Gene Gene information from NCBI Gene database.
Entrez ID 9779
Gene name TBC1 domain family member 5
Gene symbol TBC1D5
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p24.3
miRNA miRNA information provided by mirtarbase database.
570
miRTarBase ID miRNA Experiments Reference
MIRT019683 hsa-miR-375 Microarray 20215506
MIRT484645 hsa-miR-361-3p HITS-CLIP 19536157
MIRT484641 hsa-miR-3679-3p HITS-CLIP 19536157
MIRT484640 hsa-miR-4446-5p HITS-CLIP 19536157
MIRT484647 hsa-miR-6779-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0002092 Process Positive regulation of receptor internalization IMP 22354992
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 16189514, 16713569, 20923837, 22354992, 24603492, 24980502, 27385586, 31515488, 32296183, 32814053, 33961781, 34524948, 35044719, 35271311, 37172566
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615740 19166 ENSG00000131374
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92609
Protein name TBC1 domain family member 5
Protein function May act as a GTPase-activating protein (GAP) for Rab family protein(s). May act as a GAP for RAB7A. Can displace RAB7A and retromer CSC subcomplex from the endosomal membrane to the cytosol; at least retromer displacement seems to require its ca
PDB 5GTU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 84 381 Rab-GTPase-TBC domain Family
Sequence
MYHSLSETRHPLQPEEQEVGIDPLSSYSNKSGGDSNKNGRRTSSTLDSEGTFNSYRKEWE
ELFVNNNYLATIRQKGINGQLRSSRFRSICWKLFLCVLPQDKSQWISRIEELRAWYSNIK
EIHITNPRKVVGQQDLMINNPLSQDEGSLWNKFFQDKELRSMIEQDVKRTFPEMQFFQQE
NVRKILTDVLFCYARENEQLLYKQGMHELLAPIVFVLHCDHQAFLHASESAQPSEEMKTV
LNPEYLEHDAYAVFSQLMETAEPWFSTFEHDGQKGKETLMTPIPFARPQDLGPTIAIVTK
VNQIQDHLLKKHDIELYMHLNRLEIAPQIYGLRWVRLLFGREFPLQDLLVVWDALFADGL
SLGLVDYIFVAMLLYIRDALI
SSNYQTCLGLLMHYPFIGDVHSLILKALFLRDPKRNPRP
VTYQFHPNLDYYKARGADLMNKSRTNAKGAPLNINKVSNSLINFGRKLISPAMAPGSAGG
PVPGGNSSSSSSVVIPTRTSAEAPSHHLQQQQQQQRLMKSESMPVQLNKGLSSKNISSSP
SVESLPGGREFTGSPPSSATKKDSFFSNISRSRSHSKTMGRKESEEELEAQISFLQGQLN
DLDAMCKYCAKVMDTHLVNIQDVILQENLEKEDQILVSLAGLKQIKDILKGSLRFNQSQL
EAEENEQITIADNHYCSSGQGQGRGQGQSVQMSGAIKQASSETPGCTDRGNSDDFILISK
DDDGSSARGSFSGQAQPLRTLRSTSGKSQAPVCSPLVFSDPLMGPASASSSNPSSSPDDD
SSKDSGFTIVSPLDI
Sequence length 795
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTERIOR UVEITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 17171680
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease GWASCAT_DG 28892059
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia GWASCAT_DG 25056061, 26198764, 28991256, 29483656, 30285260, 31268507
★★☆☆☆
Found in Text Mining + Unknown/Other Associations