Gene Gene information from NCBI Gene database.
Entrez ID 80851
Gene name SH3 binding domain protein 5 like
Gene symbol SH3BP5L
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q44
miRNA miRNA information provided by mirtarbase database.
311
miRTarBase ID miRNA Experiments Reference
MIRT048323 hsa-miR-106a-5p CLASH 23622248
MIRT186933 hsa-miR-6865-3p HITS-CLIP 23824327
MIRT622296 hsa-miR-1470 HITS-CLIP 23824327
MIRT622295 hsa-miR-4667-3p HITS-CLIP 23824327
MIRT646287 hsa-miR-6832-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0004860 Function Protein kinase inhibitor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 30217979
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 15161933, 28514442, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620652 29360 ENSG00000175137
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L8J4
Protein name SH3 domain-binding protein 5-like (SH3BP-5-like)
Protein function Functions as a guanine nucleotide exchange factor (GEF) for RAB11A.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05276 SH3BP5 54 280 SH3 domain-binding protein 5 (SH3BP5) Family
Sequence
MAELRQVPGGRETPQGELRPEVVEDEVPRSPVAEEPGGGGSSSSEAKLSPREEEELDPRI
QEELEHLNQASEEINQVELQLDEARTTYRRILQESARKLNTQGSHLGSCIEKARPYYEAR
RLAKEAQQETQKAALRYERAVSMHNAAREMVFVAEQGVMADKNRLDPTWQEMLNHATCKV
NEAEEERLRGEREHQRVTRLCQQAEARVQALQKTLRRAIGKSRPYFELKAQFSQILEEHK
AKVTELEQQVAQAKTRYSVALRNLEQISEQIHARRRGGLP
PHPLGPRRSSPVGAEAGPED
MEDGDSGIEGAEGAGLEEGSSLGPGPAPDTDTLSLLSLRTVASDLQKCDSVEHLRGLSDH
VSLDGQELGTRSGGRRGSDGGARGGRHQRSVSL
Sequence length 393
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
OROFACIAL CLEFT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations