TBC1D25 (TBC1 domain family member 25)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4943
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 25
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D25
Synonyms (NCBI Gene) Gene synonyms aliases
MG81, OATL1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(114)
miRTarBase ID miRNA Experiments Reference
MIRT031139 hsa-miR-19b-3p Sequencing 20371350
MIRT036096 hsa-miR-1296-5p CLASH 23622248
MIRT662792 hsa-miR-3675-3p HITS-CLIP 23824327
MIRT662791 hsa-miR-873-5p HITS-CLIP 23824327
MIRT662790 hsa-miR-6870-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 21383079
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 21383079, 22354992, 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
311240 8092 ENSG00000068354
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q3MII6
Protein name TBC1 domain family member 25
Protein function Acts as a GTPase-activating protein specific for RAB33B. Involved in the regulation of autophagosome maturation, the process in which autophagosomes fuse with endosomes and lysosomes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 231 → 436 Rab-GTPase-TBC domain Family
Sequence 
MATASGASDLSGSGAPPPGVGAQAAAAAEEEEREVVRVRVKKCESFLPPEFRSFAVDPQI
TSLDVLQHILIRAFDLSGKKNFGISYLGRDRLGQEVYLSLLSDWDLSTAFATASKPYLQL
RVDIRPSEDSPLLEDWDIISPKDVIGSDVLLAEKRSSLTTAALPFTQSILTQVGRTLSKV
QQVLSWSYGEDVKPFKPPLSDAEFHTYLNHEGQLSRPEELRLRIYHGGVEPSLRKVVWRY
LLNVYPDGLTGRERMDYMKRKSREYEQLKSEWAQRANPEDLEFIRSTVLKDVLRTDRAHP
YYAGPEDGPHLRALHDLLTTYAVTHPQVSYCQGMSDLASPILAVMDHEGHAFVCFCGIMK
RLAANFHPDGRAMATKFAHLKLLLRHADPDFYQYLQEAGADDLFFCYRWLLLELKREFAF
DDALRMLEVTWSSLPPDPPEHEVELVGPPSQVADAGFGGHRGWPVRQRHMLRPAGGGGST
FEDAVDHLATASQGPGGGGRLLRQASLDGLQQLRDNMGSRRDPLVQLPHPAALISSKSLS
EPLLNSPDPLLSSFSHPDSPSSSSPPSTQEASPTGDMAVGSPLMQEVGSPKDPGKSLPPV
PPMGLPPPQEFGRGNPFMLFLCLAILLEHRDHIMRNGLDYNELAMHFDRLVRKHHLGRVL
RRARALFADYLQSEVWDSEEGAEATAAS
Sequence length 688
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    TBC/RABGAPs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Oligospermia oligospermia rs1602125411 N/A
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Norrie disease Associate 7908152
Osteitis Deformans Associate 25115182