca tccacatgta cgtttgtatg tagtccacat tggttgttag attttttttt
     1501 ttttctttga gatgcggtct tgctctgttg ctgaggctgg agtgcagtga tgtgatcttg
     1561 gctcactgca gcctctgcct cccaggttca agcaattctc ccacctcagc ctcctgagta
     1621 gctgggatta caggcacacc accacgcctg gctaattttt gtatttttag tggaggtggg
     1681 gtttcaccat gttggccagg ctggtcccga actcctgact tcctcggcct cccaaagtgt
     1741 tgggattaca ggcatgggcc actatgcctg gccagttgtt agatttccat ggatttgtag
     1801 tttccaaagt ttctcgttat tgatttctac ttttcttcca ttgtggtctg agaaggtact
     1861 tgatatga
//
