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MT001166

UniProt Annotations

Entry Information

Gene Name	autophagy/beclin-1 regulator 1
Protein Entry	AMRA1_HUMAN
UniProt ID	Q9C0C7
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q9C0C7-1; Sequence=Displayed; Name=2; IsoId=Q9C0C7-2; Sequence=VSP_030657; Name=3; IsoId=Q9C0C7-3; Sequence=VSP_030655; Name=4; IsoId=Q9C0C7-4; Sequence=VSP_030654; Name=5; IsoId=Q9C0C7-5; Sequence=VSP_030654, VSP_030656; Name=6; IsoId=Q9C0C7-6; Sequence=VSP_030654, VSP_030655, VSP_045989, VSP_045990; Note=No experimental confirmation available. Ref.4 (AL834190) sequence differs from that shown due to a frameshift in position 745. {ECO:0000305};
Function	Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity). {ECO:0000250}.
Interaction	P10415:BCL2; NbExp=10; IntAct=EBI-2512975, EBI-77694; Q14457:BECN1; NbExp=8; IntAct=EBI-2512975, EBI-949378; P12504:vif (xeno); NbExp=5; IntAct=EBI-2512975, EBI-779991;
Sequence Caution	Sequence=BAA91067.1; Type=Frameshift; Positions=682; Evidence={ECO:0000305}; Sequence=BAB14457.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB21827.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Contains 3 WD repeats. {ECO:0000255\|PROSITE- ProRule:PRU00221}.
Subcellular Location	Cytoplasmic vesicle, autophagosome {ECO:0000250}. Note=Localizes also to discrete punctae along the ciliary axoneme. {ECO:0000250}.
Subunit	Interacts with BECN1. Probably forms a complex with BECN1 and PIK3C3 (By similarity). Interacts with BECN1P1/BECN2. {ECO:0000250, ECO:0000269\|PubMed:23954414}.