ACL7B_HUMAN
ID ACL7B_HUMAN Reviewed; 415 AA.
AC Q9Y614; B2R9Q2; Q5JSV1;
DT 27-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Actin-like protein 7B;
DE AltName: Full=Actin-like-7-beta;
GN Name=ACTL7B;
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].
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=Brain;
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).
CC -!- INTERACTION:
CC Q9Y614; P55212: CASP6; NbExp=3; IntAct=EBI-25835070, EBI-718729;
CC Q9Y614; O00291: HIP1; NbExp=3; IntAct=EBI-25835070, EBI-473886;
CC Q9Y614; P13473-2: LAMP2; NbExp=3; IntAct=EBI-25835070, EBI-21591415;
CC Q9Y614; P62826: RAN; NbExp=3; IntAct=EBI-25835070, EBI-286642;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Detected only in the testis and, to a lesser
CC extent, in the prostate. {ECO:0000269|PubMed:10373328}.
CC -!- SIMILARITY: Belongs to the actin family. {ECO:0000305}.
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DR EMBL; AF113527; AAD44110.1; -; Genomic_DNA.
DR EMBL; AB284521; BAF41972.1; -; Genomic_DNA.
DR EMBL; AK313871; BAG36599.1; -; mRNA.
DR EMBL; AL359692; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471105; EAW59025.1; -; Genomic_DNA.
DR EMBL; BC033789; AAH33789.1; -; mRNA.
DR CCDS; CCDS6771.1; -.
DR RefSeq; NP_006677.1; NM_006686.3.
DR AlphaFoldDB; Q9Y614; -.
DR SMR; Q9Y614; -.
DR BioGRID; 116088; 2.
DR IntAct; Q9Y614; 4.
DR STRING; 9606.ENSP00000363799; -.
DR iPTMnet; Q9Y614; -.
DR PhosphoSitePlus; Q9Y614; -.
DR BioMuta; ACTL7B; -.
DR DMDM; 27923724; -.
DR MassIVE; Q9Y614; -.
DR PaxDb; Q9Y614; -.
DR PeptideAtlas; Q9Y614; -.
DR PRIDE; Q9Y614; -.
DR ProteomicsDB; 86576; -.
DR Antibodypedia; 14908; 278 antibodies from 29 providers.
DR DNASU; 10880; -.
DR Ensembl; ENST00000374667.5; ENSP00000363799.3; ENSG00000148156.8.
DR GeneID; 10880; -.
DR KEGG; hsa:10880; -.
DR MANE-Select; ENST00000374667.5; ENSP00000363799.3; NM_006686.4; NP_006677.1.
DR UCSC; uc004bdi.4; human.
DR CTD; 10880; -.
DR DisGeNET; 10880; -.
DR GeneCards; ACTL7B; -.
DR HGNC; HGNC:162; ACTL7B.
DR HPA; ENSG00000148156; Tissue enriched (testis).
DR MIM; 604304; gene.
DR neXtProt; NX_Q9Y614; -.
DR OpenTargets; ENSG00000148156; -.
DR PharmGKB; PA24484; -.
DR VEuPathDB; HostDB:ENSG00000148156; -.
DR eggNOG; KOG0676; Eukaryota.
DR GeneTree; ENSGT00940000162582; -.
DR HOGENOM; CLU_027965_0_2_1; -.
DR InParanoid; Q9Y614; -.
DR OMA; WDCVQNI; -.
DR OrthoDB; 964605at2759; -.
DR PhylomeDB; Q9Y614; -.
DR TreeFam; TF354237; -.
DR PathwayCommons; Q9Y614; -.
DR SignaLink; Q9Y614; -.
DR BioGRID-ORCS; 10880; 15 hits in 1065 CRISPR screens.
DR ChiTaRS; ACTL7B; human.
DR GenomeRNAi; 10880; -.
DR Pharos; Q9Y614; Tbio.
DR PRO; PR:Q9Y614; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9Y614; protein.
DR Bgee; ENSG00000148156; Expressed in left testis and 49 other tissues.
DR ExpressionAtlas; Q9Y614; baseline and differential.
DR Genevisible; Q9Y614; HS.
DR GO; GO:0015629; C:actin cytoskeleton; TAS:ProtInc.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005869; C:dynactin complex; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005200; F:structural constituent of cytoskeleton; TAS:ProtInc.
DR InterPro; IPR004000; Actin.
DR InterPro; IPR027680; ACTL7B.
DR InterPro; IPR043129; ATPase_NBD.
DR PANTHER; PTHR11937; PTHR11937; 1.
DR PANTHER; PTHR11937:SF59; PTHR11937:SF59; 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; Cytoskeleton; Phosphoprotein; Reference proteome.
FT CHAIN 1..415
FT /note="Actin-like protein 7B"
FT /id="PRO_0000089139"
FT REGION 1..31
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 6
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q4QR76"
SQ SEQUENCE 415 AA; 45234 MW; F29F29C2101F0D8E CRC64;
MATRNSPMPL GTAQGDPGEA GTRPGPDASL RDTGAATQLK MKPRKVHKIK AVIIDLGSQY
CKCGYAGEPR PTYFISSTVG KRCPEAADAG DTRKWTLVGH ELLNTEAPLK LVNPLKHGIV
VDWDCVQDIW EYIFRTAMKI LPEEHAVLVS DPPLSPSSNR EKYAELMFET FGIPAMHVTS
QSLLSIYSYG KTSGLVVESG HGVSHVVPIS EGDVLPGLTS RADYAGGDLT NYLMQLLNEA
GHAFTDDHLH IIEHIKKKCC YAAFLPEEEL GLVPEELRVD YELPDGKLIT IGQERFRCSE
MLFQPSLAGS TQPGLPELTA ACLGRCQDTG FKEEMAANVL LCGGCTMLDG FPERFQRELS
LLCPGDSPAV AAAPERKTSV WTGGSILASL QAFQQLWVSK EEFEERGSVA IYSKC