DAAF8_HUMAN
ID DAAF8_HUMAN Reviewed; 520 AA.
AC Q8IYS4; Q8NCV0;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Dynein axonemal assembly factor 8 {ECO:0000305};
DE AltName: Full=Dynein axonemal-associated protein 1 {ECO:0000303|PubMed:33263282};
GN Name=DNAAF8 {ECO:0000312|HGNC:HGNC:25081};
GN Synonyms=C16orf71, DAAP1 {ECO:0000303|PubMed:33263282};
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 [LARGE SCALE MRNA], AND VARIANTS CYS-302 AND ARG-354.
RC TISSUE=Testis;
RA Guo J.H., Yu L.;
RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS CYS-302; ARG-354 AND
RP LEU-465.
RC TISSUE=Testis;
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 SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=33263282; DOI=10.7554/elife.58662;
RA Lee C., Cox R.M., Papoulas O., Horani A., Drew K., Devitt C.C., Brody S.L.,
RA Marcotte E.M., Wallingford J.B.;
RT "Functional partitioning of a liquid-like organelle during assembly of
RT axonemal dyneins.";
RL Elife 9:0-0(2020).
CC -!- FUNCTION: In cyliated cells, dynein axonemal particle-specific protein
CC required for deployment of ODA to the axoneme. Interacts with outer
CC dynein arm (ODA) subunits. {ECO:0000250|UniProtKB:A0A1L8EYB2}.
CC -!- SUBCELLULAR LOCATION: Dynein axonemal particle
CC {ECO:0000269|PubMed:33263282}.
CC -!- TISSUE SPECIFICITY: Expressed in respiratory ciliated cells (at protein
CC level). {ECO:0000269|PubMed:33263282}.
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DR EMBL; AF447587; AAM22870.1; -; mRNA.
DR EMBL; AC020663; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC035024; AAH35024.1; -; mRNA.
DR CCDS; CCDS10521.1; -.
DR RefSeq; NP_631909.2; NM_139170.2.
DR RefSeq; XP_016878465.1; XM_017022976.1.
DR AlphaFoldDB; Q8IYS4; -.
DR SMR; Q8IYS4; -.
DR BioGRID; 126999; 31.
DR IntAct; Q8IYS4; 25.
DR STRING; 9606.ENSP00000299320; -.
DR iPTMnet; Q8IYS4; -.
DR PhosphoSitePlus; Q8IYS4; -.
DR BioMuta; C16orf71; -.
DR DMDM; 296439389; -.
DR jPOST; Q8IYS4; -.
DR MassIVE; Q8IYS4; -.
DR PaxDb; Q8IYS4; -.
DR PeptideAtlas; Q8IYS4; -.
DR PRIDE; Q8IYS4; -.
DR ProteomicsDB; 71223; -.
DR Antibodypedia; 24407; 55 antibodies from 18 providers.
DR DNASU; 146562; -.
DR Ensembl; ENST00000299320.10; ENSP00000299320.4; ENSG00000166246.14.
DR GeneID; 146562; -.
DR KEGG; hsa:146562; -.
DR MANE-Select; ENST00000299320.10; ENSP00000299320.4; NM_139170.3; NP_631909.2.
DR UCSC; uc002cxn.4; human.
DR CTD; 146562; -.
DR GeneCards; DNAAF8; -.
DR HGNC; HGNC:25081; DNAAF8.
DR HPA; ENSG00000166246; Group enriched (fallopian tube, testis).
DR neXtProt; NX_Q8IYS4; -.
DR OpenTargets; ENSG00000166246; -.
DR VEuPathDB; HostDB:ENSG00000166246; -.
DR eggNOG; ENOG502SAQ4; Eukaryota.
DR GeneTree; ENSGT00390000015381; -.
DR HOGENOM; CLU_037635_0_0_1; -.
DR InParanoid; Q8IYS4; -.
DR OrthoDB; 1111863at2759; -.
DR PhylomeDB; Q8IYS4; -.
DR TreeFam; TF336688; -.
DR PathwayCommons; Q8IYS4; -.
DR SignaLink; Q8IYS4; -.
DR BioGRID-ORCS; 146562; 18 hits in 1038 CRISPR screens.
DR GenomeRNAi; 146562; -.
DR Pharos; Q8IYS4; Tdark.
DR PRO; PR:Q8IYS4; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8IYS4; protein.
DR Bgee; ENSG00000166246; Expressed in left testis and 111 other tissues.
DR ExpressionAtlas; Q8IYS4; baseline and differential.
DR Genevisible; Q8IYS4; HS.
DR GO; GO:0120293; C:dynein axonemal particle; IDA:UniProtKB.
DR GO; GO:0070840; F:dynein complex binding; ISS:UniProtKB.
DR GO; GO:0036158; P:outer dynein arm assembly; ISS:UniProtKB.
DR InterPro; IPR031531; DNAAF8.
DR PANTHER; PTHR35977; PTHR35977; 1.
DR Pfam; PF15773; DUF4701; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Phosphoprotein; Reference proteome.
FT CHAIN 1..520
FT /note="Dynein axonemal assembly factor 8"
FT /id="PRO_0000294345"
FT REGION 93..202
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 217..256
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 328..366
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 388..520
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 423..444
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 161
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5XIK6"
FT MOD_RES 351
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5XIK6"
FT VARIANT 88
FT /note="E -> D (in dbSNP:rs17137215)"
FT /id="VAR_033157"
FT VARIANT 143
FT /note="P -> S (in dbSNP:rs17137230)"
FT /id="VAR_033158"
FT VARIANT 190
FT /note="S -> L (in dbSNP:rs35599524)"
FT /id="VAR_033159"
FT VARIANT 232
FT /note="E -> K (in dbSNP:rs35002791)"
FT /id="VAR_033160"
FT VARIANT 241
FT /note="A -> V (in dbSNP:rs7202010)"
FT /id="VAR_033161"
FT VARIANT 302
FT /note="R -> C (in dbSNP:rs2075469)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_033162"
FT VARIANT 354
FT /note="Q -> R (in dbSNP:rs737700)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_033163"
FT VARIANT 465
FT /note="P -> L (in dbSNP:rs17853375)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_061618"
FT CONFLICT 19
FT /note="Q -> R (in Ref. 3; AAH35024)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 520 AA; 55682 MW; 1E160E14948B36E3 CRC64;
MASNDKGMAP SLGSPWASQM GPWDAILKAV KDQLPSLDSD SPLSDYGEEE LFIFQRNQTS
LIPDLSEELA EDPADGDKSR AWVAAAEESL PEPVLVPAEL ATEPGCRQNT RTKDASSQEG
RDPGRPFESS GEVSALLGMA EEPPRWLEGD LGSLSFNTKG SQGPPWDPQA EATLSCHEGD
PKAEPLSTAS QESVNRRALR QERRKMIETD ILQKVTRDAC GPTSSDKGGV KEAPCHAAES
APRSKMPLVE PPEGPPVLSL QQLEAWDLDD ILQSLAGQED NQGNRAPGTV WWAADHRQVQ
DRMVPSAHNR LMEQLALLCT TQSKASACAR KVPADTPQDT KEADSGSRCA SRKQGSQAGP
GPQLAQGMRL NAESPTIFID LRQMELPDHL SPESSSHSSS DSEEEEEEEM AALGDAEGAS
PSSLGLRTCT GKSQLLQQLR AFQKGTAQPE LPASKGPAGG RAQAPEDTAG SRTGRKQHMK
LCAKGQSAQA RLPRGRPRAL GDVPEPGAAR EALMPPLEQL
