LOCUS       NM_152467               2012 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens kelch like family member 10 (KLHL10), transcript
            variant 2, mRNA.
ACCESSION   NM_152467
VERSION     NM_152467.5
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 2012)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2012)
  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 2012)
  AUTHORS   Qiu,Q.M., Liu,G., Li,W.N., Shi,Q.W., Zhu,F.X. and Lu,G.X.
  TITLE     [Mutation of KLHL-10 in idiopathic infertile males with
            azoospermia, oligospermia or asthenospermia]
  JOURNAL   Zhonghua Nan Ke Xue 15 (11), 974-979 (2009)
   PUBMED   20218307
  REMARK    GeneRIF: The KLHL-10 gene is not a major contributor to
            azoospermia, oligospermia or asthenospermia in Chinese population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2012)
  AUTHORS   Yatsenko,A.N., Roy,A., Chen,R., Ma,L., Murthy,L.J., Yan,W.,
            Lamb,D.J. and Matzuk,M.M.
  TITLE     Non-invasive genetic diagnosis of male infertility using
            spermatozoal RNA: KLHL10 mutations in oligozoospermic patients
            impair homodimerization
  JOURNAL   Hum Mol Genet 15 (23), 3411-3419 (2006)
   PUBMED   17047026
REFERENCE   5  (bases 1 to 2012)
  AUTHORS   Yan,W., Ma,L., Burns,K.H. and Matzuk,M.M.
  TITLE     Haploinsufficiency of kelch-like protein homolog 10 causes
            infertility in male mice
  JOURNAL   Proc Natl Acad Sci U S A 101 (20), 7793-7798 (2004)
   PUBMED   15136734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY495339.1 and AC125257.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_152467.4.
            
            Summary: The protein encoded by this gene belongs to the kelch
            repeat-containing family, and contains an N-terminal BTB/POZ domain
            a BACK domain and six C-terminal kelch repeats. Kelch domains are
            thought to form a four stranded beta-sheet blade structure that can
            fold into a beta-propeller domain when multiple kelch repeats are
            found together. Mutations in this gene have been associated with
            oligozoospermia in some infertile males. [provided by RefSeq, Jul
            2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein
            (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.362446.1, HM005417.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293303.5/ ENSP00000293303.4
            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
            1-1996              AY495339.1         17-2012
            1997-2012           AC125257.4         13058-13073
FEATURES             Location/Qualifiers
     source          1..2012
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2012
                     /gene="KLHL10"
                     /gene_synonym="SPGF11"
                     /note="kelch like family member 10"
                     /db_xref="GeneID:317719"
                     /db_xref="HGNC:HGNC:18829"
                     /db_xref="MIM:608778"
     exon            1..302
                     /gene="KLHL10"
                     /gene_synonym="SPGF11"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..1935
                     /gene="KLHL10"
                     /gene_synonym="SPGF11"
                     /note="isoform 1 is encoded by transcript variant 2;
                     kelch-like protein 10; testicular tissue protein Li 104"
                     /codon_start=1
                     /product="kelch-like protein 10 isoform 1"
                     /protein_id="NP_689680.2"
                     /db_xref="CCDS:CCDS42340.1"
                     /db_xref="GeneID:317719"
                     /db_xref="HGNC:HGNC:18829"
                     /db_xref="MIM:608778"
                     /translation="MEMESAAASTRFHQPHMERKMSAMACEIFNELRLEGKLCDVVIK
                     VNGFEFSAHKNILCSCSSYFRALFTSGWNNTEKKVYNIPGISPDMMKLIIEYAYTRTV
                     PITPDNVEKLLAAADQFNIMGIVRGCCEFLKSELCLDNCIGICKFTDYYYCPELRQKA
                     YMFILHNFEEMVKVSAEFLELSVTELKDIIEKDELNVKQEDAVFEAILKWISHDPQNR
                     KQHISILLPKVRLALMHAEYFMNNVKMNDYVKDSEECKPVIINALKAMYDLNMNGPSN
                     SDFTNPLTRPRLPYAILFAIGGWSGGSPTNAIEAYDARADRWVNVTCEEESPRAYHGA
                     AYLKGYVYIIGGFDSVDYFNSVKRFDPVKKTWHQVAPMHSRRCYVSVTVLGNFIYAMG
                     GFDGYVRLNTAERYEPETNQWTLIAPMHEQRSDASATTLYGKVYICGGFNGNECLFTA
                     EVYNTESNQWTVIAPMRSRRSGIGVIAYGEHVYAVGGFDGANRLRSAEAYSPVANTWR
                     TIPTMFNPRSNFGIEVVDDLLFVVGGFNGFTTTFNVECYDEKTDEWYDAHDMSIYRSA
                     LSCCVVPGLANVEEYAARRDNFPGLALRDEVKYSASTSTLPV"
     exon            303..792
                     /gene="KLHL10"
                     /gene_synonym="SPGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            793..1410
                     /gene="KLHL10"
                     /gene_synonym="SPGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..1560
                     /gene="KLHL10"
                     /gene_synonym="SPGF11"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..2012
                     /gene="KLHL10"
                     /gene_synonym="SPGF11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1952..1957
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHL10"
                     /gene_synonym="SPGF11"
                     /note="hexamer: AATAAA"
     polyA_site      1972
                     /gene="KLHL10"
                     /gene_synonym="SPGF11"
                     /note="major polyA site"
ORIGIN      
        1 atacaaaaga tgtagtaggg aaaaggagcg acagctggct aaaggggccc cccacaaccc
       61 tccccgacac cctaggaaag cagcctctct ccgctgtccc agggtgccat ggagatggag
      121 agcgcggcgg cctccacacg tttccaccag cctcacatgg agaggaagat gagtgcgatg
      181 gcctgtgaga tcttcaacga gcttagacta gagggcaagc tctgcgacgt ggtcatcaag
      241 gtcaatggct ttgagttcag tgcccataag aacatcctct gtagctgcag ttcctacttt
      301 agagctttgt ttacaagtgg ctggaacaac actgaaaaga aggtatacaa catccctggc
      361 atttctcccg acatgatgaa gctaatcatt gagtatgcat acacccggac cgtgcctatc
      421 acaccggaca atgtggagaa actgcttgct gctgcagacc agtttaacat catgggtatc
      481 gtcaggggtt gctgcgagtt cctcaagtca gagctgtgct tggataattg tatcggcatc
      541 tgtaagttca cggactacta ctactgtcct gagctgaggc agaaggccta catgttcata
      601 ctgcacaact ttgaggagat ggtgaaagtc tcggcagaat ttttagagct ctcggtcact
      661 gaacttaagg atatcattga gaaagatgag ctcaatgtca aacaggaaga tgctgtattt
      721 gaggccattt taaagtggat ttctcatgac ccccaaaata gaaagcagca catttcaatt
      781 ttgcttccta aggttcgcct ggccctaatg catgctgagt acttcatgaa caatgttaag
      841 atgaatgact atgtcaaaga cagtgaggaa tgcaaaccag tcatcattaa tgccctaaag
      901 gccatgtatg acctcaacat gaatggaccc tctaattctg atttcaccaa cccactcacc
      961 agaccacgct tgccctatgc catcctcttt gcaattggtg gctggagtgg tgggagcccc
     1021 accaatgcca ttgaggcata tgacgctcgg gcagacagat gggtgaatgt tacttgtgag
     1081 gaagagagtc cccgtgccta ccatggggca gcctatttga aaggctatgt gtatatcatt
     1141 ggggggtttg atagtgtaga ctatttcaat agtgttaagc gttttgaccc agtcaagaaa
     1201 acttggcatc aggtggcccc gatgcactcc agacgttgct atgtcagtgt gacagtcctc
     1261 ggcaatttta tttatgccat gggaggattt gatggctacg tgcgtctaaa cactgctgaa
     1321 cgttatgagc cagagaccaa tcaatggaca ctcatcgccc ccatgcacga acagaggagt
     1381 gatgcaagcg ccacaacact ttatgggaag gtctacatat gtggtgggtt taatggaaac
     1441 gagtgcctgt tcacagcaga agtgtataac actgaaagta atcagtggac agtcatagca
     1501 cccatgagaa gcaggaggag tggaataggc gtgattgctt atggagaaca tgtatatgcg
     1561 gtaggtggct ttgatggagc taatcgactt aggagtgccg aagcctacag ccctgtggct
     1621 aacacttggc gcacaatccc cactatgttt aatcctcgta gcaattttgg catcgaggtg
     1681 gtggatgacc tcttgtttgt ggtgggtggc tttaatggtt ttaccaccac ctttaatgtt
     1741 gagtgctatg atgaaaagac cgatgagtgg tatgatgctc atgacatgag tatataccgc
     1801 agtgctctga gctgctgtgt agtaccaggg ctggccaatg ttgaggaata tgcagctaga
     1861 cgggacaact tcccaggatt agcactgcga gatgaagtaa aatattctgc ttcgacaagt
     1921 accctacctg tatgagcctc ttcatttagc taataaaaag tctaagcaat aagaattaat
     1981 tcttttttta aaaaaatgca gtgtttaaac tt
//
