LOCUS       NM_001388359            7365 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens KIAA0513 (KIAA0513), transcript variant 5, mRNA.
ACCESSION   NM_001388359 XM_005256265
VERSION     NM_001388359.1
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 7365)
  AUTHORS   Marczok,S., Bortz,B., Wang,C. and Pospisil,H.
  TITLE     Comprehensive Analysis of Genome Rearrangements in Eight Human
            Malignant Tumor Tissues
  JOURNAL   PLoS One 11 (7), e0158995 (2016)
   PUBMED   27391163
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7365)
  AUTHORS   Ahmeti,K.B., Ajroud-Driss,S., Al-Chalabi,A., Andersen,P.M.,
            Armstrong,J., Birve,A., Blauw,H.M., Brown,R.H., Bruijn,L., Chen,W.,
            Chio,A., Comeau,M.C., Cronin,S., Diekstra,F.P., Soraya Gkazi,A.,
            Glass,J.D., Grab,J.D., Groen,E.J., Haines,J.L., Hardiman,O.,
            Heller,S., Huang,J., Hung,W.Y., Jaworski,J.M., Jones,A., Khan,H.,
            Landers,J.E., Langefeld,C.D., Leigh,P.N., Marion,M.C.,
            McLaughlin,R.L., Meininger,V., Melki,J., Miller,J.W., Mora,G.,
            Pericak-Vance,M.A., Rampersaud,E., Robberecht,W., Russell,L.P.,
            Salachas,F., Saris,C.G., Shatunov,A., Shaw,C.E., Siddique,N.,
            Siddique,T., Smith,B.N., Sufit,R., Topp,S., Traynor,B.J., Vance,C.,
            van Damme,P., van den Berg,L.H., van Es,M.A., van Vught,P.W.,
            Veldink,J.H., Yang,Y. and Zheng,J.G.
  CONSRTM   ITALSGEN consortium; ALSGEN Consortium
  TITLE     Age of onset of amyotrophic lateral sclerosis is modulated by a
            locus on 1p34.1
  JOURNAL   Neurobiol Aging 34 (1), 357 (2013)
   PUBMED   22959728
REFERENCE   3  (bases 1 to 7365)
  AUTHORS   Lauriat,T.L., Dracheva,S., Kremerskothen,J., Duning,K.,
            Haroutunian,V., Buxbaum,J.D., Hyde,T.M., Kleinman,J.E. and
            McInnes,L.A.
  TITLE     Characterization of KIAA0513, a novel signaling molecule that
            interacts with modulators of neuroplasticity, apoptosis, and the
            cytoskeleton
  JOURNAL   Brain Res 1121 (1), 1-11 (2006)
   PUBMED   17010949
  REMARK    GeneRIF: KIAA0513 is likely to be involved in signaling pathways
            related to neuroplasticity, apoptosis, and cytoskeletal regulation
            and is upregulated in the prefrontal cortex in schizophrenia.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092341.5 and AC026469.8.
            
            On Oct 27, 2020 this sequence version replaced XM_005256265.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.154139.1,
                                           SRR14372079.2135581.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683363.1/ ENSP00000507772.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-64                AC092341.5         4089-4152           c
            65-565              AC026469.8         90869-91369         c
            566-665             AC026469.8         86387-86486         c
            666-739             AC026469.8         85271-85344         c
            740-810             AC026469.8         82355-82425         c
            811-1018            AC026469.8         80637-80844         c
            1019-1059           AC026469.8         79814-79854         c
            1060-1138           AC026469.8         79266-79344         c
            1139-1216           AC026469.8         76877-76954         c
            1217-1246           AC026469.8         75676-75705         c
            1247-1327           AC026469.8         71545-71625         c
            1328-1422           AC026469.8         71103-71197         c
            1423-7365           AC026469.8         64051-69993         c
FEATURES             Location/Qualifiers
     source          1..7365
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.1"
     gene            1..7365
                     /gene="KIAA0513"
                     /note="KIAA0513"
                     /db_xref="GeneID:9764"
                     /db_xref="HGNC:HGNC:29058"
                     /db_xref="MIM:611675"
     exon            1..64
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            65..565
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     CDS             237..1472
                     /gene="KIAA0513"
                     /note="isoform a is encoded by transcript variant 5"
                     /codon_start=1
                     /product="uncharacterized protein KIAA0513 isoform a"
                     /protein_id="NP_001375288.1"
                     /db_xref="CCDS:CCDS32499.1"
                     /db_xref="GeneID:9764"
                     /db_xref="HGNC:HGNC:29058"
                     /db_xref="MIM:611675"
                     /translation="METPEVPVGSLIDFGPEAPTSSPLEAPPPVLQDGDGSLGDGASE
                     SETTESADSENDMGESPSHPSWDQDRRSSSNESFSSNQSTESTQDEETLALRDFMRGY
                     VEKIFSGGEDLDQEEKAKFGEYCSSENGKGREWFARYVSAQRCNSKCVSEATFYRLVQ
                     SFAVVLFECHQMDDFGPAKNLMTMCFTYYHIGKPQLLPPESREKPAGSIDSYLKSANS
                     WLAEKKDIAERLLKNTSARTENVKGFFGGLETKLKGPLARRNEEDENKPQEKRPRAVT
                     AYSPEDEKKGEKIYLYTHLKQQPIWHTLRFWNAAFFDAVHCERTKRSPTTRGDAGEEE
                     EKREKWCHMTQEERDDSLRFNENITFGQLGTFTHNMLAFGLNKKLCNDFLKKQAVIGN
                     LDEEQYKLLSDHIEQMATE"
     exon            566..665
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            666..739
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            740..810
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            811..1018
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1059
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            1060..1138
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1216
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1246
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1327
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1422
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     exon            1423..7365
                     /gene="KIAA0513"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4679..4684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIAA0513"
                     /note="hexamer: ATTAAA"
     polyA_site      4708
                     /gene="KIAA0513"
                     /note="major polyA site"
     polyA_site      7365
                     /gene="KIAA0513"
                     /note="major polyA site"
ORIGIN      
        1 gcagtcgccg cagcagccga gtctgacggc gccggttcgc tgcccggtcc gcccgcggtg
       61 agagatgccg tagggccagg tgagctgctg tgaaggactc attcttggta gccggcagtt
      121 actggcaact tgtgagcttg gtgggctcct actaacgcac ctgggacacc aggctgctgg
      181 gctcccctct aggcagcctc ccctccaggc agcctcacca gcagctcccc tgagccatgg
      241 agaccccaga ggtccccgtg ggctcgctaa tcgactttgg gcctgaggca cccacctctt
      301 ctcccctgga ggcaccaccc cctgtgctgc aggacggcga tggctccctg ggggacggtg
      361 catcagagag tgagaccact gagtctgcgg acagtgagaa tgacatgggc gagtcgccct
      421 cgcacccgtc ctgggaccaa gaccgccgtt cctcctccaa cgagtccttc tcctccaacc
      481 agagcaccga gtctacccag gatgaagaga ccctggcact cagggacttc atgcgtggct
      541 acgtggagaa gatcttctct ggaggggagg acttggatca ggaggagaaa gccaagtttg
      601 gagagtactg cagcagtgaa aatggaaaag gccgggagtg gtttgctcga tacgtgagtg
      661 cccagcgctg caactccaag tgtgtctcag aggcaacctt ctaccgcctg gtgcagtctt
      721 ttgcagtggt gctgttcgag tgtcatcaga tggatgactt tgggcctgcc aagaacctca
      781 tgaccatgtg cttcacctac taccacatcg gaaaaccaca gctgctgccc ccggagtccc
      841 gggagaagcc cgcgggcagc atcgactcct acctgaaatc cgcaaacagc tggctggccg
      901 aaaagaagga catcgccgag cggctgctga agaacacctc ggccaggact gagaatgtca
      961 agggcttctt cggggggctg gagaccaagc tgaaggggcc cctggccagg aggaacgagg
     1021 aagacgagaa caaaccccag gagaagcggc ccagggctgt gaccgcgtac agccccgagg
     1081 acgaaaagaa gggggagaag atctacctgt acacgcacct gaagcaacag cccatctggc
     1141 acactctgag gttctggaat gcagcctttt ttgacgctgt ccattgtgag aggacaaagc
     1201 gatctcccac taccagaggg gatgctggag aggaggagga gaagagggag aagtggtgcc
     1261 acatgaccca ggaggagcgc gacgacagcc tccggttcaa cgagaacatc accttcgggc
     1321 agctgggcac attcacgcac aacatgctgg cctttggact gaacaagaag ctgtgcaatg
     1381 acttcctgaa gaagcaggct gtgattggca acctggatga agagcaatac aagctgctta
     1441 gtgaccacat tgagcaaatg gccactgagt aggccccaga ggtcgcactc cgcaggagga
     1501 ctgaggccat gtgccattct cccgggccca gcgcccggcc gtcaccccac ccgatgacct
     1561 gcatgaagcc agcagcaccc agagccactc ctgctgccct agaactagcg gttagaagaa
     1621 tccgctgttc ctccctcatc tcctctgcct gtgtctgcga cccccatcca tgtgccaaag
     1681 tgtcccttgg gtcacacagc taaagccgag gtgaccagtt gtaccccgag tgccaggctt
     1741 gtgagatgag accaagaggg aggaggggaa ggactccatg ggccatcgtg ggccaagggc
     1801 tggcgagggt gggggcgggc aagggatgca ggcaggacag ccatgaggtg gggctgcagc
     1861 cggcacaccc agtggtggag ggccggcgct gccactcacg gtgggtggcc gtgggccacc
     1921 ttccctgcaa tgggtgcaca cgcggctccc atccagccct ctcagcgtgg ggctgtggct
     1981 ggtcctcact attccccagt ctcccgctgt ggggcaggaa caggaagtga cgggaacctt
     2041 gaggaggaaa cgcctgtgtt agggagagag tgggtgcggt gtagaggatg ctcttggccg
     2101 gctggagcaa gacctggctc ccaccagagg gacgtgtgtg tgcctgcaga cggcccggga
     2161 gctgtgtgtc tccgccagag tcacagcagt gccgaggtgt ccgcggcaga ccacacagac
     2221 cgtctgaaat gcgcccgcct ggcggacagc tcccttctga agcagagaag cctccatggt
     2281 cacgaagcag cgttgtgctg tgtgtccctc gcaagaagca caggaaagag aagtttcttt
     2341 agtagccact agacaaccac cctttctgaa agcaaacagt gctgctcttt attccagaca
     2401 aggcaggaaa gtctgagttg ggagtgacag tggctggaga gaagcagatc tgtgcaacgt
     2461 gcagggcaag ccagtggcgt ggcctctgcc tctaagcgct gagcattggg ccccttcccc
     2521 accagacctt tgtagctcct ccagcctctg cagagactcc cttcacctcg cacttactgc
     2581 ctgggaacca cggcccttct cttctgtggg tctgtaccag gtactccagg ccagcccatg
     2641 ggcccggggc ctgaccccaa cacctgcatg ctgggtccag agccttctgt ttcaccgtgc
     2701 gtggacactg ctaggccgcc tggggtcccc tgcctcctgc ctgtcgctgc cgtggtccct
     2761 gactgcgaaa taggcccgcg gggctctccc tcctcctgcc atcctcccct cccgcccttc
     2821 ctggctacct cctctgacat gcggtcagat aagtcccgtc ttgtttgtga gtaccacaga
     2881 aacgcctgag agtcacttac ccggccactg cttggaaggt ttccctccgg ggaatgcctc
     2941 cctggaatgt tccagagacg gaacattctc tagagacaac agtctgtgct gcagattggt
     3001 tggatcacag aatgtgtgtc tggggcatta tctgaaacgt ggtgtcatct gatgcatttg
     3061 gaccatatgc tgccagactg cagaacgggg gagccggggc tcagggcccc tgactgcatg
     3121 gtgcatgagt gatctcagcc tagcgatgcc gctggccaga ccgtgaccat gctgccagtg
     3181 tgctcgccat gagctgggtc agggctgggg agttgtgcag gctggggtga cccttccccc
     3241 atcattgggc cccaacgggc atgtctccac cgaatccatt tagagaaatg tcagagcgag
     3301 ggttgtgtgg acacccctcg ctctgatgcc aactgcagat aatacacacc tcctgcagcg
     3361 tccagccacg gctccagggc actgctctcc tccttgcacc ggtgaaactc aggccacact
     3421 caagggctga ctgtccaggc gctcccttca gccgcctcgt cgtcagcgtt cttagtcatg
     3481 cattattcgt gttagctgaa atgcattcag actttgttct gcggtgccca caggacttac
     3541 ccctgtatgt acaggatttt tgtatgaaag ttttgtttga ttctgagact ctcttgggaa
     3601 cgctggagag cttgtgcaca gcctctggaa ggaaaggcag cgctgacttc gttgggcttt
     3661 tttccaagca ctttaacttc agaaatggtc ttgacacttt tttctccaca tagactcttg
     3721 aaatagccat ttcaggggag gaaagggttg gggttttctt tgtttgtttg tttgtttccc
     3781 cctttactac ctgttcttgt agatctagct cctcagagtt ggaggaaggc tgacagagaa
     3841 ggtctcctct gtgctccatc cacacaggat gccggagaga cagccccttg tgctgtgagc
     3901 agagcaggca gtggctctgg aggctgcctg tggtctcctt ccggctgtgg ctgacagtgg
     3961 ctctggccag ggttgcttgg agaaggctca gtgtgcctgg gacagggctt accacctgcc
     4021 accaaggttt cctctcttcc cccaggacct gggcagagca ggcatgagct gggctgtggt
     4081 gcagagcaag cagacccagc cacactgctc aaaggtccct gcgtggggag gtgtcacacc
     4141 aggggcacac ccagggccac ctgggtgtag gagagctctg gtggcccctc cgtaaactca
     4201 ggaagtgtca ggtgatttcc tagggagagg ttcccagtcc cagcaggcag aatgcccaaa
     4261 accaggagca cgaaggcctg tcatccatgg ggccattgca ggcactctgc cgcccgacct
     4321 tgagggctgt gccaatccta gtgaaccaaa atgcaaacaa ctcacacaag tgaaaagctc
     4381 cctgctttga aaacaggaca tgttgacagg cagcatggta tgtttttagc ctttgttaca
     4441 gttttagcaa cattgatgtc taagaggggc cgtggtaata gattgcatct gccctgtgca
     4501 tgcgcatgtt taaccacagg ccagagaact caattctgat gtcgtaagtt ctctgtaagt
     4561 gaaatggggt agactgtatg attttcctat tgccaaaaga aagaaagggg gccaaacagc
     4621 tctgaaattt ccaaaaaatg gctagaggga gagtccagtt tctgagctct gtacccaaat
     4681 taaaatcctg atgttcaggt taatccaagc aacacgcatt gggtttaaaa ccagcaccga
     4741 ggcccagtgg gggaatcaca gacatcacca agtctcgtct tctttccttc ctgtgagttg
     4801 aaaccaaaca ggcctctcgc tcactcctcc cagcccagta atgctgagga gttcagttgt
     4861 gaggaaagaa ggctggagct gtgagattcg cttttcccta ggctgttccg cgtgggttac
     4921 cttatcaccc tggagcactt ggtattccag acccctgaca tgaggaatgc aggttcacac
     4981 tgtaaagagt ttgtgaaagg tttcagtcta actggggttc cttagctgga agccagggct
     5041 ggaagctaca ggcctgacct tcctgggtcc cactatctgt tggcattttt tttttttttt
     5101 tttttttaga cggagttttg ctcttgttgc ccaggctgga gtgcagtgac acaatctcta
     5161 ctcactgcaa cctccacctc ccgggttcaa gcaattctcc tgcctcagcc tcctgagtag
     5221 ctgggatgac aggtgcacgc caccacgccc ggctaatttt tatatttttg gtagagatgg
     5281 ggtttcacca tgctggccag gctggtctcg aactcctgac ctcaggtgat cccccccacc
     5341 tcagcctccc aaagtgctgg gattacaggc gtgaggcatc acacctgcct ctgttggctt
     5401 tttagttagg aaggatccag ctaggcccgt gtggttagat cagctttgtt actgaattac
     5461 ctaaaaccag accacagcac agccagggag cccagtagtg tttccaagaa cagtgtggag
     5521 cttgagaaag agaactttaa aaattagagg gtccctttct gcagaggaag ggatgctcgc
     5581 agggtggcag tggcccagcc ccagcctcag ggacggggag ggagagcccc ctctgggccc
     5641 agcaggcagg tgttctgagg ctggtccctc ctcagtttcc gcagccacaa ggcgaaacgg
     5701 ccagattctc actcaaggtc gttctcactc cttttcctgt cccgtttcca gtcccactga
     5761 gccattcact tctgctgaac catttttctt aggatgcagc cgtctcactc ccttgtcctg
     5821 taaatcgtgt attcatgttg atgattcttg gagataggtt tcactttttc ccagctgcgt
     5881 ccacaggaaa ggggagtcgg atgccagctg caccccgcct ggctcgcaca ggctaagacc
     5941 acagacagag cagggcttcc cggagccaca caggccacgc accccaggaa cccttgctgc
     6001 cgcgggccag gaacaggaat gtgttggtgc ctgagacacc aaatggaaga agcacatcaa
     6061 gactgttctc ctgcggccaa cactggcccg gaagccgccc tccatacagg ccctcagggg
     6121 gcctgccttc tgcgcctcag tcccccgtgc atccctgggc ctgggtatca catgctctcc
     6181 aggaaaggga cggaatcaat cctgtgaccg atgggctcgc aaggatgggt gccgccgtgg
     6241 gagccctgcc tctggtgctg gcaagggatt gggtttgtgt gggtgtctct agcctgcaga
     6301 gtgcagtgag tgagagtcct tgggagcgcg gcgctgcctg tagctgtgcc tggggatgca
     6361 cgtggccacg ggatttcagt gggacagcgc tcccacaggg gctgggggtg ggggtggggt
     6421 ttcttagtta ctgttggaaa gggaaaaatt caccatatcc aaggggagag acgatgggct
     6481 gggtttgttt actccaactt cccttctaca cccctcctgc aggacagtac gatttgggga
     6541 gaacccagct ccccacttta tctgcagact ctgggacctg acaaaacagt cagagcctga
     6601 gtgcactgca gcctgaactc ccttgagcag cgctataagg gactttgcac tttaaaaagg
     6661 ggatgcctgt cagtaaatcc cctgtgcatt gactagaact ggggggctgc gcccgctccc
     6721 tccttaatcc tagatgattt gctcatgaaa tagaggtggg ggacgaccgc atgcactctg
     6781 ggaggtgcag ccctaagggg tggactccag atctccctgc aagagacagc ttggcttggc
     6841 tttggctgtt ggggaggagt ccctgccatc ccggtgagcc tggggctgtt gcttagggtc
     6901 ttctgggtgg acacgtggag aaagagaagg caaacgttgg aacactagga aaagctagaa
     6961 attcagacaa cacacatgga tccccttaaa acatgtaaat gtgtcagaac acggttgacc
     7021 tgccgccttc ttgaacctgg tggcccccgt tggaactatc agtggcgtct cccatgcaca
     7081 cgccctctgc tttctctttc ctagactcgc ggtgctcaca tccagacatt accttgttgg
     7141 tagcccccaa gtggcgtgca gtgacaccag tatcttctct gttgcatttt tgcaatcttg
     7201 tgtcccgctc ggtgatgttc tacaaactct gttttaaggt tgagaaagtt tcaagggtga
     7261 agatctcaaa acagtgctaa aatcaaaggt gtttgctgtg aagaaaaaca tgtgtatata
     7321 ttgcaccttg agttgtcaga aggtagaaac tgaaataaac taact
//
