ACL6B_HUMAN
ID ACL6B_HUMAN Reviewed; 426 AA.
AC O94805; A4D2D0; O75421;
DT 19-SEP-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Actin-like protein 6B {ECO:0000305};
DE AltName: Full=53 kDa BRG1-associated factor B;
DE AltName: Full=Actin-related protein Baf53b;
DE AltName: Full=ArpNalpha;
DE AltName: Full=BRG1-associated factor 53B;
DE Short=BAF53B;
GN Name=ACTL6B {ECO:0000312|HGNC:HGNC:160}; Synonyms=ACTL6, BAF53B;
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].
RX PubMed=9799793; DOI=10.1101/gr.8.10.1060;
RA Gloeckner G., Scherer S., Schattevoy R., Boright A.P., Weber J.,
RA Tsui L.-C., Rosenthal A.;
RT "Large-scale sequencing of two regions in human chromosome 7q22: analysis
RT of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17
RT genes.";
RL Genome Res. 8:1060-1073(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=10380635; DOI=10.1271/bbb.63.917;
RA Harata M., Mochizuki R., Mizuno S.;
RT "Two isoforms of a human actin-related protein show nuclear localization
RT and mutually selective expression between brain and other tissues.";
RL Biosci. Biotechnol. Biochem. 63:917-923(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RX PubMed=12368262; DOI=10.1101/gad.992102;
RA Olave I., Wang W., Xue Y., Kuo A., Crabtree G.R.;
RT "Identification of a polymorphic, neuron-specific chromatin remodeling
RT complex.";
RL Genes Dev. 16:2509-2517(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Fetal brain;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [7]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
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).
RN [9]
RP PROTEIN SEQUENCE OF 64-76, AND IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Brain, and Cajal-Retzius cell;
RA Lubec G., Vishwanath V.;
RL Submitted (MAR-2007) to UniProtKB.
RN [10]
RP REVIEW ON SWI/SNF CHROMATIN REMODELING COMPLEXES.
RX PubMed=22952240; DOI=10.1074/jbc.r111.309302;
RA Euskirchen G., Auerbach R.K., Snyder M.;
RT "SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse
RT functions.";
RL J. Biol. Chem. 287:30897-30905(2012).
RN [11]
RP REVIEW ON SWI/SNF CHROMATIN REMODELING COMPLEXES.
RX PubMed=26601204; DOI=10.1126/sciadv.1500447;
RA Kadoch C., Crabtree G.R.;
RT "Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic
RT insights gained from human genomics.";
RL Sci. Adv. 1:E1500447-E1500447(2015).
RN [12]
RP FUNCTION, VARIANTS DEE76 97-ARG--PRO-426 DEL; GLN-130; PHE-147 DEL;
RP 186-GLN--PRO-426 DEL; PRO-206; 242-GLN--PRO-426 DEL; 247-TRP--PRO-426 DEL;
RP 284-TYR--PRO-426 DEL; SER-349; 411-GLN--PRO-426 DEL AND 425-CYS-PRO-426
RP DEL, VARIANTS IDDSSAD GLY-77 AND ARG-343, AND CHARACTERIZATION OF VARIANT
RP IDDSSAD ARG-343.
RX PubMed=31031012; DOI=10.1016/j.ajhg.2019.03.022;
RA Bell S., Rousseau J., Peng H., Aouabed Z., Priam P., Theroux J.F.,
RA Jefri M., Tanti A., Wu H., Kolobova I., Silviera H., Manzano-Vargas K.,
RA Ehresmann S., Hamdan F.F., Hettige N., Zhang X., Antonyan L., Nassif C.,
RA Ghaloul-Gonzalez L., Sebastian J., Vockley J., Begtrup A.G.,
RA Wentzensen I.M., Crunk A., Nicholls R.D., Herman K.C., Deignan J.L.,
RA Al-Hertani W., Efthymiou S., Salpietro V., Miyake N., Makita Y.,
RA Matsumoto N., Oestern R., Houge G., Hafstroem M., Fassi E., Houlden H.,
RA Klein Wassink-Ruiter J.S., Nelson D., Goldstein A., Dabir T., van Gils J.,
RA Bourgeron T., Delorme R., Cooper G.M., Martinez J.E., Finnila C.R.,
RA Carmant L., Lortie A., Oegema R., van Gassen K., Mehta S.G., Huhle D.,
RA Abou Jamra R., Martin S., Brunner H.G., Lindhout D., Au M.,
RA Graham J.M. Jr., Coubes C., Turecki G., Gravel S., Mechawar N.,
RA Rossignol E., Michaud J.L., Lessard J., Ernst C., Campeau P.M.;
RT "Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and
RT Lead to Loss of Dendrites in Human Neurons.";
RL Am. J. Hum. Genet. 104:815-834(2019).
RN [13]
RP VARIANT DEE76 333-CYS--PRO-426 DEL.
RX PubMed=30237576; DOI=10.1038/s41436-018-0138-x;
RA Maddirevula S., Alzahrani F., Al-Owain M., Al Muhaizea M.A., Kayyali H.R.,
RA AlHashem A., Rahbeeni Z., Al-Otaibi M., Alzaidan H.I., Balobaid A.,
RA El Khashab H.Y., Bubshait D.K., Faden M., Yamani S.A., Dabbagh O.,
RA Al-Mureikhi M., Jasser A.A., Alsaif H.S., Alluhaydan I., Seidahmed M.Z.,
RA Alabbasi B.H., Almogarri I., Kurdi W., Akleh H., Qari A., Al Tala S.M.,
RA Alhomaidi S., Kentab A.Y., Salih M.A., Chedrawi A., Alameer S., Tabarki B.,
RA Shamseldin H.E., Patel N., Ibrahim N., Abdulwahab F., Samira M., Goljan E.,
RA Abouelhoda M., Meyer B.F., Hashem M., Shaheen R., AlShahwan S.,
RA Alfadhel M., Ben-Omran T., Al-Qattan M.M., Monies D., Alkuraya F.S.;
RT "Autozygome and high throughput confirmation of disease genes candidacy.";
RL Genet. Med. 21:736-742(2019).
RN [14]
RP VARIANTS DEE76 274-GLN--PRO-426 DEL AND SER-349.
RX PubMed=30656450; DOI=10.1007/s00439-019-01972-3;
RA Fichera M., Failla P., Saccuzzo L., Miceli M., Salvo E., Castiglia L.,
RA Galesi O., Grillo L., Cali F., Greco D., Amato C., Romano C., Elia M.;
RT "Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin
RT remodeling complex nBAF, cause early onset severe developmental and
RT epileptic encephalopathy with brain hypomyelination and cerebellar
RT atrophy.";
RL Hum. Genet. 138:187-198(2019).
CC -!- FUNCTION: Involved in transcriptional activation and repression of
CC select genes by chromatin remodeling (alteration of DNA-nucleosome
CC topology). Component of SWI/SNF chromatin remodeling complexes that
CC carry out key enzymatic activities, changing chromatin structure by
CC altering DNA-histone contacts within a nucleosome in an ATP-dependent
CC manner. Belongs to the neuron-specific chromatin remodeling complex
CC (nBAF complex), as such plays a role in remodeling mononucleosomes in
CC an ATP-dependent fashion, and is required for postmitotic neural
CC development and dendritic outgrowth. During neural development a switch
CC from a stem/progenitor to a postmitotic chromatin remodeling mechanism
CC occurs as neurons exit the cell cycle and become committed to their
CC adult state. The transition from proliferating neural stem/progenitor
CC cells to postmitotic neurons requires a switch in subunit composition
CC of the npBAF and nBAF complexes. As neural progenitors exit mitosis and
CC differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A
CC and PHF10/BAF45A, are exchanged for homologous alternative
CC ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-
CC specific complexes (nBAF). The npBAF complex is essential for the self-
CC renewal/proliferative capacity of the multipotent neural stem cells.
CC The nBAF complex along with CREST plays a role regulating the activity
CC of genes essential for dendrite growth. ACTL6B/BAF53B is not essential
CC for assembly of the nBAF complex but is required for targeting the
CC complex and CREST to the promoter of genes essential for dendritic
CC growth (By similarity). Essential for neuronal maturation and dendrite
CC development (PubMed:31031012). {ECO:0000250|UniProtKB:Q99MR0,
CC ECO:0000269|PubMed:31031012, ECO:0000303|PubMed:22952240,
CC ECO:0000303|PubMed:26601204}.
CC -!- SUBUNIT: Component of the multiprotein chromatin-remodeling complexes
CC SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The
CC canonical complex contains a catalytic subunit (either
CC SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1,
CC ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170 and SMARCB1/SNF5/BAF47.
CC Other subunits specific to each of the complexes may also be present
CC permitting several possible combinations developmentally and tissue
CC specific (PubMed:22952240, PubMed:26601204). Component of the BAF
CC complex, which includes at least actin (ACTB), ARID1A/BAF250A,
CC ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53,
CC ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170,
CC SMARCB1/SNF5/INI1 and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or
CC SMARCD3/BAF60C (PubMed:22952240, PubMed:26601204). Component of neuron-
CC specific chromatin remodeling complex (nBAF complex) composed of at
CC least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A or
CC SMARCD2/BAF60B or SMARCD3/BAF60C, SMARCA2/BRM/BAF190B,
CC SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57,
CC SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin
CC (ACTB). Note that the nBAF complex is polymorphic in regard to the
CC ATPase, SMARCA2 and SMARCA4 occupying mutually exclusive positions. May
CC be a component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at
CC least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or
CC ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps
CC SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180,
CC ARID2/BAF200 and actin (PubMed:22952240, PubMed:26601204).
CC {ECO:0000250|UniProtKB:Q99MR0, ECO:0000303|PubMed:22952240,
CC ECO:0000303|PubMed:26601204}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000303|PubMed:26601204}.
CC -!- DISEASE: Developmental and epileptic encephalopathy 76 (DEE76)
CC [MIM:618468]: A form of epileptic encephalopathy, a heterogeneous group
CC of severe early-onset epilepsies characterized by refractory seizures,
CC neurodevelopmental impairment, and poor prognosis. Development is
CC normal prior to seizure onset, after which cognitive and motor delays
CC become apparent. DEE76 is an autosomal recessive form that may result
CC in death in childhood. {ECO:0000269|PubMed:30237576,
CC ECO:0000269|PubMed:30656450, ECO:0000269|PubMed:31031012}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Intellectual developmental disorder with severe speech and
CC ambulation defects (IDDSSAD) [MIM:618470]: An autosomal dominant
CC neurodevelopmental disorder with onset in infancy, and characterized by
CC global developmental delay, intellectual disability, ambulation
CC deficits, severe language impairment, and minor dysmorphic features
CC including a wide mouth, diastema, and bulbous nose. Additional
CC manifestations are spasticity, hypotonia and autistic features
CC including stereotypies. Brain imaging show thin corpus callosum,
CC generalized atrophy, and mild periventricular gliosis.
CC {ECO:0000269|PubMed:31031012}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the actin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC78795.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AF053356; AAC78795.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AB015906; BAA74576.1; -; mRNA.
DR EMBL; AF041475; AAD54678.1; -; mRNA.
DR EMBL; AK314940; BAG37446.1; -; mRNA.
DR EMBL; AC099394; AAP21874.1; -; Genomic_DNA.
DR EMBL; CH236956; EAL23823.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW76502.1; -; Genomic_DNA.
DR EMBL; BC020944; AAH20944.1; -; mRNA.
DR CCDS; CCDS5702.1; -.
DR RefSeq; NP_057272.1; NM_016188.4.
DR AlphaFoldDB; O94805; -.
DR SMR; O94805; -.
DR BioGRID; 119529; 108.
DR ComplexPortal; CPX-1196; Polybromo-associated SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B variant.
DR ComplexPortal; CPX-1202; Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant.
DR ComplexPortal; CPX-1203; Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA2 variant.
DR ComplexPortal; CPX-1207; SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant.
DR ComplexPortal; CPX-1209; SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant.
DR ComplexPortal; CPX-1210; SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant.
DR ComplexPortal; CPX-1211; SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant.
DR ComplexPortal; CPX-1216; Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant.
DR ComplexPortal; CPX-1217; Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant.
DR ComplexPortal; CPX-1218; Neuron-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant.
DR ComplexPortal; CPX-1219; Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1A-SMARCA4 variant.
DR ComplexPortal; CPX-1220; Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA2 variant.
DR ComplexPortal; CPX-1221; Brain-specific SWI/SNF ATP-dependent chromatin remodeling complex, ARID1B-SMARCA4 variant.
DR ComplexPortal; CPX-1225; Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA2 variant.
DR ComplexPortal; CPX-1226; Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1A-SMARCA4 variant.
DR ComplexPortal; CPX-1227; Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA2 variant.
DR ComplexPortal; CPX-1228; Muscle cell-specific SWI/SNF ATP-dependent chromatin remodeling complex, ACTL6B-ARID1B-SMARCA4 variant.
DR ComplexPortal; CPX-4223; GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA2 variant.
DR ComplexPortal; CPX-4224; GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA2 variant.
DR ComplexPortal; CPX-4225; GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRA-SMARCA4 variant.
DR ComplexPortal; CPX-4226; GBAF (SWI/SNF) ATP-dependent chromatin remodeling complex, ACTL6B-BICRAL-SMARCA4 variant.
DR CORUM; O94805; -.
DR ELM; O94805; -.
DR IntAct; O94805; 24.
DR MINT; O94805; -.
DR STRING; 9606.ENSP00000160382; -.
DR iPTMnet; O94805; -.
DR PhosphoSitePlus; O94805; -.
DR BioMuta; ACTL6B; -.
DR EPD; O94805; -.
DR jPOST; O94805; -.
DR MassIVE; O94805; -.
DR MaxQB; O94805; -.
DR PaxDb; O94805; -.
DR PeptideAtlas; O94805; -.
DR PRIDE; O94805; -.
DR ProteomicsDB; 50445; -.
DR ABCD; O94805; 1 sequenced antibody.
DR Antibodypedia; 30798; 204 antibodies from 32 providers.
DR DNASU; 51412; -.
DR Ensembl; ENST00000160382.10; ENSP00000160382.5; ENSG00000077080.10.
DR GeneID; 51412; -.
DR KEGG; hsa:51412; -.
DR MANE-Select; ENST00000160382.10; ENSP00000160382.5; NM_016188.5; NP_057272.1.
DR UCSC; uc003uvy.4; human.
DR CTD; 51412; -.
DR DisGeNET; 51412; -.
DR GeneCards; ACTL6B; -.
DR HGNC; HGNC:160; ACTL6B.
DR HPA; ENSG00000077080; Group enriched (brain, pituitary gland).
DR MalaCards; ACTL6B; -.
DR MIM; 612458; gene.
DR MIM; 618468; phenotype.
DR MIM; 618470; phenotype.
DR neXtProt; NX_O94805; -.
DR OpenTargets; ENSG00000077080; -.
DR Orphanet; 442835; Non-specific early-onset epileptic encephalopathy.
DR Orphanet; 528084; Non-specific syndromic intellectual disability.
DR PharmGKB; PA24482; -.
DR VEuPathDB; HostDB:ENSG00000077080; -.
DR eggNOG; KOG0679; Eukaryota.
DR GeneTree; ENSGT00940000160860; -.
DR HOGENOM; CLU_027965_6_0_1; -.
DR InParanoid; O94805; -.
DR OMA; MWMSKSE; -.
DR OrthoDB; 649708at2759; -.
DR PhylomeDB; O94805; -.
DR TreeFam; TF312863; -.
DR PathwayCommons; O94805; -.
DR Reactome; R-HSA-3214858; RMTs methylate histone arginines.
DR Reactome; R-HSA-8939243; RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known.
DR SignaLink; O94805; -.
DR SIGNOR; O94805; -.
DR BioGRID-ORCS; 51412; 15 hits in 1083 CRISPR screens.
DR ChiTaRS; ACTL6B; human.
DR GeneWiki; ACTL6B; -.
DR GenomeRNAi; 51412; -.
DR Pharos; O94805; Tbio.
DR PRO; PR:O94805; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; O94805; protein.
DR Bgee; ENSG00000077080; Expressed in cortical plate and 134 other tissues.
DR ExpressionAtlas; O94805; baseline and differential.
DR Genevisible; O94805; HS.
DR GO; GO:0140092; C:bBAF complex; IC:ComplexPortal.
DR GO; GO:0035060; C:brahma complex; IC:ComplexPortal.
DR GO; GO:0000785; C:chromatin; IC:ComplexPortal.
DR GO; GO:0140288; C:GBAF complex; IC:ComplexPortal.
DR GO; GO:0000776; C:kinetochore; IC:ComplexPortal.
DR GO; GO:0071565; C:nBAF complex; ISS:UniProtKB.
DR GO; GO:0035267; C:NuA4 histone acetyltransferase complex; IBA:GO_Central.
DR GO; GO:0016363; C:nuclear matrix; IC:ComplexPortal.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0016586; C:RSC-type complex; IC:ComplexPortal.
DR GO; GO:0016514; C:SWI/SNF complex; IDA:BHF-UCL.
DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR GO; GO:0005200; F:structural constituent of cytoskeleton; TAS:ProtInc.
DR GO; GO:0003713; F:transcription coactivator activity; NAS:BHF-UCL.
DR GO; GO:0006325; P:chromatin organization; NAS:UniProtKB.
DR GO; GO:0006338; P:chromatin remodeling; IDA:BHF-UCL.
DR GO; GO:0016358; P:dendrite development; IMP:UniProtKB.
DR GO; GO:0043967; P:histone H4 acetylation; IBA:GO_Central.
DR GO; GO:0045596; P:negative regulation of cell differentiation; IC:ComplexPortal.
DR GO; GO:0007399; P:nervous system development; IBA:GO_Central.
DR GO; GO:0042551; P:neuron maturation; IMP:UniProtKB.
DR GO; GO:0045597; P:positive regulation of cell differentiation; IC:ComplexPortal.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IC:ComplexPortal.
DR GO; GO:2000781; P:positive regulation of double-strand break repair; IC:ComplexPortal.
DR GO; GO:0045663; P:positive regulation of myoblast differentiation; IC:ComplexPortal.
DR GO; GO:1902459; P:positive regulation of stem cell population maintenance; IC:ComplexPortal.
DR GO; GO:0045582; P:positive regulation of T cell differentiation; IC:ComplexPortal.
DR GO; GO:0070316; P:regulation of G0 to G1 transition; IC:ComplexPortal.
DR GO; GO:2000045; P:regulation of G1/S transition of mitotic cell cycle; IC:ComplexPortal.
DR GO; GO:0030071; P:regulation of mitotic metaphase/anaphase transition; IC:ComplexPortal.
DR GO; GO:2000819; P:regulation of nucleotide-excision repair; IC:ComplexPortal.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0021510; P:spinal cord development; IEA:Ensembl.
DR InterPro; IPR004000; Actin.
DR InterPro; IPR004001; Actin_CS.
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.
DR PROSITE; PS00432; ACTINS_2; 1.
PE 1: Evidence at protein level;
KW Chromatin regulator; Direct protein sequencing; Disease variant; Epilepsy;
KW Intellectual disability; Neurogenesis; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..426
FT /note="Actin-like protein 6B"
FT /id="PRO_0000089135"
FT REGION 39..82
FT /note="Essential for mediating its function in dendritic
FT development; may contribute to neuronal-specific targeting"
FT /evidence="ECO:0000250|UniProtKB:Q99MR0"
FT VARIANT 77
FT /note="D -> G (in IDDSSAD; unknown pathological
FT significance; dbSNP:rs1562851259)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082123"
FT VARIANT 97..426
FT /note="Missing (in DEE76)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082124"
FT VARIANT 130
FT /note="R -> Q (in DEE76; unknown pathological significance;
FT dbSNP:rs757603505)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082125"
FT VARIANT 147
FT /note="Missing (in DEE76; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082126"
FT VARIANT 186..426
FT /note="Missing (in DEE76)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082127"
FT VARIANT 206
FT /note="L -> P (in DEE76; dbSNP:rs1562848909)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082128"
FT VARIANT 242..426
FT /note="Missing (in DEE76)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082129"
FT VARIANT 247..426
FT /note="Missing (in DEE76)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082130"
FT VARIANT 274..426
FT /note="Missing (in DEE76)"
FT /evidence="ECO:0000269|PubMed:30656450"
FT /id="VAR_082131"
FT VARIANT 284..426
FT /note="Missing (in DEE76)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082132"
FT VARIANT 333..426
FT /note="Missing (in DEE76)"
FT /evidence="ECO:0000269|PubMed:30237576"
FT /id="VAR_082133"
FT VARIANT 343
FT /note="G -> R (in IDDSSAD; probable gain-of-function
FT mutation; dbSNP:rs1131692228)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082134"
FT VARIANT 349
FT /note="G -> S (in DEE76; dbSNP:rs955171017)"
FT /evidence="ECO:0000269|PubMed:30656450,
FT ECO:0000269|PubMed:31031012"
FT /id="VAR_082135"
FT VARIANT 411..426
FT /note="Missing (in DEE76)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082136"
FT VARIANT 425..426
FT /note="Missing (in DEE76; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31031012"
FT /id="VAR_082137"
SQ SEQUENCE 426 AA; 46877 MW; 6E9CEBABB8C81E64 CRC64;
MSGGVYGGDE VGALVFDIGS FSVRAGYAGE DCPKADFPTT VGLLAAEEGG GLELEGDKEK
KGKIFHIDTN ALHVPRDGAE VMSPLKNGMI EDWECFRAIL DHTYSKHVKS EPNLHPVLMS
EAPWNTRAKR EKLTELMFEQ YNIPAFFLCK TAVLTAFANG RSTGLVLDSG ATHTTAIPVH
DGYVLQQGIV KSPLAGDFIS MQCRELFQEM AIDIIPPYMI AAKEPVREGA PPNWKKKEKL
PQVSKSWHNY MCNEVIQDFQ ASVLQVSDSP YDEQVAAQMP TVHYEMPNGY NTDYGAERLR
IPEGLFDPSN VKGLSGNTML GVGHVVTTSI GMCDIDIRPG LYGSVIVTGG NTLLQGFTDR
LNRELSQKTP PSMRLKLIAS NSTMERKFSP WIGGSILASL GTFQQMWISK QEYEEGGKQC
VERKCP
