LOCUS       NP_060114                600 aa            linear   PRI 06-OCT-2024
DEFINITION  kelch-like protein 24 isoform b [Homo sapiens].
ACCESSION   NP_060114
VERSION     NP_060114.2
DBSOURCE    REFSEQ: accession NM_017644.3
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  (residues 1 to 600)
  AUTHORS   Kosykh,A.V., Ryumina,I.I., Botkina,A.S., Evtushenko,N.A.,
            Zhigmitova,E.B., Martynova,A.A., Gurskaya,N.G. and Rebrikov,D.V.
  TITLE     EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
  JOURNAL   Int J Mol Sci 25 (5), 2989 (2024)
   PUBMED   38474236
  REMARK    GeneRIF: EBS in Children with De Novo Pathogenic Variants
            Disturbing Krt14.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 600)
  AUTHORS   Vermeer,M.C.S.C., Al-Shinnag,M., Sillje,H.H.W., Gaytan,A.E.,
            Murrell,D.F., McGaughran,J., Melbourne,W., Cowan,T., van den
            Akker,P.C., van Spaendonck-Zwarts,K.Y., van der Meer,P. and
            Bolling,M.C.
  TITLE     A translation re-initiation variant in KLHL24 also causes
            epidermolysis bullosa simplex and dilated cardiomyopathy via
            intermediate filament degradation
  JOURNAL   Br J Dermatol 187 (6), 1045-1048 (2022)
   PUBMED   35975634
  REMARK    GeneRIF: A translation re-initiation variant in KLHL24 also causes
            epidermolysis bullosa simplex and dilated cardiomyopathy via
            intermediate filament degradation.
REFERENCE   3  (residues 1 to 600)
  AUTHORS   Vermeer,M.C.S.C., Sillje,H.H.W., Pas,H.H., Andrei,D., van der
            Meer,P. and Bolling,M.C.
  TITLE     Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex
            due to KLHL24 Gain-of-Function Variants
  JOURNAL   J Invest Dermatol 142 (8), 2271-2274 (2022)
   PUBMED   35031308
  REMARK    GeneRIF: Keratin 14 Degradation and Aging in Epidermolysis Bullosa
            Simplex due to KLHL24 Gain-of-Function Variants.
REFERENCE   4  (residues 1 to 600)
  AUTHORS   Logli,E., Marzuolo,E., D'Agostino,M., Conti,L.A., Lena,A.M.,
            Diociaiuti,A., Dellambra,E., Has,C., Cianfanelli,V., Zambruno,G.,
            El Hachem,M., Magenta,A., Candi,E. and Condorelli,A.G.
  TITLE     Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by
            mutant KLHL24 in a foetal keratinocyte model: Novel insight in
            congenital skin defects and fragility of epidermolysis bullosa
            simplex with cardiomyopathy
  JOURNAL   Hum Mol Genet 31 (8), 1308-1324 (2022)
   PUBMED   34740256
  REMARK    GeneRIF: Proteasome-mediated degradation of keratins 7, 8, 17 and
            18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight
            in congenital skin defects and fragility of epidermolysis bullosa
            simplex with cardiomyopathy.
REFERENCE   5  (residues 1 to 600)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   6  (residues 1 to 600)
  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   7  (residues 1 to 600)
  AUTHORS   Wu,W., Guo,Z., Zhang,X., Guo,L., Liu,L., Liao,Y., Wang,J., Wang,L.
            and Li,Q.
  TITLE     A microRNA encoded by HSV-1 inhibits a cellular transcriptional
            repressor of viral immediate early and early genes
  JOURNAL   Sci China Life Sci 56 (4), 373-383 (2013)
   PUBMED   23512275
  REMARK    GeneRIF: Data show that a miRNA, hsv1-mir-H27, encoded within the
            genome of herpes simplex virus 1 (HSV-1), targets the mRNA of the
            cellular transcriptional repressor Kelch-like 24 (KLHL24).
REFERENCE   8  (residues 1 to 600)
  AUTHORS   Laezza,F., Wilding,T.J., Sequeira,S., Craig,A.M. and Huettner,J.E.
  TITLE     The BTB/kelch protein, KRIP6, modulates the interaction of PICK1
            with GluR6 kainate receptors
  JOURNAL   Neuropharmacology 55 (7), 1131-1139 (2008)
   PUBMED   18692513
  REMARK    GeneRIF: KRIP6 regulates kainate receptors by inhibiting PICK1
            modulation via competition or a mutual blocking effect
REFERENCE   9  (residues 1 to 600)
  AUTHORS   Laezza,F., Wilding,T.J., Sequeira,S., Coussen,F., Zhang,X.Z.,
            Hill-Robinson,R., Mulle,C., Huettner,J.E. and Craig,A.M.
  TITLE     KRIP6: a novel BTB/kelch protein regulating function of kainate
            receptors
  JOURNAL   Mol Cell Neurosci 34 (4), 539-550 (2007)
   PUBMED   17254796
REFERENCE   10 (residues 1 to 600)
  AUTHORS   So,J.Y. and Teng,J.
  TITLE     Epidermolysis Bullosa Simplex
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301543
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY422472.1 and AC068769.19.
            
            On Dec 18, 2003 this sequence version replaced NP_060114.1.
            
            Summary: The protein encoded by this gene is a ubiquitin ligase
            substrate receptor and is regulated by autoubiquitination.
            Variations in the translation initiation codon of this gene have
            been found, which result in an N-terminally truncated but more
            stable protein due to loss of the autoubiquitination function. The
            more stable mutant protein causes an increased ubiquitin and
            degradation of keratin 14, which leads to skin fragility and the
            potentially life-threatening disease epidermolysis bullosa. The
            encoded protein is also involved in the regulation of kainate
            receptors. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (7), as well as variants 8-15,
            encodes isoform b.
            
            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 :: AY422472.1, SRR1660809.211238.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242810.11/ ENSP00000242810.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..600
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     Protein         1..600
                     /product="kelch-like protein 24 isoform b"
                     /note="kainate receptor interacting protein for GluR6;
                     kelch-like protein 24; kelch-like 24"
                     /calculated_mol_wt=68230
     Region          48..168
                     /region_name="BTB_POZ_KLHL24_KRIP6"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in Kelch-like
                     protein 24 (KLHL24); cd18253"
                     /db_xref="CDD:349562"
     Region          62..566
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          314..363
                     /region_name="Kelch 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TFL4.1)"
     Region          354..393
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          365..407
                     /region_name="Kelch 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TFL4.1)"
     Region          397..441
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          408..454
                     /region_name="Kelch 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TFL4.1)"
     Region          444..489
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          456..502
                     /region_name="Kelch 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TFL4.1)"
     Region          492..529
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          504..544
                     /region_name="Kelch 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TFL4.1)"
     Region          536..578
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          545..591
                     /region_name="Kelch"
                     /note="Kelch domain; smart00612"
                     /db_xref="CDD:128874"
     Region          546..592
                     /region_name="Kelch 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6TFL4.1)"
     CDS             1..600
                     /gene="KLHL24"
                     /gene_synonym="CMH29; DRE1; EBS6; EBSSH; KRIP6"
                     /coded_by="NM_017644.3:296..2098"
                     /note="isoform b is encoded by transcript variant 7"
                     /db_xref="CCDS:CCDS3246.1"
                     /db_xref="GeneID:54800"
                     /db_xref="HGNC:HGNC:25947"
                     /db_xref="MIM:611295"
ORIGIN      
        1 mvlilgrrln redlgvrdsp atkrkvfemd pksltgheff dfssgsshae nilqifnefr
       61 dsrlftdvii cvegkefpch ravlsacssy framfcndhr esremlvein gilaeamecf
      121 lqyvytgkvk ittenvqylf etsslfqisv lrdacakfle eqldpcnclg iqrfadthsl
      181 ktlftkcknf alqtfedvsq heefleldkd elidyicsde lvigkeemvf eavmrwvyra
      241 vdlrrpllhe llthvrlpll hpnyfvqtve vdqliqnspe cyqllhearr yhilgnemms
      301 prtrprrstg ysevivvvgg cervggfnlp ytecydpvtg ewkslaklpe ftkseyavca
      361 lrndilvsgg rinsrdvwiy nsqlniwirv aslnkgrwrh kmavllgkvy vvggydgqnr
      421 lssvecydsf snrwtevapl keavsspavt scvgklfvig ggpddntcsd kvqsydpetn
      481 swllraaipi akrcitavsl nnliyvaggl tkaiycydpv edywmhvqnt fsrqencgms
      541 vcngkiyilg grrengeatd tilcydpats iitgvaampr pvsyhgcvti hrynekcfkl
//
