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PEX5-related protein isoform 8 [Homo sapiens]

NCBI Reference Sequence: NP_001336339.1

Identical Proteins FASTA Graphics 

LOCUS       NP_001336339             434 aa            linear   PRI 20-SEP-2024
DEFINITION  PEX5-related protein isoform 8 [Homo sapiens].
ACCESSION   NP_001336339 XP_016862100
VERSION     NP_001336339.1
DBSOURCE    REFSEQ: accession NM_001349410.2
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 434)
  AUTHORS   Chen,A.S., Liu,H., Wu,Y., Luo,S., Patz,E.F. Jr., Glass,C., Su,L.,
            Du,M., Christiani,D.C. and Wei,Q.
  TITLE     Genetic variants in DDO and PEX5L in peroxisome-related pathways
            predict non-small cell lung cancer survival
  JOURNAL   Mol Carcinog 61 (7), 619-628 (2022)
   PUBMED   35502931
  REMARK    GeneRIF: Genetic variants in DDO and PEX5L in peroxisome-related
            pathways predict non-small cell lung cancer survival.
REFERENCE   2  (residues 1 to 434)
  AUTHORS   Lyman,K.A., Han,Y., Heuermann,R.J., Cheng,X., Kurz,J.E.,
            Lyman,R.E., Van Veldhoven,P.P. and Chetkovich,D.M.
  TITLE     Allostery between two binding sites in the ion channel subunit
            TRIP8b confers binding specificity to HCN channels
  JOURNAL   J Biol Chem 292 (43), 17718-17730 (2017)
   PUBMED   28887304
  REMARK    GeneRIF: allosteric coupling of the TRIP8b TPR domains both
            promotes binding to HCN channels and limits binding to type 1
            peroxisomal targeting signal substrates.
REFERENCE   3  (residues 1 to 434)
  AUTHORS   Bankston,J.R., DeBerg,H.A., Stoll,S. and Zagotta,W.N.
  TITLE     Mechanism for the inhibition of the cAMP dependence of HCN ion
            channels by the auxiliary subunit TRIP8b
  JOURNAL   J Biol Chem 292 (43), 17794-17803 (2017)
   PUBMED   28864772
  REMARK    GeneRIF: TRIP8b competes with a portion of the cAMP-binding site or
            distorts the binding site by making interactions with the binding
            pocket, thus acting predominantly as a competitive antagonist that
            inhibits the cyclic-nucleotide dependence of HCN channels.
REFERENCE   4  (residues 1 to 434)
  AUTHORS   DeBerg,H.A., Bankston,J.R., Rosenbaum,J.C., Brzovic,P.S.,
            Zagotta,W.N. and Stoll,S.
  TITLE     Structural mechanism for the regulation of HCN ion channels by the
            accessory protein TRIP8b
  JOURNAL   Structure 23 (4), 734-744 (2015)
   PUBMED   25800552
REFERENCE   5  (residues 1 to 434)
  AUTHORS   Kunze,M., Malkani,N., Maurer-Stroh,S., Wiesinger,C., Schmid,J.A.
            and Berger,J.
  TITLE     Mechanistic insights into PTS2-mediated peroxisomal protein import:
            the co-receptor PEX5L drastically increases the interaction
            strength between the cargo protein and the receptor PEX7
  JOURNAL   J Biol Chem 290 (8), 4928-4940 (2015)
   PUBMED   25538232
  REMARK    GeneRIF: the sequential formation of a highly stable trimeric
            complex involving cargo protein, PEX7 and PEX5L stabilizes cargo
            binding and is a prerequisite for PTS2-mediated peroxisomal import.
REFERENCE   6  (residues 1 to 434)
  AUTHORS   Han,Y., Noam,Y., Lewis,A.S., Gallagher,J.J., Wadman,W.J.,
            Baram,T.Z. and Chetkovich,D.M.
  TITLE     Trafficking and gating of hyperpolarization-activated cyclic
            nucleotide-gated channels are regulated by interaction with
            tetratricopeptide repeat-containing Rab8b-interacting protein
            (TRIP8b) and cyclic AMP at distinct sites
  JOURNAL   J Biol Chem 286 (23), 20823-20834 (2011)
   PUBMED   21504900
  REMARK    GeneRIF: increasing cAMP levels in cells antagonized the
            up-regulation of HCN1 channels mediated by a TRIP8b construct
            binding the CNBD exclusively.
REFERENCE   7  (residues 1 to 434)
  AUTHORS   Sim,X., Ong,R.T., Suo,C., Tay,W.T., Liu,J., Ng,D.P., Boehnke,M.,
            Chia,K.S., Wong,T.Y., Seielstad,M., Teo,Y.Y. and Tai,E.S.
  TITLE     Transferability of type 2 diabetes implicated loci in multi-ethnic
            cohorts from Southeast Asia
  JOURNAL   PLoS Genet 7 (4), e1001363 (2011)
   PUBMED   21490949
REFERENCE   8  (residues 1 to 434)
  AUTHORS   Zolles,G., Wenzel,D., Bildl,W., Schulte,U., Hofmann,A.,
            Muller,C.S., Thumfart,J.O., Vlachos,A., Deller,T., Pfeifer,A.,
            Fleischmann,B.K., Roeper,J., Fakler,B. and Klocker,N.
  TITLE     Association with the auxiliary subunit PEX5R/Trip8b controls
            responsiveness of HCN channels to cAMP and adrenergic stimulation
  JOURNAL   Neuron 62 (6), 814-825 (2009)
   PUBMED   19555650
REFERENCE   9  (residues 1 to 434)
  AUTHORS   Fransen,M., Amery,L., Hartig,A., Brees,C., Rabijns,A.,
            Mannaerts,G.P. and Van Veldhoven,P.P.
  TITLE     Comparison of the PTS1- and Rab8b-binding properties of Pex5p and
            Pex5Rp/TRIP8b
  JOURNAL   Biochim Biophys Acta 1783 (5), 864-873 (2008)
   PUBMED   18346465
REFERENCE   10 (residues 1 to 434)
  AUTHORS   Amery,L., Sano,H., Mannaerts,G.P., Snider,J., Van Looy,J.,
            Fransen,M. and Van Veldhoven,P.P.
  TITLE     Identification of PEX5p-related novel peroxisome-targeting signal 1
            (PTS1)-binding proteins in mammals
  JOURNAL   Biochem J 357 (Pt 3), 635-646 (2001)
   PUBMED   11463335
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092939.8 and AC007687.17.
            
            On Mar 15, 2017 this sequence version replaced XP_016862100.1.
            
            Transcript Variant: This variant (28), as well as variants 8 and
            22-27, encodes isoform 8.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1803612.245209.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..434
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     Protein         1..434
                     /product="PEX5-related protein isoform 8"
                     /note="Pex5p-related protein; PEX5-related protein;
                     PEX5-like protein; PEX2-related protein; peroxin-5-related
                     protein; peroxisome biogenesis factor 5-like;
                     tetratricopeptide repeat-containing Rab8b-interacting
                     protein; HCN channel auxiliary subunit"
                     /calculated_mol_wt=48398
     Region          62..>235
                     /region_name="Spy"
                     /note="Predicted O-linked N-acetylglucosamine transferase,
                     SPINDLY family [Posttranslational modification, protein
                     turnover, chaperones]; COG3914"
                     /db_xref="CDD:443119"
     Site            order(138..139,142..143,145,169,172..173,176..177,
                     179..180,203,206..207,210..211,214)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          138..162
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          164..433
                     /region_name="TPR"
                     /note="Tetratricopeptide (TPR) repeat [General function
                     prediction only]; COG0457"
                     /db_xref="CDD:440225"
     Region          167..197
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          202..230
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          282..310
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(283,286..287,290..291,293,317,320..321,324..325,
                     327..328,351,354..355,358..359,362)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          315..345
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          350..378
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     CDS             1..434
                     /gene="PEX5L"
                     /gene_synonym="PEX5R; PEX5RP; PXR2; PXR2B; TRIP8b"
                     /coded_by="NM_001349410.2:466..1770"
                     /note="isoform 8 is encoded by transcript variant 28"
                     /db_xref="CCDS:CCDS58861.1"
                     /db_xref="GeneID:51555"
                     /db_xref="HGNC:HGNC:30024"
                     /db_xref="MIM:611058"
ORIGIN      
        1 maerkssssr tgskellwss ehrsqpelsg gksalnsesa selelvaptq arltkehrwg
       61 sallsrnhsl eeeferakaa vesdtefwdk mqaeweemar rnwisenqea qnqvtisase
      121 kgyyfhtenp fkdwpgafee glkrlkegdl pvtilfmeaa ilqdpgdaea wqflgitqae
      181 neneqaaiva lqrclelqpn nlkalmalav sytntghqqd acdalknwik qnpkykylvk
      241 skkgspgltr rmskspvdss vlegvkelyl eaahqngdmi dpdlqtglgv lfhlsgefnr
      301 aidafnaalt vrpedyslwn rlgatlangd rseeaveayt raleiqpgfi rsrynlgisc
      361 inlgayreav snfltalslq rksrnqqqvp hpaisgniwa alrialslmd qpelfqaanl
      421 gdldvllraf nldp
//
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