ACTL9_MOUSE
ID ACTL9_MOUSE Reviewed; 415 AA.
AC Q8CG27; Q497R1; Q5EBK5;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 96.
DE RecName: Full=Actin-like protein 9;
GN Name=Actl9; Synonyms=Actl7c;
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;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=129/Sv;
RA Brathwaite M.E., Waeltz P., Qian Y., Dudekula D., Schlessinger D.,
RA Nagaraja R.;
RT "Genomic sequence analysis in the mouse T-complex region.";
RL Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 144-415.
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 [3]
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 [4]
RP FUNCTION, AND MUTAGENESIS OF VAL-379.
RX PubMed=33626338; DOI=10.1016/j.ajhg.2021.02.004;
RA Dai J., Zhang T., Guo J., Zhou Q., Gu Y., Zhang J., Hu L., Zong Y.,
RA Song J., Zhang S., Dai C., Gong F., Lu G., Zheng W., Lin G.;
RT "Homozygous pathogenic variants in ACTL9 cause fertilization failure and
RT male infertility in humans and mice.";
RL Am. J. Hum. Genet. 108:469-481(2021).
CC -!- FUNCTION: Testis-specic protein that plays an important role in fusion
CC of proacrosomal vesicles and perinuclear theca formation.
CC {ECO:0000269|PubMed:33626338}.
CC -!- SUBUNIT: Interacts with ACTL7A. {ECO:0000250|UniProtKB:Q8TC94}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000250|UniProtKB:Q8TC94}. Cytoplasm, cytoskeleton, perinuclear
CC theca {ECO:0000250|UniProtKB:Q8TC94}. Note=Localizes predominantly in
CC the equatorial segment of the sperm head and neck regions, with some
CC localization in the acrosomal segment of the head. Colocalizes in the
CC acrosomal and equatorial segments of sperm with ACTL7A. Colocalizes
CC with PLCZ1 in the equatorial segment of the head of capacitated sperm.
CC {ECO:0000250|UniProtKB:Q8TC94}.
CC -!- SIMILARITY: Belongs to the actin family. {ECO:0000305}.
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DR EMBL; AF528163; AAO17383.1; -; Genomic_DNA.
DR EMBL; BC089487; AAH89487.1; -; mRNA.
DR EMBL; BC100422; AAI00423.1; -; mRNA.
DR CCDS; CCDS57063.1; -.
DR RefSeq; NP_899105.2; NM_183282.2.
DR AlphaFoldDB; Q8CG27; -.
DR SMR; Q8CG27; -.
DR STRING; 10090.ENSMUSP00000134564; -.
DR iPTMnet; Q8CG27; -.
DR PhosphoSitePlus; Q8CG27; -.
DR PaxDb; Q8CG27; -.
DR PRIDE; Q8CG27; -.
DR ProteomicsDB; 285752; -.
DR Antibodypedia; 12540; 119 antibodies from 19 providers.
DR DNASU; 69481; -.
DR Ensembl; ENSMUST00000174088; ENSMUSP00000134564; ENSMUSG00000092519.
DR GeneID; 69481; -.
DR KEGG; mmu:69481; -.
DR UCSC; uc008byl.1; mouse.
DR CTD; 284382; -.
DR MGI; MGI:1916731; Actl9.
DR VEuPathDB; HostDB:ENSMUSG00000092519; -.
DR eggNOG; KOG0676; Eukaryota.
DR GeneTree; ENSGT00940000163012; -.
DR HOGENOM; CLU_027965_0_2_1; -.
DR InParanoid; Q8CG27; -.
DR OMA; MYVAYQS; -.
DR OrthoDB; 649708at2759; -.
DR PhylomeDB; Q8CG27; -.
DR TreeFam; TF354237; -.
DR BioGRID-ORCS; 69481; 1 hit in 73 CRISPR screens.
DR ChiTaRS; Actl9; mouse.
DR PRO; PR:Q8CG27; -.
DR Proteomes; UP000000589; Chromosome 17.
DR RNAct; Q8CG27; protein.
DR Bgee; ENSMUSG00000092519; Expressed in seminiferous tubule of testis and 18 other tissues.
DR Genevisible; Q8CG27; MM.
DR GO; GO:0001669; C:acrosomal vesicle; ISS:UniProtKB.
DR GO; GO:0005869; C:dynactin complex; IBA:GO_Central.
DR GO; GO:0033011; C:perinuclear theca; ISS:UniProtKB.
DR GO; GO:0061827; C:sperm head; ISS:UniProtKB.
DR GO; GO:0001675; P:acrosome assembly; IMP:UniProtKB.
DR GO; GO:0009566; P:fertilization; IMP:UniProtKB.
DR GO; GO:0007338; P:single fertilization; IEA:UniProtKB-KW.
DR InterPro; IPR004000; Actin.
DR InterPro; IPR030074; ACTL9.
DR InterPro; IPR043129; ATPase_NBD.
DR PANTHER; PTHR11937; PTHR11937; 1.
DR PANTHER; PTHR11937:SF194; PTHR11937:SF194; 1.
DR Pfam; PF00022; Actin; 1.
DR PRINTS; PR00190; ACTIN.
DR SMART; SM00268; ACTIN; 1.
DR SUPFAM; SSF53067; SSF53067; 2.
PE 1: Evidence at protein level;
KW Cytoplasm; Cytoplasmic vesicle; Cytoskeleton; Fertilization;
KW Reference proteome.
FT CHAIN 1..415
FT /note="Actin-like protein 9"
FT /id="PRO_0000332298"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MUTAGEN 379
FT /note="V->L: Homozygous knockin male mice are infertile.
FT Testis size, sperm concentration, viability and motility
FT are normal. However the acrosome is detached from the
FT nuclear envelope in sperm. Proacrosomal vesicles in the
FT Golgi phase are atypical and separated in testis and they
FT failed to fuse in the cap phase."
FT /evidence="ECO:0000269|PubMed:33626338"
FT CONFLICT 175
FT /note="Y -> C (in Ref. 2; AAH89487)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 415 AA; 45771 MW; 990E1896821F8BFC CRC64;
MDVNGHPKFQ PSPETDGPLP LTSSTLMVSK SLQQDSLSMV GDRLPPKTGA VVIDMGTGTC
KVGFAGQSQP TYTVATILGC QPKKQATKDQ SELETFIGEA ARSRPELRLV KPIRNGIVVD
WEAAELIWRH ILEHDLQVAT HEHPLLFSDP PFSPATNREK LVEVAFESLH SPALYVASQS
VLSVYAHGRV NGLVVDTGHG VSYTVPVVQG YNLPHAIQRL DLAGNHLTAF LAEMLLGSGF
SLQQEDLDLV ENIKHHYCYL APDFQKEQAR PDEECKQSLK LPDGRTVTLG KELFQCPELL
FHPPEIPGLS PIGLPAMAEQ SLLKVPQELR PHVARNVILC GGSSLFTGLE GRFRAELLHS
LSPEDHVVVM AHPNRNLSVW IGGSILASLH AFQSCWVLRE QYEERGPQVV YRKCY
