LOCUS       NM_138370               2490 bp    mRNA    linear   PRI 13-MAY-2024
DEFINITION  Homo sapiens protein kinase domain containing, cytoplasmic (PKDCC),
            mRNA.
ACCESSION   NM_138370 XM_038576
VERSION     NM_138370.3
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 2490)
  AUTHORS   Jung,J. and Wu,Q.
  TITLE     Identification of bone mineral density associated genes with shared
            genetic architectures across multiple tissues: Functional insights
            for EPDR1, PKDCC, and SPTBN1
  JOURNAL   PLoS One 19 (4), e0300535 (2024)
   PUBMED   38683846
  REMARK    GeneRIF: Identification of bone mineral density associated genes
            with shared genetic architectures across multiple tissues:
            Functional insights for EPDR1, PKDCC, and SPTBN1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2490)
  AUTHORS   Mohammed,J., Arora,N., Matthews,H.S., Hansen,K., Bader,M.,
            Walsh,S., Shaffer,J.R., Weinberg,S.M., Swigut,T., Claes,P.,
            Selleri,L. and Wysocka,J.
  TITLE     A common cis-regulatory variant impacts normal-range and
            disease-associated human facial shape through regulation of PKDCC
            during chondrogenesis
  JOURNAL   Elife 13, e82564 (2024)
   PUBMED   38483448
  REMARK    GeneRIF: A common cis-regulatory variant impacts normal-range and
            disease-associated human facial shape through regulation of PKDCC
            during chondrogenesis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2490)
  AUTHORS   Yan,L., Cao,J., Zhang,Y., Liu,Y., Zou,J., Lou,B., Zhuang,D. and
            Li,H.
  TITLE     Prenatal diagnosis to identify compound heterozygous variants in
            PKDCC that causes rhizomelic limb shortening with dysmorphic
            features in a fetus from China
  JOURNAL   BMC Med Genomics 16 (1), 190 (2023)
   PUBMED   37592254
  REMARK    GeneRIF: Prenatal diagnosis to identify compound heterozygous
            variants in PKDCC that causes rhizomelic limb shortening with
            dysmorphic features in a fetus from China.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2490)
  AUTHORS   Pagnamenta,A.T., Belles,R.S., Salbert,B.A., Wentzensen,I.M.,
            Guillen Sacoto,M.J., Santos,F.J.R., Caffo,A., Ferla,M.,
            Banos-Pinero,B., Pawliczak,K., Makvand,M., Najmabadi,H.,
            Maroofian,R., Lester,T., Yanez-Felix,A.L., Villarroel-Cortes,C.E.,
            Xia,F., Al Fayez,K., Al Hashem,A., Shears,D., Irving,M.,
            Offiah,A.C., Kariminejad,A. and Taylor,J.C.
  CONSRTM   Genomics England Research Consortium
  TITLE     The prevalence and phenotypic range associated with biallelic PKDCC
            variants
  JOURNAL   Clin Genet 104 (1), 121-126 (2023)
   PUBMED   36896672
  REMARK    GeneRIF: The prevalence and phenotypic range associated with
            biallelic PKDCC variants.
REFERENCE   5  (bases 1 to 2490)
  AUTHORS   Revollo,L., Merrill-Skoloff,G., De Ceunynck,K., Dilks,J.R., Guo,S.,
            Bordoli,M.R., Peters,C.G., Noetzli,L., Ionescu,A., Rosen,V.,
            Italiano,J.E., Whitman,M. and Flaumenhaft,R.
  TITLE     The secreted tyrosine kinase VLK is essential for normal platelet
            activation and thrombus formation
  JOURNAL   Blood 139 (1), 104-117 (2022)
   PUBMED   34329392
  REMARK    GeneRIF: The secreted tyrosine kinase VLK is essential for normal
            platelet activation and thrombus formation.
REFERENCE   6  (bases 1 to 2490)
  AUTHORS   Castro-Giner,F., Bustamante,M., Ramon Gonzalez,J., Kogevinas,M.,
            Jarvis,D., Heinrich,J., Anto,J.M., Wjst,M., Estivill,X. and de
            Cid,R.
  TITLE     A pooling-based genome-wide analysis identifies new potential
            candidate genes for atopy in the European Community Respiratory
            Health Survey (ECRHS)
  JOURNAL   BMC Med Genet 10, 128 (2009)
   PUBMED   19961619
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2490)
  AUTHORS   Kinoshita,M., Era,T., Jakt,L.M. and Nishikawa,S.
  TITLE     The novel protein kinase Vlk is essential for stromal function of
            mesenchymal cells
  JOURNAL   Development 136 (12), 2069-2079 (2009)
   PUBMED   19465597
REFERENCE   8  (bases 1 to 2490)
  AUTHORS   Imuta,Y., Nishioka,N., Kiyonari,H. and Sasaki,H.
  TITLE     Short limbs, cleft palate, and delayed formation of flat
            proliferative chondrocytes in mice with targeted disruption of a
            putative protein kinase gene, Pkdcc (AW548124)
  JOURNAL   Dev Dyn 238 (1), 210-222 (2009)
   PUBMED   19097194
REFERENCE   9  (bases 1 to 2490)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10 (bases 1 to 2490)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB231841.1, DB457034.1, BM738316.1, AC013480.12, CF131963.1,
            BC110513.1 and BC062988.1.
            
            On Nov 23, 2018 this sequence version replaced NM_138370.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC094697.1, ERR279870.3053.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000294964.6/ ENSP00000294964.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DB231841.1         1-24
            25-84               DB457034.1         25-84
            85-460              BM738316.1         80-455
            461-503             DB457034.1         461-503
            504-504             AC013480.12        105102-105102
            505-563             CF131963.1         1-59
            564-1795            BC110513.1         1-1232
            1796-2490           BC062988.1         751-1445
FEATURES             Location/Qualifiers
     source          1..2490
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..2490
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /note="protein kinase domain containing, cytoplasmic"
                     /db_xref="GeneID:91461"
                     /db_xref="HGNC:HGNC:25123"
                     /db_xref="MIM:614150"
     exon            1..818
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /inference="alignment:Splign:2.1.0"
     CDS             180..1661
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /EC_number="2.7.10.2"
                     /note="vertebrate lonesome kinase; sugen kinase 493;
                     protein kinase domain-containing protein, cytoplasmic;
                     protein kinase-like protein SgK493; protein kinase domain
                     containing, cytoplasmic homolog; extracellular
                     tyrosine-protein kinase PKDCC"
                     /codon_start=1
                     /product="extracellular tyrosine-protein kinase PKDCC
                     precursor"
                     /protein_id="NP_612379.2"
                     /db_xref="CCDS:CCDS33186.2"
                     /db_xref="GeneID:91461"
                     /db_xref="HGNC:HGNC:25123"
                     /db_xref="MIM:614150"
                     /translation="MRRRRAAVAAGFCASFLLGSVLNVLFAPGSEPPRPGQSPEPSPA
                     PGPGRRGGRGELARQIRARYEEVQRYSRGGPGPGAGRPERRRLMDLAPGGPGLPRPRP
                     PWARPLSDGAPGWPPAPGPGSPGPGPRLGCAALRNVSGAQYMGSGYTKAVYRVRLPGG
                     AAVALKAVDFSGHDLGSCVREFGVRRGCYRLAAHKLLKEMVLLERLRHPNVLQLYGYC
                     YQDSEDIPDTLTTITELGAPVEMIQLLQTSWEDRFRICLSLGRLLHHLAHSPLGSVTL
                     LDFRPRQFVLVDGELKVTDLDDARVEETPCAGSTDCILEFPARNFTLPCSAQGWCEGM
                     NEKRNLYNAYRFFFTYLLPHSAPPSLRPLLDSIVNATGELAWGVDETLAQLEKVLHLY
                     RSGQYLQNSTASSSTEYQCIPDSTIPQEDYRCWPSYHHGSCLLSVFNLAEAVDVCESH
                     AQCRAFVVTNQTTWTGRQLVFFKTGWSQVVPDPNKTTYVKASG"
     exon            819..941
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1213
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /inference="alignment:Splign:2.1.0"
     exon            1214..1293
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1401
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1575
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..2490
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2454..2459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /note="hexamer: AATAAA"
     regulatory      2467..2472
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /note="hexamer: AATAAA"
     polyA_site      2473
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
     polyA_site      2490
                     /gene="PKDCC"
                     /gene_synonym="RLSDF; SGK493; Vlk"
                     /note="major polyA site"
ORIGIN      
        1 aggcaagtgt caggccgatg tgtcgcccgc gaggggccgg ggtcggggcc gccggggcca
       61 tgcgcgcggg ctgggcaggg ggccggcggg gcgcagagcg gagccgcctc ggagcctgag
      121 ccgcccgggg ccggggccgg ggagccgcgc ggggccggcc ggccgggggg aggggagcga
      181 tgcggcgccg gcgggcggca gtggccgcgg gtttctgcgc ctccttcctg ctgggctccg
      241 tcctcaacgt gctcttcgct ccgggctcgg agcctccgag gccaggccag tcccctgagc
      301 cttcgccggc cccgggtccg ggccgtcgcg ggggccgcgg ggagctggcc cggcagatcc
      361 gggcgcgcta cgaggaggtg cagcgctatt cccgcggggg ccccgggccc ggggcgggcc
      421 ggccggagcg gcggcgcctg atggacctgg ctccgggcgg gcccggcctg ccgcgccccc
      481 ggcccccttg ggcccggccc ctgtccgacg gcgccccagg ctggcccccg gctcccggcc
      541 caggctcccc cggcccgggc ccgcgcctgg gctgcgccgc gcttcgcaac gtgtccggcg
      601 cgcagtacat gggctcaggc tacaccaagg ccgtgtaccg ggtccgcctg cccggcggtg
      661 ccgcggtggc gctcaaggcg gtggacttta gcggccacga tctgggcagc tgcgtgcgcg
      721 agttcggggt acggaggggc tgctatcggc tggcggccca caagctgctt aaggagatgg
      781 tgctgctgga gcggctgcgg caccccaacg tgctgcagct ctatggctac tgctaccagg
      841 acagcgagga catcccagac accctgacca ccatcacgga gctgggcgcc cctgtagaaa
      901 tgatccagct gctgcaaact tcctgggagg atcgattccg aatctgcctg agcctgggcc
      961 gcctcctcca ccacctggcc cactccccac tgggctccgt cactctgctg gacttccgcc
     1021 ctcggcagtt tgtgctggtg gatggggagc tcaaagtgac ggacctggat gacgcacgtg
     1081 tggaggagac gccgtgtgca ggcagcaccg actgcatact cgagtttccg gccaggaact
     1141 tcaccctgcc ctgctcagcc cagggctggt gcgagggcat gaacgagaag cggaacctct
     1201 ataatgccta caggtttttc ttcacatacc tcctgcctca cagtgccccg ccttcactgc
     1261 gtcctctgct ggacagcatc gtcaacgcca caggagagct cgcctggggg gtggacgaga
     1321 ccctggccca gctggagaag gtgctgcacc tgtaccggag cgggcagtat ctgcagaact
     1381 ccacggcaag cagcagtacc gagtaccagt gtatcccaga cagcaccatc ccccaggaag
     1441 actaccgctg ctggccatcc taccaccacg ggagctgcct cctttcagtg ttcaacctgg
     1501 ctgaggctgt ggatgtctgt gagagccatg cccagtgtcg ggcctttgtg gtcaccaacc
     1561 agaccacctg gacaggtcgg cagctggtct ttttcaagac tggatggagc caagtggtcc
     1621 ctgatcccaa caagaccaca tatgtgaagg cctctggctg acctatctga gggctcggct
     1681 gaccagctga ctatcctcag cagctgggct tgcctgtgga gggagtgact tgcactggca
     1741 gcactgcatg tcacctggga acccctgcag acaaagctaa catcccagac agacagatgt
     1801 gaccaggaca aacgtgcaat aatgccaaat gttaaaatgt gagtttacca gcctagctat
     1861 gggactgctg gctcctagtc caggaatcat gggggtatga ctgcctctcc aaccctgtgg
     1921 gctgtaagca agctcaggct agtctcccca ctgggggctg tgcccctccc tgggacggtt
     1981 ccgtgggcag ccccatcact gtgttcaata gtgtgagaat gtagctaaag cccctgctgc
     2041 tgctgctgca catgccacag caggcggtgg gggctgcgtg gggacaatcc atcgtggagt
     2101 gttctctcag cttaggtctg gacaggagac ttggcgggag atgctccagg atgtgggtga
     2161 ttctgtacct ggggaggcta tctctgacct cccgacaggg gacactccca ggccagccca
     2221 ggggtcaggg gcagaggtgc acacctcagc atgagccaag actggggtca gggagcaggt
     2281 gtggtttgag ccaggacctg gggcgggggt ggggccgggg cctttctgcc tcatttgctt
     2341 tcaatgaaag cctcaaagca gccaaaacca ggctttcccc cttcctcgag tttgaatatc
     2401 cagaatcttt tgtacttctt gttggttaaa ttgtttattt ttgtaaaaaa taaaataaaa
     2461 ttagttaata aaatgatgtt tcacagcaaa
//
