LOCUS       NM_015634               2462 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens kinesin family binding protein (KIFBP), mRNA.
ACCESSION   NM_015634
VERSION     NM_015634.4
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 2462)
  AUTHORS   Ooi,J.C.E., Azman,A., Chan,M.Y., Toh,E.S.Y., Seo,G.H., Kim,J.H.,
            Yakob,Y. and Chia,Y.K.
  TITLE     Progressive ataxia, ophthalmoparesis, and hypogonadotropic
            hypogonadism in a family with a novel variant in the KIFBP gene
  JOURNAL   Clin Genet 105 (2), 228-230 (2024)
   PUBMED   37903629
  REMARK    GeneRIF: Progressive ataxia, ophthalmoparesis, and hypogonadotropic
            hypogonadism in a family with a novel variant in the KIFBP gene.
REFERENCE   2  (bases 1 to 2462)
  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   3  (bases 1 to 2462)
  AUTHORS   Atherton,J., Hummel,J.J., Olieric,N., Locke,J., Pena,A.,
            Rosenfeld,S.S., Steinmetz,M.O., Hoogenraad,C.C. and Moores,C.A.
  TITLE     The mechanism of kinesin inhibition by kinesin-binding protein
  JOURNAL   Elife 9, e61481 (2020)
   PUBMED   33252036
  REMARK    GeneRIF: The mechanism of kinesin inhibition by kinesin-binding
            protein.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2462)
  AUTHORS   MacKenzie,K.C., de Graaf,B.M., Syrimis,A., Zhao,Y., Brosens,E.,
            Mancini,G.M.S., Schot,R., Halley,D., Wilke,M., Vollo,A.,
            Flinter,F., Green,A., Mansour,S., Pilch,J., Stark,Z.,
            Zamba-Papanicolaou,E., Christophidou-Anastasiadou,V.,
            Hofstra,R.M.W., Jongbloed,J.D.H., Nicolaou,N., Tanteles,G.A.,
            Brooks,A.S. and Alves,M.M.
  TITLE     Goldberg-Shprintzen syndrome is determined by the absence, or
            reduced expression levels, of KIFBP
  JOURNAL   Hum Mutat 41 (11), 1906-1917 (2020)
   PUBMED   32939943
  REMARK    GeneRIF: Goldberg-Shprintzen syndrome is determined by the absence,
            or reduced expression levels, of KIFBP.
REFERENCE   5  (bases 1 to 2462)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2462)
  AUTHORS   Drevillon,L., Megarbane,A., Demeer,B., Matar,C., Benit,P.,
            Briand-Suleau,A., Bodereau,V., Ghoumid,J., Nasser,M., Decrouy,X.,
            Doco-Fenzy,M., Rustin,P., Gaillard,D., Goossens,M. and Giurgea,I.
  TITLE     KBP-cytoskeleton interactions underlie developmental anomalies in
            Goldberg-Shprintzen syndrome
  JOURNAL   Hum Mol Genet 22 (12), 2387-2399 (2013)
   PUBMED   23427148
  REMARK    GeneRIF: KBP-cytoskeleton interactions is involved in neuronal
            development in Goldberg-Shprintzen syndrome.
REFERENCE   7  (bases 1 to 2462)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2462)
  AUTHORS   Wozniak,M.J., Melzer,M., Dorner,C., Haring,H.U. and Lammers,R.
  TITLE     The novel protein KBP regulates mitochondria localization by
            interaction with a kinesin-like protein
  JOURNAL   BMC Cell Biol 6, 35 (2005)
   PUBMED   16225668
  REMARK    GeneRIF: KBP is a new binding partner for KIF1Balpha that is a
            regulator of its transport function and thus represents a new type
            of kinesin interacting protein.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2462)
  AUTHORS   Brooks,A.S., Bertoli-Avella,A.M., Burzynski,G.M., Breedveld,G.J.,
            Osinga,J., Boven,L.G., Hurst,J.A., Mancini,G.M., Lequin,M.H., de
            Coo,R.F., Matera,I., de Graaff,E., Meijers,C., Willems,P.J.,
            Tibboel,D., Oostra,B.A. and Hofstra,R.M.
  TITLE     Homozygous nonsense mutations in KIAA1279 are associated with
            malformations of the central and enteric nervous systems
  JOURNAL   Am J Hum Genet 77 (1), 120-126 (2005)
   PUBMED   15883926
REFERENCE   10 (bases 1 to 2462)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease 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   20301612
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA292451.1, BC006427.1 and
            AL050190.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_015634.3.
            
            Summary: This gene encodes a kinesin family member 1 binding
            protein that is characterized by two tetratrico peptide repeats.
            The encoded protein localizes to the mitochondria and may be
            involved in regulating transport of the mitochondria. Mutations in
            this gene are associated with Goldberg-Shprintzen megacolon
            syndrome. [provided by RefSeq, Mar 2010].
            
            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 :: SRR3476690.677431.1,
                                           SRR3476690.378913.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000361983.7/
                                                  ENSP00000354848.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-73                DA292451.1         83-155
            74-1722             BC006427.1         79-1727
            1723-2462           AL050190.1         756-1495
FEATURES             Location/Qualifiers
     source          1..2462
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2462
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /note="kinesin family binding protein"
                     /db_xref="GeneID:26128"
                     /db_xref="HGNC:HGNC:23419"
                     /db_xref="MIM:609367"
     exon            1..456
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1896
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /note="kinesin binding protein; mutant KIF1 binding
                     protein"
                     /codon_start=1
                     /product="KIF-binding protein"
                     /protein_id="NP_056449.1"
                     /db_xref="CCDS:CCDS7284.1"
                     /db_xref="GeneID:26128"
                     /db_xref="HGNC:HGNC:23419"
                     /db_xref="MIM:609367"
                     /translation="MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLE
                     EVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLG
                     VNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQA
                     YLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVY
                     QHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAA
                     NVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIG
                     ELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEA
                     RELFLLGQHYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRR
                     IAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVAIADRLRDPDSHIVKKINN
                     LNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKEL
                     ENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT"
     exon            457..555
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /inference="alignment:Splign:2.1.0"
     exon            556..635
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /inference="alignment:Splign:2.1.0"
     exon            636..819
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /inference="alignment:Splign:2.1.0"
     exon            820..904
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1020
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..2462
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2434..2439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /note="hexamer: AATAAA"
     polyA_site      2462
                     /gene="KIFBP"
                     /gene_synonym="KBP; KIAA1279; KIF1BP; TTC20"
                     /note="major polyA site"
ORIGIN      
        1 attgaggaaa gccaggcagt agaggccgct atggcgaacg ttccgtgggc agaggtctgc
       61 gagaaattcc aggcggcgct cgctctgtcg cgggtggaac tgcataaaaa tccggagaag
      121 gaaccataca agtccaaata cagcgcccgg gcgctactgg aagaggtcaa ggcgctgctc
      181 ggccctgcgc ctgaggacga ggatgagcgg cctgaggccg aggacggccc gggtgccggt
      241 gaccacgccc tggggctgcc ggctgaggtg gtggagcccg aggggcccgt cgcccagcga
      301 gcggtgaggc tggcagtcat cgagttccac ctcggggtga accacatcga cacggaggag
      361 ctgtcggcgg gggaggagca cctggtgaaa tgcctgcggc tgctgcgcag gtaccggctc
      421 tcgcacgact gcatctctct ctgcatccag gcgcagaata acctgggtat cttgtggtct
      481 gaaagagaag aaattgaaac tgcacaggct tacctagagt catcagaagc actatataat
      541 cagtatatga aagaggttgg gagtcctcct cttgatccta ctgagcgttt tcttcctgaa
      601 gaagagaaac ttactgaaca agagagatca aaaagatttg aaaaggttta tactcataac
      661 ctatattacc tagctcaagt ctaccagcat ctggaaatgt ttgagaaggc tgctcactat
      721 tgccatagta cactaaaacg ccagcttgag cacaatgcct accatcctat agagtgggct
      781 atcaatgctg ctaccttgtc acagttttac atcaataagc tatgctttat ggaggccagg
      841 cactgtttat cagctgctaa tgtcattttt ggtcaaactg gaaagatctc agccacagaa
      901 gacactcctg aagctgaagg agaagtgcca gagctttatc atcaaagaaa gggggaaata
      961 gcaaggtgct ggatcaaata ctgtttgact ctcatgcaga atgcccaact ctccatgcag
     1021 gacaacatag gagagcttga tcttgataaa cagtctgaac ttagagcttt aaggaaaaaa
     1081 gaactagatg aggaggaaag cattcggaaa aaagctgtgc agtttggaac cggtgaactg
     1141 tgtgatgcca tctctgcagt agaagagaaa gtgagctact tgagaccttt agattttgaa
     1201 gaagccagag aacttttctt attgggtcag cactatgtct ttgaggcaaa agagttcttt
     1261 cagattgatg gttatgtcac tgaccatatt gaagttgtcc aagaccacag tgctctgttt
     1321 aaggtgcttg cattctttga aactgacatg gagagacggt gcaagatgca taaacgcaga
     1381 atagccatgc tagagcccct aactgtagac ctgaatccac agtattatct gttggtcaac
     1441 agacagatcc agtttgaaat tgcacatgct tactatgata tgatggattt gaaggttgcc
     1501 attgctgaca ggctaaggga tcctgattca cacattgtaa aaaaaataaa taatcttaat
     1561 aagtcagcac tgaagtacta ccagctcttc ttagactccc tgagagaccc aaataaagta
     1621 ttccctgagc atatagggga agatgttctt cgccctgcca tgttagctaa gtttcgagtt
     1681 gcccgtctct atggcaaaat cattactgca gatcccaaga aagagctgga aaatttggca
     1741 acatcattgg aacattacaa atttattgtt gattactgtg aaaagcatcc tgaggccgcc
     1801 caggaaatag aagttgagct agaacttagt aaagagatgg ttagtcttct cccaacaaaa
     1861 atggagagat tcagaaccaa gatggccctg acttaatcct tgtttttaaa gaaaggaaat
     1921 gtgcaatatt gaagtgatct ttttccctag tcagacaggc ccaattccat tgtgatgttt
     1981 acctttatag ccaggtgagt gcagtttgaa cttgagatac agtcaactga gtgtttgcta
     2041 ggatcctaag gaacataaag ttaattaaaa acttacacct aattatgtaa attgccttgt
     2101 taaagacatg tgatttgtat tttagatgct tgtttcctat taaaatacag acatttctac
     2161 cctcagtttc taaatgtaga ctatttgttg gctagtactt gatagattcc ttgtaagaaa
     2221 aaatgctggg taatgtacct ggtaacaagc ctgttaatat attaagattg aaaaagtaac
     2281 ttctatagtt actccttcta aaatatttga cttcctaaat tccccccacc caaaatcttt
     2341 cccttttgaa aatactaaaa actaagttat gttattataa agtgtaaaat ggtttgtctt
     2401 aattatagga gaaaaaggcc ttgttagaaa taaaataaac tgacttattt cactaatgaa
     2461 aa
//
