Atp6v1b1 Gene Search Result

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14 records found for search term Atp6v1b1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	ENCODES a protein that exhibits protein-containing complex binding; proton transmembrane transporter activity (ortholog); INVOLVED IN adult behavior (ortholog); ATP metabolic process (ortholog); calcium ion homeostasis (ortholog); PARTICIPATES IN oxidative phosphorylation pathway; phagocytosis pathw ... (more) ay; rheumatoid arthritis pathway; ASSOCIATED WITH autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss (ortholog); autosomal recessive nonsyndromic deafness (ortholog); Distal Renal Tubular Acidosis (ortholog); FOUND IN apical plasma membrane; basolateral plasma membrane; extrinsic component of synaptic vesicle membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; 4,4'-sulfonyldiphenol	4	117781444	117800103	Rat	168	symbol , PhenoGen	gene, protein-coding, PROVISIONAL [RefSeq]
1321627	ATP6V1B1	ATPase H+ transporting V1 subunit B1	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated en ... (more) docytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]	2	70935900	70965431	Human	218	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1321628	Atp6v1b1	ATPase, H+ transporting, lysosomal V1 subunit B1	Enables proton transmembrane transporter activity. Involved in regulation of pH and synaptic vesicle lumen acidification. Acts upstream of or within several processes, including renal sodium excretion; renal sodium ion transport; and renal water homeostasis. Located in several cellular components, i ... (more) ncluding basolateral plasma membrane; lateral plasma membrane; and microvillus. Is expressed in several structures, including limb; lower jaw; metanephros; nervous system; and sensory organ. Used to study autosomal recessive nonsyndromic deafness and enlarged vestibular aqueduct. Human ortholog(s) of this gene implicated in renal tubular acidosis. Orthologous to human ATP6V1B1 (ATPase H+ transporting V1 subunit B1). [provided by Alliance of Genome Resources, Jul 2025]	6	83719999	83735837	Mouse	190	symbol , PhenoGen , description	gene, protein-coding, VALIDATED [RefSeq]
8758678	Atp6v1b1	ATPase H+ transporting V1 subunit B1	ENCODES a protein that exhibits protein-containing complex binding (ortholog); proton transmembrane transporter activity (ortholog); INVOLVED IN adult behavior (ortholog); ATP metabolic process (ortholog); calcium ion homeostasis (ortholog); ASSOCIATED WITH autosomal recessive distal renal tubular a ... (more) cidosis 3 with or without sensorineural hearing loss (ortholog); autosomal recessive nonsyndromic deafness (ortholog); Distal Renal Tubular Acidosis (ortholog); FOUND IN apical plasma membrane (ortholog); basolateral plasma membrane (ortholog); cytoplasm (ortholog)	NW_004955424	14256096	14281572	Chinchilla	60	symbol	gene, protein-coding, MODEL [RefSeq]
11936342	ATP6V1B1	ATPase H+ transporting V1 subunit B1	ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN adult behavior (ortholog); ATP metabolic process (ortholog); chloride ion homeostasis (ortholog); ASSOCIATED WITH autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss ... (more) (ortholog); autosomal recessive nonsyndromic deafness (ortholog); Distal Renal Tubular Acidosis (ortholog); FOUND IN basolateral plasma membrane (ortholog); extrinsic component of synaptic vesicle membrane (ortholog)	2A	71000096	71030306	Bonobo	68	symbol	gene, protein-coding, MODEL [RefSeq]
12244297	ATP6V1B1	ATPase H+ transporting V1 subunit B1	ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN adult behavior (ortholog); ATP metabolic process (ortholog); chloride ion homeostasis (ortholog); ASSOCIATED WITH autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss ... (more) (ortholog); autosomal recessive nonsyndromic deafness (ortholog); Distal Renal Tubular Acidosis (ortholog); FOUND IN basolateral plasma membrane (ortholog); extrinsic component of synaptic vesicle membrane (ortholog)	10	69261311	69287540	Dog	74	symbol	gene, protein-coding, MODEL [RefSeq]
12667944	Atp6v1b1	ATPase H+ transporting V1 subunit B1	ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN adult behavior (ortholog); ATP metabolic process (ortholog); chloride ion homeostasis (ortholog); ASSOCIATED WITH autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss ... (more) (ortholog); autosomal recessive nonsyndromic deafness (ortholog); Distal Renal Tubular Acidosis (ortholog); FOUND IN basolateral plasma membrane (ortholog); extrinsic component of synaptic vesicle membrane (ortholog)	NW_004936491	15112422	15138716	Squirrel	66	symbol	gene, protein-coding, MODEL [RefSeq]
14265111	ATP6V1B1	ATPase H+ transporting V1 subunit B1	ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN adult behavior (ortholog); ATP metabolic process (ortholog); chloride ion homeostasis (ortholog); ASSOCIATED WITH autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss ... (more) (ortholog); autosomal recessive nonsyndromic deafness (ortholog); Distal Renal Tubular Acidosis (ortholog); FOUND IN basolateral plasma membrane (ortholog); extrinsic component of synaptic vesicle membrane (ortholog); INTERACTS WITH deoxynivalenol				Pig	71	symbol	gene, protein-coding, MODEL [RefSeq]
625999592	Atp6v1b1	ATPase H+ transporting V1 subunit B1	ENCODES a protein that exhibits protein-containing complex binding (ortholog); proton transmembrane transporter activity (ortholog); INVOLVED IN adult behavior (ortholog); ATP metabolic process (ortholog); calcium ion homeostasis (ortholog); ASSOCIATED WITH autosomal recessive distal renal tubular a ... (more) cidosis 3 with or without sensorineural hearing loss (ortholog); autosomal recessive nonsyndromic deafness (ortholog); Distal Renal Tubular Acidosis (ortholog); FOUND IN apical plasma membrane (ortholog); basolateral plasma membrane (ortholog); cytoplasm (ortholog)				Black Rat	59	symbol	gene, protein-coding, MODEL [RefSeq]
18371753	ATP6V1B1	ATPase H+ transporting V1 subunit B1	ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN adult behavior (ortholog); ATP metabolic process (ortholog); chloride ion homeostasis (ortholog); ASSOCIATED WITH autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss ... (more) (ortholog); autosomal recessive nonsyndromic deafness (ortholog); Distal Renal Tubular Acidosis (ortholog); FOUND IN basolateral plasma membrane (ortholog); extrinsic component of synaptic vesicle membrane (ortholog)				Green Monkey	67	symbol	gene, protein-coding, MODEL [RefSeq]
155236198	atp6v1b1						Tropical Clawed Frog		symbol	gene, null
18911635	Atp6v1b1	ATPase H+ transporting V1 subunit B1	ENCODES a protein that exhibits protein-containing complex binding (ortholog); proton transmembrane transporter activity (ortholog); INVOLVED IN adult behavior (ortholog); ATP metabolic process (ortholog); calcium ion homeostasis (ortholog); ASSOCIATED WITH autosomal recessive distal renal tubular a ... (more) cidosis 3 with or without sensorineural hearing loss (ortholog); autosomal recessive nonsyndromic deafness (ortholog); Distal Renal Tubular Acidosis (ortholog); FOUND IN apical plasma membrane (ortholog); basolateral plasma membrane (ortholog); cytosol (ortholog)				Naked Mole-Rat	67	symbol	gene, protein-coding, MODEL [RefSeq]
155245463	atp6v1b1.L						African Clawed Frog		symbol	gene, null
8695112	ATP6V1B1-AS1	ATP6V1B1 antisense RNA 1	INTERACTS WITH beta-lapachone; cadmium dichloride	2	70942013	70948611	Human	2	symbol , COSMIC , name , Human Proteome Map	gene, ncrna, VALIDATED [RefSeq]