LOCUS       NM_198317               2567 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens kelch like family member 17 (KLHL17), mRNA.
ACCESSION   NM_198317 XM_290904
VERSION     NM_198317.3
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 2567)
  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   2  (bases 1 to 2567)
  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   3  (bases 1 to 2567)
  AUTHORS   Bohm,D., Keller,K., Pieter,J., Boehm,N., Wolters,D., Siggelkow,W.,
            Lebrecht,A., Schmidt,M., Kolbl,H., Pfeiffer,N. and Grus,F.H.
  TITLE     Comparison of tear protein levels in breast cancer patients and
            healthy controls using a de novo proteomic approach
  JOURNAL   Oncol Rep 28 (2), 429-438 (2012)
   PUBMED   22664934
REFERENCE   4  (bases 1 to 2567)
  AUTHORS   Chen,Y., Derin,R., Petralia,R.S. and Li,M.
  TITLE     Actinfilin, a brain-specific actin-binding protein in postsynaptic
            density
  JOURNAL   J Biol Chem 277 (34), 30495-30501 (2002)
   PUBMED   12063253
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL645608.30, AY423763.1,
            AA774437.1 and CA432461.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_198317.2.
            
            Summary: The protein encoded by this gene is expressed in neurons
            of most regions of the brain. It contains an N-terminal BTB domain,
            which mediates dimerization of the protein, and a C-terminal Kelch
            domain, which mediates binding to F-actin. This protein may play a
            key role in the regulation of actin-based neuronal function.
            [provided by RefSeq, Aug 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY423763.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338591.8/ ENSP00000343930.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AL645608.30        84434-84436
            4-2439              AY423763.1         1-2436
            2440-2495           AA774437.1         77-132              c
            2496-2567           CA432461.1         18-89               c
FEATURES             Location/Qualifiers
     source          1..2567
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..2567
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /note="kelch like family member 17"
                     /db_xref="GeneID:339451"
                     /db_xref="HGNC:HGNC:24023"
                     /db_xref="MIM:619262"
     exon            1..217
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..2039
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /note="actinfilin; kelch-like 17"
                     /codon_start=1
                     /product="kelch-like protein 17"
                     /protein_id="NP_938073.1"
                     /db_xref="CCDS:CCDS30550.1"
                     /db_xref="GeneID:339451"
                     /db_xref="HGNC:HGNC:24023"
                     /db_xref="MIM:619262"
                     /translation="MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRP
                     RQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKE
                     IRAHKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEG
                     NVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLLKAAHRYVL
                     QHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPR
                     LMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEALKFHLLPEQRGVLGTSRTRP
                     RRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLY
                     AVGGYDGTSDLATVESYDPVTNTWQPEVSMGTRRSCLGVAALHGLLYSAGGYDGASCL
                     NSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVN
                     VWSPVASMLSRRSSAGVAVLEGALYVAGGNDGTSCLNSVERYSPKAGAWESVAPMNIR
                     RSTHDLVAMDGWLYAVGGNDGSSSLNSIEKYNPRTNKWVAASCMFTRRSSVGVAVLEL
                     LNFPPPSSPTLSVSSTSL"
     exon            218..477
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            478..599
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            600..821
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            822..938
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1152
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1297
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1465
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..1554
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1628
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            1629..1810
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..2567
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2542..2547
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /note="hexamer: AATAAA"
     polyA_site      2567
                     /gene="KLHL17"
                     /gene_synonym="AF"
                     /note="major polyA site"
ORIGIN      
        1 gggagtgagc gacacagagc gggccgccac cgccgagcag ccctccggca gtctccgcgt
       61 ccgttaagcc cgcgggtcct ccgcgaatcg gcggtgggtc cggcagccga atgcagcccc
      121 gcagcgagcg cccggccggc aggacgcaga gcccggagca cggcagcccg gggcccgggc
      181 ccgaggcgcc gccgcctcca ccgccgcagc cgccggcccc cgaggcagag cgcacgcggc
      241 cccggcaggc tcggcccgca gcccccatgg agggagccgt gcagctgctg agccgcgagg
      301 gccacagcgt ggcccacaac tccaagcggc actaccacga tgccttcgtg gccatgagcc
      361 gcatgcgcca gcgcggcctc ctgtgcgaca tcgtcctgca cgtggctgcc aaggagatcc
      421 gtgcgcacaa agtggtgctg gcctcctgca gcccctactt ccacgccatg ttcacaaatg
      481 agatgagcga gagccgccag acccacgtga cgctgcacga catcgaccct caggccttgg
      541 accagctggt gcagtttgcc tacacggctg agattgtggt gggcgagggc aatgtgcaga
      601 ctctgctccc agccgccagt ctcctgcagc tgaatggcgt ccgagacgct tgctgcaagt
      661 ttctactgag tcagctcgac ccctccaact gcctgggtat ccggggcttt gccgatgcgc
      721 actcctgcag cgacctgctc aaggccgccc acaggtacgt gctgcagcac ttcgtggacg
      781 tggccaagac cgaggagttt atgctgctgc ccctgaaaca ggttctggaa ctggtctcta
      841 gcgacagcct gaacgtgcct tcagaggagg aggtctaccg agccgtcctg agctgggtga
      901 aacacgacgt ggacgcccgc aggcagcatg tcccacggct catgaagtgt gtgcggctgc
      961 ccttgctgag ccgcgacttc ctgctgggcc acgtggatgc cgagagcctg gtgaggcacc
     1021 accctgactg caaggacctc ctcatcgagg ccctgaagtt ccacctgctg cctgagcaga
     1081 ggggcgtcct aggcaccagc cgcacacgtc cccggcgctg cgagggggcc gggcctgtgc
     1141 tttttgctgt gggcggcggg agcctgtttg ccatccacgg agactgtgag gcctacgaca
     1201 cgcgcaccga ccgctggcac gtggtggcct ccatgtccac gcgccgggcc cgggtgggag
     1261 tggctgcggt ggggaaccgg ctctatgctg tgggcggcta tgatgggacc tcagacctgg
     1321 ctaccgtgga gtcctacgac cccgtgacta acacgtggca gccggaggtg tccatgggca
     1381 caaggcgaag ctgcctgggt gtggccgcct tgcatggact cctgtactcg gccggcggct
     1441 atgacggggc ctcctgcctg aacagtgctg aacgctacga ccccctgacc ggaacgtgga
     1501 cgtccgtcgc tgccatgagc acccggaggc gctatgtgcg agtggccacg cttgatggga
     1561 acctgtatgc tgtgggcggc tacgacagct cctcacacct ggccactgtg gagaagtatg
     1621 agccccaggt gaacgtgtgg tcgcccgtgg cgtccatgct gagccgacgc agctcagcgg
     1681 gcgtggccgt gctggagggt gccctgtacg tggcaggggg caacgacggc accagctgcc
     1741 tcaactcggt agagagatac agtccaaagg ctggagcctg ggaaagcgtg gcgcccatga
     1801 atatccgcag gagcacgcat gacctggtgg ccatggacgg atggttgtac gccgtggggg
     1861 gtaacgacgg tagctccagc ctcaactcca tcgagaagta caacccgagg accaacaagt
     1921 gggtggccgc atcctgcatg ttcacccggc gcagcagtgt gggtgtggcg gtgctggagc
     1981 tgctcaattt cccgccgcca tcctccccga cgctgtccgt gtcctccacc agcctctgac
     2041 ccacctacca ccagaggcct gcagcctccc acatgcctta aggggaccgt ggcccccacc
     2101 agggacgtcc tgcgccatcc gttcacgtct ctgcatccat tccttcatgt ctttatttag
     2161 ttgtttattt atttagttat ttatcttatt tattgagggg tgaggagtgc cacggctgcc
     2221 cgtttacacc tttagcgtct ggtcctcctg cgtgtcctcc cctccactgc ctgcatgggg
     2281 ggcgcgggga gtgaccaggc gggggcctca ccgccccagg gccgttgcct gctcagacct
     2341 tgcaggctgt ggagcaagag gccctgggtc tctccaagca gctgcagacc ccagctcgaa
     2401 ttttgcacat ggcggggtcc cgggaagggt ggggagcagt tgtccttcct gtcgtcgtct
     2461 gccgtgtgcc atctttcctg gatcttgtag tgggtgcaca cgcgtgcact gggaccccac
     2521 acagcaatac gagtccaact taataaacac atttctgggg ttcctca
//
