LOCUS       NP_751943                406 aa            linear   PRI 28-APR-2025
DEFINITION  kelch domain-containing protein 1 [Homo sapiens].
ACCESSION   NP_751943
VERSION     NP_751943.1
DBSOURCE    REFSEQ: accession NM_172193.3
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 406)
  AUTHORS   Okumura,F., Fujiki,Y., Oki,N., Osaki,K., Nishikimi,A., Fukui,Y.,
            Nakatsukasa,K. and Kamura,T.
  TITLE     Cul5-type Ubiquitin Ligase KLHDC1 Contributes to the Elimination of
            Truncated SELENOS Produced by Failed UGA/Sec Decoding
  JOURNAL   iScience 23 (3), 100970 (2020)
   PUBMED   32200094
REFERENCE   2  (residues 1 to 406)
  AUTHORS   Horer,S., Reinert,D., Ostmann,K., Hoevels,Y. and Nar,H.
  TITLE     Crystal-contact engineering to obtain a crystal form of the Kelch
            domain of human Keap1 suitable for ligand-soaking experiments
  JOURNAL   Acta Crystallogr Sect F Struct Biol Cryst Commun 69 (Pt 6), 592-596
            (2013)
   PUBMED   23722832
  REMARK    GeneRIF: The crystal structures of the apo form of the mutated
            Keap1 Kelch domain (1.98 A resolution) and of the complex with an
            Nrf2-derived peptide obtained by soaking (2.20 A resolution) are
            reported.
REFERENCE   3  (residues 1 to 406)
  AUTHORS   Feng,T. and Zhu,X.
  TITLE     Genome-wide searching of rare genetic variants in WTCCC data
  JOURNAL   Hum Genet 128 (3), 269-280 (2010)
   PUBMED   20549515
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   4  (residues 1 to 406)
  AUTHORS   Mirshahpanah,P., Li,Y.Y., Burkhardt,N., Asadullah,K. and
            Zollner,T.M.
  TITLE     CCR4 and CCR10 ligands play additive roles in mouse contact
            hypersensitivity
  JOURNAL   Exp Dermatol 17 (1), 30-34 (2008)
   PUBMED   18095942
  REMARK    GeneRIF: Blocking CCR4 and CCR10 simultaneously, or their ligands,
            should be beneficial in the treatment of T-cell-mediated skin
            diseases.
REFERENCE   5  (residues 1 to 406)
  AUTHORS   Chin,K.T., Xu,H.T., Ching,Y.P. and Jin,D.Y.
  TITLE     Differential subcellular localization and activity of kelch repeat
            proteins KLHDC1 and KLHDC2
  JOURNAL   Mol Cell Biochem 296 (1-2), 109-119 (2007)
   PUBMED   16964437
  REMARK    GeneRIF: Data show that KLHDC1 and KLHDC2 have differential
            localization and activity in cultured mammalian cells.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL591767.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.606895.1,
                                           SRR1660807.262424.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359332.7/ ENSP00000352282.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..406
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.3"
     Protein         1..406
                     /product="kelch domain-containing protein 1"
                     /calculated_mol_wt=46589
     Region          <10..93
                     /region_name="NanM"
                     /note="N-acetylneuraminic acid mutarotase [Cell
                     wall/membrane/envelope biogenesis]; COG3055"
                     /db_xref="CDD:442289"
     Region          13..65
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          24..76
                     /region_name="Kelch 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7A1.2)"
     Region          63..327
                     /region_name="NanM"
                     /note="N-acetylneuraminic acid mutarotase [Cell
                     wall/membrane/envelope biogenesis]; COG3055"
                     /db_xref="CDD:442289"
     Region          69..194
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          80..134
                     /region_name="Kelch 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7A1.2)"
     Region          135..181
                     /region_name="Kelch 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7A1.2)"
     Region          197..235
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          208..258
                     /region_name="Kelch 4"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7A1.2)"
     Region          248..294
                     /region_name="KELCH repeat"
                     /note="KELCH repeat [structural motif]"
                     /db_xref="CDD:276965"
     Region          260..307
                     /region_name="Kelch 5"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7A1.2)"
     Region          311..361
                     /region_name="Kelch 6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N7A1.2)"
     CDS             1..406
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /coded_by="NM_172193.3:76..1296"
                     /db_xref="CCDS:CCDS9692.1"
                     /db_xref="GeneID:122773"
                     /db_xref="HGNC:HGNC:19836"
                     /db_xref="MIM:611281"
ORIGIN      
        1 madsqlfcva eersghcavv dgnflyvwgg yvsiednevy lpndeiwtyd idsglwrmhl
       61 megelpasms gscgacingk lyifggyddk gysnrlyfvn lrtrdetyiw ekitdfegqp
      121 ptprdklscw vykdrliyfg gygcrrhsel qdcfdvhdas weeqifwgwh ndvhifdtkt
      181 qtwfqpeikg gvppqpraah tcavlgnkgy ifggrvlqtr mndlhylnld twtwsgriti
      241 ngespkhrsw htltpiaddk lflcgglsad niplsdgwih nvttncwkql thlpktrprl
      301 whtaclgken eimvfggskd dllaldtghc ndllifqtqp ysllrscldc igknsimles
      361 qisllppkll qqvlkkitfw aaanhreeqr vqkeetenky qwissn
//
