ENSG00000116039
Homo sapiens | |
Features
| Gene ID: | ENSG00000116039 | | | | | Biological name : | ATP6V1B1 | | | | | Synonyms : | ATP6V1B1 / ATPase H+ transporting V1 subunit B1 / P15313 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 2 | | Strand: | 1 | | Band: | p13.3 | | Gene start: | 70935868 | | Gene end: | 70965431 | | | | | Corresponding Affymetrix probe sets: | 1554847_at (Human Genome U133 Plus 2.0 Array) 205473_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000234396
Ensembl peptide - ENSP00000408361
Ensembl peptide - ENSP00000407840
Ensembl peptide - ENSP00000388353
NCBI entrez gene - 525
See in Manteia.
OMIM - 192132
RefSeq - NM_001692
RefSeq - XM_011532907
RefSeq Peptide - NP_001683
swissprot - C9JL73
swissprot - C9JZ02
swissprot - P15313
swissprot - C9JNS9
Ensembl - ENSG00000116039
| | | | | Related genetic diseases (OMIM): | 267300 - Renal tubular acidosis with deafness, 267300 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000194 | ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain | | IPR004100 | ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain | | IPR005723 | ATPase, V1 complex, subunit B | | IPR020003 | ATPase, alpha/beta subunit, nucleotide-binding domain, active site | | IPR022879 | V-type ATP synthase regulatory subunit B/beta | | IPR024034 | ATPase, F1/V1 complex, beta/alpha subunit, C-terminal | | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| | HP:0000787 | Kidney stones | |
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| | HP:0001947 | Renal tubular acidosis | |
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Interacting proteins (from Reactome)
| ENSG00000147416 | P21281 / ATP6V1B2 / ATPase H+ transporting V1 subunit B2 | / complex | | ENSG00000116039 | P15313 / ATP6V1B1 / ATPase H+ transporting V1 subunit B1 | / complex |
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