LOCUS       NM_016188               1524 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens actin like 6B (ACTL6B), transcript variant 1, mRNA.
ACCESSION   NM_016188
VERSION     NM_016188.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1524)
  AUTHORS   Ahn,L.Y., Coatti,G.C., Liu,J., Gumus,E., Schaffer,A.E. and
            Miranda,H.C.
  TITLE     An epilepsy-associated ACTL6B variant captures neuronal
            hyperexcitability in a human induced pluripotent stem cell model
  JOURNAL   J Neurosci Res 99 (1), 110-123 (2021)
   PUBMED   33141462
  REMARK    GeneRIF: An epilepsy-associated ACTL6B variant captures neuronal
            hyperexcitability in a human induced pluripotent stem cell model.
REFERENCE   2  (bases 1 to 1524)
  AUTHORS   Wenderski,W., Wang,L., Krokhotin,A., Walsh,J.J., Li,H., Shoji,H.,
            Ghosh,S., George,R.D., Miller,E.L., Elias,L., Gillespie,M.A.,
            Son,E.Y., Staahl,B.T., Baek,S.T., Stanley,V., Moncada,C.,
            Shipony,Z., Linker,S.B., Marchetto,M.C.N., Gage,F.H., Chen,D.,
            Sultan,T., Zaki,M.S., Ranish,J.A., Miyakawa,T., Luo,L.,
            Malenka,R.C., Crabtree,G.R. and Gleeson,J.G.
  TITLE     Loss of the neural-specific BAF subunit ACTL6B relieves repression
            of early response genes and causes recessive autism
  JOURNAL   Proc Natl Acad Sci U S A 117 (18), 10055-10066 (2020)
   PUBMED   32312822
  REMARK    GeneRIF: ACTL6B loss is thus an important cause of recessive ASD,
            with impaired neuron-specific chromatin repression indicated as a
            potential mechanism.
REFERENCE   3  (bases 1 to 1524)
  AUTHORS   Bell,S., Rousseau,J., Peng,H., Aouabed,Z., Priam,P., Theroux,J.F.,
            Jefri,M., Tanti,A., Wu,H., Kolobova,I., Silviera,H.,
            Manzano-Vargas,K., Ehresmann,S., Hamdan,F.F., Hettige,N., Zhang,X.,
            Antonyan,L., Nassif,C., Ghaloul-Gonzalez,L., Sebastian,J.,
            Vockley,J., Begtrup,A.G., Wentzensen,I.M., Crunk,A., Nicholls,R.D.,
            Herman,K.C., Deignan,J.L., Al-Hertani,W., Efthymiou,S.,
            Salpietro,V., Miyake,N., Makita,Y., Matsumoto,N., Ostern,R.,
            Houge,G., Hafstrom,M., Fassi,E., Houlden,H., Klein
            Wassink-Ruiter,J.S., Nelson,D., Goldstein,A., Dabir,T., van
            Gils,J., Bourgeron,T., Delorme,R., Cooper,G.M., Martinez,J.E.,
            Finnila,C.R., Carmant,L., Lortie,A., Oegema,R., van Gassen,K.,
            Mehta,S.G., Huhle,D., Abou Jamra,R., Martin,S., Brunner,H.G.,
            Lindhout,D., Au,M., Graham,J.M. Jr., Coubes,C., Turecki,G.,
            Gravel,S., Mechawar,N., Rossignol,E., Michaud,J.L., Lessard,J.,
            Ernst,C. and Campeau,P.M.
  TITLE     Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy
            and Lead to Loss of Dendrites in Human Neurons
  JOURNAL   Am J Hum Genet 104 (5), 815-834 (2019)
   PUBMED   31031012
  REMARK    GeneRIF: Mutations in ACTL6B Cause Neurodevelopmental Deficits and
            Epilepsy and Lead to Loss of Dendrites in Neurons.
REFERENCE   4  (bases 1 to 1524)
  AUTHORS   Fichera,M., Failla,P., Saccuzzo,L., Miceli,M., Salvo,E.,
            Castiglia,L., Galesi,O., Grillo,L., Cali,F., Greco,D., Amato,C.,
            Romano,C. and Elia,M.
  TITLE     Mutations in ACTL6B, coding for a subunit of the neuron-specific
            chromatin remodeling complex nBAF, cause early onset severe
            developmental and epileptic encephalopathy with brain
            hypomyelination and cerebellar atrophy
  JOURNAL   Hum Genet 138 (2), 187-198 (2019)
   PUBMED   30656450
  REMARK    GeneRIF: provide additional genetic and clinical data on three new
            cases that support the pathogenic role of ACTL6B gene mutation in a
            syndromic form of Developmental and epileptic encephalopathies.
REFERENCE   5  (bases 1 to 1524)
  AUTHORS   Gatchalian,J., Malik,S., Ho,J., Lee,D.S., Kelso,T.W.R.,
            Shokhirev,M.N., Dixon,J.R. and Hargreaves,D.C.
  TITLE     A non-canonical BRD9-containing BAF chromatin remodeling complex
            regulates naive pluripotency in mouse embryonic stem cells
  JOURNAL   Nat Commun 9 (1), 5139 (2018)
   PUBMED   30510198
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1524)
  AUTHORS   Harata,M., Mochizuki,R. and Mizuno,S.
  TITLE     Two isoforms of a human actin-related protein show nuclear
            localization and mutually selective expression between brain and
            other tissues
  JOURNAL   Biosci Biotechnol Biochem 63 (5), 917-923 (1999)
   PUBMED   10380635
REFERENCE   7  (bases 1 to 1524)
  AUTHORS   Phelan,M.L., Sif,S., Narlikar,G.J. and Kingston,R.E.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   8  (bases 1 to 1524)
  AUTHORS   Glockner,G., Scherer,S., Schattevoy,R., Boright,A., Weber,J.,
            Tsui,L.C. and Rosenthal,A.
  TITLE     Large-scale sequencing of two regions in human chromosome 7q22:
            analysis of 650 kb of genomic sequence around the EPO and CUTL1
            loci reveals 17 genes
  JOURNAL   Genome Res 8 (10), 1060-1073 (1998)
   PUBMED   9799793
REFERENCE   9  (bases 1 to 1524)
  AUTHORS   Reyes,J.C., Muchardt,C. and Yaniv,M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   10 (bases 1 to 1524)
  AUTHORS   Wang,W., Xue,Y., Zhou,S., Kuo,A., Cairns,B.R. and Crabtree,G.R.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK314940.1 and BM696009.1.
            
            On May 17, 2019 this sequence version replaced NM_016188.4.
            
            Summary: The protein encoded by this gene is a member of a family
            of actin-related proteins (ARPs) which share significant amino acid
            sequence identity to conventional actins. Both actins and ARPs have
            an actin fold, which is an ATP-binding cleft, as a common feature.
            The ARPs are involved in diverse cellular processes, including
            vesicular transport, spindle orientation, nuclear migration and
            chromatin remodeling. This gene encodes a subunit of the BAF
            (BRG1/brm-associated factor) complex in mammals, which is
            functionally related to SWI/SNF complex in S. cerevisiae and
            Drosophila; the latter is thought to facilitate transcriptional
            activation of specific genes by antagonizing chromatin-mediated
            transcriptional repression. This subunit may be involved in the
            regulation of genes by structural modulation of their chromatin,
            specifically in the brain. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC020944.1, SRR3476690.487749.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000160382.10/ ENSP00000160382.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1375              AK314940.1         14-1388
            1376-1524           BM696009.1         307-455
FEATURES             Location/Qualifiers
     source          1..1524
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..1524
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /note="actin like 6B"
                     /db_xref="GeneID:51412"
                     /db_xref="HGNC:HGNC:160"
                     /db_xref="MIM:612458"
     exon            1..119
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..1375
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /note="hArpN alpha; 53 kDa BRG1-associated factor B;
                     BRG1-associated factor 53B; actin-related protein Baf53b"
                     /codon_start=1
                     /product="actin-like protein 6B"
                     /protein_id="NP_057272.1"
                     /db_xref="CCDS:CCDS5702.1"
                     /db_xref="GeneID:51412"
                     /db_xref="HGNC:HGNC:160"
                     /db_xref="MIM:612458"
                     /translation="MSGGVYGGDEVGALVFDIGSFSVRAGYAGEDCPKADFPTTVGLL
                     AAEEGGGLELEGDKEKKGKIFHIDTNALHVPRDGAEVMSPLKNGMIEDWECFRAILDH
                     TYSKHVKSEPNLHPVLMSEAPWNTRAKREKLTELMFEQYNIPAFFLCKTAVLTAFANG
                     RSTGLVLDSGATHTTAIPVHDGYVLQQGIVKSPLAGDFISMQCRELFQEMAIDIIPPY
                     MIAAKEPVREGAPPNWKKKEKLPQVSKSWHNYMCNEVIQDFQASVLQVSDSPYDEQVA
                     AQMPTVHYEMPNGYNTDYGAERLRIPEGLFDPSNVKGLSGNTMLGVGHVVTTSIGMCD
                     IDIRPGLYGSVIVTGGNTLLQGFTDRLNRELSQKTPPSMRLKLIASNSTMERKFSPWI
                     GGSILASLGTFQQMWISKQEYEEGGKQCVERKCP"
     exon            120..196
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            197..362
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            363..463
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            464..561
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            562..656
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            657..763
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            764..853
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            854..915
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1030
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1111
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1207
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..1294
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1524
                     /gene="ACTL6B"
                     /gene_synonym="ACTL6; arpNalpha; BAF53B; DEE76; EIEE76;
                     IDDSSAD; SMARCN2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gagtcccgcc ccgccaggga tcccgggagc tgtccggccg cctcggtgct gatcccgcca
       61 ccgcccacgg gccgctagca gcgcagcggg cactatgagc gggggcgtct acggcggaga
      121 tgaggtgggg gcgctggtct ttgacattgg ctccttctca gtccgcgctg ggtacgctgg
      181 ggaggactgt cccaaggctg acttccccac cacagtgggg ctgctggccg cggaggaggg
      241 gggcgggctg gagctggagg gggacaaaga gaagaaaggg aagatcttcc acatcgacac
      301 caatgccctg cacgtgcctc gggatggagc ggaggtcatg tcgcccctca agaatggcat
      361 gatcgaggac tgggagtgct tccgagccat cctggatcac acctacagca aacacgtcaa
      421 gtctgagcca aacctgcacc cagtgctcat gtccgaggct ccgtggaaca cacgggccaa
      481 gcgggagaag ctgacagagc tgatgttcga gcagtacaac attcctgcct tcttcttatg
      541 caagacggct gtgctcaccg cctttgcaaa cgggcggtcc actggcctcg tgctggacag
      601 tggagccacc cacaccacgg ccattccagt acatgacggc tacgttctgc agcaaggcat
      661 cgtcaagtcc cctctggcag gggacttcat ctccatgcag tgccgggagc tgttccagga
      721 gatggccatt gacatcatcc caccttacat gatcgcagcc aaggagcctg tccgggaggg
      781 tgccccccca aactggaaga agaaggagaa gctaccccag gtctccaagt cctggcataa
      841 ctacatgtgt aatgaggtga tccaggactt ccaggcctcc gtgctgcagg tctcagactc
      901 cccctacgat gaacaggtgg ctgcacaaat gcccacagtg cactacgaga tgcccaatgg
      961 ctacaataca gactacggcg ccgagcgact ccgcatccct gagggcctgt ttgatccctc
     1021 gaacgtcaag ggcctgtcgg ggaacaccat gttgggtgtg ggccacgtgg tgaccaccag
     1081 catcggcatg tgtgacattg atattcgccc gggcctgtac gggagtgtca ttgtcaccgg
     1141 cgggaacaca ctgctgcagg gcttcactga caggctcaat cgagagcttt cccagaagac
     1201 cccaccgagc atgcgactga aactcattgc cagcaacagc accatggagc gcaagttcag
     1261 cccctggatc gggggttcca tcctggcctc actgggcact ttccagcaga tgtggatctc
     1321 caagcaggaa tatgaggagg gcgggaagca gtgcgtggag cgaaagtgcc cctgatggca
     1381 ctcctcccca cacacctgct cccaagctca gatggaagtc ccttaacccc catgccacat
     1441 tgcccccctc ctcctttccc tcttgtcctc attaatggtg atgtttctgg gttgaaagaa
     1501 gtaaaaatgt tttaagaaaa aaaa
//
