BCAS3
entrez
54828
canonical
uniprot
Q9H6U6
canonical
ensembl
ENSG00000141376
resolver
ensp
ENSP00000375067
resolver
ensp
ENSP00000385323
resolver
ensp
ENSP00000386173
resolver
ensp
ENSP00000466078
resolver
ensp
ENSP00000468592
resolver
ensp
ENSP00000775617
resolver
genesymbol
BCAS3
resolver
hgnc
HGNC:14347
resolver
uniprot
Q05D99
resolver
uniprot
Q17RM0
resolver
uniprot
Q6KF21
resolver
uniprot
Q8IXI6
resolver
uniprot
Q8NDR8
resolver
uniprot
Q8TDL9
resolver
uniprot
Q8TDM1
resolver
uniprot
Q8WY55
resolver
uniprot
Q9BVF0
resolver
uniprot
Q9H957
resolver
uniprot
Q9H9Y9
resolver
uniprot
Q9NXP4
resolver
uniprot_entry
BCAS3_HUMAN
resolver
uniprot_entry
Q05D99_HUMAN
resolver
uniprot_sec
Q17RM0
resolver
uniprot_sec
Q6KF21
resolver
uniprot_sec
Q8IXI6
resolver
uniprot_sec
Q8NDR8
resolver
uniprot_sec
Q8TDL9
resolver
uniprot_sec
Q8TDM1
resolver
uniprot_sec
Q8WY55
resolver
uniprot_sec
Q9BVF0
resolver
uniprot_sec
Q9H957
resolver
uniprot_sec
Q9H9Y9
resolver
uniprot_sec
Q9NXP4
resolver
amino_acid_sequence
MNEAMATDSPRRPSRCTGGVVVRPQAVTEQSYMESVVTFLQDVVPQAYSGTPLTEEKEKIVWVRFENADLNDTSRNLEFHEIHSTGNEPPLLIMIGYSDGMQVWSIPISGEAQELFSVRHGPIRAARILPAPQFGAQKCDNFAEKRPLLGVCKSIGSSGTSPPYCCVDLYSLRTGEMVKSIQFKTPIYDLHCNKRILVVVLQEKIAAFDSCTFTKKFFVTSCYPCPGPNMNPIALGSRWLAYAENKLIRCHQSRGGACGDNIQSYTATVISAAKTLKSGLTMVGKVVTQLTGTLPSGVTEDDVAIHSNSRRSPLVPGIITVIDTETVGEGQVLVSEDSDSDGIVAHFPAHEKPVCCMAFNTSGMLLVTTDTLGHDFHVFQILTHPWSSSQCAVHHLYTLHRGETEAKVQDICFSHDCRWVVVSTLRGTSHVFPINPYGGQPCVRTHMSPRVVNRMSRFQKSAGLEEIEQELTSKQGGRCSPVPGLSSSPSGSPLHGKLNSQDSYNNFTNNNPGNPRLSPLPSLMVVMPLAQIKQPMTLGTITKRTGPYLFGAGCFSIKAPCKVKPPPQISPSKSMGGEFCVAAIFGTSRSWFANNAGLKREKDQSKQVVVESLYIISCYGTLVEHMMEPRPLSTAPKISDDTPLEMMTSPRASWTLVRTPQWNELQPPFNANHPLLLAADAVQYYQFLLAGLVPPGSPGPITRHGSYDSLASDHSGQEDEEWLSQVEIVTHTGPHRRLWMGPQFQFKTIHPSGQTTVISSSSSVLQSHGPSDTPQPLLDFDTDDLDLNSLRIQPVRSDPVSMPGSSRPVSDRRGVSTVIDAASGTFDRSVTLLEVCGSWPEGFGLRHMSSMEHTEEGLRERLADAMAESPSRDVVGSGTELQREGSIETLSNSSGSTSGSIPRNFDGYRSPLPTNESQPLSLFPTGFP
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving BCAS3 has been found in some breast carcinoma cell lines. Translocation t(17;20)(q23;q13) with BCAS4.; DISEASE: Hengel-Maroofian-Schols syndrome (HEMARS) [MIM:619641]: An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy or early childhood. Affected individuals have delayed walking or inability to walk, impaired intellectual development with poor or absent speech, lower limb spasticity, poor overall growth, and dysmorphic facial features. Some patients develop seizures. Brain imaging shows thinning of the posterior part of the corpus callosum, delayed myelination, and cerebral and cerebellar atrophy. {ECO:0000269|PubMed:34022130}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin. Plays a regulatory role in autophagic activity. In complex with PHAF1, associates with the preautophagosomal structure during both non-selective and selective autophagy (PubMed:33499712). Probably binds phosphatidylinositol 3-phosphate (PtdIns3P) which would mediate the recruitment preautophagosomal structures (PubMed:33499712). {ECO:0000250|UniProtKB:Q8CCN5, ECO:0000269|PubMed:17505058, ECO:0000269|PubMed:33499712}.
uniprot
proteins
mass_dalton
101237
uniprot
proteins
mutagenesis
MUTAGEN 350; /note="H->A: No effect on recruitment to preautophagosomal structure in response to mitophagy. No effect on interaction with PHAF1."; /evidence="ECO:0000269|PubMed:33499712"; MUTAGEN 370; /note="D->A: Decreases recruitment to preautophagosomal structure in response to mitophagy. No effect on interaction with PHAF1."; /evidence="ECO:0000269|PubMed:33499712"; MUTAGEN 372; /note="L->A: No effect on recruitment to preautophagosomal structure in response to mitophagy. No effect on interaction with PHAF1."; /evidence="ECO:0000269|PubMed:33499712"; MUTAGEN 377; /note="H->A: No effect on recruitment to preautophagosomal structure in response to mitophagy. No effect on interaction with PHAF1."; /evidence="ECO:0000269|PubMed:33499712"; MUTAGEN 400; /note="H->A: Decreases recruitment to preautophagosomal structure in response to mitophagy. No effect on interaction with PHAF1."; /evidence="ECO:0000269|PubMed:33499712"; MUTAGEN 401; /note="R->A: Almost abolishes recruitment to preautophagosomal structure in response to mitophagy. No effect on interaction with PHAF1."; /evidence="ECO:0000269|PubMed:33499712"; MUTAGEN 426; /note="R->A: Decreases recruitment to preautophagosomal structure in response to mitophagy. No effect on interaction with PHAF1."; /evidence="ECO:0000269|PubMed:33499712"; MUTAGEN 428; /note="T->A: Almost abolishes recruitment to preautophagosomal structure in response to mitophagy. No effect on interaction with PHAF1."; /evidence="ECO:0000269|PubMed:33499712"; MUTAGEN 430; /note="H->A: Almost abolishes recruitment to preautophagosomal structure in response to mitophagy. No effect on interaction with PHAF1."; /evidence="ECO:0000269|PubMed:33499712
uniprot
proteins
protein_family
BCAS3 family
uniprot
proteins
pubmed
12378525
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16099728
uniprot
proteins
pubmed
16617102
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17505058
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18030336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22300583
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
33499712
uniprot
proteins
pubmed
34022130
uniprot
proteins
sequence_length
928
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16617102, ECO:0000269|PubMed:17505058}. Cytoplasm {ECO:0000269|PubMed:16617102, ECO:0000269|PubMed:17505058, ECO:0000269|PubMed:18030336, ECO:0000269|PubMed:33499712}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8CCN5}. Preautophagosomal structure {ECO:0000269|PubMed:33499712}. Note=Localizes in the cytoplasm in stationary cells. Translocates from the cytoplasm to the leading edge in motile cells. Colocalizes with microtubules and intermediate filaments in both stationary and motile cells (By similarity). Associates with chromatin. Recruited to estrogen receptor-induced promoters in a PELP1-dependent manner. The BCAS3:PHAF1 complex is recruited to the preautophagosomal structures adjacent to the damaged mitochondria upon mitophagy in a PRKN-PINK1 dependent manner (PubMed:33499712). {ECO:0000250|UniProtKB:Q8CCN5, ECO:0000269|PubMed:17505058, ECO:0000269|PubMed:33499712}.
uniprot
proteins