LOCUS       NM_000420               2494 bp    mRNA    linear   PRI 17-JUN-2024
DEFINITION  Homo sapiens Kell metallo-endopeptidase (Kell blood group) (KEL),
            mRNA.
ACCESSION   NM_000420
VERSION     NM_000420.3
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 2494)
  AUTHORS   Wu,P.C., McGowan,E.C., Lee,Y.Q., Ghosh,S., Hansson,J. and
            Olsson,M.L.
  TITLE     Epigenetic dissection of human blood group genes reveals regulatory
            elements and detailed characteristics of KEL and four other loci
  JOURNAL   Transfusion 64 (6), 1083-1096 (2024)
   PUBMED   38644556
  REMARK    GeneRIF: Epigenetic dissection of human blood group genes reveals
            regulatory elements and detailed characteristics of KEL and four
            other loci.
REFERENCE   2  (bases 1 to 2494)
  AUTHORS   Yearout,S., Smith,A., Keller,J. and Keller,M.A.
  TITLE     Novel KEL allele associated with loss of Kpb identified in a white
            blood donor
  JOURNAL   Immunohematology 38 (2), 51-54 (2022)
   PUBMED   35852066
  REMARK    GeneRIF: Novel KEL allele associated with loss of Kp(b) identified
            in a white blood donor.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2494)
  AUTHORS   Liu,W., Wu,Z., Yu,Y., Qiao,C., Zhu,H., Hong,M., Zhu,Y., Qian,S.,
            Chen,S., Wu,D., Li,J. and Jin,H.
  TITLE     Functional Evaluation of KEL as an Oncogenic Gene in the
            Progression of Acute Erythroleukemia
  JOURNAL   Oxid Med Cell Longev 2022, 5885342 (2022)
   PUBMED   35140839
  REMARK    GeneRIF: Functional Evaluation of KEL as an Oncogenic Gene in the
            Progression of Acute Erythroleukemia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2494)
  AUTHORS   Albasri,J., Alsuhaibani,O., Almarry,N., Ochoa-Garay,G.,
            Bensing,K.M., Biese,D., Knier,M. and Denomme,G.A.
  TITLE     Novel KEL*02N allele in Saudi Arabia encoding a Kell null (K0)
            phenotype
  JOURNAL   Transfusion 61 (7), E49-E50 (2021)
   PUBMED   34137046
  REMARK    GeneRIF: Novel KEL*02N allele in Saudi Arabia encoding a Kell null
            (K0 ) phenotype.
REFERENCE   5  (bases 1 to 2494)
  AUTHORS   Lee,S., Debnath,A.K. and Redman,C.M.
  TITLE     Active amino acids of the Kell blood group protein and model of the
            ectodomain based on the structure of neutral endopeptidase 24.11
  JOURNAL   Blood 102 (8), 3028-3034 (2003)
   PUBMED   12842980
  REMARK    GeneRIF: x-ray analysis of Kell blood group protein
REFERENCE   6  (bases 1 to 2494)
  AUTHORS   Lee,S., Wu,X., Reid,M. and Redman,C.
  TITLE     Molecular basis of the K:6,-7 [Js(a+b-)] phenotype in the Kell
            blood group system
  JOURNAL   Transfusion 35 (10), 822-825 (1995)
   PUBMED   7570911
REFERENCE   7  (bases 1 to 2494)
  AUTHORS   Khamlichi,S., Bailly,P., Blanchard,D., Goossens,D., Cartron,J.P.
            and Bertrand,O.
  TITLE     Purification and partial characterization of the erythrocyte Kx
            protein deficient in McLeod patients
  JOURNAL   Eur J Biochem 228 (3), 931-934 (1995)
   PUBMED   7737196
REFERENCE   8  (bases 1 to 2494)
  AUTHORS   Lee,S., Zambas,E.D., Marsh,W.L. and Redman,C.M.
  TITLE     The human Kell blood group gene maps to chromosome 7q33 and its
            expression is restricted to erythroid cells
  JOURNAL   Blood 81 (10), 2804-2809 (1993)
   PUBMED   7683930
REFERENCE   9  (bases 1 to 2494)
  AUTHORS   Lee,S., Zambas,E.D., Marsh,W.L. and Redman,C.M.
  TITLE     Molecular cloning and primary structure of Kell blood group protein
  JOURNAL   Proc Natl Acad Sci U S A 88 (14), 6353-6357 (1991)
   PUBMED   1712490
REFERENCE   10 (bases 1 to 2494)
  AUTHORS   Marsh,W.L. and Redman,C.M.
  TITLE     Recent developments in the Kell blood group system
  JOURNAL   Transfus Med Rev 1 (1), 4-20 (1987)
   PUBMED   2980265
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC003135.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000420.2.
            
            Summary: This gene encodes a type II transmembrane glycoprotein
            that is the highly polymorphic Kell blood group antigen. The Kell
            glycoprotein links via a single disulfide bond to the XK membrane
            protein that carries the Kx antigen. The encoded protein contains
            sequence and structural similarity to members of the neprilysin
            (M13) family of zinc endopeptidases. [provided by RefSeq, Jul
            2008].
            
            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 :: BC003135.1, SRR14038195.2778229.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355265.7/ ENSP00000347409.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2494              BC003135.1         54-2547
FEATURES             Location/Qualifiers
     source          1..2494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..2494
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="Kell metallo-endopeptidase (Kell blood group)"
                     /db_xref="GeneID:3792"
                     /db_xref="HGNC:HGNC:6308"
                     /db_xref="MIM:613883"
     exon            1..160
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..2356
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /EC_number="3.4.24.-"
                     /note="Kell glycoprotein; Kell blood group,
                     metallo-endopeptidase; bloodgroup KEL protein; Kell blood
                     group protein; Kell blood group antigen"
                     /codon_start=1
                     /product="kell blood group glycoprotein"
                     /protein_id="NP_000411.1"
                     /db_xref="CCDS:CCDS34766.1"
                     /db_xref="GeneID:3792"
                     /db_xref="HGNC:HGNC:6308"
                     /db_xref="MIM:613883"
                     /translation="MEGGDQSEEEPRERSQAGGMGTLWSQESTPEERLPVEGSRPWAV
                     ARRVLTAILILGLLLCFSVLLFYNFQNCGPRPCETSVCLDLRDHYLASGNTSVAPCTD
                     FFSFACGRAKETNNSFQELATKNKNRLRRILEVQNSWHPGSGEEKAFQFYNSCMDTLA
                     IEAAGTGPLRQVIEELGGWRISGKWTSLNFNRTLRLLMSQYGHFPFFRAYLGPHPASP
                     HTPVIQIDQPEFDVPLKQDQEQKIYAQIFREYLTYLNQLGTLLGGDPSKVQEHSSLSI
                     SITSRLFQFLRPLEQRRAQGKLFQMVTIDQLKEMAPAIDWLSCLQATFTPMSLSPSQS
                     LVVHDVEYLKNMSQLVEEMLLKQRDFLQSHMILGLVVTLSPALDSQFQEARRKLSQKL
                     RELTEQPPMPARPRWMKCVEETGTFFEPTLAALFVREAFGPSTRSAAMKLFTAIRDAL
                     ITRLRNLPWMNEETQNMAQDKVAQLQVEMGASEWALKPELARQEYNDIQLGSSFLQSV
                     LSCVRSLRARIVQSFLQPHPQHRWKVSPWDVNAYYSVSDHVVVFPAGLLQPPFFHPGY
                     PRAVNFGAAGSIMAHELLHIFYQLLLPGGCLACDNHALQEAHLCLKRHYAAFPLPSRT
                     SFNDSLTFLENAADVGGLAIALQAYSKRLLRHHGETVLPSLDLSPQQIFFRSYAQVMC
                     RKPSPQDSHDTHSPPHLRVHGPLSSTPAFARYFRCARGALLNPSSRCQLW"
     exon            161..238
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            239..380
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            381..557
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            558..682
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            683..829
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            830..892
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1081
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1230
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1360
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            1361..1471
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1570
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..1648
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1749
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            1750..1860
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            1861..1928
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2098
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            2099..2194
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     exon            2195..2494
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2458..2463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="hexamer: AATAAA"
     polyA_site      2494
                     /gene="KEL"
                     /gene_synonym="CD238; ECE3; Kell"
                     /note="major polyA site"
ORIGIN      
        1 agtcctgtgt gtctggggac aaggcgaaag agcagcagaa gtgccccttc tccaggatca
       61 aggaactggg gcggggggtg tttcctggac cccagtcctc cgaatcagct cctagagtgg
      121 aaccaggaag gattctggag ccacagaaga tagacagatg gaaggtgggg accaaagtga
      181 ggaagagccg agggaacgca gccaggcagg tggaatggga actctctgga gccaagagag
      241 cactccagaa gagaggctgc ccgtggaagg gagcaggcca tgggcagtgg ccaggcgggt
      301 gctgacagct atcctgattt tgggcctgct cctttgtttt tctgtgcttt tgttctacaa
      361 cttccagaac tgtggccctc gcccctgtga gacatctgtg tgtttggatc tccgggatca
      421 ttacctggcc tctgggaaca caagtgtggc cccctgcacc gacttcttca gctttgcctg
      481 tggaagggcc aaagagacca ataattcttt tcaggagctt gccacaaaga acaaaaaccg
      541 acttcggaga atactggagg tccagaattc ctggcaccca ggctctgggg aggagaaagc
      601 cttccagttc tacaactcct gcatggatac acttgccatt gaagctgcag ggactggtcc
      661 cctcagacaa gttattgagg agcttggagg ctggcgcatc tctggtaaat ggacttcctt
      721 aaactttaac cgaacgctga gacttctgat gagtcagtat ggccatttcc ctttcttcag
      781 agcctaccta ggacctcatc ctgcctctcc acacacacca gtcatccaga tagaccagcc
      841 agagtttgat gttcccctca agcaagatca agaacagaag atctatgccc agatctttcg
      901 ggaatacctg acttacctga atcagctggg aaccttgctg ggaggagacc caagcaaggt
      961 gcaagaacac tcttccttgt caatctccat cacttcacgg ctgttccagt ttctgaggcc
     1021 cctggagcag cggcgggcac agggcaagct cttccagatg gtcactatcg accagctcaa
     1081 ggaaatggcc cccgccatcg actggttgtc ctgcttgcaa gcgacattca caccgatgtc
     1141 cctgagccct tctcagtccc tcgtggtcca tgacgtggaa tatttgaaaa acatgtcaca
     1201 actggtggag gagatgctgc taaagcagag ggactttctg cagagccaca tgatcttagg
     1261 gctggtggtg accctttctc cagccctgga cagtcaattc caggaggcac gcagaaagct
     1321 cagccagaaa ctgcgggaac tgacagagca accacccatg cctgcccgcc cacgatggat
     1381 gaagtgcgtg gaggagacag gcacgttctt cgagcccacg ctggcggctt tgtttgttcg
     1441 tgaggccttt ggcccgagca cccgaagtgc tgccatgaaa ttattcactg cgatccggga
     1501 tgccctcatc actcgcctca gaaaccttcc ctggatgaat gaggagaccc agaacatggc
     1561 ccaggacaag gttgctcaac tgcaggtgga gatgggggct tcagaatggg ccctgaagcc
     1621 agagctggcc cgacaagaat acaacgatat acagcttgga tcgagcttcc tgcagtctgt
     1681 cctgagctgt gtccggtccc tccgagctag aattgtccag agcttcttgc agcctcaccc
     1741 ccaacacagg tggaaggtgt ccccttggga cgtcaatgct tactattcgg tatctgacca
     1801 tgtggtagtc tttccagctg gactcctcca acccccattc ttccaccctg gctatcccag
     1861 agccgtgaac tttggcgctg ctggcagcat catggcccac gagctgttgc acatcttcta
     1921 ccagctctta ctgcctgggg gctgcctcgc ctgtgacaac catgccctcc aggaagctca
     1981 cctgtgcctg aagcgccatt atgctgcctt tccattacct agcagaacct ccttcaatga
     2041 ctccctcaca ttcttagaga atgctgcaga cgttgggggg ctagccatcg cgctgcaggc
     2101 atacagcaag aggctgttac ggcaccatgg ggagactgtc ctgcccagcc tggacctcag
     2161 cccccagcag atcttctttc gaagctatgc ccaggtgatg tgtaggaagc ccagccccca
     2221 ggactctcac gacactcaca gccctccaca cctccgagtc cacgggcccc tcagcagcac
     2281 cccagccttt gccaggtatt tccgctgtgc acgtggtgct ctcttgaacc cctccagccg
     2341 ctgccagctc tggtaacttg gttaccaaag atgccacagc acagaaatat cgaccaacac
     2401 ctccctggtc acatccatgg aatcagagca agatttcctt tctgcttctg ttccaaaaat
     2461 aaaagctggc acttggcttc cgcttgtctc ttaa
//
