LOCUS       NM_018203               2970 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens kelch domain containing 8A (KLHDC8A), transcript
            variant 2, mRNA.
ACCESSION   NM_018203
VERSION     NM_018203.3
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 2970)
  AUTHORS   Yu,Z., Li,J., Jiang,J., Li,Y., Lin,L., Xia,Y. and Wang,L.
  TITLE     [miRNA-128-3p inhibits malignant behavior of glioma cells by
            downregulating KLHDC8A expression]
  JOURNAL   Nan Fang Yi Ke Da Xue Xue Bao 43 (9), 1447-1459 (2023)
   PUBMED   37814858
  REMARK    GeneRIF: [miRNA-128-3p inhibits malignant behavior of glioma cells
            by downregulating KLHDC8A expression].
REFERENCE   2  (bases 1 to 2970)
  AUTHORS   Lee,D., Gimple,R.C., Wu,X., Prager,B.C., Qiu,Z., Wu,Q.,
            Daggubati,V., Mariappan,A., Gopalakrishnan,J., Sarkisian,M.R.,
            Raleigh,D.R. and Rich,J.N.
  TITLE     Superenhancer activation of KLHDC8A drives glioma ciliation and
            hedgehog signaling
  JOURNAL   J Clin Invest 133 (2), e163592 (2023)
   PUBMED   36394953
  REMARK    GeneRIF: Superenhancer activation of KLHDC8A drives glioma
            ciliation and hedgehog signaling.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2970)
  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  (bases 1 to 2970)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 2970)
  AUTHORS   Taipale,M., Tucker,G., Peng,J., Krykbaeva,I., Lin,Z.Y., Larsen,B.,
            Choi,H., Berger,B., Gingras,A.C. and Lindquist,S.
  TITLE     A quantitative chaperone interaction network reveals the
            architecture of cellular protein homeostasis pathways
  JOURNAL   Cell 158 (2), 434-448 (2014)
   PUBMED   25036637
REFERENCE   6  (bases 1 to 2970)
  AUTHORS   Mukasa,A., Wykosky,J., Ligon,K.L., Chin,L., Cavenee,W.K. and
            Furnari,F.
  TITLE     Mutant EGFR is required for maintenance of glioma growth in vivo,
            and its ablation leads to escape from receptor dependence
  JOURNAL   Proc Natl Acad Sci U S A 107 (6), 2616-2621 (2010)
   PUBMED   20133782
  REMARK    GeneRIF: Upregulation of KLHDC8A provides an alternative pathway
            for xenograft tumors to maintain aggressiveness in the absence of
            EGFR dependence.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA776996.1, DA497063.1,
            AK096590.1, AI698122.1, AA908205.1 and AC098933.2.
            
            On Jun 2, 2019 this sequence version replaced NM_018203.2.
            
            Summary: This gene encodes a kelch domain-containing protein which
            is upregulated in cancer. Upregulated expression of the encoded
            protein may provide an alternative pathway for tumors to maintain
            aggressiveness in the absence of epidermal growth factor receptor
            dependence. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1,2,3, and 4 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.151360.1,
                                           SRR1660809.169362.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367155.8/ ENSP00000356123.3
            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
            1-15                DA776996.1         79-93
            16-544              DA497063.1         1-529
            545-2511            AK096590.1         784-2750
            2512-2571           AI698122.1         396-455             c
            2572-2966           AA908205.1         1-395               c
            2967-2970           AC098933.2         99094-99097         c
FEATURES             Location/Qualifiers
     source          1..2970
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..2970
                     /gene="KLHDC8A"
                     /note="kelch domain containing 8A"
                     /db_xref="GeneID:55220"
                     /db_xref="HGNC:HGNC:25573"
                     /db_xref="MIM:614503"
     exon            1..390
                     /gene="KLHDC8A"
                     /inference="alignment:Splign:2.1.0"
     exon            391..955
                     /gene="KLHDC8A"
                     /inference="alignment:Splign:2.1.0"
     CDS             580..1632
                     /gene="KLHDC8A"
                     /note="S-delta-E1; substitute for delta-EGFR expression 1"
                     /codon_start=1
                     /product="kelch domain-containing protein 8A"
                     /protein_id="NP_060673.1"
                     /db_xref="CCDS:CCDS30985.1"
                     /db_xref="GeneID:55220"
                     /db_xref="HGNC:HGNC:25573"
                     /db_xref="MIM:614503"
                     /translation="MEVPNVKDFQWKRLAPLPSRRVYCSLLETGGQVYAIGGCDDNGV
                     PMDCFEVYSPEADQWTALPRLPTARAGVAVTALGKRIMVIGGVGTNQLPLKVVEMYNI
                     DEGKWKKRSMLREAAMGISVTAKDYRVYAAGGMGLDLRPHNHLQHYDMLKDMWVSLAP
                     MPTPRYAATSFLRGSKIYVLGGRQSKYAVNAFEVFDIETRSWTKFPNIPYKRAFSSFV
                     TLDNHLYSLGGLRQGRLYRQPKFLRTMDVFDMEQGGWLKMERSFFLKKRRADFVAGSL
                     SGRVIVAGGLGNQPTVLETAEAFHPGKNKWEILPAMPTPRCACSSIVVKNCLLAVGGV
                     NQGLSDAVEALCVSDS"
     exon            956..1120
                     /gene="KLHDC8A"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1336
                     /gene="KLHDC8A"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..1438
                     /gene="KLHDC8A"
                     /inference="alignment:Splign:2.1.0"
     exon            1439..2970
                     /gene="KLHDC8A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2494..2499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHDC8A"
                     /note="hexamer: ATTAAA"
     polyA_site      2512
                     /gene="KLHDC8A"
                     /note="major polyA site"
     regulatory      2909..2914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHDC8A"
                     /note="hexamer: AATAAA"
     regulatory      2920..2925
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHDC8A"
                     /note="hexamer: AATAAA"
     polyA_site      2930
                     /gene="KLHDC8A"
     polyA_site      2970
                     /gene="KLHDC8A"
ORIGIN      
        1 gcagagcggg cctttgcagc tgagactggg tggagggaga ggcgcggaga cactggggct
       61 ctgacgagct ggctgaggcc ctctcagtag gggggtcacg cctcctggaa ctcagggacc
      121 ccaagtttct gtgcattcag ggcggggctg gccccatgcc ctgtgcatag gggcctggct
      181 gcatcccagt cgatcagcca gaggcagcag cagtggactc atcaattgtg gaggaagccc
      241 tggggaccct ggggaccttg ccgactctat tcccagccag ctcctaggac aagcctcaga
      301 gccaacaccc gctcgaccct ctcccggccc ctccccttct ttgtcttttg cagatgatcg
      361 ccgggtgtcg atccttttcc ctccagtcag ggccaggcgt ggacgccgcc ggaccgctga
      421 gactcggggc acggtgaagc actggccggg gtctggctgg gtccggcgct cgggagccag
      481 atggaggtgg cgataggggc cgtgggagcc ggcgccaagt agccggtgga cccccgcgct
      541 cgcacctctc ccggcgcccg ggcgctcccc aaggctgcca tggaggtgcc taacgtcaag
      601 gacttccagt ggaagcgcct ggcgccactg cccagccgcc gggtctactg ctccctgctg
      661 gagaccgggg gccaggtcta tgccatcggg ggatgtgacg acaacggcgt ccccatggac
      721 tgcttcgagg tctactcccc ggaggccgac cagtggaccg ccttgccccg gctgcccaca
      781 gcccgggcgg gggtggccgt caccgccctg gggaagcgga tcatggtgat tgggggcgtg
      841 ggcaccaatc agctgcccct gaaggtcgtg gagatgtaca acatcgatga gggcaagtgg
      901 aagaagagga gcatgctgcg tgaggccgcc atgggcattt ctgtcacggc caaagattac
      961 cgagtatatg cggcaggcgg gatgggcctg gacctacgtc cacacaacca cctccaacac
     1021 tatgacatgc tgaaggacat gtgggtgtcc ctagcaccca tgcccacccc gagatatgct
     1081 gccacctcct tcctccgagg ctccaagatc tacgtgctgg ggggacgaca gtccaagtac
     1141 gcggtcaacg ctttcgaggt ctttgacatc gagactcgct cctggaccaa gtttcccaac
     1201 attccctata agcgggcctt ctccagcttt gtgaccctgg acaaccactt gtacagccta
     1261 ggaggcctgc ggcaaggtcg cctctaccgg cagcccaagt tcctgcggac gatggacgtg
     1321 ttcgacatgg aacagggggg atggctgaag atggaacgat cgttcttcct caagaagcgg
     1381 cgggcagatt ttgtggctgg ctctctgagt ggacgggtca tagtggctgg gggacttggg
     1441 aatcaaccca ctgtcctgga gacggcggaa gcattccacc cagggaagaa caaatgggag
     1501 atcctccctg ccatgcccac accccgctgt gcctgctcca gcatagtcgt caagaactgc
     1561 ctcctcgccg tgggaggtgt caaccagggt ctgagtgacg cagtggaggc cctgtgtgtc
     1621 tctgactcct agctgtctct gggctcagta cctttgccct ggaccatatc acttcactct
     1681 taacatgagg aatgatcttg tccaagcagt cggggctact tccaagaatg tcagctcctg
     1741 ttagcaacca gtggagtctg gccttggggc tctaagttga cctctctata gctccaaatc
     1801 ctaccaatct cagaaaactg taagaggcac agatgactcc accagctgca gagctgactc
     1861 tgaagagagt cttcacttac tgcacaggca aagaaaggca caggaatatt tcctacctct
     1921 ccctcctgtg agtcccacct ccccccaccc ccatctccag gaggcaggta gagcagttct
     1981 gaccgagagg atagactgct gttgctgtct ttccccagct ctgaactagt tttaaggtag
     2041 cttaggatga aaaatggaga atgattgggg gttccaaacc actttcttct cccttggctt
     2101 atatctcttc accatttggt ggtcaactgt gggcctaccc tggacctcat ctactcagcg
     2161 agaattggac atgaagctag aggcagctgc cttggaaggg aagtcaggct cacttggaca
     2221 gcccaggcca tggcaggaag aatcccttcc tcttggggtc cttgatgggc atgtgtgatg
     2281 gggaaggagc agtctcccag ccctgggtct gctccccaca tctctcctaa ttccacttca
     2341 ccttttgcca ccccctcccc accagaggcc tagccctttt gtcaccgaag gcccccagag
     2401 tgtttctgtg tgaaaccctc tcatttacac tgtggcatca aaatccacaa aagatggatt
     2461 aattgcactc tggttaatag cagcagcaca atgattaaaa tctatattcc tatcttctct
     2521 agcaccctgg tgtggggatg gggcggaagg gtgtcttgag gggcagggag gaccccataa
     2581 aacaatccct cctgcattct caggctaaat agggccccca gtgactacct gttcttggct
     2641 gtcccctctg aagagctctg ccttctcaca gccaccacca gttgccccac tcccaggaaa
     2701 acagcacatg ttcttcttct cctgccttga gactgcgtgt tagtcttcca ttcataactc
     2761 atcagcagct cagtccttct tatgtctagt ctcagttcat tcagccaaag ctcatttttg
     2821 tcctatccaa agtagaaagg gttcttttag aaaacttgaa gaatgtgcct cctcttagca
     2881 tctgtttctg actcccagtt atttttaaaa taaatgatga ataaaatgcc tgccctgaag
     2941 ggttctggag gagtcaggta tcactcatca
//
