LOCUS       NM_001388308            2195 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens kinesin family member 12 (KIF12), transcript variant
            2, mRNA.
ACCESSION   NM_001388308 XM_024447404 XM_024447408
VERSION     NM_001388308.1
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 2195)
  AUTHORS   Waheed,N., Waris,R., Naseer,M., Razzaq,A., Suleman,S. and Ullah,A.
  TITLE     Clinical exome sequencing reveals a novel pathogenic variant in
            KIF12 underlying cholestasis with highly variable phenotypes
  JOURNAL   Clin Genet 105 (1), 106-108 (2024)
   PUBMED   37866826
  REMARK    GeneRIF: Clinical exome sequencing reveals a novel pathogenic
            variant in KIF12 underlying cholestasis with highly variable
            phenotypes.
REFERENCE   2  (bases 1 to 2195)
  AUTHORS   Veljacic Viskovic,D., Lozic,M., Vukoja,M., Soljic,V., Vukojevic,K.,
            Glavina Durdov,M., Filipovic,N. and Lozic,B.
  TITLE     Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1
            and KIF12 during Human Kidney Development
  JOURNAL   Biomolecules 13 (2), 340 (2023)
   PUBMED   36830709
  REMARK    GeneRIF: Spatio-Temporal Expression Pattern of CAKUT Candidate
            Genes DLG1 and KIF12 during Human Kidney Development.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2195)
  AUTHORS   Stalke,A., Sgodda,M., Cantz,T., Skawran,B., Lainka,E.,
            Hartleben,B., Baumann,U. and Pfister,E.D.
  TITLE     KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a
            Phenotypic Spectrum of Cholestatic Liver Disease
  JOURNAL   J Pediatr 240, 284-291 (2022)
   PUBMED   34555379
  REMARK    GeneRIF: KIF12 Variants and Disturbed Hepatocyte Polarity in
            Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
REFERENCE   4  (bases 1 to 2195)
  AUTHORS   Scharf,J.M., Yu,D., Mathews,C.A., Neale,B.M., Stewart,S.E.,
            Fagerness,J.A., Evans,P., Gamazon,E., Edlund,C.K., Service,S.K.,
            Tikhomirov,A., Osiecki,L., Illmann,C., Pluzhnikov,A.,
            Konkashbaev,A., Davis,L.K., Han,B., Crane,J., Moorjani,P.,
            Crenshaw,A.T., Parkin,M.A., Reus,V.I., Lowe,T.L., Rangel-Lugo,M.,
            Chouinard,S., Dion,Y., Girard,S., Cath,D.C., Smit,J.H., King,R.A.,
            Fernandez,T.V., Leckman,J.F., Kidd,K.K., Kidd,J.R., Pakstis,A.J.,
            State,M.W., Herrera,L.D., Romero,R., Fournier,E., Sandor,P.,
            Barr,C.L., Phan,N., Gross-Tsur,V., Benarroch,F., Pollak,Y.,
            Budman,C.L., Bruun,R.D., Erenberg,G., Naarden,A.L., Lee,P.C.,
            Weiss,N., Kremeyer,B., Berrio,G.B., Campbell,D.D., Cardona
            Silgado,J.C., Ochoa,W.C., Mesa Restrepo,S.C., Muller,H., Valencia
            Duarte,A.V., Lyon,G.J., Leppert,M., Morgan,J., Weiss,R.,
            Grados,M.A., Anderson,K., Davarya,S., Singer,H., Walkup,J.,
            Jankovic,J., Tischfield,J.A., Heiman,G.A., Gilbert,D.L.,
            Hoekstra,P.J., Robertson,M.M., Kurlan,R., Liu,C., Gibbs,J.R.,
            Singleton,A., Hardy,J., Strengman,E., Ophoff,R.A., Wagner,M.,
            Moessner,R., Mirel,D.B., Posthuma,D., Sabatti,C., Eskin,E.,
            Conti,D.V., Knowles,J.A., Ruiz-Linares,A., Rouleau,G.A.,
            Purcell,S., Heutink,P., Oostra,B.A., McMahon,W.M., Freimer,N.B.,
            Cox,N.J. and Pauls,D.L.
  CONSRTM   North American Brain Expression Consortium; UK Human Brain
            Expression Database
  TITLE     Genome-wide association study of Tourette's syndrome
  JOURNAL   Mol Psychiatry 18 (6), 721-728 (2013)
   PUBMED   22889924
REFERENCE   5  (bases 1 to 2195)
  AUTHORS   Zhang,Y., Li,Y., Qiu,F. and Qiu,Z.
  TITLE     Comprehensive analysis of low-abundance proteins in human urinary
            exosomes using peptide ligand library technology, peptide OFFGEL
            fractionation and nanoHPLC-chip-MS/MS
  JOURNAL   Electrophoresis 31 (23-24), 3797-3807 (2010)
   PUBMED   21082674
REFERENCE   6  (bases 1 to 2195)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (bases 1 to 2195)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Characterization of KIF12 gene in silico
  JOURNAL   Oncol Rep 13 (2), 367-370 (2005)
   PUBMED   15643526
REFERENCE   8  (bases 1 to 2195)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   9  (bases 1 to 2195)
  AUTHORS   Nakagawa,T., Tanaka,Y., Matsuoka,E., Kondo,S., Okada,Y., Noda,Y.,
            Kanai,Y. and Hirokawa,N.
  TITLE     Identification and classification of 16 new kinesin superfamily
            (KIF) proteins in mouse genome
  JOURNAL   Proc Natl Acad Sci U S A 94 (18), 9654-9659 (1997)
   PUBMED   9275178
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1999 Mar 30;96(7):4214]
REFERENCE   10 (bases 1 to 2195)
  AUTHORS   Amendola,M. and Squires,J.E.
  TITLE     Pediatric Genetic Cholestatic Liver Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36108118
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL137850.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Oct 23, 2020 this sequence version replaced
            XM_024447404.1, XM_024447408.1.
            
            Summary: This gene encodes a member of the kinesin superfamily of
            microtubule-associated molecular motors with functions related to
            the microtubule cytosekelton. Members of this superfamily play
            important roles in intracellular transport and cell division. A
            similar protein in mouse functions in the beta cell antioxidant
            signaling cascade, acting as a scaffold for the transcription
            factor specificity protein 1 (Sp1). Mice that lack this gene
            exhibit beta cell oxidative stress resulting in hypoinsulinemic
            glucose intolerance. [provided by RefSeq, Jul 2016].
            
            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 :: SRR11853565.29028.1,
                                           SRR14038194.3008539.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000640217.2/ ENSP00000491702.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                AL137850.12        95401-95442         c
            43-108              AL137850.12        95254-95319         c
            109-187             AL137850.12        95085-95163         c
            188-315             AL137850.12        94452-94579         c
            316-391             AL137850.12        94265-94340         c
            392-526             AL137850.12        93757-93891         c
            527-662             AL137850.12        93451-93586         c
            663-754             AL137850.12        92537-92628         c
            755-911             AL137850.12        92201-92357         c
            912-1030            AL137850.12        91364-91482         c
            1031-1135           AL137850.12        91173-91277         c
            1136-1238           AL137850.12        90503-90605         c
            1239-1329           AL137850.12        90331-90421         c
            1330-1416           AL137850.12        90036-90122         c
            1417-1507           AL137850.12        89557-89647         c
            1508-1612           AL137850.12        89379-89483         c
            1613-1713           AL137850.12        88692-88792         c
            1714-1832           AL137850.12        88483-88601         c
            1833-2195           AL137850.12        87788-88150         c
FEATURES             Location/Qualifiers
     source          1..2195
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     gene            1..2195
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /note="kinesin family member 12"
                     /db_xref="GeneID:113220"
                     /db_xref="HGNC:HGNC:21495"
                     /db_xref="MIM:611278"
     exon            1..42
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1972
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /note="isoform 2 is encoded by transcript variant 2;
                     kinesin-like protein KIF12"
                     /codon_start=1
                     /product="kinesin-like protein KIF12 isoform 2"
                     /protein_id="NP_001375237.1"
                     /db_xref="CCDS:CCDS94465.1"
                     /db_xref="GeneID:113220"
                     /db_xref="HGNC:HGNC:21495"
                     /db_xref="MIM:611278"
                     /translation="MEERGSPDGDLARSLEQGPEGPETPIQVVLRVRPMSAAELRRGQ
                     QSVLHCSGTRTLQVSPPGGGPEVAFRFGAVLDAARTQEDVFRACGVRRLGELALRGFS
                     CTVFTFGQTGSGKTYTLTGPPPQGEGVPVPPSLAGIMQRTFAWLLDRVQHLGAPVTLR
                     ASYLEIYNEQVRDLLSLGSPRPLPVRWNKTRGFYVEQLRVVEFGSLEALMELLQTGLS
                     RRRNSAHTLNQASSRSHALLTLYISRQTAQQMPSVDPGEPPVGGKLCFVDLAGSEKVA
                     ATGSRGELMLEANSINRSLLALGHCISLLLDPQRKQSHIPFRDSKLTKLLADSLGGRG
                     VTLMVACVSPSAQCLPETLSTLRYASRAQRVTTRPQAPKSPVAKQPQRLETEMLQLQE
                     ENRRLQFQLDQMDCKASGLSGARVAWAQRNLYGMLQEFMLENERLRKEKSQLQNSRDL
                     AQNEQRILAQQVHALERRLLSACYHHQQGPGLTPPCPCLMAPAPPCHALPPLYSCPCC
                     HICPLCRVPLAHWACLPGEHHLPQVLDPEASGGRPPSARPPPWAPPCSPGSAKCPRER
                     SHSDWTQTRVLAEMLTEEEVVPSAPPLPVRPPKTSPGLRGGAGVPNLAQRLEALRDQI
                     GSSLRRGRSQPPCSEGARSPGQVLPPH"
     exon            43..108
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            109..187
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            188..315
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            316..391
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            392..526
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            527..662
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            663..754
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            755..911
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1030
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1135
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1238
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1329
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1416
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1507
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1508..1612
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1713
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..1832
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     exon            1833..2195
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2172..2177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /note="hexamer: AATAAA"
     polyA_site      2195
                     /gene="KIF12"
                     /gene_synonym="PFIC8"
                     /note="major polyA site"
ORIGIN      
        1 gtgtgcagag caggacatgg aagaacgcgg gtcacccgac ggggatctcg cgcggagcct
       61 ggagcaaggg ccagaggggc cggaaacgcc catccaggtg gtgctcaggg tacgtcccat
      121 gagcgcggcc gagctgcgtc gagggcagca gagcgtgctg cactgctcag ggacccggac
      181 tctgcaggtg agtcctccag gcgggggtcc agaagtggcg ttccgcttcg gtgcggtgct
      241 agacgcggcg cgcacgcagg aggacgtgtt ccgggcgtgc ggcgtgcggc gcctggggga
      301 gctggcgctg cgcggtttct cctgcactgt tttcaccttt ggccagacgg gctctgggaa
      361 gacctacacc ctgactggac cccctcccca gggggagggg gtgcctgtac cccccagcct
      421 ggctggcatc atgcagagga ccttcgcctg gctgttggac cgcgtgcagc acctgggtgc
      481 ccctgtcacc cttcgcgcct cttatctgga gatctacaat gagcaggttc gggacttgct
      541 gagcctgggg tctccccggc ccctccctgt tcgctggaac aagactcggg gcttctatgt
      601 ggagcagctg cgggtggtgg aatttgggag tctggaggcc ctgatggaac ttttgcaaac
      661 gggtctcagc cgtcgaagga actcagccca caccctgaac caggcctcca gccgaagcca
      721 tgccctgctc accctttaca tcagccgtca aactgcccag cagatgcctt ctgtggaccc
      781 tggggagccc cctgttggtg ggaagctgtg ctttgtggac ctggcaggca gtgagaaggt
      841 agcagccacg ggatcccgtg gggagctgat gcttgaggct aacagcatca accgaagcct
      901 gctggccctg ggtcactgca tctccctgct gctggaccca cagcggaagc agagccacat
      961 ccctttccgg gacagcaagc tcaccaagtt gctggcagac tcactgggag ggcgcggggt
     1021 caccctcatg gtggcctgcg tgtccccctc agcccagtgc cttcctgaga ctctcagcac
     1081 cctgcgatat gcaagccgag ctcagcgggt caccacccga ccacaggccc ccaagtctcc
     1141 tgtggcaaag cagccccagc gtttggagac agagatgctg cagctccagg aggagaaccg
     1201 tcgcctgcag ttccagctgg accaaatgga ctgcaaggcc tcagggctca gtggagcccg
     1261 ggtggcctgg gcccagcgga acctgtacgg gatgctacag gagttcatgc tagagaatga
     1321 gaggctcagg aaagaaaaga gccagctgca gaatagccga gacctggccc agaatgagca
     1381 gcgcatcctg gcccagcagg tccatgcact agagaggcgt ctcctctctg cctgctacca
     1441 tcaccagcag ggtcctggcc tgaccccacc gtgtccctgc ttgatggccc cagctccccc
     1501 ttgccatgca ctgccacccc tctactcctg cccctgctgc cacatctgcc cactgtgtcg
     1561 agtgcccctg gcccactggg cctgcctgcc aggggagcac cacctgcccc aggtgttgga
     1621 ccctgaggcc tcaggtggca ggcccccatc tgcccggccc ccaccctggg cacccccatg
     1681 cagccctggc tctgccaagt gcccaagaga gaggagtcac agtgactgga ctcagacccg
     1741 agtcctggca gagatgttga cggaggagga ggtggtacct tctgcacctc ccctgcctgt
     1801 gaggcccccg aagacatcac cagggctcag aggtggggcc ggggttccaa acctggccca
     1861 gagactggag gccctcagag accagattgg cagctccctg cgacgtggcc gcagccagcc
     1921 accctgcagt gagggcgcac ggagcccagg ccaagtcctc cctccccatt gaaggccaag
     1981 tgggaaccca ggagactgct gtgtgacctc agactgggct ccacactctt gggcttcagt
     2041 ctgcccatct gctgaatgga gacagcagct gctactccac ctgcagctgg gctaggggcg
     2101 gggactgggg gtgctattta ggggaacaag gggattcagg agaaaccagg cagcagggga
     2161 tgaaatacat gaataaagag aggcatcagc tccaa
//
