ID   DJB13_HUMAN             Reviewed;         316 AA.
AC   P59910; B3LEP4; Q8IZW5;
DT   10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT   10-OCT-2003, sequence version 1.
DT   27-MAR-2024, entry version 157.
DE   RecName: Full=DnaJ homolog subfamily B member 13;
DE   AltName: Full=Testis and spermatogenesis cell-related protein 6;
DE   AltName: Full=Testis spermatocyte apoptosis-related gene 6 protein;
DE   AltName: Full=Testis spermatogenesis apoptosis-related gene 3 protein;
DE   AltName: Full=Testis spermatogenesis apoptosis-related gene 6 protein;
GN   Name=DNAJB13; Synonyms=TSARG3, TSARG6;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Testis;
RX   PubMed=12673577;
RA   Liu G., Lu G.-X., Fu J.-J., Liu S.-F., Xing X.-W., Li L.;
RT   "Molecular cloning of TSARG3 gene related to apoptosis in human
RT   spermatogenic cells.";
RL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20:107-110(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA   Shan Y.X., Huang C.Q., Yu L.;
RT   "Cloning and characterization of a novel human and rat DnaJ gene.";
RL   Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA   Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA   Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA   Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA   Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   INVOLVEMENT IN CILD34, VARIANT CILD34 ARG-278, CHARACTERIZATION OF VARIANT
RP   CILD34 ARG-278, FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, AND TISSUE
RP   SPECIFICITY.
RX   PubMed=27486783; DOI=10.1016/j.ajhg.2016.06.022;
RA   El Khouri E., Thomas L., Jeanson L., Bequignon E., Vallette B.,
RA   Duquesnoy P., Montantin G., Copin B., Dastot-Le Moal F., Blanchon S.,
RA   Papon J.F., Lores P., Yuan L., Collot N., Tissier S., Faucon C., Gacon G.,
RA   Patrat C., Wolf J.P., Dulioust E., Crestani B., Escudier E., Coste A.,
RA   Legendre M., Toure A., Amselem S.;
RT   "Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary
RT   Ciliary Dyskinesia and Male Infertility.";
RL   Am. J. Hum. Genet. 99:489-500(2016).
CC   -!- FUNCTION: Functions as part of axonemal radial spoke complexes that
CC       play an important part in the motility of sperm and cilia.
CC       {ECO:0000269|PubMed:27486783}.
CC   -!- SUBUNIT: Homodimer (PubMed:27486783). Component of the axonemal radial
CC       spoke complex 1 (RS1), at least composed of spoke head proteins RSPH1,
CC       RSPH3, RSPH9 and the cilia-specific component RSPH4A or sperm-specific
CC       component RSPH6A, spoke stalk proteins RSPH14, DNAJB13, DYDC1, ROPN1L
CC       and NME5, and the anchor protein IQUB (By similarity). Interacts with
CC       SUN5 (By similarity). Interacts with IQUB (By similarity).
CC       {ECO:0000250|UniProtKB:Q80Y75, ECO:0000269|PubMed:27486783}.
CC   -!- INTERACTION:
CC       P59910; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-11514233, EBI-739467;
CC       P59910; Q969G2: LHX4; NbExp=3; IntAct=EBI-11514233, EBI-2865388;
CC       P59910; Q99750: MDFI; NbExp=3; IntAct=EBI-11514233, EBI-724076;
CC       P59910; Q4VC12: MSS51; NbExp=3; IntAct=EBI-11514233, EBI-11599933;
CC       P59910; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-11514233, EBI-14066006;
CC       P59910; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-11514233, EBI-79165;
CC       P59910; O00444: PLK4; NbExp=3; IntAct=EBI-11514233, EBI-746202;
CC       P59910; Q96QF0-7: RAB3IP; NbExp=3; IntAct=EBI-11514233, EBI-11984839;
CC       P59910; Q8WYJ6: SEPTIN1; NbExp=3; IntAct=EBI-11514233, EBI-693002;
CC       P59910; O75674-2: TOM1L1; NbExp=3; IntAct=EBI-11514233, EBI-12011552;
CC       P59910; Q5D1E8: ZC3H12A; NbExp=3; IntAct=EBI-11514233, EBI-747793;
CC       P59910; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-11514233, EBI-527853;
CC       P59910; B4URF7: PB2; Xeno; NbExp=2; IntAct=EBI-11514233, EBI-6050648;
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC       {ECO:0000269|PubMed:27486783}. Note=Localizes both to epithelial motile
CC       cilium and the sperm flagellum (PubMed:27486783). In spermatids,
CC       rapidly enriched in the coupling apparatus with the elongation of the
CC       spermatid. Tightly attached to the implantation fossa during the
CC       maturation of the spermatid. In mature spermatzoa evenly distributed
CC       along the flagellum (By similarity). {ECO:0000250|UniProtKB:Q80Y75,
CC       ECO:0000269|PubMed:27486783}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=P59910-1; Sequence=Displayed;
CC       Name=2; Synonyms=TSARG5;
CC         IsoId=P59910-2; Sequence=VSP_008519, VSP_008520;
CC   -!- TISSUE SPECIFICITY: Specifically expressed in testis and trachea.
CC       {ECO:0000269|PubMed:27486783}.
CC   -!- DISEASE: Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091]: A form
CC       of primary ciliary dyskinesia, a disorder characterized by
CC       abnormalities of motile cilia. Respiratory infections leading to
CC       chronic inflammation and bronchiectasis are recurrent, due to defects
CC       in the respiratory cilia. CILD34 inheritance is autosomal recessive.
CC       {ECO:0000269|PubMed:27486783}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
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DR   EMBL; AF419291; AAN32702.1; ALT_SEQ; mRNA.
DR   EMBL; AF516185; AAP47195.1; -; mRNA.
DR   EMBL; AY138810; AAN15929.1; -; mRNA.
DR   EMBL; AY325766; AAQ17190.1; -; mRNA.
DR   EMBL; AP003717; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471076; EAW74920.1; -; Genomic_DNA.
DR   CCDS; CCDS8227.1; -. [P59910-1]
DR   RefSeq; NP_705842.2; NM_153614.3. [P59910-1]
DR   PDB; 8J07; EM; 4.10 A; U/V/u/v=1-316.
DR   PDBsum; 8J07; -.
DR   AlphaFoldDB; P59910; -.
DR   EMDB; EMD-35888; -.
DR   SMR; P59910; -.
DR   BioGRID; 131900; 46.
DR   ComplexPortal; CPX-8163; Radial spoke complex, ciliiar variant.
DR   ComplexPortal; CPX-8164; Radial spoke complex, flagellar variant.
DR   IntAct; P59910; 14.
DR   MINT; P59910; -.
DR   STRING; 9606.ENSP00000344431; -.
DR   iPTMnet; P59910; -.
DR   PhosphoSitePlus; P59910; -.
DR   BioMuta; DNAJB13; -.
DR   DMDM; 41704179; -.
DR   MassIVE; P59910; -.
DR   PaxDb; 9606-ENSP00000344431; -.
DR   PeptideAtlas; P59910; -.
DR   ProteomicsDB; 57169; -. [P59910-1]
DR   ProteomicsDB; 57170; -. [P59910-2]
DR   Antibodypedia; 31001; 97 antibodies from 22 providers.
DR   DNASU; 374407; -.
DR   Ensembl; ENST00000339764.6; ENSP00000344431.1; ENSG00000187726.9. [P59910-1]
DR   Ensembl; ENST00000537753.5; ENSP00000439711.1; ENSG00000187726.9. [P59910-2]
DR   Ensembl; ENST00000543947.1; ENSP00000438576.1; ENSG00000187726.9. [P59910-2]
DR   GeneID; 374407; -.
DR   KEGG; hsa:374407; -.
DR   MANE-Select; ENST00000339764.6; ENSP00000344431.1; NM_153614.4; NP_705842.2.
DR   UCSC; uc001ouo.3; human. [P59910-1]
DR   AGR; HGNC:30718; -.
DR   CTD; 374407; -.
DR   DisGeNET; 374407; -.
DR   GeneCards; DNAJB13; -.
DR   HGNC; HGNC:30718; DNAJB13.
DR   HPA; ENSG00000187726; Group enriched (choroid plexus, fallopian tube, testis).
DR   MalaCards; DNAJB13; -.
DR   MIM; 610263; gene.
DR   MIM; 617091; phenotype.
DR   neXtProt; NX_P59910; -.
DR   OpenTargets; ENSG00000187726; -.
DR   Orphanet; 244; Primary ciliary dyskinesia.
DR   PharmGKB; PA142671972; -.
DR   VEuPathDB; HostDB:ENSG00000187726; -.
DR   eggNOG; KOG0714; Eukaryota.
DR   GeneTree; ENSGT00940000158090; -.
DR   HOGENOM; CLU_017633_10_2_1; -.
DR   InParanoid; P59910; -.
DR   OMA; SSKYVYH; -.
DR   OrthoDB; 2785358at2759; -.
DR   PhylomeDB; P59910; -.
DR   TreeFam; TF105141; -.
DR   PathwayCommons; P59910; -.
DR   SignaLink; P59910; -.
DR   BioGRID-ORCS; 374407; 32 hits in 1155 CRISPR screens.
DR   ChiTaRS; DNAJB13; human.
DR   GenomeRNAi; 374407; -.
DR   Pharos; P59910; Tbio.
DR   PRO; PR:P59910; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   RNAct; P59910; Protein.
DR   Bgee; ENSG00000187726; Expressed in right uterine tube and 114 other cell types or tissues.
DR   ExpressionAtlas; P59910; baseline and differential.
DR   GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR   GO; GO:0031514; C:motile cilium; IDA:UniProtKB.
DR   GO; GO:0001534; C:radial spoke; ISS:UniProtKB.
DR   GO; GO:0097224; C:sperm connecting piece; ISS:UniProtKB.
DR   GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR   GO; GO:0051087; F:protein-folding chaperone binding; IBA:GO_Central.
DR   GO; GO:0051082; F:unfolded protein binding; IBA:GO_Central.
DR   GO; GO:1904158; P:axonemal central apparatus assembly; IMP:UniProtKB.
DR   GO; GO:0051085; P:chaperone cofactor-dependent protein refolding; IBA:GO_Central.
DR   CDD; cd06257; DnaJ; 1.
DR   CDD; cd10747; DnaJ_C; 1.
DR   Gene3D; 1.10.287.110; DnaJ domain; 1.
DR   Gene3D; 2.60.260.20; Urease metallochaperone UreE, N-terminal domain; 2.
DR   InterPro; IPR002939; DnaJ_C.
DR   InterPro; IPR001623; DnaJ_domain.
DR   InterPro; IPR018253; DnaJ_domain_CS.
DR   InterPro; IPR008971; HSP40/DnaJ_pept-bd.
DR   InterPro; IPR036869; J_dom_sf.
DR   PANTHER; PTHR24078:SF553; DNAJ HOMOLOG SUBFAMILY B MEMBER 13; 1.
DR   PANTHER; PTHR24078; DNAJ HOMOLOG SUBFAMILY C MEMBER; 1.
DR   Pfam; PF00226; DnaJ; 1.
DR   Pfam; PF01556; DnaJ_C; 1.
DR   PRINTS; PR00625; JDOMAIN.
DR   SMART; SM00271; DnaJ; 1.
DR   SUPFAM; SSF46565; Chaperone J-domain; 1.
DR   SUPFAM; SSF49493; HSP40/DnaJ peptide-binding domain; 2.
DR   PROSITE; PS00636; DNAJ_1; 1.
DR   PROSITE; PS50076; DNAJ_2; 1.
DR   Genevisible; P59910; HS.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Cell projection; Chaperone; Ciliopathy;
KW   Cilium; Cilium biogenesis/degradation; Disease variant; Flagellum;
KW   Primary ciliary dyskinesia; Reference proteome.
FT   CHAIN           1..316
FT                   /note="DnaJ homolog subfamily B member 13"
FT                   /id="PRO_0000071039"
FT   DOMAIN          4..68
FT                   /note="J"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00286"
FT   VAR_SEQ         1..175
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:12673577"
FT                   /id="VSP_008519"
FT   VAR_SEQ         176..201
FT                   /note="KDKILTIDVKPGWRQGTRITFEKEGD -> METSRGRNLAKVTRPTSPCHLL
FT                   ASPA (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:12673577"
FT                   /id="VSP_008520"
FT   VARIANT         278
FT                   /note="M -> R (in CILD34; loss of expression in patient
FT                   cells; increased proteasome-mediated degradation; no effect
FT                   on homodimerization; dbSNP:rs754776389)"
FT                   /evidence="ECO:0000269|PubMed:27486783"
FT                   /id="VAR_077053"
SQ   SEQUENCE   316 AA;  36118 MW;  8251CB720724B7E5 CRC64;
     MGQDYYSVLG ITRNSEDAQI KQAYRRLALK HHPLKSNEPS SAEIFRQIAE AYDVLSDPMK
     RGIYDKFGEE GLKGGIPLEF GSQTPWTTGY VFHGKPEKVF HEFFGGNNPF SEFFDAEGSE
     VDLNFGGLQG RGVKKQDPQV ERDLYLSLED LFFGCTKKIK ISRRVLNEDG YSSTIKDKIL
     TIDVKPGWRQ GTRITFEKEG DQGPNIIPAD IIFIVKEKLH PRFRRENDNL FFVNPIPLGK
     ALTCCTVEVR TLDDRLLNIP INDIIHPKYF KKVPGEGMPL PEDPTKKGDL FIFFDIQFPT
     RLTPQKKQML RQALLT
//