DJB13_HUMAN
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 03-AUG-2022, entry version 149.
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: Plays a role in the formation of the central complex of
CC ciliary and flagellar axonemes. {ECO:0000250|UniProtKB:Q80Y75,
CC ECO:0000269|PubMed:27486783}.
CC -!- SUBUNIT: Homodimer (PubMed:27486783). Interacts with SUN5 (By
CC similarity). {ECO:0000250|UniProtKB:Q80Y75,
CC 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 AlphaFoldDB; P59910; -.
DR SMR; P59910; -.
DR BioGRID; 131900; 46.
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; P59910; -.
DR PeptideAtlas; P59910; -.
DR PRIDE; P59910; -.
DR ProteomicsDB; 57169; -. [P59910-1]
DR ProteomicsDB; 57170; -. [P59910-2]
DR Antibodypedia; 31001; 87 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 CTD; 374407; -.
DR DisGeNET; 374407; -.
DR GeneCards; DNAJB13; -.
DR HGNC; HGNC:30718; DNAJB13.
DR HPA; ENSG00000187726; Tissue enhanced (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; AMQKFRI; -.
DR OrthoDB; 1393097at2759; -.
DR PhylomeDB; P59910; -.
DR TreeFam; TF105141; -.
DR PathwayCommons; P59910; -.
DR SignaLink; P59910; -.
DR BioGRID-ORCS; 374407; 32 hits in 1077 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 112 other tissues.
DR ExpressionAtlas; P59910; baseline and differential.
DR Genevisible; P59910; HS.
DR GO; GO:0005930; C:axoneme; IEA:Ensembl.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0031514; C:motile cilium; IDA: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: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 Gene3D; 1.10.287.110; -; 1.
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 Pfam; PF00226; DnaJ; 1.
DR Pfam; PF01556; DnaJ_C; 1.
DR PRINTS; PR00625; JDOMAIN.
DR SMART; SM00271; DnaJ; 1.
DR SUPFAM; SSF46565; SSF46565; 1.
DR SUPFAM; SSF49493; SSF49493; 2.
DR PROSITE; PS00636; DNAJ_1; 1.
DR PROSITE; PS50076; DNAJ_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Chaperone; Ciliopathy; Cilium;
KW 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
