WormBase Tree Display for Gene: WBGene00006915
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| WBGene00006915 | SMap | S_parent | Sequence | CHROMOSOME_II | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | vha-6 | |||||||
| Sequence_name | VW02B12L.1 | ||||||||
| Molecular_name | VW02B12L.1 | ||||||||
| VW02B12L.1.1 | |||||||||
| CE18980 | |||||||||
| Other_name | CELE_VW02B12L.1 | Accession_evidence | NDB | BX284602 | |||||
| Public_name | vha-6 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:43 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| 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 |
