CF97D_HUMAN
ID CF97D_HUMAN Reviewed; 164 AA.
AC B2RV13;
DT 23-MAR-2010, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-2008, sequence version 1.
DT 03-AUG-2022, entry version 89.
DE RecName: Full=Sperm axonemal maintenance protein CFAP97D1 {ECO:0000305};
DE AltName: Full=CFAP97 domain-containing protein 1;
GN Name=CFAP97D1 {ECO:0000312|HGNC:HGNC:37241}; Synonyms=C17orf105;
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 GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
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 [3]
RP TISSUE SPECIFICITY.
RX PubMed=32785227; DOI=10.1371/journal.pgen.1008954;
RA Oura S., Kazi S., Savolainen A., Nozawa K., Castaneda J., Yu Z., Miyata H.,
RA Matzuk R.M., Hansen J.N., Wachten D., Matzuk M.M.,
RA Prunskaite-Hyyrylaeinen R.;
RT "Cfap97d1 is important for flagellar axoneme maintenance and male mouse
RT fertility.";
RL PLoS Genet. 16:e1008954-e1008954(2020).
CC -!- FUNCTION: Required for male fertility through its role in axonemal
CC doublet stabilization which is essential for sperm motility and
CC fertilization. {ECO:0000250|UniProtKB:Q9DAN9}.
CC -!- INTERACTION:
CC B2RV13; P41182: BCL6; NbExp=3; IntAct=EBI-12870048, EBI-765407;
CC -!- TISSUE SPECIFICITY: Expressed exclusively in testis.
CC {ECO:0000269|PubMed:32785227}.
CC -!- SIMILARITY: Belongs to the CFAP97 family. {ECO:0000305}.
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DR EMBL; AC003098; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC146971; AAI46972.1; -; mRNA.
DR CCDS; CCDS45695.1; -.
DR RefSeq; NP_001129955.1; NM_001136483.1.
DR RefSeq; XP_011522935.1; XM_011524633.1.
DR AlphaFoldDB; B2RV13; -.
DR SMR; B2RV13; -.
DR BioGRID; 129747; 8.
DR IntAct; B2RV13; 6.
DR STRING; 9606.ENSP00000415662; -.
DR iPTMnet; B2RV13; -.
DR PhosphoSitePlus; B2RV13; -.
DR BioMuta; C17orf105; -.
DR jPOST; B2RV13; -.
DR MassIVE; B2RV13; -.
DR PaxDb; B2RV13; -.
DR PeptideAtlas; B2RV13; -.
DR PRIDE; B2RV13; -.
DR ProteomicsDB; 3459; -.
DR Antibodypedia; 29596; 15 antibodies from 10 providers.
DR DNASU; 284067; -.
DR Ensembl; ENST00000449302.8; ENSP00000415662.2; ENSG00000231256.8.
DR GeneID; 284067; -.
DR KEGG; hsa:284067; -.
DR MANE-Select; ENST00000449302.8; ENSP00000415662.2; NM_001136483.3; NP_001129955.1.
DR UCSC; uc002ieg.4; human.
DR CTD; 284067; -.
DR GeneCards; CFAP97D1; -.
DR HGNC; HGNC:37241; CFAP97D1.
DR HPA; ENSG00000231256; Tissue enriched (testis).
DR MIM; 619866; gene.
DR neXtProt; NX_B2RV13; -.
DR OpenTargets; ENSG00000231256; -.
DR PharmGKB; PA165431514; -.
DR VEuPathDB; HostDB:ENSG00000231256; -.
DR eggNOG; ENOG502S44E; Eukaryota.
DR GeneTree; ENSGT00390000018148; -.
DR HOGENOM; CLU_097298_2_0_1; -.
DR InParanoid; B2RV13; -.
DR OMA; HKNRVQI; -.
DR OrthoDB; 1518257at2759; -.
DR PhylomeDB; B2RV13; -.
DR TreeFam; TF325279; -.
DR PathwayCommons; B2RV13; -.
DR SignaLink; B2RV13; -.
DR BioGRID-ORCS; 284067; 19 hits in 1037 CRISPR screens.
DR GenomeRNAi; 284067; -.
DR Pharos; B2RV13; Tdark.
DR PRO; PR:B2RV13; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; B2RV13; protein.
DR Bgee; ENSG00000231256; Expressed in sperm and 40 other tissues.
DR ExpressionAtlas; B2RV13; baseline and differential.
DR Genevisible; B2RV13; HS.
DR GO; GO:0007288; P:sperm axoneme assembly; ISS:UniProtKB.
DR InterPro; IPR038792; CFAP97D1/2.
DR InterPro; IPR029488; Hmw/CFAP97.
DR PANTHER; PTHR33768; PTHR33768; 1.
DR Pfam; PF13879; Hmw_CFAP97; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Reference proteome.
FT CHAIN 1..164
FT /note="Sperm axonemal maintenance protein CFAP97D1"
FT /id="PRO_0000392549"
FT COILED 61..90
FT /evidence="ECO:0000255"
SQ SEQUENCE 164 AA; 19546 MW; A8C00E583BE704F2 CRC64;
MNNSLDYLAY PVIVSNHRQS TTFRKKLDFG HYVSHKNRIQ IAKPTVDTKP PVAHTNHILK
LSKLQGEQKK INKIEYENKQ LCQKIANAHR GPAKVDCWNE YFSKSLNRET RNRELVRITM
ENQGILKRLV DRKPHYDRRA SEIDWQNSRR YIRNTTRYLL SQNE
