LOCUS       NP_056083               2243 aa            linear   PRI 19-SEP-2024
DEFINITION  dnaJ homolog subfamily C member 13 isoform 2 [Homo sapiens].
ACCESSION   NP_056083 XP_039828
VERSION     NP_056083.3
DBSOURCE    REFSEQ: accession NM_015268.4
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 2243)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (residues 1 to 2243)
  AUTHORS   Saini,P., Rudakou,U., Yu,E., Ruskey,J.A., Asayesh,F., Laurent,S.B.,
            Spiegelman,D., Fahn,S., Waters,C., Monchi,O., Dauvilliers,Y.,
            Dupre,N., Greenbaum,L., Hassin-Baer,S., Espay,A.J., Rouleau,G.A.,
            Alcalay,R.N., Fon,E.A., Postuma,R.B. and Gan-Or,Z.
  TITLE     Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with
            Parkinson's disease
  JOURNAL   Neurobiol Aging 100, 119 (2021)
   PUBMED   33239198
  REMARK    GeneRIF: Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and
            EIF4G1 with Parkinson's disease.
REFERENCE   3  (residues 1 to 2243)
  AUTHORS   Besemer,A.S., Maus,J., Ax,M.D.A., Stein,A., Vo,S., Freese,C.,
            Nalbach,K., von Hilchen,C., Pfalzgraf,I.F., Koziollek-Drechsler,I.,
            Silva,B., Huesmann,H., Boukhallouk,F., Florin,L., Kern,A., Behl,C.
            and Clement,A.M.
  TITLE     Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive
            modulator of autophagy and stabilizes cellular protein homeostasis
  JOURNAL   Cell Mol Life Sci 78 (2), 645-660 (2021)
   PUBMED   32322926
  REMARK    GeneRIF: Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel
            positive modulator of autophagy and stabilizes cellular protein
            homeostasis.
REFERENCE   4  (residues 1 to 2243)
  AUTHORS   Follett,J., Fox,J.D., Gustavsson,E.K., Kadgien,C., Munsie,L.N.,
            Cao,L.P., Tatarnikov,I., Milnerwood,A.J. and Farrer,M.J.
  TITLE     DNAJC13 p.Asn855Ser, implicated in familial parkinsonism, alters
            membrane dynamics of sorting nexin 1
  JOURNAL   Neurosci Lett 706, 114-122 (2019)
   PUBMED   31082451
REFERENCE   5  (residues 1 to 2243)
  AUTHORS   Gagliardi,M., Annesi,G., Procopio,R., Morelli,M., Iannello,G.,
            Bonapace,G., Mancini,M., Nicoletti,G. and Quattrone,A.
  TITLE     DNAJC13 mutation screening in patients with Parkinson's disease
            from South Italy
  JOURNAL   Parkinsonism Relat Disord 55, 134-137 (2018)
   PUBMED   29887357
  REMARK    GeneRIF: This study showed the DNAJC13 mutation screening in
            patients with Parkinson's disease.
REFERENCE   6  (residues 1 to 2243)
  AUTHORS   Girard,M., Poupon,V., Blondeau,F. and McPherson,P.S.
  TITLE     The DnaJ-domain protein RME-8 functions in endosomal trafficking
  JOURNAL   J Biol Chem 280 (48), 40135-40143 (2005)
   PUBMED   16179350
  REMARK    GeneRIF: RME-8 functions in intracellular trafficking and provides
            the first evidence of a functional role for a DnaJ domain-bearing
            co-chaperone on endosomes
REFERENCE   7  (residues 1 to 2243)
  AUTHORS   Foster,L.J., Zeemann,P.A., Li,C., Mann,M., Jensen,O.N. and
            Kassem,M.
  TITLE     Differential expression profiling of membrane proteins by
            quantitative proteomics in a human mesenchymal stem cell line
            undergoing osteoblast differentiation
  JOURNAL   Stem Cells 23 (9), 1367-1377 (2005)
   PUBMED   16210410
REFERENCE   8  (residues 1 to 2243)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   9  (residues 1 to 2243)
  AUTHORS   Chang,H.C., Hull,M. and Mellman,I.
  TITLE     The J-domain protein Rme-8 interacts with Hsc70 to control
            clathrin-dependent endocytosis in Drosophila
  JOURNAL   J Cell Biol 164 (7), 1055-1064 (2004)
   PUBMED   15051737
REFERENCE   10 (residues 1 to 2243)
  AUTHORS   Volz,A., Melkaoui,R., Hildebrandt,F. and Omran,H.
  TITLE     Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein
            for adolescent nephronophthisis and Senior-Loken syndrome type 3
  JOURNAL   Cytogenet Genome Res 97 (3-4), 163-166 (2002)
   PUBMED   12438707
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC020633.3, AY779857.1 and
            AI189887.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 17, 2006 this sequence version replaced NP_056083.2.
            
            Summary: This gene encodes a member of the Dnaj protein family
            whose members act as co-chaperones of a partner heat-shock protein
            by binding to the latter and stimulating ATP hydrolysis. The
            encoded protein associates with the heat-shock protein Hsc70 and
            plays a role in clathrin-mediated endocytosis. It may also be
            involved in post-endocytic transport mechanisms via its
            associations with other proteins, including the sorting nexin SNX1.
            Mutations in this gene are associated with Parkinson's disease.
            [provided by RefSeq, Jun 2016].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. It encodes
            isoform 2, which is shorter than isoform 1.
            
            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 :: SRR1660807.120148.1,
                                           SRR1803613.137071.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260818.11/ ENSP00000260818.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     Protein         1..2243
                     /product="dnaJ homolog subfamily C member 13 isoform 2"
                     /note="dnaJ homolog subfamily C member 13; DnaJ
                     domain-containing protein RME-8; required for
                     receptor-mediated endocytosis 8; DnaJ (Hsp40) homolog,
                     subfamily C, member 13"
                     /calculated_mol_wt=254285
     Region          1..453
                     /region_name="Involved in membrane association.
                     /evidence=ECO:0000269|PubMed:18256511"
                     /note="propagated from UniProtKB/Swiss-Prot (O75165.5)"
     Region          12..831
                     /region_name="RME-8_N"
                     /note="DNAJ protein RME-8 N-terminal; pfam19432"
                     /db_xref="CDD:466078"
     Site            84
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (O75165.5)"
     Region          976..1026
                     /region_name="GYF_2"
                     /note="GYF domain 2; pfam14237"
                     /db_xref="CDD:464112"
     Region          1301..1354
                     /region_name="DnaJ"
                     /note="DnaJ domain; pfam00226"
                     /db_xref="CDD:395170"
     Site            order(1332..1334,1340,1343..1344,1347..1348)
                     /site_type="other"
                     /note="HSP70 interaction site [polypeptide binding]"
                     /db_xref="CDD:99751"
     CDS             1..2243
                     /gene="DNAJC13"
                     /gene_synonym="PARK21; RME8"
                     /coded_by="NM_015268.4:273..7004"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS33857.1"
                     /db_xref="GeneID:23317"
                     /db_xref="HGNC:HGNC:30343"
                     /db_xref="MIM:614334"
ORIGIN      
        1 mniirenkdl acfyttkhsw rgkykrvfsv gthaittynp ntlevtnqwp ygdicsispv
       61 gkgqgtefnl tfrkgsgkks etlkfstehr telltealrf rtdfsegkit grryncykhh
      121 wsdsrkpvil evtpggfdqi npatnrvlcs ydyrniegfv dlsdyqggfc ilyggfsrlh
      181 lfaseqreei iksaidhagn yigislrirk eplefeqyln lrfgkystde sitslaefvv
      241 qkisprhsep vkrvlaltet clverdpaty niatlkplge vfalvcdsen pqlftiefik
      301 gqvrkysste rdsllaslld gvrasgnrdv cvkmtpthkg qrwgllsmpv deeveslhlr
      361 flatppngnf adavfrfnan isysgvlhav tqdglfsenk eklinnaita llsqegdvva
      421 snaelesqfq avrrlvaska gflaftqlpk frerlgvkvv kalkrsnngi ihaavdmlca
      481 lmcpmhddyd lrqeqlnkas llsskkflen llekfnshvd hgtgalviss lldfltfalc
      541 apysettegq qfdmllemva sngrtlfklf qhpsmaiikg aglvmkaiie egdkeiatkm
      601 qelalsegal prhlhtamft issdqrmltn rqlsrhlvgl wtadnatatn llkrilppgl
      661 laylessdlv pekdadrmhv rdnvkiamdq ygkfnkvpew qrlagkaake vekfakekvd
      721 lvlmhwrdrm giaqkeninq kpvvlrkrrq rikieanwdl fyyrfgqdha rsnliwnfkt
      781 reelkdtles emrafnidre lgsanviswn hhefevkyec laeeikigdy ylrllleede
      841 neesgsikrs yeffnelyhr flltpkvnmk clclqalaiv ygrcheeigp ftdtryiigm
      901 lerctdkler drlilflnkl ilnkknvkdl mdsngirilv dlltlahlhv sratvplqsn
      961 vieaapdmkr esekewyfgn adkersgpyg fhemqelwtk gmlnaktrcw aqgmdgwrpl
     1021 qsipqlkwcl lasgqavlne tdlatlilnm litmcgyfps rdqdnaiirp lpkvkrllsd
     1081 stclphiiql lltfdpilve kvaillyhim qdnpqlprly lsgvfffimm ytgsnvlpva
     1141 rflkythtkq afkseetkgq difqrsilgh ilpeamvcyl enyepekfse iflgefdtpe
     1201 aiwssemrrl miekiaahla dftprlqsnt ralyqycpip iinypqlene lfcniyylkq
     1261 lcdtlrfpdw pikdpvkllk dtldawkkev ekkppmmsid dayevlnlpq gqgphdeski
     1321 rkayfrlaqk yhpdknpegr dmfekvnkay eflctksaki vdgpdpenii lilktqsilf
     1381 nrhkedlqpy kyagypmlir titmetsddl lfskespllp aatelafhtv ncsalnaeel
     1441 rrenglevlq eafsrcvavl traskpsdms vqvcgyiskc ysvaaqfeec rekitempsi
     1501 ikdlcrvlyf gksiprvaal gvecvssfav dfwlqthlfq agilwyllgf lfnydytlee
     1561 sgiqkseetn qqevanslak lsvhalsrlg gylaeeqatp enptirksla gmltpyvark
     1621 lavasvteil kmlnsntesp yliwnnstra elleflesqq enmikkgdcd ktygsefvys
     1681 dhakelivge ifvrvynevp tfqlevpkaf aaslldyigs qaqylhtfma ithaakvese
     1741 qhgdrlprve malealrnvi kynpgsesec ighfklifsl lrvhgagqvq qlalevvniv
     1801 tsnqdcvnni aesmvlssll allhslpssr qlvletlyal tsstkiikea makgaliyll
     1861 dmfcnsthpq vraqtaelfa kmtadkligp kvritlmkfl psvfmdamrd npeaavhife
     1921 gthenpeliw ndnsrdkvst tvremmlehf knqqdnpean wklpedfavv fgeaegelav
     1981 ggvflrifia qpawvlrkpr efliallekl telleknnph getletltma tvclfsaqpq
     2041 ladqvpplgh lpkviqamnh rnnaipksai rvihalsene lcvramasle tigplmngmk
     2101 kradtvglac eainrmfqke qselvaqalk adlvpyllkl legiglenld spaatkaqiv
     2161 kalkamtrsl qygeqvneil crssvwsafk dqkhdlfise sqtagyltgp gvagyltagt
     2221 stsvmsnlpp pvdheagdlg yqt
//
