LOCUS       NP_061990                718 aa            linear   PRI 28-APR-2025
DEFINITION  kelch-like protein 4 isoform 1 [Homo sapiens].
ACCESSION   NP_061990
VERSION     NP_061990.2
DBSOURCE    REFSEQ: accession NM_019117.5
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  (residues 1 to 718)
  AUTHORS   Choi,S.H., Cho,S.Y., Song,J. and Hur,M.W.
  TITLE     KLHL4, a novel p53 target gene, inhibits cell proliferation by
            activating p21WAF/CDKN1A
  JOURNAL   Biochem Biophys Res Commun 530 (3), 588-596 (2020)
   PUBMED   32753315
  REMARK    GeneRIF: KLHL4, a novel p53 target gene, inhibits cell
            proliferation by activating p21(WAF/CDKN1A).
REFERENCE   2  (residues 1 to 718)
  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  (residues 1 to 718)
  AUTHORS   Cheroki,C., Krepischi-Santos,A.C., Szuhai,K., Brenner,V., Kim,C.A.,
            Otto,P.A. and Rosenberg,C.
  TITLE     Genomic imbalances associated with mullerian aplasia
  JOURNAL   J Med Genet 45 (4), 228-232 (2008)
   PUBMED   18039948
REFERENCE   4  (residues 1 to 718)
  AUTHORS   Braybrook,C., Warry,G., Howell,G., Mandryko,V., Arnason,A.,
            Bjornsson,A., Ross,M.T., Moore,G.E. and Stanier,P.
  TITLE     Physical and transcriptional mapping of the X-linked cleft palate
            and ankyloglossia (CPX) critical region
  JOURNAL   Hum Genet 108 (6), 537-545 (2001)
   PUBMED   11499681
REFERENCE   5  (residues 1 to 718)
  AUTHORS   Braybrook,C., Warry,G., Howell,G., Arnason,A., Bjornsson,A.,
            Moore,G.E., Ross,M.T. and Stanier,P.
  TITLE     Identification and characterization of KLHL4, a novel human
            homologue of the Drosophila Kelch gene that maps within the
            X-linked cleft palate and Ankyloglossia (CPX) critical region
  JOURNAL   Genomics 72 (2), 128-136 (2001)
   PUBMED   11401425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z95400.2, AF284765.1,
            BC161675.1 and AL121884.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 20, 2001 this sequence version replaced NP_061990.1.
            
            Summary: This gene encodes a member of the kelch family of
            proteins, which are characterized by kelch repeat motifs and a
            POZ/BTB protein-binding domain. It is thought that kelch repeats
            are actin binding domains. However, the specific function of this
            protein has not been determined. Alternative splicing of this gene
            results in two transcript variants encoding different isoforms.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) uses an alternate last exon as
            compared to variant 2, resulting in a frameshift and use of a
            different stop codon. The encoded isoform (1) is 2 aa shorter than
            isoform 2 and has a distinct C-terminus.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The extent of this RefSeq
            transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC161675.1, SRR1660807.33341.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373119.9/ ENSP00000362211.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..718
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.31"
     Protein         1..718
                     /product="kelch-like protein 4 isoform 1"
                     /note="kelch-like protein 4"
                     /calculated_mol_wt=80115
     Region          46..69
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H6.2)"
     Region          176..698
                     /region_name="PHA03098"
                     /note="kelch-like protein; Provisional"
                     /db_xref="CDD:222983"
     Region          430..476
                     /region_name="Kelch 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H6.2)"
     Region          466..509
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          477..523
                     /region_name="Kelch 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H6.2)"
     Region          513..557
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          525..570
                     /region_name="Kelch 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H6.2)"
     Region          560..603
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          571..617
                     /region_name="Kelch 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H6.2)"
     Region          607..658
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          619..670
                     /region_name="Kelch 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H6.2)"
     Region          660..699
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          671..717
                     /region_name="Kelch 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9C0H6.2)"
     CDS             1..718
                     /gene="KLHL4"
                     /gene_synonym="DKELCHL; KHL4"
                     /coded_by="NM_019117.5:93..2249"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS14457.1"
                     /db_xref="GeneID:56062"
                     /db_xref="HGNC:HGNC:6355"
                     /db_xref="MIM:300348"
ORIGIN      
        1 msvsgkkefd vkqilrlrwr wfshpfqgst ntgsclqqeg yehrgtpvqg rlkshsrdrn
       61 glkksnspvh hnilapvpgp apahqravqn lqqhnlivhf qanedtpksv peknlfkeac
      121 ekraqdlemm addniedsta rldtqhsedm natrseeqfh vinhaeqtlr kmenylkekq
      181 lcdvlliagh lripahrlvl savsdyfaam ftndvleakq eevrmegvdp nalnslvqya
      241 ytgvlqlked tiesllaaac llqltqvidv csnflikqlh psnclgirsf gdaqgctell
      301 nvahkytmeh fieviknqef lllpaneisk llcsddinvp deetifhalm qwvghdvqnr
      361 qgelgmllsy irlpllppql ladletssmf tgdlecqkll meamkyhllp errsmmqspr
      421 tkprkstvga lyavggmdam kgtttiekyd lrtnswlhig tmngrrlqfg vavidnklyv
      481 vggrdglktl ntvecfnpvg kiwtvmppms thrhglgvat legpmyavgg hdgwsylntv
      541 erwdpegrqw nyvasmstpr stvgvvalnn klyaiggrdg ssclksmeyf dphtnkwslc
      601 apmskrrggv gvatyngfly vvgghdapas nhcsrlsdcv erydpkgdsw stvaplsvpr
      661 davavcplgd klyvvggydg htylntvesy daqrnewkee vpvnigraga cvvvvklp
//
