LOCUS       NM_021083               5174 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens X-linked Kx blood group antigen, Kell and VPS13A
            binding protein (XK), mRNA.
ACCESSION   NM_021083
VERSION     NM_021083.4
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 5174)
  AUTHORS   Yu,H., Li,L., Li,X. and Liu,H.
  TITLE     Clinical Features and Novel Pathogenic Variants of Chinese Patients
            With McLeod Syndrome and Chorea-Acanthocytosis
  JOURNAL   Mol Genet Genomic Med 12 (9), e70015 (2024)
   PUBMED   39324427
  REMARK    GeneRIF: Clinical Features and Novel Pathogenic Variants of Chinese
            Patients With McLeod Syndrome and Chorea-Acanthocytosis.
REFERENCE   2  (bases 1 to 5174)
  AUTHORS   Walker,R.H., Danek,A., Uttner,I., Offner,R., Reid,M. and Lee,S.
  TITLE     McLeod phenotype without the McLeod syndrome
  JOURNAL   Transfusion 47 (2), 299-305 (2007)
   PUBMED   17302777
REFERENCE   3  (bases 1 to 5174)
  AUTHORS   Jung,H.H., Hergersberg,M., Vogt,M., Pahnke,J., Treyer,V.,
            Rothlisberger,B., Kollias,S.S., Russo,D. and Frey,B.M.
  TITLE     McLeod phenotype associated with a XK missense mutation without
            hematologic, neuromuscular, or cerebral involvement
  JOURNAL   Transfusion 43 (7), 928-938 (2003)
   PUBMED   12823753
REFERENCE   4  (bases 1 to 5174)
  AUTHORS   Russo,D., Redman,C. and Lee,S.
  TITLE     Association of XK and Kell blood group proteins
  JOURNAL   J Biol Chem 273 (22), 13950-13956 (1998)
   PUBMED   9593744
REFERENCE   5  (bases 1 to 5174)
  AUTHORS   Ho,M., Chelly,J., Carter,N., Danek,A., Crocker,P. and Monaco,A.P.
  TITLE     Isolation of the gene for McLeod syndrome that encodes a novel
            membrane transport protein
  JOURNAL   Cell 77 (6), 869-880 (1994)
   PUBMED   8004674
REFERENCE   6  (bases 1 to 5174)
  AUTHORS   Jung,H.H., Danek,A., Walker,R.H., Frey,B.M. and Peikert,K.
  TITLE     McLeod Neuroacanthocytosis Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301528
REFERENCE   7  (bases 1 to 5174)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   8  (bases 1 to 5174)
  AUTHORS   Bertelson,C.J., Pogo,A.O., Chaudhuri,A., Marsh,W.L., Redman,C.M.,
            Banerjee,D., Symmans,W.A., Simon,T., Frey,D. and Kunkel,L.M.
  TITLE     Localization of the McLeod locus (XK) within Xp21 by deletion
            analysis
  JOURNAL   Am J Hum Genet 42 (5), 703-711 (1988)
   PUBMED   3358422
REFERENCE   9  (bases 1 to 5174)
  AUTHORS   Wimer,B.M., Marsh,W.L., Taswell,H.F. and Galey,W.R.
  TITLE     Haematological changes associated with the McLeod phenotype of the
            Kell blood group system
  JOURNAL   Br J Haematol 36 (2), 219-224 (1977)
   PUBMED   871435
REFERENCE   10 (bases 1 to 5174)
  AUTHORS   Marsh,W.L., Oyen,R., Nichols,M.E. and Allen,F.H. Jr.
  TITLE     Chronic granulomatous disease and the Kell blood groups
  JOURNAL   Br J Haematol 29 (2), 247-262 (1975)
   PUBMED   1191546
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY534238.1 and Z32684.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 11, 2018 this sequence version replaced NM_021083.3.
            
            Summary: This locus controls the synthesis of the Kell blood group
            'precursor substance' (Kx). Mutations in this gene have been
            associated with McLeod syndrome, an X-linked, recessive disorder
            characterized by abnormalities in the neuromuscular and
            hematopoietic systems. The encoded protein has structural
            characteristics of prokaryotic and eukaryotic membrane transport
            proteins. [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 :: Z32684.2, SRR1660803.195987.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378616.5/ ENSP00000367879.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AY534238.1         36-124
            90-4222             Z32684.2           1-4133
            4223-5174           Z32684.2           4141-5092
FEATURES             Location/Qualifiers
     source          1..5174
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.1"
     gene            1..5174
                     /gene="XK"
                     /gene_synonym="KX; NA; NAC; X1k; XKR1"
                     /note="X-linked Kx blood group antigen, Kell and VPS13A
                     binding protein"
                     /db_xref="GeneID:7504"
                     /db_xref="HGNC:HGNC:12811"
                     /db_xref="MIM:314850"
     exon            1..416
                     /gene="XK"
                     /gene_synonym="KX; NA; NAC; X1k; XKR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             172..1506
                     /gene="XK"
                     /gene_synonym="KX; NA; NAC; X1k; XKR1"
                     /note="XK, Kell blood group complex subunit (McLeod
                     syndrome); Kell blood group precursor (McLeod phenotype);
                     Kx antigen; XK-related protein 1; membrane transport
                     protein XK; kell complex 37 kDa component; Kx blood group
                     antigen"
                     /codon_start=1
                     /product="endoplasmic reticulum membrane adapter protein
                     XK"
                     /protein_id="NP_066569.1"
                     /db_xref="CCDS:CCDS14241.1"
                     /db_xref="GeneID:7504"
                     /db_xref="HGNC:HGNC:12811"
                     /db_xref="MIM:314850"
                     /translation="MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFS
                     LLPCALVQLTLLFVHRDLSRDRPLVLLLHLLQLGPLFRCFEVFCIYFQSGNNEEPYVS
                     ITKKRQMPKNGLSEEIEKEVGQAEGKLITHRSAFSRASVIQAFLGSAPQLTLQLYISV
                     MQQDVTVGRSLLMTISLLSIVYGALRCNILAIKIKYDEYEVKVKPLAYVCIFLWRSFE
                     IATRVVVLVLFTSVLKTWVVVIILINFFSFFLYPWILFWCSGSPFPENIEKALSRVGT
                     TIVLCFLTLLYTGINMFCWSAVQLKIDSPDLISKSHNWYQLLVYYMIRFIENAILLLL
                     WYLFKTDIYMYVCAPLLVLQLLIGYCTAILFMLVFYQFFHPCKKLFSSSVSEGFQRWL
                     RCFCWACRQQKPCEPIGKEDLQSSRDRDETPSSSKTSPEPGQFLNAEDLCSA"
     exon            417..679
                     /gene="XK"
                     /gene_synonym="KX; NA; NAC; X1k; XKR1"
                     /inference="alignment:Splign:2.1.0"
     exon            680..5174
                     /gene="XK"
                     /gene_synonym="KX; NA; NAC; X1k; XKR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5145..5150
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XK"
                     /gene_synonym="KX; NA; NAC; X1k; XKR1"
                     /note="hexamer: AATAAA"
     polyA_site      5166
                     /gene="XK"
                     /gene_synonym="KX; NA; NAC; X1k; XKR1"
                     /note="major polyA site"
ORIGIN      
        1 agagcccagg ccggtcggcc gggcccgcgt gccctcggcg ggctgcgcag agcgcgggag
       61 cggtttgggg ctgggcatgc tgggagcccc tcgggcaacg gccgccgccg ccacagccac
      121 acagccgccg ccactgcgtc cgtccccggt gagcgccgct gacgcgcgga gatgaaattc
      181 ccggcctcgg tgctggcgtc cgtgttcctg ttcgtggccg agacaacggc ggcgctcagc
      241 ctgagcagca cctaccgctc gggcggggac cgcatgtggc aggcgctgac gttgcttttc
      301 tcgctactgc cttgcgcgct cgtgcagctc acgcttctct tcgtacaccg cgacctcagc
      361 cgcgaccgcc cgctcgtact gctgctgcac ctgctgcaac ttgggcccct tttcaggtgt
      421 tttgaagtct tctgcatcta ctttcagtca ggcaacaatg aagagcctta tgtcagtatc
      481 accaagaaga ggcaaatgcc aaaaaatggc ctctcagagg agattgagaa ggaggtgggc
      541 caggcagaag gcaaactaat cacccaccga tcagcgttca gccgggcgtc ggtgatccag
      601 gctttcttgg gctcagcccc ccagctgacc ctacagctgt acataagtgt catgcagcag
      661 gacgtcactg ttggaagaag tctcctcatg accatatccc tgttgtccat tgtgtatgga
      721 gccttgcgct gcaacatcct agccatcaaa atcaagtacg atgagtatga agtcaaagtg
      781 aagcctctgg cctatgtctg tatcttcctg tggaggagct ttgagattgc cactcgagtt
      841 gtagtcctgg tcctctttac ctccgtcctg aagacctggg tggtggttat aatactcatc
      901 aacttcttca gtttcttctt gtacccctgg atcctcttct ggtgcagtgg ttccccattc
      961 cctgagaaca tagagaaggc cctcagtaga gtgggcacca ccattgtact atgctttcta
     1021 actttactct atactggtat caacatgttc tgctggtctg ctgtacagct gaaaattgac
     1081 agccctgacc tcatcagcaa gtcccataat tggtaccagc tactggtgta ttacatgata
     1141 agattcatcg agaatgccat cctcctcctc ctgtggtatc ttttcaagac tgacatctat
     1201 atgtatgtgt gcgcacctct gttggtcctg cagctgctca ttgggtactg cacagccatt
     1261 ctcttcatgc ttgtattcta tcagttcttc cacccttgca aaaagctctt ttcttccagt
     1321 gtttctgaag gctttcagag gtggctcagg tgtttttgct gggcctgcag gcagcaaaaa
     1381 ccctgtgagc cgataggaaa ggaagatcta cagtcatcca gagatagaga tgagacacct
     1441 tctagcagta aaacaagtcc tgagcctggt cagttcttga atgctgaaga tctctgctct
     1501 gcttaatggg acccaaggtc tcagagcaca ggcatattat tttctgggtt tgatactcgt
     1561 tattcataca aataatgagc cctacacagg gaacaaggca ggaagttagc tgttaactcc
     1621 ttgtgagctg cttctcttta tagagctctt gggtatgtag aactgtatgg gaagaagcca
     1681 ggaaaacctc tgagtgttga aggggcaacc caaggcatca cagttcacag gtaaccatgt
     1741 tgtgttcttc taggcattac tggccttttc actgacaagt tacccctgaa atctgagttg
     1801 tactggttag attcattagg ttgaatgagg agaggggctt acctgttctc tagttttcca
     1861 gactgctggt ttgggtaacc tgaagtttta tgatccctga acatagtttt cacccaagag
     1921 ctgtcctggt gaccaaaaaa gattactagg gttttgccat cagcaacatc attcctgtca
     1981 gagctttcag ggagggctgt tcaagtttgg tttttgaata gacagaggtt tcattttcat
     2041 ctcattaggg cttttttgta catagccaac tgtagccacc ctggcatgct gtctctaatt
     2101 gattcaaggg cctagatttg gagactttgt tccttagcat ccatggatgc agaaatgagt
     2161 gataaatttg gccatgaaag ccctggaatt ttaggaaagt tgtgattctt tgatatgttg
     2221 atgaaattct ggatcaggag gggtgttaaa acatcaaaat gatggcgact tgtataagta
     2281 gaattcttac catcttactc ctgcctcccc attccttgcc tgtcaggacc attttagaag
     2341 agttaccttg gttaacttaa gggtttttta gaaaacccca cagaaatctc tcacccagtt
     2401 caggtgtata gggaattttc attttcatta tttcaaggaa tagagttttc ctcactacca
     2461 cttgtaatta gagattgact tcagaaactt tttctaaatt ataaagacgg aatgaccaga
     2521 aaatttttgt ctttcatgga atgcaatttg acttggcata attgtgagtt aatttgataa
     2581 agatctccag ttgtatcctc tgacaccctt taatgttcta tataattttt cctttaatcg
     2641 gagaccctat ttgtttcatt aaagaggatt gggtagcata tcctcaatta tcttggaaaa
     2701 atgcgtagat ctagtgccat tatttctacc attaaaatct tgaaagcgaa atacttgaaa
     2761 agaggtgacc ataaagatca caccaattta gaatgaatat taaagtctga gaaatttaca
     2821 aaagggactc tatggactcg attttaccat atggaatagg gatccacttc tctgttaacc
     2881 tacaaaacgt atttatctgg ccattgcact tcggataatt ttcattttta attcctcttg
     2941 gtgtcaaatt tttaagtaat ttcatgcaca caggagaaaa tgcaatttga taatcagttt
     3001 ccactacatt cggaggtcaa gaaagcagta tatattcttt cacaaggcat ccatactgtt
     3061 taatatttat agagttcata gaaatacatc aataagctcc taaattatag agcctcaatt
     3121 ttggtttttc tcatttgaaa tgtttttgat ttatcaatat ttgtggttta actttgtggg
     3181 ggtgtccagg cagtagatca ttttttgtct atttttaacc aaataagaat aacactcaag
     3241 actatgttct ccatcccaac acatcactta ccacttgcac tattcttaat aggcctaaaa
     3301 tagtgagcat atataatcaa aataatactt catacaacat atacttccat gcactcttca
     3361 tgtaatcaca tatgtgcata gatacacaat cgtattacat aaaacaccct tgaaaatata
     3421 tgactttgaa taaaataaag ctaccatgtt aatacatcat tttttgtttc ttcctaatta
     3481 acaaaagggc tctataatga ttaggagagc tgtaaggcca ttctttagtc attccaagtg
     3541 tatatttgta tcacaccagt tacttgtgtt cattgacacc aaatattttc aagctttttg
     3601 tgagaaagag attcttgcct tgaggctctg cagtggcaaa tggtaggggc aatagcgctc
     3661 ccttttcacc tgaaatgcct tcagctcagg ccttgggagt gaggtgtggg agtagccacc
     3721 agcctcccac tgactaggca tgttaggaat tagacaagga tggagagact ggttttttcc
     3781 agccttggtt tggaagcttg tctcaaaaac cattacaaaa tcttaacctt caaatacatt
     3841 ctaaatcact ttaatttaga agataggtga gcaacttgag tgatcccaaa ccaaactaac
     3901 agtgctggtt tgtccgacac ccaaagccca cttcacacat ttataaggac agagatttgg
     3961 taactcattt gggtattttg tcagttttaa cccttaatat acaggtatcc cagctttggg
     4021 cacatgtatg tccattcact ttcaggaagg ggtgtcagta ctttctttct gtgtggtgaa
     4081 aacataagcc atggtgaact gataattttt gtttttaaat tatttatatt actgaattgg
     4141 caaaattaca gttcacactg cagagctagg ttgtcctatt ggcataaaac aaaccagcaa
     4201 cttttctcat gtgtttggag ttaaaatgtg tttttcagtt ataatttcaa tttttaaatt
     4261 tcttggtgct ttgtctaatt aattacatcc cataacttgt caggatagtt gctccaactg
     4321 aattgctatc atttggctgg atgggggtga agtatgtctt caaaatatat tgaagtaagt
     4381 tcatcaaaca tgtttagact tcctctcatt gctggagaca gcccagtgta gagattggca
     4441 cttccctgtc cagcactaca acttaattgc tctatgcctc agtttcccca taataccctt
     4501 ttccaaccta cctcacaagg ttatcagaaa gatcaaatta aataatagat gtgaaaatgc
     4561 tttgaaaatg tttttaagtg ctatgcatat ttatagagtt attatagtta ttcaaatcca
     4621 taagcaggtt atttttattt ttttactgtt tgaaaagaaa taagtagtgt cattcatatg
     4681 agttcctgag tggatatgcg aatctttggt cttctcgaca ggtgcccttt ctcttaccac
     4741 tagttgctta caaaaatagc acccaaacac atggcacttg gaagaaaaag acccactgaa
     4801 tctgagaaag tactttctgg tggcaaatga atttatcatt ttagtatagt tttcgataaa
     4861 ggatatagca acatcttttg ataattgtgc tttacaactt gaatgctgat tcaaggcatt
     4921 atttggatgt gagtttaatc ttttcagcct tgtaaatggg aaaatatata ttaaaattga
     4981 ttgtcaaata cagcatttct ttggaaacca ccttaaaaca ttagtgctat ggttatgagt
     5041 gtatgtgcca gtacttacca gtcaatgcat tgtggatatg agctttcgtt gactgcttct
     5101 ctgcagtcgt tgatgctaat aaatattgtc ctgtttcttc atataataaa ttaatttttc
     5161 aatttctcct tgta
//
