ACL7A_HUMAN
ID ACL7A_HUMAN Reviewed; 435 AA.
AC Q9Y615; B2RC83; Q5JSV0;
DT 27-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Actin-like protein 7A;
DE AltName: Full=Actin-like-7-alpha;
GN Name=ACTL7A;
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 [GENOMIC DNA], AND TISSUE SPECIFICITY.
RX PubMed=10373328; DOI=10.1006/geno.1999.5848;
RA Chadwick B.P., Mull J., Helbling L.A., Gill S., Leyne M., Robbins C.M.,
RA Pinkett H.W., Makalowska I., Maayan C., Blumenfeld A., Axelrod F.B.,
RA Brownstein M., Gusella J.F., Slaugenhaupt S.A.;
RT "Cloning, mapping, and expression of two novel actin genes, actin-like-7A
RT (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia
RT candidate region on 9q31.";
RL Genomics 58:302-309(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS CYS-45 AND MET-340.
RC TISSUE=Blood;
RX PubMed=17644991;
RA Tanaka H., Hirose M., Tokuhiro K., Matsuoka Y., Miyagawa Y., Tsujimura A.,
RA Okuyama A., Nishimune Y.;
RT "Single nucleotide polymorphisms: discovery of the genetic causes of male
RT infertility.";
RL Soc. Reprod. Fertil. Suppl. 65:531-534(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [7]
RP X-RAY CRYSTALLOGRAPHY (2.62 ANGSTROMS) OF 1-65 IN COMPLEX WITH ENAH AND
RP TES, SUBUNIT, AND MUTAGENESIS OF ALA-31 AND ALA-41.
RX PubMed=21278383; DOI=10.1074/jbc.m110.171264;
RA Boeda B., Knowles P.P., Briggs D.C., Murray-Rust J., Soriano E.,
RA Garvalov B.K., McDonald N.Q., Way M.;
RT "Molecular recognition of the Tes LIM2-3 domains by the actin-related
RT protein Arp7A.";
RL J. Biol. Chem. 286:11543-11554(2011).
RN [8]
RP VARIANT THR-245, SUBCELLULAR LOCATION, AND FUNCTION.
RX PubMed=32923619; DOI=10.1126/sciadv.aaz4796;
RA Xin A., Qu R., Chen G., Zhang L., Chen J., Tao C., Fu J., Tang J., Ru Y.,
RA Chen Y., Peng X., Shi H., Zhang F., Sun X.;
RT "Disruption in ACTL7A causes acrosomal ultrastructural defects in human and
RT mouse sperm as a novel male factor inducing early embryonic arrest.";
RL Sci. Adv. 6:eaaz4796-eaaz4796(2020).
RN [9]
RP INTERACTION WITH ACTL9.
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: May play an important role in formation and fusion of Golgi-
CC derived vesicles during acrosome biogenesis.
CC {ECO:0000269|PubMed:32923619}.
CC -!- SUBUNIT: Interacts (via N-terminus) with TES (via LIM domain 2).
CC Heterodimer with TES; the heterodimer interacts with ENAH to form a
CC heterotrimer (PubMed:21278383). Interacts with ACTL9 (PubMed:33626338).
CC {ECO:0000269|PubMed:21278383, ECO:0000269|PubMed:33626338}.
CC -!- INTERACTION:
CC Q9Y615; Q9UGI8: TES; NbExp=9; IntAct=EBI-10825302, EBI-2561654;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:Q9QY84}. Golgi apparatus
CC {ECO:0000250|UniProtKB:Q9QY84}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q9QY84}. Nucleus {ECO:0000250|UniProtKB:Q9QY84}.
CC Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000269|PubMed:32923619}. Note=Detected at the Golgi apparatus
CC during acrosome biogenesis. Detected at the subacrosomal layer in round
CC spermatids. Detected in sperm head and tail.
CC {ECO:0000250|UniProtKB:Q9QY84}.
CC -!- TISSUE SPECIFICITY: Strongly expressed in testis. Also expressed in
CC other tissues. {ECO:0000269|PubMed:10373328}.
CC -!- SIMILARITY: Belongs to the actin family. {ECO:0000305}.
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DR EMBL; AF113526; AAD44109.1; -; Genomic_DNA.
DR EMBL; AB284520; BAF41971.1; -; Genomic_DNA.
DR EMBL; AK314981; BAG37480.1; -; mRNA.
DR EMBL; AL359692; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471105; EAW59026.1; -; Genomic_DNA.
DR EMBL; BC014610; AAH14610.1; -; mRNA.
DR CCDS; CCDS6772.1; -.
DR RefSeq; NP_006678.1; NM_006687.3.
DR PDB; 2XQN; X-ray; 2.62 A; A=1-65.
DR PDBsum; 2XQN; -.
DR AlphaFoldDB; Q9Y615; -.
DR SMR; Q9Y615; -.
DR BioGRID; 116089; 3.
DR IntAct; Q9Y615; 3.
DR STRING; 9606.ENSP00000334300; -.
DR iPTMnet; Q9Y615; -.
DR PhosphoSitePlus; Q9Y615; -.
DR BioMuta; ACTL7A; -.
DR DMDM; 27923725; -.
DR EPD; Q9Y615; -.
DR MassIVE; Q9Y615; -.
DR PaxDb; Q9Y615; -.
DR PeptideAtlas; Q9Y615; -.
DR PRIDE; Q9Y615; -.
DR ProteomicsDB; 86577; -.
DR Antibodypedia; 14911; 161 antibodies from 23 providers.
DR DNASU; 10881; -.
DR Ensembl; ENST00000333999.5; ENSP00000334300.3; ENSG00000187003.7.
DR GeneID; 10881; -.
DR KEGG; hsa:10881; -.
DR MANE-Select; ENST00000333999.5; ENSP00000334300.3; NM_006687.4; NP_006678.1.
DR UCSC; uc004bdj.3; human.
DR CTD; 10881; -.
DR DisGeNET; 10881; -.
DR GeneCards; ACTL7A; -.
DR HGNC; HGNC:161; ACTL7A.
DR HPA; ENSG00000187003; Tissue enriched (testis).
DR MIM; 604303; gene.
DR neXtProt; NX_Q9Y615; -.
DR OpenTargets; ENSG00000187003; -.
DR PharmGKB; PA24483; -.
DR VEuPathDB; HostDB:ENSG00000187003; -.
DR eggNOG; KOG0676; Eukaryota.
DR GeneTree; ENSGT00940000162158; -.
DR HOGENOM; CLU_027965_0_2_1; -.
DR InParanoid; Q9Y615; -.
DR OMA; MNNSGKH; -.
DR OrthoDB; 964605at2759; -.
DR PhylomeDB; Q9Y615; -.
DR TreeFam; TF354237; -.
DR PathwayCommons; Q9Y615; -.
DR SignaLink; Q9Y615; -.
DR BioGRID-ORCS; 10881; 14 hits in 1069 CRISPR screens.
DR ChiTaRS; ACTL7A; human.
DR EvolutionaryTrace; Q9Y615; -.
DR GeneWiki; ACTL7A; -.
DR GenomeRNAi; 10881; -.
DR Pharos; Q9Y615; Tbio.
DR PRO; PR:Q9Y615; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9Y615; protein.
DR Bgee; ENSG00000187003; Expressed in left testis and 65 other tissues.
DR ExpressionAtlas; Q9Y615; baseline and differential.
DR Genevisible; Q9Y615; HS.
DR GO; GO:0001669; C:acrosomal vesicle; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; TAS:ProtInc.
DR GO; GO:0005869; C:dynactin complex; IBA:GO_Central.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0001673; C:male germ cell nucleus; IEA:Ensembl.
DR GO; GO:0031514; C:motile cilium; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0032991; C:protein-containing complex; IDA:UniProtKB.
DR GO; GO:0005200; F:structural constituent of cytoskeleton; TAS:ProtInc.
DR GO; GO:0001675; P:acrosome assembly; ISS:UniProtKB.
DR GO; GO:0007338; P:single fertilization; IEA:UniProtKB-KW.
DR IDEAL; IID00687; -.
DR InterPro; IPR004000; Actin.
DR InterPro; IPR027679; ACTL7A.
DR InterPro; IPR031769; ACTL7A_N.
DR InterPro; IPR043129; ATPase_NBD.
DR PANTHER; PTHR11937; PTHR11937; 1.
DR PANTHER; PTHR11937:SF167; PTHR11937:SF167; 1.
DR Pfam; PF00022; Actin; 1.
DR Pfam; PF16840; ACTL7A_N; 1.
DR PRINTS; PR00190; ACTIN.
DR SMART; SM00268; ACTIN; 1.
DR SUPFAM; SSF53067; SSF53067; 2.
PE 1: Evidence at protein level;
KW 3D-structure; Cytoplasm; Cytoplasmic vesicle; Cytoskeleton;
KW Disease variant; Fertilization; Golgi apparatus; Nucleus;
KW Reference proteome.
FT CHAIN 1..435
FT /note="Actin-like protein 7A"
FT /id="PRO_0000089137"
FT REGION 1..64
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 31..51
FT /note="Required for interaction with TES"
FT COMPBIAS 18..32
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 45
FT /note="R -> C (in dbSNP:rs368653764)"
FT /evidence="ECO:0000269|PubMed:17644991"
FT /id="VAR_031425"
FT VARIANT 161
FT /note="A -> P (in dbSNP:rs35995497)"
FT /id="VAR_033460"
FT VARIANT 245
FT /note="A -> T (found in two infertile brothers from a
FT consanguineous family. The brothers present normal semen
FT analysis, but both couples have no embryos for transfer
FT after several IVF and intracytoplasmic sperm injection. The
FT sperm of the affected brothers dysplay acrosomal
FT ultrastructural defects; dbSNP:rs371671871)"
FT /evidence="ECO:0000269|PubMed:32923619"
FT /id="VAR_085430"
FT VARIANT 340
FT /note="V -> M (in dbSNP:rs7872077)"
FT /evidence="ECO:0000269|PubMed:17644991"
FT /id="VAR_024362"
FT VARIANT 343
FT /note="L -> V (in dbSNP:rs56031956)"
FT /id="VAR_060998"
FT MUTAGEN 31
FT /note="A->Y: Abolishes interaction with TES."
FT /evidence="ECO:0000269|PubMed:21278383"
FT MUTAGEN 41
FT /note="A->Y: Abolishes interaction with TES."
FT /evidence="ECO:0000269|PubMed:21278383"
FT STRAND 42..44
FT /evidence="ECO:0007829|PDB:2XQN"
SQ SEQUENCE 435 AA; 48644 MW; FE73995971B5600C CRC64;
MWAPPAAIMG DGPTKKVGNQ APLQTQALQT ASLRDGPAKR AVWVRHTSSE PQEPTESKAA
KERPKQEVTK AVVVDLGTGY CKCGFAGLPR PTHKISTTVG KPYMETAKTG DNRKETFVGQ
ELNNTNVHLK LVNPLRHGII VDWDTVQDIW EYLFRQEMKI APEEHAVLVS DPPLSPHTNR
EKYAEMLFEA FNTPAMHIAY QSRLSMYSYG RTSGLVVEVG HGVSYVVPIY EGYPLPSITG
RLDYAGSDLT AYLLGLLNSA GNEFTQDQMG IVEDIKKKCC FVALDPIEEK KVPLSEHTIR
YVLPDGKEIQ LCQERFLCSE MFFKPSLIKS MQLGLHTQTV SCLNKCDIAL KRDLMGNILL
CGGSTMLSGF PNRLQKELSS MCPNDTPQVN VLPERDSAVW TGGSILASLQ GFQPLWVHRF
EYEEHGPFFL YRRCF
