LOCUS       NP_001073270             461 aa            linear   PRI 30-APR-2025
DEFINITION  ribitol-5-phosphate transferase FKTN isoform a [Homo sapiens].
ACCESSION   NP_001073270
VERSION     NP_001073270.1
DBSOURCE    REFSEQ: accession NM_001079802.2
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  (residues 1 to 461)
  AUTHORS   Li,M., Fu,H., Li,J., Meng,D., Zhang,Q. and Fei,D.
  TITLE     Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by
            prenatal whole-exome sequencing in three fetuses with congenital
            hydrocephalus
  JOURNAL   J Obstet Gynaecol Res 48 (10), 2624-2629 (2022)
   PUBMED   35843586
  REMARK    GeneRIF: Compound variants of FKTN, POMGNT1, and LAMB1 gene
            identified by prenatal whole-exome sequencing in three fetuses with
            congenital hydrocephalus.
REFERENCE   2  (residues 1 to 461)
  AUTHORS   Okamura,Y., Yamamoto,T., Tsukui,R., Kato,Y. and Shibata,N.
  TITLE     Fukutin Protein Participates in Cell Proliferation by Enhancing
            Cyclin D1 Expression through Binding to the Transcription Factor
            Activator Protein-1: An In Vitro Study
  JOURNAL   Int J Mol Sci 22 (22), 12153 (2021)
   PUBMED   34830034
  REMARK    GeneRIF: Fukutin Protein Participates in Cell Proliferation by
            Enhancing Cyclin D1 Expression through Binding to the Transcription
            Factor Activator Protein-1: An In Vitro Study.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 461)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (residues 1 to 461)
  AUTHORS   Kobayashi,K., Nakahori,Y., Miyake,M., Matsumura,K., Kondo-Iida,E.,
            Nomura,Y., Segawa,M., Yoshioka,M., Saito,K., Osawa,M., Hamano,K.,
            Sakakihara,Y., Nonaka,I., Nakagome,Y., Kanazawa,I., Nakamura,Y.,
            Tokunaga,K. and Toda,T.
  TITLE     An ancient retrotransposal insertion causes Fukuyama-type
            congenital muscular dystrophy
  JOURNAL   Nature 394 (6691), 388-392 (1998)
   PUBMED   9690476
REFERENCE   5  (residues 1 to 461)
  AUTHORS   Miyake,M., Nakahori,Y., Matsushita,I., Kobayashi,K., Mizuno,K.,
            Hirai,M., Kanazawa,I., Nakagome,Y., Tokunaga,K. and Toda,T.
  TITLE     YAC and cosmid contigs encompassing the Fukuyama-type congenital
            muscular dystrophy (FCMD) candidate region on 9q31
  JOURNAL   Genomics 40 (2), 284-293 (1997)
   PUBMED   9119396
REFERENCE   6  (residues 1 to 461)
  AUTHORS   Toda,T., Segawa,M., Nomura,Y., Nonaka,I., Masuda,K., Ishihara,T.,
            Sakai,M., Tomita,I., Origuchi,Y., Suzuki M [corrected to Sakai,M.].
            et al.
  TITLE     Localization of a gene for Fukuyama type congenital muscular
            dystrophy to chromosome 9q31-33
  JOURNAL   Nat Genet 5 (3), 283-286 (1993)
   PUBMED   8275093
  REMARK    Erratum:[Nat Genet 1994 May;7(1):113]
REFERENCE   7  (residues 1 to 461)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle 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   20301582
REFERENCE   8  (residues 1 to 461)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   9  (residues 1 to 461)
  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
REFERENCE   10 (residues 1 to 461)
  AUTHORS   Saito,K.
  TITLE     Fukuyama Congenital Muscular Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301385
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL601876.1, DA917113.1,
            BC117699.1 and AL158070.11.
            
            Summary: The protein encoded by this gene is a putative
            transmembrane protein that is localized to the cis-Golgi
            compartment, where it may be involved in the glycosylation of
            alpha-dystroglycan in skeletal muscle. The encoded protein is
            thought to be a glycosyltransferase and could play a role in brain
            development. Defects in this gene are a cause of Fukuyama-type
            congenital muscular dystrophy (FCMD), Walker-Warburg syndrome
            (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated
            cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Nov
            2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer protein (a). Variants 1, 2 and 4
            encode the same isoform (a).
            
            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 :: BC058842.1, DRR138518.369574.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357998.10/ ENSP00000350687.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..461
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.2"
     Protein         1..461
                     /product="ribitol-5-phosphate transferase FKTN isoform a"
                     /note="Fukuyama type congenital muscular dystrophy
                     protein; patient fukutin; ribitol-5-phosphate transferase;
                     ribitol-5-phosphate transferase FKTN"
                     /calculated_mol_wt=53593
     Region          1..278
                     /region_name="FKTN_N"
                     /note="Fukutin N-terminal; pfam19737"
                     /db_xref="CDD:466166"
     Region          6..27
                     /region_name="Required and sufficient for interaction with
                     POMGNT1. /evidence=ECO:0000269|PubMed:17034757"
                     /note="propagated from UniProtKB/Swiss-Prot (O75072.2)"
     Site            8..28
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (O75072.2)"
     Site            92
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (O75072.2)"
     Region          289..>327
                     /region_name="LicD"
                     /note="LicD family; cl01378"
                     /db_xref="CDD:470175"
     CDS             1..461
                     /gene="FKTN"
                     /gene_synonym="CMD1X; FCMD; LGMD2M; LGMDR13; MDDGA4;
                     MDDGB4; MDDGC4"
                     /coded_by="NM_001079802.2:216..1601"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS6766.1"
                     /db_xref="GeneID:2218"
                     /db_xref="HGNC:HGNC:3622"
                     /db_xref="MIM:607440"
ORIGIN      
        1 msrinknvvl alltltssaf llfqlyyykh ylstkngagl skskgsrigf dstqwravkk
       61 fimltsnqnv pvflidplil elinknfeqv kntshgstsq ckffcvprdf tafalqyhlw
      121 kneegwfria enmgfqclki eskdprldgi dslsgteipl hyicklatha ihlvvfhers
      181 gnylwhghlr lkehidrkfv pfrklqfgry pgafdrpelq qvtvdglevl ipkdpmhfve
      241 evphsrfiec rykearaffq qylddntvea vafrksakel lqlaaktlnk lgvpfwlssg
      301 tclgwyrqcn iipyskdvdl gifiqdyksd iilafqdagl plkhkfgkve dslelsfqgk
      361 ddvkldvfff yeetdhmwng gtqaktgkkf kylfpkftlc wtefvdmkvh vpcetleyie
      421 anygktwkip vktwdwkrsp pnvqpngiwp isewdeviql y
//
