WormBase Tree Display for Gene: WBGene00006915
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WBGene00006915 | SMap | S_parent | Sequence | CHROMOSOME_II | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
Gene_info | Biotype | SO:0001217 | |||||
Gene_class | vha | ||||||
Allele (54) | |||||||
Legacy_information | [Pujol N] vha-6 is expressed only in the intestine, from the embryonic coma stage through larvae and adult | ||||||
Strain | WBStrain00036524 | ||||||
RNASeq_FPKM (74) | |||||||
GO_annotation (17) | |||||||
Ortholog (58) | |||||||
Paralog | WBGene00006768 | Caenorhabditis elegans | From_analysis | Panther | |||
WormBase-Compara | |||||||
WBGene00006914 | Caenorhabditis elegans | From_analysis | Panther | ||||
WormBase-Compara | |||||||
WBGene00006916 | Caenorhabditis elegans | From_analysis | Panther | ||||
WormBase-Compara | |||||||
Structured_description | Concise_description | vha-6 encodes an ortholog of subunit a of the membrane-bound (V0) domainof vacuolar proton-translocating ATPase (V-ATPase); VHA-6 is orthologousto human ATP6N1A (OMIM:192130), ATP6V0A2, ATP6V0A4 (OMIM:605239, mutatedin distal renal tubular acidosis), and TCIRG1 (OMIM:604592, mutated inosteopetrosis); VHA-6 is expressed in germline (P2 through Z3 cellsuntil the comma stage), on the apical surface of postembryonicintestinal cells, and at the junction between pharynx and intestine;VHA-6 is required for growth and survival past the L1 larval stage;vha-6(RNAi) animals arrest as L1 larvae and remain alive (but do notgrow) for one week; in S. cerevisiae, different V0 a-subunits (Stv1p andVph1p) direct the assembly of V-ATPases to different membranes andorganelles, suggesting that the profusion of such subunits in C. elegans(co-orthologous VHA-5, VHA-6, VHA-7, and six UNC-32 isoforms) may have asimilar function; VHA-6 is predicted to capture protons from V-ATPasetransmembrane rotor components and export the protons across themembrane. | Paper_evidence | WBPaper00004601 | |||
WBPaper00004842 | |||||||
WBPaper00025183 | |||||||
WBPaper00028773 | |||||||
WBPaper00028774 | |||||||
WBPaper00028775 | |||||||
Curator_confirmed | WBPerson567 | ||||||
Date_last_updated | 19 Nov 2006 00:00:00 | ||||||
Automated_description | Predicted to enable ATPase binding activity. Involved in nematode larval development. Located in apical plasma membrane. Part of vacuolar proton-transporting V-type ATPase complex. Expressed in Psub2; excretory cell; hypodermis; pharyngeal-intestinal valve; and uterus. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive cutis laxa type IIA; autosomal recessive osteopetrosis 1; and developmental and epileptic encephalopathy 104. Is an ortholog of several human genes including ATP6V0A1 (ATPase H+ transporting V0 subunit a1); ATP6V0A2 (ATPase H+ transporting V0 subunit a2); and TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3). | Paper_evidence | WBPaper00065943 | ||||
Curator_confirmed | WBPerson324 | ||||||
WBPerson37462 | |||||||
Inferred_automatically | This description was generated automatically by a script based on data from the WS291 version of WormBase | ||||||
Date_last_updated | 29 Nov 2023 00:00:00 | ||||||
Disease_info | Potential_model | DOID:0070390 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:865) | ||
DOID:0110942 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11647) | ||||
DOID:14219 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:866) | ||||
DOID:0112171 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:18481) | ||||
EFO:MONDO:0015827 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:866) | ||||
DOID:0070134 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:18481) | ||||
Molecular_info | Corresponding_CDS | VW02B12L.1 | |||||
Corresponding_transcript | VW02B12L.1.1 | ||||||
Other_sequence (71) | |||||||
Associated_feature | WBsf650573 | ||||||
WBsf650574 | |||||||
WBsf989758 | |||||||
WBsf1013237 | |||||||
WBsf223933 | |||||||
Experimental_info | RNAi_result (55) | ||||||
Expr_pattern | Expr851 | ||||||
Expr2404 | |||||||
Expr2407 | |||||||
Expr13465 | |||||||
Expr1029215 | |||||||
Expr1032932 | |||||||
Expr1158019 | |||||||
Expr2017992 | |||||||
Expr2036128 | |||||||
Drives_construct (205) | |||||||
Construct_product | WBCnstr00013297 | ||||||
WBCnstr00016253 | |||||||
WBCnstr00038389 | |||||||
Antibody | WBAntibody00000406 | ||||||
Microarray_results (20) | |||||||
Expression_cluster (230) | |||||||
Interaction (123) | |||||||
Map_info | Map | II | Position | 3.46558 | Error | 0.000297 | |
Positive | Positive_clone | VW02B12L | Inferred_automatically | From CDS info | |||
From sequence, transcript, pseudogene data | |||||||
Pseudo_map_position | |||||||
Reference (28) | |||||||
Remark | Sequence From: Pujol Nathalie via ACEDB feedback page <pujol@lgpd.univ-mrs.fr> | ||||||
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | ||||||
Method | Gene |