AUTS2
entrez
26053
canonical
uniprot
Q8WXX7
canonical
ensembl
ENSG00000158321
resolver
ensp
ENSP00000344087
resolver
ensp
ENSP00000385263
resolver
ensp
ENSP00000385572
resolver
ensp
ENSP00000478134
resolver
ensp
ENSP00000494226
resolver
ensp
ENSP00000494561
resolver
ensp
ENSP00000496672
resolver
ensp
ENSP00000496726
resolver
enst
ENST00000644506
resolver
enst
ENST00000644939
resolver
genesymbol
AUTS2
resolver
genesymbol_syn
KIAA0442
resolver
hgnc
HGNC:14262
resolver
uniprot
A0A024RDL5
resolver
uniprot
A0A2R8Y8C6
resolver
uniprot
A4D1Y9
resolver
uniprot
L7QET3
resolver
uniprot
L7QF75
resolver
uniprot
Q5D049
resolver
uniprot
Q6PJU5
resolver
uniprot
Q9Y4F2
resolver
uniprot_entry
A0A024RDL5_HUMAN
resolver
uniprot_entry
A0A2R8Y8C6_HUMAN
resolver
uniprot_entry
AUTS2_HUMAN
resolver
uniprot_sec
A4D1Y9
resolver
uniprot_sec
L7QET3
resolver
uniprot_sec
L7QF75
resolver
uniprot_sec
Q5D049
resolver
uniprot_sec
Q6PJU5
resolver
uniprot_sec
Q9Y4F2
resolver
amino_acid_sequence
MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDGFAMTSFVTFEALEKDVALKPQERVEKRQTPLTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQLKPGQNSCRDSDSESASGESKGFHRSSSRERLSDSSAPSSLGTGYFCDSDSDQEEKASDASSEKLFNTVIVNKDPELGVGTLPEHDSQDAGPIVPKISGLERSQEKSQDCCKEPIFEPVVLKDPCPQVAQPIPQPQTEPQLRAPSPDPDLVQRTEAPPQPPPLSTQPPQGPPEAQLQPAPQPQVQRPPRPQSPTQLLHQNLPPVQAHPSAQSLSQPLSAYNSSSLSLNSLSSSRSSTPAKTQPAPPHISHHPSASPFPLSLPNHSPLHSFTPTLQPPAHSHHPNMFAPPTALPPPPPLTSGSLQVAGHPAGSTYSEQDILRQELNTRFLASQSADRGASLGPPPYLRTEFHQHQHQHQHTHQHTHQHTFTPFPHAIPPTAIMPTPAPPMFDKYPTKVDPFYRHSLFHSYPPAVSGIPPMIPPTGPFGSLQGAFQPKTSNPIDVAARPGTVPHTLLQKDPRLTDPFRPMLRKPGKWCAMHVHIAWQIYHHQQKVKKQMQSDPHKLDFGLKPEFLSRPPGPSLFGAIHHPHDLARPSTLFSAAGAAHPTGTPFGPPPHHSNFLNPAAHLEPFNRPSTFTGLAAVGGNAFGGLGNPSVTPNSMFGHKDGPSVQNFSNPHEPWNRLHRTPPSFPTPPPWLKPGELERSASAAAHDRDRDVDKRDSSVSKDDKERESVEKRHSSHPSPAPVLPVNALGHTRSSTEQIRAHLNTEAREKDKPKERERDHSESRKDLAADEHKAKEGHLPEKDGHGHEGRAAGEEAKQLARVPSPYVRTPVVESARPNSTSSREAEPRKGEPAYENPKKSSEVKVKEERKEDHDLPPEAPQTHRASEPPPPNSSSSVHPGPLASMPMTVGVTGIHPMNSISSLDRTRMMTPFMGISPLPGGERFPYPSFHWDPIRDPLRDPYRELDIHRRDPLGRDFLLRNDPLHRLSTPRLYEADRSFRDREPHDYSHHHHHHHHPLSVDPRREHERGGHLDERERLHMLREDYEHTRLHSVHPASLDGHLPHPSLITPGLPSMHYPRISPTAGNQNGLLNKTPPTAALSAPPPLISTLGGRPVSPRRTTPLSAEIRERPPSHTLKDIEAR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 26 (MRD26) [MIM:615834]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. {ECO:0000269|PubMed:23332918}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity). {ECO:0000250|UniProtKB:A0A087WPF7, ECO:0000269|PubMed:25519132}.
uniprot
proteins
mass_dalton
138982
uniprot
proteins
protein_family
AUTS2 family
uniprot
proteins
pubmed
12160723
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23332918
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25519132
uniprot
proteins
pubmed
9455477
uniprot
proteins
sequence_length
1259
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25519132}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:A0A087WPF7}. Cell projection, growth cone {ECO:0000250|UniProtKB:A0A087WPF7}. Note=Detected both in cytoplasm and nucleus. Colocalizes with RAC1 at actin-rich growth cones. Detected on the promoter region of actively transcribed genes. {ECO:0000250|UniProtKB:A0A087WPF7}.
uniprot
proteins