DAAF6_MOUSE
ID DAAF6_MOUSE Reviewed; 218 AA.
AC Q3KNI6;
DT 07-JAN-2015, integrated into UniProtKB/Swiss-Prot.
DT 08-NOV-2005, sequence version 1.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=Dynein axonemal assembly factor 6 {ECO:0000250|UniProtKB:Q9NQM4};
DE AltName: Full=PIH1 domain-containing protein 3 {ECO:0000305};
GN Name=Dnaaf6 {ECO:0000312|MGI:MGI:1921958};
GN Synonyms=Pih1d3 {ECO:0000303|PubMed:24421334};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090 {ECO:0000312|EMBL:AAI07263.1};
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [5]
RP DISRUPTION PHENOTYPE, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION,
RP AND INTERACTION WITH HSPA1A/B; HSP90AA1 AND WITH DNAI2.
RX PubMed=24421334; DOI=10.1083/jcb.201304076;
RA Dong F., Shinohara K., Botilde Y., Nabeshima R., Asai Y., Fukumoto A.,
RA Hasegawa T., Matsuo M., Takeda H., Shiratori H., Nakamura T., Hamada H.;
RT "Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse
RT sperm.";
RL J. Cell Biol. 204:203-213(2014).
CC -!- FUNCTION: Plays a role in cytoplasmic pre-assembly of axonemal dynein.
CC {ECO:0000269|PubMed:24421334}.
CC -!- SUBUNIT: Interacts with HSPA1A/B, HSP90AA1 and DNAI2 (PubMed:24421334).
CC Interacts with DNAAF2 and DNAAF4 (By similarity).
CC {ECO:0000250|UniProtKB:Q9NQM4, ECO:0000269|PubMed:24421334}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24421334}. Golgi
CC apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q9NQM4}.
CC Note=Localized to the cytoplasm of spermatogenic cells.
CC {ECO:0000269|PubMed:24421334}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in testis. Detected in
CC pachytene spermatocytes from 5 weeks of age and in pachytene and
CC diplotene spermatocytes of adult mice. Not detected in spermatids or
CC mature sperm. {ECO:0000269|PubMed:24421334}.
CC -!- DISRUPTION PHENOTYPE: Deficient mice develop normally but manifest male
CC sterility. Sperm are immotile and fragile with the axoneme of the
CC flagellum lacking outer dynein arms (ODAs) and inner dynein arms (IDAs)
CC and showing a disturbed microtubules organization.
CC {ECO:0000269|PubMed:24421334}.
CC -!- SIMILARITY: Belongs to the PIH1 family. {ECO:0000305}.
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DR EMBL; AC121888; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466536; EDL14429.1; -; Genomic_DNA.
DR EMBL; BC107262; AAI07263.1; -; mRNA.
DR CCDS; CCDS35531.1; -.
DR RefSeq; NP_083338.1; NM_029062.2.
DR AlphaFoldDB; Q3KNI6; -.
DR STRING; 10090.ENSMUSP00000127665; -.
DR iPTMnet; Q3KNI6; -.
DR PhosphoSitePlus; Q3KNI6; -.
DR MaxQB; Q3KNI6; -.
DR PaxDb; Q3KNI6; -.
DR PRIDE; Q3KNI6; -.
DR ProteomicsDB; 289895; -.
DR Ensembl; ENSMUST00000027230; ENSMUSP00000127665; ENSMUSG00000026063.
DR GeneID; 74708; -.
DR KEGG; mmu:74708; -.
DR UCSC; uc007anm.1; mouse.
DR CTD; 139212; -.
DR MGI; MGI:1921958; Dnaaf6.
DR VEuPathDB; HostDB:ENSMUSG00000026063; -.
DR eggNOG; ENOG502RZWX; Eukaryota.
DR GeneTree; ENSGT00390000015219; -.
DR HOGENOM; CLU_106090_1_0_1; -.
DR InParanoid; Q3KNI6; -.
DR OMA; VECNSAR; -.
DR OrthoDB; 1561656at2759; -.
DR PhylomeDB; Q3KNI6; -.
DR TreeFam; TF325677; -.
DR BioGRID-ORCS; 74708; 1 hit in 74 CRISPR screens.
DR PRO; PR:Q3KNI6; -.
DR Proteomes; UP000000589; Chromosome 1.
DR RNAct; Q3KNI6; protein.
DR Bgee; ENSMUSG00000026063; Expressed in spermatocyte and 4 other tissues.
DR Genevisible; Q3KNI6; MM.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0005802; C:trans-Golgi network; ISS:UniProtKB.
DR GO; GO:0051087; F:chaperone binding; IDA:MGI.
DR GO; GO:0045505; F:dynein intermediate chain binding; ISS:UniProtKB.
DR GO; GO:0070286; P:axonemal dynein complex assembly; IMP:MGI.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:MGI.
DR GO; GO:0036159; P:inner dynein arm assembly; ISS:UniProtKB.
DR GO; GO:0036158; P:outer dynein arm assembly; ISS:UniProtKB.
DR InterPro; IPR026697; DNAAF6.
DR InterPro; IPR041442; PIH1D1/2/3_CS-like.
DR PANTHER; PTHR21083; PTHR21083; 1.
DR Pfam; PF18201; PIH1_CS; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Golgi apparatus; Reference proteome.
FT CHAIN 1..218
FT /note="Dynein axonemal assembly factor 6"
FT /id="PRO_0000431551"
FT REGION 66..103
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 79..103
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 218 AA; 24501 MW; A6262FE9FA8369C2 CRC64;
MESENAEAEN VVTGNLEAKS KEGKNMQFVT LSSAWSLQAL SSLLNPEEED GFDFEQGQCS
FTIGAMGPGN IGPPKAKESK AIPEPRSDES ENIWNPEEVP EGAEHDDIWD VREIPDYEIV
FQQTVGTEDV YLGLTRKDPS TACCQELVVK IKLPNTNPSE IQIDIQEMLL DLRTPRKKLL
VNFPQPVERN SARASYIWEA ETLEVRMTVQ RDLDFNIS
