LOCUS       NM_020866               4105 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens kelch like family member 1 (KLHL1), transcript variant
            1, mRNA.
ACCESSION   NM_020866
VERSION     NM_020866.3
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 4105)
  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   2  (bases 1 to 4105)
  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   3  (bases 1 to 4105)
  AUTHORS   Sood,R.F., Westenberg,R.F., Winograd,J.M., Eberlin,K.R. and
            Chen,N.C.
  TITLE     Genetic Risk of Trigger Finger: Results of a Genomewide Association
            Study
  JOURNAL   Plast Reconstr Surg 146 (2), 165e-176e (2020)
   PUBMED   32740585
  REMARK    GeneRIF: Genetic Risk of Trigger Finger: Results of a Genomewide
            Association Study.
REFERENCE   4  (bases 1 to 4105)
  AUTHORS   Mena,E.L., Kjolby,R.A.S., Saxton,R.A., Werner,A., Lew,B.G.,
            Boyle,J.M., Harland,R. and Rape,M.
  TITLE     Dimerization quality control ensures neuronal development and
            survival
  JOURNAL   Science 362 (6411) (2018)
   PUBMED   30190310
REFERENCE   5  (bases 1 to 4105)
  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 4105)
  AUTHORS   Aromolaran,K.A., Benzow,K.A., Cribbs,L.L., Koob,M.D. and
            Piedras-Renteria,E.S.
  TITLE     T-type current modulation by the actin-binding protein Kelch-like 1
  JOURNAL   Am J Physiol Cell Physiol 298 (6), C1353-C1362 (2010)
   PUBMED   20147652
  REMARK    GeneRIF: KLHL1 interacts with Cav3.2 and modulates T-type calcium
            currents by increasing current deactivation kinetics and current
            density and calcium influx.
REFERENCE   7  (bases 1 to 4105)
  AUTHORS   Chen,W.L., Lin,J.W., Huang,H.J., Wang,S.M., Su,M.T., Lee-Chen,G.J.,
            Chen,C.M. and Hsieh-Li,H.M.
  TITLE     SCA8 mRNA expression suggests an antisense regulation of KLHL1 and
            correlates to SCA8 pathology
  JOURNAL   Brain Res 1233, 176-184 (2008)
   PUBMED   18708037
  REMARK    GeneRIF: KLHL1 was expressed in human brain and kidney, but was
            also in other tissues, such as prostate gland, small intestine,
            colon, testis (but not the ovaries), liver and pancreas.
REFERENCE   8  (bases 1 to 4105)
  AUTHORS   Aromolaran,K.A., Benzow,K.A., Koob,M.D. and Piedras-Renteria,E.S.
  TITLE     The Kelch-like protein 1 modulates P/Q-type calcium current density
  JOURNAL   Neuroscience 145 (3), 841-850 (2007)
   PUBMED   17289272
  REMARK    GeneRIF: modulatory effect of KLHL1 on the P/Q-type calcium channel
            function, suggesting a possible novel role for KLHL1 in cellular
            excitability.
REFERENCE   9  (bases 1 to 4105)
  AUTHORS   Seng,S., Avraham,H.K., Jiang,S., Venkatesh,S. and Avraham,S.
  TITLE     KLHL1/MRP2 mediates neurite outgrowth in a glycogen synthase kinase
            3beta-dependent manner
  JOURNAL   Mol Cell Biol 26 (22), 8371-8384 (2006)
   PUBMED   16982692
  REMARK    GeneRIF: This study provides, for the first time, insights into the
            involvement of MRP2 in neurite outgrowth, which occurs in a
            GSK3beta-dependent manner.
REFERENCE   10 (bases 1 to 4105)
  AUTHORS   Nemes,J.P., Benzow,K.A., Moseley,M.L., Ranum,L.P. and Koob,M.D.
  TITLE     The SCA8 transcript is an antisense RNA to a brain-specific
            transcript encoding a novel actin-binding protein (KLHL1)
  JOURNAL   Hum Mol Genet 9 (10), 1543-1551 (2000)
   PUBMED   10888605
  REMARK    Erratum:[Hum Mol Genet 2000 Nov 1;9(18):2777]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK291435.1, AF252283.1 and BC022460.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020866.2.
            
            Summary: The KLHL1 protein belongs to a family of actin-organizing
            proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed
            10888605]).[supplied by OMIM, Feb 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC022460.1, AB040923.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465402, SAMN03465404
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377844.9/ ENSP00000367075.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-628               AK291435.1         42-669
            629-3882            AF252283.1         504-3757
            3883-4105           BC022460.1         3167-3389
FEATURES             Location/Qualifiers
     source          1..4105
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q21.33"
     gene            1..4105
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /note="kelch like family member 1"
                     /db_xref="GeneID:57626"
                     /db_xref="HGNC:HGNC:6352"
                     /db_xref="MIM:605332"
     exon            1..1250
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             754..3000
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Mayven-related protein 2; Kelch-like protein 1"
                     /codon_start=1
                     /product="kelch-like protein 1 isoform 1"
                     /protein_id="NP_065917.1"
                     /db_xref="CCDS:CCDS9445.1"
                     /db_xref="GeneID:57626"
                     /db_xref="HGNC:HGNC:6352"
                     /db_xref="MIM:605332"
                     /translation="MSGSGRKDFDVKHILRLRWKLFSHPSPSTGGPAGGGCLQQDGSG
                     SFEHWGPSQSRLLKSQERSGVSTFWKKPSSSSSSSSSPSSSSSSFNPLNGTLLPVATR
                     LQQGAPGQGTQQPARTLFYVESLEEEVVPGMDFPGPHEKGLVLQELKVEPDNSSQATG
                     EGCGHRLSSTGHSMTPQSDLDSSSSEEFYQAVHHAEQTFRKMESYLKQQQLCDVILIV
                     GNRKIPAHRLVLSSVSDYFAAMFTSDVCEAKQEEIKMEGIDPNALWDLVQFAYTGCLE
                     LKEDTIENLLAAACLLQLPQVVEVCCHFLMKLLHPSNCLGIRAFADAQGCIELMKVAH
                     SYTMENIMEVIRNQEFLLLPAEELHKLLASDDVNVPDEETIFHALMMWVKYDMQSRCN
                     DLSMLLAFIRLPLLPPQILADLENHALFKNDLECQKLILEAMKYHLLPERRTLMQSPR
                     TKPRKSTVGTLYAVGGMDNNKGATTIEKYDLRTNLWIQAGMMNGRRLQFGVAVIDDKL
                     FVIGGRDGLKTLNTVECYNPKTKTWTVLPPMSTHRHGLGVTVLEGPIYAVGGHDGWSY
                     LNTVERWDPQSQQWTFVASMSIARSTVGVAALNGKLYSVGGRDGSSCLSSMEYYDPHT
                     NKWNMCAPMCKRRGGVGVATCDGFLYAVGGHDAPASNHCSRLLDYVERYDPKTDTWTM
                     VAPLSMPRDAVGVCLLGDRLYAVGGYDGQTYLNTMESYDPQTNEWTQMASLNIGRAGA
                     CVVVIKQP"
     exon            1251..1433
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1570
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..1767
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1768..1980
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1981..2167
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2168..2392
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2393..2555
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2556..2768
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2769..2940
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2941..4105
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4083..4088
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /note="hexamer: AATAAA"
     polyA_site      4105
                     /gene="KLHL1"
                     /gene_synonym="MRP2"
                     /note="major polyA site"
ORIGIN      
        1 gtactgtgag gaccttgaca gcttcacagg cgggcttttt cttttgcctc cctatatgcg
       61 ctagaatatc tatttttctc ttttacaaac tgactatata aaaccacctc ttctggcatt
      121 gcagaaagca attgactttc tcagagccac ccggcaggct atcggggcat cctcgaaaag
      181 gccagggaca ggggcgcagg tgcaccaaga gatctggcga ggggtacgct tcctcgagac
      241 ttggggctct ttctctctgc gctctccaga cactgaactc tgagctgcaa ggacaagaac
      301 gccaccacct tccctactaa ggctctgcca caagcgcatc ccagtgaggt gtatccagct
      361 gcagccgcct ccggagcttc ggagcgctca gacctccctc cctcgcgcat ctccagccta
      421 agggttgtcc cacctcgcca taacacgggg ctctcgcgcg ggcatcgagg attctcagct
      481 tttggcgtcc cagtcctgcc tctgctcctg cctggtggtg tccccacgcc caggtcctgc
      541 ggacccgacc acggctgaaa cgcgcggctt tgccgtctgc gctccagcct tcgcctggca
      601 gagcgcgcag cccacctagc gtcttctggc tctaggggtg cagagggcgc atcccgcctc
      661 ttcctccgcc cccgggcccc gctgtcctcc cccacctgct gaccagccta ctcctgcgtg
      721 agctgccagc cttttgcctt ctgtgcgtaa agcatgtcag gctctgggcg aaaagacttc
      781 gatgtgaagc acattctgcg actccgctgg aaactcttca gccacccgtc tccttccacc
      841 ggcggcccgg cggggggagg ctgcctgcaa caggacggca gtggcagctt tgagcactgg
      901 ggacccagcc agagtcgcct gctcaaaagc caagagagaa gcggtgtgag cactttctgg
      961 aagaagcctt cctcctcttc ctcttcatcg tcctccccgt cctcttcctc ctcttccttc
     1021 aatccgctga atggcaccct gcttccagtt gccacgaggc tgcagcaagg ggctcctggg
     1081 cagggcactc agcagccagc caggactctc ttctacgtgg agtcactaga ggaggaggtg
     1141 gtgccaggca tggactttcc tggaccacac gaaaaagggc tggttctgca agagctcaaa
     1201 gtggagccag acaactctag ccaggcaaca ggtgaaggat gtggacacag gctgtcatca
     1261 accggccatt caatgacacc tcaaagtgat ttggactcca gtagctctga agaattctat
     1321 caagctgttc atcatgctga gcaaaccttc agaaagatgg aaagttattt gaagcagcag
     1381 caactttgtg atgttatcct gattgttggg aaccgaaaga tacctgcaca taggcttgtt
     1441 ctgagttcag tctccgacta ttttgcggcc atgtttacaa gtgatgtttg tgaagccaag
     1501 caagaggaga tcaaaatgga aggcatagac cccaatgctc tctgggacct tgtccaattt
     1561 gcatatacag gctgcttgga attaaaagag gacaccattg agaaccttct tgctgcagcg
     1621 tgccttcttc agcttccaca ggtggtggaa gtgtgctgcc acttcctcat gaagcttttg
     1681 catccatcta actgtttagg aattcgagcc ttcgcagatg ctcaaggatg cattgagtta
     1741 atgaaggtgg cccacagcta cacaatggaa aacataatgg aagttatcag aaatcaagag
     1801 tttttactcc ttccagctga ggagctccat aaactactgg ccagtgatga tgtcaatgtt
     1861 cctgatgaag aaaccatctt ccatgcattg atgatgtggg tcaagtatga catgcagagt
     1921 agatgcaatg acctgagcat gcttcttgcc tttataagac tgccactgct tccaccacag
     1981 atattggctg acctagaaaa tcatgcatta tttaagaatg atctggaatg tcaaaagctg
     2041 attctagaag caatgaaata ccatctattg ccagaaagaa gaactttaat gcaaagtccg
     2101 agaactaaac ccagaaaatc tacagtcgga actttgtatg ctgtaggagg aatggataac
     2161 aacaaaggag ctacaactat agagaaatat gatctgagaa caaatctgtg gatccaggca
     2221 gggatgatga atggcagaag gctgcagttt ggtgtggctg ttattgatga caaactcttt
     2281 gtaattggag gtcgagatgg cttaaagaca ttgaacactg ttgaatgtta caatcccaaa
     2341 accaagacat ggactgtctt accaccaatg tcaacacaca gacatggtct aggtgtaaca
     2401 gtacttgaag gccctattta tgctgtggga ggccatgatg gctggagcta tctgaataca
     2461 gtggaaaggt gggatccaca gagtcaacaa tggacatttg tagccagtat gtcaattgct
     2521 cggagcacag ttggtgtagc agcattgaat ggcaagttgt attcagttgg aggtcgtgat
     2581 ggaagttcct gtttgagttc aatggaatat tatgatcctc atacaaataa gtggaacatg
     2641 tgtgctccca tgtgtaagag gagagggggt gtcggagtgg ccacatgtga cggttttctt
     2701 tatgcagtag gaggtcatga tgctcctgct tcaaatcact gttcccggct actggattat
     2761 gtagaaagat atgatcccaa aacagacact tggaccatgg tggctccttt gagtatgccc
     2821 agagatgctg ttggggtctg tctccttggt gacagattat atgctgttgg tggctatgat
     2881 ggacagacat acctcaacac tatggaatcc tatgacccac aaactaatga gtggacacag
     2941 atggcttcct tgaatattgg gagagcaggt gcctgtgtgg tagtcatcaa gcaaccttga
     3001 cttattgata ttttacttgg aaagatttta cttgctggag tggttatttt tatattgaat
     3061 ggcaagaatg agaacttcca gagatgaaaa ctcttcaaga acaaggatct ctgtagcgtt
     3121 acctactgat gttgaaagag ttagtagatc aaacagaata gtaggaaaca agaaaacatt
     3181 aaacttatac aggaaaaatg tctggccata tgttagttag ttcgggaatg gttattggta
     3241 atttgttttg tattatagca tacaataact agagttacca aaggcttgtt ttttcttgag
     3301 cagttgaaag gagagaccaa tatttgtgac atggatagtt tcatgaccac aactcattca
     3361 atcattttat agtctatggc aatatccaag agattgccaa gagtagaaga cagaatattt
     3421 catctgacag tatctgattg gtttactgtt tttctaatca tatgtggtca taacgggaag
     3481 cagaattatg ctttattcaa acaaacctgc ttctgcctca ttttcctaag ctatgagaac
     3541 aattagagaa acagattcat gcttgtatct tgcattcaga aaacaaactg tcctactaat
     3601 caaagctgca tatctcatca gagataatgg ttgaatttta ttgcaaccat attggcaatc
     3661 tgaaactggc aaacacaaag gattgttttc actaggctta ccattttgct ttgctttttt
     3721 aacacactga gccaaagatg cagtgtaatt attgggcttt tgccttatgt tgagttcagt
     3781 gtaagcatgg aagctagtga ttctgaatga tatatatatc cattgcatgt tgaactcctt
     3841 tagaattttg ttcttaaaca aacttagaat ttcaaaagaa aaacatatga tccattaagt
     3901 tggagtgttt atgattattg ctagaaagaa ggcagacttc atattctcat cgcccatttt
     3961 tcaaacttgt tacattgatc tgtacattat tttaagccac atgtttgtaa ttgtttaaaa
     4021 caaagtggaa acattacaca atgtccttaa taaataggcc catgtaaatt ttaattacaa
     4081 ttaataaatg atcaaaaaat ttgca
//
