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fredag 25 oktober 2019

KLHL33(14q11.2) , sis. siaalihappoa mutarotatoivan domeenin, virulenssifaktorin

  1. NM_001109997.3NP_001103467.2  kelch-like protein 33 isoform 2
    See identical proteins and their annotated locations for NP_001103467.2
    Status: VALIDATED
    Source sequence(s)
    AL355075, BC146954, BY797694
    Consensus CDS
    CCDS53882.1
    UniProtKB/Swiss-Prot
    A6NCF5
    UniProtKB/TrEMBL
    B2RUZ8
    Related
    ENSP00000341549.4, ENST00000344581.4
    Conserved Domains (5) summary
    smart00612
    Location:274322
    Kelch; Kelch domain
    smart00875
    Location:75175
    BACK; BTB And C-terminal Kelch
    TIGR03547
    Location:253505
    muta_rot_YjhT; mutatrotase, YjhT family
    sd00038
    Location:312355
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:311356
    Kelch_1; Kelch motif
     
     
     

    kelch-like protein 33 isoform 2 [Homo sapiens]

    NCBI Reference Sequence: NP_001103467.2
    LOCUS       NP_001103467             533 aa            linear   PRI 22-MAR-2019
    DEFINITION  kelch-like protein 33 isoform 2 [Homo sapiens].
    ACCESSION   NP_001103467 XP_063481
    VERSION     NP_001103467.2
    DBSOURCE    REFSEQ: accession NM_001109997.3
    KEYWORDS    RefSeq.
    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 533)
      AUTHORS   Dhanoa BS, Cogliati T, Satish AG, Bruford EA and Friedman JS.
      TITLE     Update on the Kelch-like (KLHL) gene family
      JOURNAL   Hum. Genomics 7, 13 (2013)
       PUBMED   23676014
      REMARK    Publication Status: Online-Only
    REFERENCE   2  (residues 1 to 533)
      AUTHORS   Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T,
                Lam DS and Pang CP.
      TITLE     Genomic annotation of 15,809 ESTs identified from pooled early
                gestation human eyes
      JOURNAL   Physiol. Genomics 25 (1), 9-15 (2006)
       PUBMED   16368877
    COMMENT     VALIDATED REFSEQ: This record has undergone validation or
                preliminary review. The reference sequence was derived from
                AL355075.6, BY797694.2 and BC146954.1.
                On Oct 31, 2009 this sequence version replaced NP_001103467.1.
                
                Sequence Note: This RefSeq record was created from transcript and
                genomic sequence data to make the sequence consistent with the
                reference genome assembly. The genomic coordinates used for the
                transcript record were based on transcript alignments.
                
                ##Evidence-Data-START##
                CDS exon combination :: SRR1660807.163528.1, SRR1660803.77381.1
                                        [ECO:0000331]
                RNAseq introns       :: single sample supports all introns
                                        SAMEA2142680 [ECO:0000348]
                ##Evidence-Data-END##
                
                ##RefSeq-Attributes-START##
                inferred exon combination :: based on alignments, homology
                ##RefSeq-Attributes-END##
    FEATURES             Location/Qualifiers
         source          1..533
                         /organism="Homo sapiens"
                         /db_xref="taxon:9606"
                         /chromosome="14"
                         /map="14q11.2"
         Protein         1..533
                         /product="kelch-like protein 33 isoform 2"
                         /note="kelch-like protein 33"
                         /calculated_mol_wt=57679
         Region          75..175
                         /region_name="BACK"
                         /note="BTB And C-terminal Kelch; smart00875"
                         /db_xref="CDD:197943"
         Site            order(83..85,88)
                         /site_type="other"
                         /note="Cullin binding site [polypeptide binding]"
                         /db_xref="CDD:269808"
         Site            order(98..99,106..107,111,116..117,119..120,122..124,
                         126..127)
                         /site_type="other"
                         /note="putative dimer interface [polypeptide binding]"
                         /db_xref="CDD:269808"
         Region          210..258
                         /region_name="Kelch 1"
                         /experiment="experimental evidence, no additional details
                         recorded"
                         /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)"
         Region          253..505
                         /region_name="muta_rot_YjhT"
                         /note="mutatrotase, YjhT family; TIGR03547"
                         /db_xref="CDD:274641"
    mutatrotase, YjhT family
    Members of this protein family contain multiple copies of the beta-propeller-forming Kelch repeat. All are full-length homologs to YjhT of Escherichia coli, which has been identified as a mutarotase for sialic acid. This protein improves bacterial ability to obtain host sialic acid, and thus serves as a virulence factor. Some bacteria carry what appears to be a cyclically permuted homolog of this protein.
    Region 261..310 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 273..322 /region_name="Kelch 2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" Region 274..322 /region_name="Kelch" /note="Kelch domain; smart00612" /db_xref="CDD:128874" Region 311..356 /region_name="Kelch_1" /note="Kelch motif; pfam01344" /db_xref="CDD:279660" Region 312..355 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 323..369 /region_name="Kelch 3" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" Region 358..>393 /region_name="Kelch_1" /note="Kelch motif; pfam01344" /db_xref="CDD:279660" Region 359..405 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 371..418 /region_name="Kelch 4" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" Region 407..452 /region_name="Kelch_1" /note="Kelch motif; pfam01344" /db_xref="CDD:279660" Region 408..453 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 419..465 /region_name="Kelch 5" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" Region 455..501 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 467..514 /region_name="Kelch 6" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" CDS 1..533 /gene="KLHL33" /coded_by="NM_001109997.3:412..2013" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS53882.1" /db_xref="GeneID:123103" /db_xref="HGNC:HGNC:31952" ORIGIN 1 mllsgmresq gtevslrtis tqdlrllvsf aysgvvrarw pgllraaqaa lqyqssscld 61 lcqkglargl sparclalfp maeapglerl wskarhyllt hlpavalcpa fpslpaacla 121 elldsdelhv qeefeafvaa rcwlaanpet qeseakallr cvrfgrmstr elrrvraagl 181 lppltpdllh qlmveadvpg qerrrepdra lvviggdglr pdmalrqpsr avwwarafrc 241 gvglvrtvew gqlpalpapg rfrhgaasla gselyvcggq dfyshsntla stlrwepsqe 301 dweemaplsq arslfslval dgklyalggr hndvaldsve tynpelnvwr papalpapcf 361 ahaaailegq lyvsggcggt gqylaslmhy dpklekpgtf lspmgvprag hvmaalggrl 421 yvagglgete dllsfeayel rtdswthlap lpsphvgaas avlqgellvl ggyshrtyal 481 shlihaycpg lgrwlclgtl prpraempac iltlpavqhi alvptphqtk pag 
      //
    LLxxL, LXXLL

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