LOCUS       NM_172193               2674 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.
ACCESSION   NM_172193
VERSION     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  (bases 1 to 2674)
  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  (bases 1 to 2674)
  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  (bases 1 to 2674)
  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  (bases 1 to 2674)
  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  (bases 1 to 2674)
  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.
            
            On Nov 23, 2018 this sequence version replaced NM_172193.2.
            
            ##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##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-171               AL591767.2         74461-74631
            172-242             AL591767.2         90500-90570
            243-360             AL591767.2         91050-91167
            361-479             AL591767.2         91604-91722
            480-558             AL591767.2         105215-105293
            559-642             AL591767.2         107027-107110
            643-726             AL591767.2         110267-110350
            727-785             AL591767.2         110831-110889
            786-898             AL591767.2         114045-114157
            899-971             AL591767.2         115930-116002
            972-1056            AL591767.2         121439-121523
            1057-1109           AL591767.2         125094-125146
            1110-2674           AL591767.2         132927-134491
FEATURES             Location/Qualifiers
     source          1..2674
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.3"
     gene            1..2674
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /note="kelch domain containing 1"
                     /db_xref="GeneID:122773"
                     /db_xref="HGNC:HGNC:19836"
                     /db_xref="MIM:611281"
     exon            1..171
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..1296
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /codon_start=1
                     /product="kelch domain-containing protein 1"
                     /protein_id="NP_751943.1"
                     /db_xref="CCDS:CCDS9692.1"
                     /db_xref="GeneID:122773"
                     /db_xref="HGNC:HGNC:19836"
                     /db_xref="MIM:611281"
                     /translation="MADSQLFCVAEERSGHCAVVDGNFLYVWGGYVSIEDNEVYLPND
                     EIWTYDIDSGLWRMHLMEGELPASMSGSCGACINGKLYIFGGYDDKGYSNRLYFVNLR
                     TRDETYIWEKITDFEGQPPTPRDKLSCWVYKDRLIYFGGYGCRRHSELQDCFDVHDAS
                     WEEQIFWGWHNDVHIFDTKTQTWFQPEIKGGVPPQPRAAHTCAVLGNKGYIFGGRVLQ
                     TRMNDLHYLNLDTWTWSGRITINGESPKHRSWHTLTPIADDKLFLCGGLSADNIPLSD
                     GWIHNVTTNCWKQLTHLPKTRPRLWHTACLGKENEIMVFGGSKDDLLALDTGHCNDLL
                     IFQTQPYSLLRSCLDCIGKNSIMLESQISLLPPKLLQQVLKKITFWAAANHREEQRVQ
                     KEETENKYQWISSN"
     exon            172..242
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            243..360
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            361..479
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            480..558
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            559..642
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            643..726
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            727..785
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            786..898
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            899..971
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            972..1056
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1109
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..2674
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2662..2667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /note="hexamer: ATTATA"
     polyA_site      2674
                     /gene="KLHDC1"
                     /gene_synonym="MST025"
                     /note="major polyA site"
ORIGIN      
        1 agtcggggct ggaggcgagg ccgccgggcg ggcaggggtt gtggcgcggc aagcggcggg
       61 ccagcgacgg cgcgaatggc ggactctcag ctgttctgtg tggcggagga acgcagcggc
      121 cactgcgccg tggtggacgg aaacttcctc tacgtgtggg ggggctacgt gtctattgaa
      181 gacaatgaag tatatttgcc taatgatgaa atttggacct atgatattga tagtgggttg
      241 tggagaatgc acctcatgga aggagaactc ccagcctcca tgtcaggaag ctgtggtgct
      301 tgcattaatg gaaagctgta catttttgga ggatatgatg acaaaggata cagcaatcga
      361 ctttattttg ttaatttacg aacaagagat gaaacctaca tttgggagaa aatcaccgac
      421 tttgaagggc aaccacctac accacgtgat aaactttcct gctgggtata taaagacaga
      481 ctaatatatt ttggtggtta tgggtgtagg agacacagtg aactccaaga ctgttttgat
      541 gttcatgatg catcttggga agagcagata ttctggggat ggcataatga tgtccacata
      601 tttgacacaa agacacagac ttggtttcaa ccagaaatta aaggtggagt tccaccacag
      661 ccacgagccg cgcatacatg tgcagttctt ggaaataagg gttatatctt tggcggacgt
      721 gttctgcaaa ctaggatgaa tgatttgcac tatctaaacc tagacacctg gacttggtct
      781 ggaaggatta ctattaatgg agaaagccca aaacatcggt catggcatac tttaacacct
      841 atagctgatg ataaactttt cctatgtggt ggactaagtg cagataatat cccattaagt
      901 gatggttgga ttcataatgt cacaacaaat tgttggaaac aacttacaca tttacctaaa
      961 acaagaccta ggttatggca cacagcctgt ttgggaaaag aaaatgaaat aatggtattt
     1021 ggtgggagca aagatgactt acttgccttg gatacaggtc actgtaatga tttattgatc
     1081 tttcaaacac agccttattc actactcagg tcatgccttg actgcattgg taaaaattct
     1141 atcatgttag aaagtcagat atctttatta cctcctaaac ttctgcaaca agtactcaaa
     1201 aaaataacat tttgggctgc agctaatcac cgagaagaac aaagagtcca aaaagaagaa
     1261 acagaaaata aatatcagtg gatcagtagc aattaaattg ttatatactt tacatattta
     1321 gtatgtttta actttttaat cagactatac atttacactc ccaaattgca ggctttattt
     1381 aaaggataaa atttaaagga taaaaaaaca gtcactctgt taagtgacta tatgccatgg
     1441 gatatatgga aaaaagatat taatgcagat taatttatat ttgtaaacaa atttccttac
     1501 aaactgcaga acaaatattc tttctgaaag taagtacagt tataacagat tttaaatcaa
     1561 tgtgtattct ttactggaaa gattacatac atttgagaat aagaaattac tctcaagaac
     1621 ttcagaaatc tgcaacataa ttttataaat atataaatac atgtatgtat gtcaaaacac
     1681 tacatataca ctttcagaaa gaataaactt tctcaagtca ttttaaagtt acctaacgtt
     1741 cttcttgaat aactaataca gtgggtcaaa tattataaaa taggcaaaca ccaaaatggt
     1801 attaaatatt gaactcctga ccttttcgac acttacctag taaagtattc ttaggcatca
     1861 tcataacttt tcctcacctt tattcgaata gaggaataaa tgtcttcagt tgtctctcca
     1921 ttacccctaa gttattagtt tgtctagttt atatataaag accatgtttt aaagtacata
     1981 aagtggaggt ttatttatca tacaggcttt gaaacattaa gaagcagtat ttttattaac
     2041 tttttgagac atattaaaat acattttgcc ttagaagact gcttctaaag taatttttgt
     2101 aagtaatgag atgggatggt aatctagtaa tttgacttta tagaaatccc tcagtttggc
     2161 ccccaccatt ctacagagtt gtactcaaga cagatactga aaaaatctaa taccttccct
     2221 tgtattttca gcattaccat ctatacagaa atggaacact gtatctttat attcctaaaa
     2281 atggtacttt tggcataatt aagaaatttt tcttcatatt atcacaatca tgcccttcca
     2341 ttgaattatt aattacaatt aattactaaa aagcttggta tgtaaaatta ttctccacaa
     2401 tattaccatg caagttatct ctgaaattta aaatgttaaa gaaaaacatt tctatattga
     2461 aatatatata atttataatg aaaattatag tagtttgtag tatttcattg aattttagag
     2521 agatatttca tatatatgta ctgtattttg gatgtgtaaa gcttctatgt attgaaatat
     2581 ttttttacgt tttatttatt gtacaaagtg tatataatta ctgttttctt ttttgtcagt
     2641 gtaaagcagt cattagaatt gattatacaa aaaa
//
