LOCUS       NM_005198               1474 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens choline kinase beta (CHKB), mRNA.
ACCESSION   NM_005198
VERSION     NM_005198.5
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 1474)
  AUTHORS   Kim,J.W., Rim,D., Ann,C.H. and Lee,S.H.
  TITLE     Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3
            genes in colon cancers
  JOURNAL   Pathol Res Pract 249, 154769 (2023)
   PUBMED   37634314
  REMARK    GeneRIF: Frameshift mutations of immunomodulatory BTN2A1, BTN2A2,
            and BTNL3 genes in colon cancers.
REFERENCE   2  (bases 1 to 1474)
  AUTHORS   Zemorshidi,F., Nafissi,S., Boostani,R., Karimiani,E.G.,
            Ashtiani,B.H., Karimzadeh,P., Miryounesi,M., Tonekaboni,S.H. and
            Nilipour,Y.
  TITLE     Megaconial congenital muscular dystrophy due to CHKB gene variants,
            the first report of thirteen Iranian patients
  JOURNAL   Neuromuscul Disord 33 (7), 589-595 (2023)
   PUBMED   37393748
  REMARK    GeneRIF: Megaconial congenital muscular dystrophy due to CHKB gene
            variants, the first report of thirteen Iranian patients.
REFERENCE   3  (bases 1 to 1474)
  AUTHORS   Wu,T., Zhang,C., He,F., Yang,L., Yin,F. and Peng,J.
  TITLE     Large heterozygous deletion and uniparental disomy masquerading as
            homozygosity in CHKB gene
  JOURNAL   Mol Genet Genomic Med 11 (7), e2162 (2023)
   PUBMED   36896673
  REMARK    GeneRIF: Large heterozygous deletion and uniparental disomy
            masquerading as homozygosity in CHKB gene.
REFERENCE   4  (bases 1 to 1474)
  AUTHORS   Bardhan,M., Polavarapu,K., Bevinahalli,N.N., Veeramani,P.K.,
            Anjanappa,R.M., Arunachal,G., Shingavi,L., Vengalil,S., Nashi,S.,
            Chawla,T., Nagabushana,D., Mohan,D., Horvath,R., Nishino,I. and
            Atchayaram,N.
  TITLE     Megaconial congenital muscular dystrophy secondary to novel CHKB
            mutations resemble atypical Rett syndrome
  JOURNAL   J Hum Genet 66 (8), 813-823 (2021)
   PUBMED   33712684
  REMARK    GeneRIF: Megaconial congenital muscular dystrophy secondary to
            novel CHKB mutations resemble atypical Rett syndrome.
            Erratum:[J Hum Genet. 2021 Aug;66(8):841. doi:
            10.1038/s10038-021-00920-2.. PMID: 33767318]
REFERENCE   5  (bases 1 to 1474)
  AUTHORS   Aoyama,C., Liao,H. and Ishidate,K.
  TITLE     Structure and function of choline kinase isoforms in mammalian
            cells
  JOURNAL   Prog Lipid Res 43 (3), 266-281 (2004)
   PUBMED   15003397
  REMARK    Review article
            Erratum:[Prog Lipid Res. 2004 Jul;43(4):381]
REFERENCE   6  (bases 1 to 1474)
  AUTHORS   Hirosawa,M., Nagase,T., Murahashi,Y., Kikuno,R. and Ohara,O.
  TITLE     Identification of novel transcribed sequences on human chromosome
            22 by expressed sequence tag mapping
  JOURNAL   DNA Res 8 (1), 1-9 (2001)
   PUBMED   11258795
REFERENCE   7  (bases 1 to 1474)
  AUTHORS   Yamazaki,N., Shinohara,Y., Kajimoto,K., Shindo,M. and Terada,H.
  TITLE     Novel expression of equivocal messages containing both regions of
            choline/ethanolamine kinase and muscle type carnitine
            palmitoyltransferase I
  JOURNAL   J Biol Chem 275 (41), 31739-31746 (2000)
   PUBMED   10918069
REFERENCE   8  (bases 1 to 1474)
  AUTHORS   Ishidate,K.
  TITLE     Choline/ethanolamine kinase from mammalian tissues
  JOURNAL   Biochim Biophys Acta 1348 (1-2), 70-78 (1997)
   PUBMED   9370318
  REMARK    Review article
REFERENCE   9  (bases 1 to 1474)
  AUTHORS   Chan,S.H.S. and Nishino,I.
  TITLE     CHKB-Related Muscular Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37011121
REFERENCE   10 (bases 1 to 1474)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB029886.1 and BE676287.1.
            
            On Nov 30, 2019 this sequence version replaced NM_005198.4.
            
            Summary: Choline kinase (CK) and ethanolamine kinase (EK) catalyze
            the phosphorylation of choline/ethanolamine to
            phosphocholine/phosphoethanolamine. This is the first enzyme in the
            biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all
            animal cells. The highly purified CKs from mammalian sources and
            their recombinant gene products have been shown to have EK activity
            also, indicating that both activities reside on the same protein.
            The choline kinase-like protein encoded by CHKL belongs to the
            choline/ethanolamine kinase family; however, its exact function is
            not known. Read-through transcripts are expressed from this locus
            that include exons from the downstream CPT1B locus. [provided by
            RefSeq, Jun 2009].
            
            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 :: AB029886.1, AL096780.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000406938.3/ ENSP00000384400.3
            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
            1-1473              AB029886.1         1-1473
            1474-1474           BE676287.1         25-25               c
FEATURES             Location/Qualifiers
     source          1..1474
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..1474
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /note="choline kinase beta"
                     /db_xref="GeneID:1120"
                     /db_xref="HGNC:HGNC:1938"
                     /db_xref="MIM:612395"
     exon            1..292
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1256
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /EC_number="2.7.1.32"
                     /EC_number="2.7.1.82"
                     /note="ethanolamine kinase beta; choline kinase-like
                     protein"
                     /codon_start=1
                     /product="choline/ethanolamine kinase"
                     /protein_id="NP_005189.2"
                     /db_xref="CCDS:CCDS14099.1"
                     /db_xref="GeneID:1120"
                     /db_xref="HGNC:HGNC:1938"
                     /db_xref="MIM:612395"
                     /translation="MAAEATAVAGSGAVGGCLAKDGLQQSKCPDTTPKRRRASSLSRD
                     AERRAYQWCREYLGGAWRRVQPEELRVYPVSGGLSNLLFRCSLPDHLPSVGEEPREVL
                     LRLYGAILQGVDSLVLESVMFAILAERSLGPQLYGVFPEGRLEQYIPSRPLKTQELRE
                     PVLSAAIATKMAQFHGMEMPFTKEPHWLFGTMERYLKQIQDLPPTGLPEMNLLEMYSL
                     KDEMGNLRKLLESTPSPVVFCHNDIQEGNILLLSEPENADSLMLVDFEYSSYNYRGFD
                     IGNHFCEWVYDYTHEEWPFYKARPTDYPTQEQQLHFIRHYLAEAKKGETLSQEEQRKL
                     EEDLLVEVSRYALASHFFWGLWSILQASMSTIEFGYLDYAQSRFQFYFQQKGQLTSVH
                     SSS"
     exon            293..401
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     exon            402..515
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     exon            516..649
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     exon            650..745
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     exon            746..804
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     exon            805..886
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     exon            887..995
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1099
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1181
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1474
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1452..1457
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /note="hexamer: AATAAA"
     polyA_site      1474
                     /gene="CHKB"
                     /gene_synonym="CHETK; CHKL; CK; CKB; CKEKB; EK; EKB;
                     MDCMC"
                     /note="major polyA site"
ORIGIN      
        1 ggaaggaacc gagcccgtcc gaagggagcg gagcgcagcc tggcctgggg cccggtcgag
       61 cccgcgccat ggcggccgag gcgacagctg tggccggaag cggggctgtt ggcggctgcc
      121 tggccaaaga cggcttgcag cagtctaagt gcccggacac taccccaaaa cggcggcgcg
      181 cctcgtcgct gtcgcgtgac gccgagcgcc gagcctacca atggtgccgg gagtacttgg
      241 gcggggcctg gcgccgagtg cagcccgagg agctgagggt ttaccccgtg agcggaggcc
      301 tcagcaacct gctcttccgc tgctcgctcc cggaccacct gcccagcgtt ggcgaggagc
      361 cccgggaggt gcttctgcgg ctgtacggag ccatcttgca gggcgtggac tccctggtgc
      421 tagaaagcgt gatgttcgcc atacttgcgg agcggtcgct ggggccccag ctgtacggag
      481 tcttcccaga gggccggctg gaacagtaca tcccaagtcg gccattgaaa actcaagagc
      541 ttcgagagcc agtgttgtca gcagccattg ccacgaagat ggcgcaattt catggcatgg
      601 agatgccttt caccaaggag ccccactggc tgtttgggac catggagcgg tacctaaaac
      661 agatccagga cctgccccca actggcctcc ctgagatgaa cctgctggag atgtacagcc
      721 tgaaggatga gatgggcaac ctcaggaagt tactagagtc taccccatcg ccagtcgtct
      781 tctgccacaa tgacatccag gaagggaaca tcttgctgct ctcagagcca gaaaatgctg
      841 acagcctcat gctggtggac ttcgagtaca gcagttataa ctataggggc tttgacattg
      901 ggaaccattt ttgtgagtgg gtttatgatt atactcacga ggaatggcct ttctacaaag
      961 caaggcccac agactacccc actcaagaac agcagttgca ttttattcgt cattacctgg
     1021 cagaggcaaa gaaaggtgag accctctccc aagaggagca gagaaaactg gaagaagatt
     1081 tgctggtaga agtcagtcgg tatgctctgg catcccattt cttctggggt ctgtggtcca
     1141 tcctccaggc atccatgtcc accatagaat ttggttactt ggactatgcc cagtctcggt
     1201 tccagttcta cttccagcag aaggggcagc tgaccagtgt ccactcctca tcctgactcc
     1261 accctcccac tccttggatt tctcctggag cctccagggc aggaccttgg agggaggaac
     1321 aacgagcaga aggccctggc gactgggctg agcccccaag tgaaactgag gttcaggaga
     1381 ccggcctgtt cctgagtttg agtaggtccc catggctggc aggccagagc cccgtgctgt
     1441 gtatgtaaca caataaacaa gcttcttctt ccca
//
