LOCUS       NM_020805               4271 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens kelch like family member 14 (KLHL14), mRNA.
ACCESSION   NM_020805 XM_035405
VERSION     NM_020805.3
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 4271)
  AUTHORS   Choi,J., Phelan,J.D., Wright,G.W., Haupl,B., Huang,D.W.,
            Shaffer,A.L. 3rd, Young,R.M., Wang,Z., Zhao,H., Yu,X., Oellerich,T.
            and Staudt,L.M.
  TITLE     Regulation of B cell receptor-dependent NF-kappaB signaling by the
            tumor suppressor KLHL14
  JOURNAL   Proc Natl Acad Sci U S A 117 (11), 6092-6102 (2020)
   PUBMED   32127472
  REMARK    GeneRIF: Novel tumor suppressor, KLHL14, is a subunit of a
            ubiquitin ligase that associates with the endoplasmic
            reticulum-associated protein degradation machinery. KLHL14 promotes
            ubiquitylation of B cell receptor (BCR) subunits and decreases the
            stability of immature BCR glycoforms in the endoplasmic reticulum,
            thereby reducing BCR levels. Conversely, loss of KLHL14 promotes
            BCR-dependent NF-kappaB activation and survival.
REFERENCE   2  (bases 1 to 4271)
  AUTHORS   Vater,I., Montesinos-Rongen,M., Schlesner,M., Haake,A.,
            Purschke,F., Sprute,R., Mettenmeyer,N., Nazzal,I., Nagel,I.,
            Gutwein,J., Richter,J., Buchhalter,I., Russell,R.B., Wiestler,O.D.,
            Eils,R., Deckert,M. and Siebert,R.
  TITLE     The mutational pattern of primary lymphoma of the central nervous
            system determined by whole-exome sequencing
  JOURNAL   Leukemia 29 (3), 677-685 (2015)
   PUBMED   25189415
REFERENCE   3  (bases 1 to 4271)
  AUTHORS   Dhanoa,B.S., Cogliati,T., Satish,A.G., Bruford,E.A. and
            Friedman,J.S.
  TITLE     Update on the Kelch-like (KLHL) gene family
  JOURNAL   Hum Genomics 7 (1), 13 (2013)
   PUBMED   23676014
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4271)
  AUTHORS   Zhao,C., Brown,R.S., Chase,A.R., Eisele,M.R. and Schlieker,C.
  TITLE     Regulation of Torsin ATPases by LAP1 and LULL1
  JOURNAL   Proc Natl Acad Sci U S A 110 (17), E1545-E1554 (2013)
   PUBMED   23569223
  REMARK    GeneRIF: TorsinA ATP hydrolysis is induced upon association with
            LAP1 and LULL1, type II transmembrane proteins residing in the
            nuclear envelope and endoplasmic reticulum.
REFERENCE   5  (bases 1 to 4271)
  AUTHORS   Giles,L.M., Li,L. and Chin,L.S.
  TITLE     Printor, a novel torsinA-interacting protein implicated in dystonia
            pathogenesis
  JOURNAL   J Biol Chem 284 (32), 21765-21775 (2009)
   PUBMED   19535332
  REMARK    GeneRIF: Printor is a torsinA-interacting protein implicated in
            dystonia pathogenesis
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC012123.8 and AB037805.1.
            
            On May 17, 2019 this sequence version replaced NM_020805.2.
            
            Summary: The protein encoded by this gene is a member of the
            Kelch-like gene family, whose members contain a BTB/POZ domain, a
            BACK domain, and several Kelch domains. The encoded protein
            possesses six Kelch domains and localizes to the endoplasmic
            reticulum, where it interacts with torsin-1A. [provided by RefSeq,
            Sep 2015].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB037805.1, SRR18074969.1981062.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359358.9/ ENSP00000352314.4
            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
            1-12                AC012123.8         94199-94210
            13-4271             AB037805.1         1-4259
FEATURES             Location/Qualifiers
     source          1..4271
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..4271
                     /gene="KLHL14"
                     /note="kelch like family member 14"
                     /db_xref="GeneID:57565"
                     /db_xref="HGNC:HGNC:29266"
                     /db_xref="MIM:613772"
     exon            1..357
                     /gene="KLHL14"
                     /inference="alignment:Splign:2.1.0"
     exon            358..1347
                     /gene="KLHL14"
                     /inference="alignment:Splign:2.1.0"
     CDS             401..2287
                     /gene="KLHL14"
                     /note="printor; protein interactor of Torsin-1A;
                     kelch-like 14"
                     /codon_start=1
                     /product="kelch-like protein 14"
                     /protein_id="NP_065856.1"
                     /db_xref="CCDS:CCDS32813.1"
                     /db_xref="GeneID:57565"
                     /db_xref="HGNC:HGNC:29266"
                     /db_xref="MIM:613772"
                     /translation="MSRSGDRTSTFDPSHSDNLLHGLNLLWRKQLFCDVTLTAQGQQF
                     HCHKAVLASCSQYFRSLFSSHPPLGGGVGGQDGLGAPKDQQQPPQQQPSQQQQPPPQE
                     EPGTPSSSPDDKLLTSPRAINNLVLQGCSSIGLRLVLEYLYTANVTLSLDTVEEVLSV
                     SKILHIPQVTKLCVQFLNDQISVQNYKQVCKIAALHGLEETKKLANKYLVEDVLLLNF
                     EEMRALLDSLPPPVESELALFQMSVLWLEHDRETRMQYAPDLMKRLRFALIPAPELVE
                     RVQSVDFMRTDPVCQKLLLDAMNYHLMPFRQHCRQSLASRIRSNKKMLLLVGGLPPGP
                     DRLPSNLVQYYDDEKKTWKILTIMPYNSAHHCVVEVENFLFVLGGEDQWNPNGKHSTN
                     FVSRYDPRFNSWIQLPPMQERRASFYACRLDKHLYVIGGRNETGYLSSVECYNLETNE
                     WRYVSSLPQPLAAHAGAVHNGKIYISGGVHNGEYVPWLYCYDPVMDVWARKQDMNTKR
                     AIHTLAVMNDRLYAIGGNHLKGFSHLDVMLVECYDPKGDQWNILQTPILEGRSGPGCA
                     VLDDSIYLVGGYSWSMGAYKSSTICYCPEKGTWTELEGDVAEPLAGPACVTVILPSCV
                     PYNK"
     exon            1348..1469
                     /gene="KLHL14"
                     /inference="alignment:Splign:2.1.0"
     exon            1470..1559
                     /gene="KLHL14"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..1638
                     /gene="KLHL14"
                     /inference="alignment:Splign:2.1.0"
     exon            1639..1829
                     /gene="KLHL14"
                     /inference="alignment:Splign:2.1.0"
     exon            1830..1988
                     /gene="KLHL14"
                     /inference="alignment:Splign:2.1.0"
     exon            1989..2146
                     /gene="KLHL14"
                     /inference="alignment:Splign:2.1.0"
     exon            2147..4271
                     /gene="KLHL14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4251..4256
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL14"
                     /note="hexamer: AATAAA"
     polyA_site      4271
                     /gene="KLHL14"
                     /note="major polyA site"
ORIGIN      
        1 actctcgtta cgactcactg agccccaggc ccaaggataa tgatgtgttg tttcttggta
       61 gcataatttg tcacacgtac attttttctt cttcttctct tgcagaaagc tctgctccct
      121 ctctctctcc ctctctcttt ctctcttttc tccctctcct acattttctt gctgttgcta
      181 attcatggtg atcaaatgat gtacgacaaa ataaattgta aagagtgact gcctggagtt
      241 gggaaccaga aggtgttttc cccctcccaa ggagacagca aacctttaaa aaggaaggac
      301 aattgatttt tggggggagc ttaagtgagc cttgactttg cagctggttg agaacaggtt
      361 ggaggagggt ttaaagccag gtgcaccgag tcagctcgcc atgtccagat ccggggacag
      421 gacctccacc ttcgacccca gccacagcga caacctgctg cacggcctca acctgctgtg
      481 gaggaagcag ctgttttgcg acgtgaccct gacggcccag ggccagcagt tccattgcca
      541 caaggccgtg ctggcctcct gctcgcagta cttccgatcg ctcttctcca gccacccccc
      601 tctcggggga ggggtcggcg gccaggacgg cctgggggcc cccaaggacc agcagcagcc
      661 gccgcagcag cagccgtcac agcagcagca gccgccgccg caggaggagc ccgggactcc
      721 ttcttcctcc cccgacgaca agctgctgac cagcccccgg gccatcaaca acctggtgct
      781 gcagggctgc tcgtccatcg ggctgcgcct ggtgctcgag tacctctaca cggccaacgt
      841 gaccctgtcc ctggacacgg tggaggaggt gctgtcggtc agcaagatcc tgcacatccc
      901 ccaggtcacc aagctctgcg tgcagttcct caacgaccag atctcggtgc agaactacaa
      961 gcaggtgtgc aagatcgccg cgctgcacgg cctggaggag accaagaagc tggccaacaa
     1021 gtacctggtg gaggatgtgc tgctgctcaa cttcgaggag atgcgcgccc tgctggactc
     1081 gctgccgccc cccgtggagt cggagctggc gctcttccag atgtccgtgc tgtggctgga
     1141 gcacgaccgc gagacccgca tgcagtatgc gcctgacctc atgaagcgcc tccgcttcgc
     1201 cctcatcccg gccccggagc tggtggagcg ggtccagtca gtggatttca tgcgaaccga
     1261 cccggtctgc cagaagctgc tgctggacgc catgaactac cacctgatgc ccttcaggca
     1321 gcactgcagg cagagcctgg ccagcagaat tcgctctaac aagaaaatgc tgttattggt
     1381 tggagggctg cctcctggac cggaccggct ccccagcaat ttggttcagt attacgacga
     1441 tgaaaagaag acatggaaaa tactcacaat tatgccatac aacagtgccc accactgcgt
     1501 tgtggaggtg gaaaacttct tgttcgtgtt gggtggagag gaccagtgga atccgaatgg
     1561 aaaacacagt acaaattttg tcagccgata tgatcctcga tttaatagct ggattcaact
     1621 tccacccatg caggaaagaa gagccagttt ctatgcatgt cggttggaca agcatttata
     1681 cgtaattggt ggaaggaatg aaactggcta cttgtccagc gtggagtgct ataacctaga
     1741 aacgaatgaa tggcgctatg tgtcctcttt gccacagcct ctggcggctc atgcgggagc
     1801 agtgcacaat gggaaaatat acatttcagg gggtgtacac aatggagaat atgtcccatg
     1861 gctatattgc tatgacccag taatggatgt ctgggctcga aaacaagata tgaacacaaa
     1921 acgtgcaatt cacactttgg ctgtaatgaa tgatcgcttg tatgcaattg gaggaaatca
     1981 tttgaaaggt ttctcccacc ttgatgtaat gcttgtggaa tgctatgacc caaaaggtga
     2041 ccagtggaat atactccaaa ctcccatttt ggagggtcga agtggccctg gctgtgcagt
     2101 gcttgatgac agcatttacc ttgtgggagg ctacagctgg agtatggggg cctacaagtc
     2161 atctacaata tgctattgtc cagagaaagg aacctggaca gaactcgaag gagatgtagc
     2221 agaaccgttg gcaggccctg cctgtgtgac agttattctg ccctcttgtg taccatacaa
     2281 caaataacac caggaaactc tggaatgaac agtatcacat tctaggaagc aatggcaggt
     2341 gacatcacta ttataatagg aacaatgcat tctaatggta caactgccaa aacccaccct
     2401 tggtttctga tgatttataa gtaactacaa aagaaagaga cctgttcttg aacagatact
     2461 atgtctataa ctcagatcgc accaaacttc ctgtggtgac agactcttcc atttcagact
     2521 ggttttaact tatcccagct ttacaaaaac tcttcatgtg aatcttaact tgcaaaagga
     2581 gaaagataaa atacagaaga ctggccccag agagacctca gatcagtatt gtgcattgta
     2641 gtctacctgc atgtgatcta tgttgacatt tcggggatat tgtgttcaag aatgattcca
     2701 aatttgagcc accaaaatac actgcattac agaaattgcc acttgattct gtactcttaa
     2761 cctttggcta cttcacagac tccattggca acactgttat tgaaaatcat gtaagattaa
     2821 agagaggcat tttcgtttct atacaacttc atttcataca ccttctgccc ttacagcacc
     2881 tcatgggatc agaaaagaga aagatgttgg ctcttgtaat aaatgctttc taccctatag
     2941 gttctaggct agacagagtc gtcatttctg tgtcctcaat tttatctgaa agattaaaac
     3001 aaaatatatt atgtcactat tcagttcatg gaggtttgtg ctttttcata ttttgtgata
     3061 tataagtagt gaacacacat gttatttact tcaaaagaca ggattgacaa attcagtcaa
     3121 tactatttta gagattctgt tagatgatat gtctgaccca aatttaatcc ataataaaaa
     3181 aaaatgggag attgttttca ggaattcagg gatgaaaaga aagaataatt tccattaagt
     3241 agaattccag ttgtctttct gtttctaaaa cacagaactt acaagagcca caggagccaa
     3301 ttatagcacc tgacagaata cttctcctct tcctcacctt cgggtgcctc tagacacttg
     3361 acttacgatc gttattcccc caattcatca tattttgttt gttatcacca gagatgcctg
     3421 aactcagtta agcgagcaat tgctagttgt cttgaggagc atgaggaatt caggagcaga
     3481 aggtcaggat agcatgagat agtctcaatg tggccaacca aaaggacaaa actgacagga
     3541 atgcacattc gattttcaag ccctccagag cttgaacaac aactttagga gtaaataaaa
     3601 gcctaaaata tattttaacc atccagagat ggtgttgaat ccttcaacaa atgtgtcatt
     3661 caaaacagta attagggaaa tcccacagat gaaaaatgcc ttagtgataa gctttcatgg
     3721 cagagcacgt caagataaat gggtatactg gaatccgatg ccgtttctac agtaaagtgc
     3781 aatcttcgtt gtttttgtat ttatttgtat gttcagatcc aaaggatccg ttgtaaaaat
     3841 atatatatat aaatatatgt atatccagtg caatcaactg tcatttcttt ttccttaaaa
     3901 catatgagta tatagaaaga aaagttacag tactctgtgg gaaaatctca gctgacatca
     3961 tgaatagaat gaggtctgct tcagaacctt ttgttgtcaa ctgtcactgt ttcttccaaa
     4021 agtcacaatt tgtacaagaa cctttgcttt ccttagactt gttctgcatt ttatttttta
     4081 tttctcacca aaataaaagc atttatgaga attataagta aagctttctg tatttcagag
     4141 agacataagt tactagaaag tgaaaagtga ataaataagt cacagagaat gtaaattttg
     4201 tacagtatta gaatgtgtaa atgaagcttg cttggaaggg gaaaacttta aataaaaact
     4261 ttatgtacta a
//
