ACTL8_HUMAN
ID ACTL8_HUMAN Reviewed; 366 AA.
AC Q9H568; Q13104; Q96M75;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Actin-like protein 8;
DE AltName: Full=Cancer/testis antigen 57;
DE Short=CT57;
GN Name=ACTL8;
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 [MRNA].
RC TISSUE=B-cell lymphoma;
RA Sanders R.;
RT "Partial sequencing and chromosome mapping of cDNA clones from a Burkitt's
RT lymphoma.";
RL Submitted (FEB-1995) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-3.
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-3.
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).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=15905330; DOI=10.1073/pnas.0502583102;
RA Chen Y.-T., Scanlan M.J., Venditti C.A., Chua R., Theiler G.,
RA Stevenson B.J., Iseli C., Gure A.O., Vasicek T., Strausberg R.L.,
RA Jongeneel C.V., Old L.J., Simpson A.J.G.;
RT "Identification of cancer/testis-antigen genes by massively parallel
RT signature sequencing.";
RL Proc. Natl. Acad. Sci. U.S.A. 102:7940-7945(2005).
CC -!- INTERACTION:
CC Q9H568; Q9Y5P4: CERT1; NbExp=3; IntAct=EBI-10306917, EBI-739994;
CC Q9H568; Q9Y5P4-2: CERT1; NbExp=3; IntAct=EBI-10306917, EBI-11156432;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Strongly expressed in testis and pancreas. Weak
CC expression in placenta. {ECO:0000269|PubMed:15905330}.
CC -!- SIMILARITY: Belongs to the actin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA62476.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; U20582; AAA62476.1; ALT_FRAME; mRNA.
DR EMBL; AK057339; BAB71434.1; -; mRNA.
DR EMBL; AL136529; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028909; AAH28909.1; -; mRNA.
DR CCDS; CCDS183.1; -.
DR RefSeq; NP_110439.2; NM_030812.2.
DR RefSeq; XP_011540514.1; XM_011542212.2.
DR AlphaFoldDB; Q9H568; -.
DR SMR; Q9H568; -.
DR BioGRID; 123530; 28.
DR IntAct; Q9H568; 23.
DR STRING; 9606.ENSP00000364555; -.
DR iPTMnet; Q9H568; -.
DR PhosphoSitePlus; Q9H568; -.
DR BioMuta; ACTL8; -.
DR DMDM; 74752665; -.
DR EPD; Q9H568; -.
DR jPOST; Q9H568; -.
DR MassIVE; Q9H568; -.
DR MaxQB; Q9H568; -.
DR PaxDb; Q9H568; -.
DR PeptideAtlas; Q9H568; -.
DR PRIDE; Q9H568; -.
DR ProteomicsDB; 80894; -.
DR Antibodypedia; 14710; 156 antibodies from 24 providers.
DR DNASU; 81569; -.
DR Ensembl; ENST00000375406.2; ENSP00000364555.1; ENSG00000117148.8.
DR Ensembl; ENST00000617065.1; ENSP00000481590.1; ENSG00000117148.8.
DR GeneID; 81569; -.
DR KEGG; hsa:81569; -.
DR MANE-Select; ENST00000375406.2; ENSP00000364555.1; NM_030812.3; NP_110439.2.
DR UCSC; uc001bat.3; human.
DR CTD; 81569; -.
DR DisGeNET; 81569; -.
DR GeneCards; ACTL8; -.
DR HGNC; HGNC:24018; ACTL8.
DR HPA; ENSG00000117148; Tissue enriched (testis).
DR neXtProt; NX_Q9H568; -.
DR OpenTargets; ENSG00000117148; -.
DR PharmGKB; PA142672644; -.
DR VEuPathDB; HostDB:ENSG00000117148; -.
DR eggNOG; KOG0676; Eukaryota.
DR GeneTree; ENSGT00940000162905; -.
DR HOGENOM; CLU_027965_0_2_1; -.
DR InParanoid; Q9H568; -.
DR OMA; GRVLNWE; -.
DR OrthoDB; 649708at2759; -.
DR PhylomeDB; Q9H568; -.
DR TreeFam; TF340354; -.
DR PathwayCommons; Q9H568; -.
DR SignaLink; Q9H568; -.
DR BioGRID-ORCS; 81569; 12 hits in 1072 CRISPR screens.
DR ChiTaRS; ACTL8; human.
DR GeneWiki; ACTL8; -.
DR GenomeRNAi; 81569; -.
DR Pharos; Q9H568; Tbio.
DR PRO; PR:Q9H568; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9H568; protein.
DR Bgee; ENSG00000117148; Expressed in oocyte and 19 other tissues.
DR Genevisible; Q9H568; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005869; C:dynactin complex; IBA:GO_Central.
DR GO; GO:0030855; P:epithelial cell differentiation; IEP:UniProtKB.
DR InterPro; IPR004000; Actin.
DR InterPro; IPR043129; ATPase_NBD.
DR PANTHER; PTHR11937; PTHR11937; 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; Reference proteome.
FT CHAIN 1..366
FT /note="Actin-like protein 8"
FT /id="PRO_0000286171"
FT VARIANT 3
FT /note="A -> S (in dbSNP:rs694214)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_032079"
FT VARIANT 245
FT /note="R -> C (in dbSNP:rs3795322)"
FT /id="VAR_032080"
SQ SEQUENCE 366 AA; 41360 MW; BCCFC1E5CDC1C8FB CRC64;
MAARTVIIDH GSGFLKAGTA GWNEPQMVFP NIVNYLPCKE NPGPSYARRR VSLGIDICHP
DTFSYPIERG RILNWEGVQY LWSFVLENHR REQEVPPVII TETPLREPAD RKKMLEILFE
LLHVPSVLLA DQLQMSLYAS GLLTGVVVDS GYGLTRVQPF HQGRPLPASG KTLEFAGQDL
SAYLLKSLFK EDCDRRCLFQ LETVAVTQMN KCYVPQNLGE ALDFRERQQS ALDESNTYQL
PDGSRVELTP MQRVAPEMFF SPQVFEQPGP SIPRAIVESV ESCEISLRPL LVSHVMACGG
NTLYPGFTKR LFRELMGDHV SSTKATVWEG SNRNFSVWLG ASVVAHLSTY QSEWMSREEY
GEHMRM
