Gene Gene information from NCBI Gene database.
Entrez ID 60313
Gene name GC-rich promoter binding protein 1 like 1
Gene symbol GPBP1L1
Synonyms (NCBI Gene)
SP192
Chromosome 1
Chromosome location 1p34.1
miRNA miRNA information provided by mirtarbase database.
264
miRTarBase ID miRNA Experiments Reference
MIRT021384 hsa-miR-9-5p Microarray 17612493
MIRT028375 hsa-miR-32-5p Sequencing 20371350
MIRT029427 hsa-miR-26b-5p Microarray 19088304
MIRT044129 hsa-miR-30e-5p CLASH 23622248
MIRT036480 hsa-miR-1226-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 16189514, 28514442, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HC44
Protein name Vasculin-like protein 1 (GC-rich promoter-binding protein 1-like 1)
Protein function Possible transcription factor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15337 Vasculin 378 471 Vascular protein family Vasculin-like 1 Family
Sequence
MAQHDFVPAWLNFSTPQSAKSPTATFEKHGEHLPRGEGRFGVSRRRHNSSDGFFNNGPLR
TAGDSWHQPSLFRHDSVDSGVSKGAYAGITGNPSGWHSSSRGHDGMSQRSGGGTGNHRHW
NGSFHSRKGCAFQEKPPMEIREEKKEDKVEKLQFEEEDFPSLNPEAGKQHQPCRPIGTPS
GVWENPPSAKQPSKMLVIKKVSKEDPAAAFSAAFTSPGSHHANGNKLSSVVPSVYKNLVP
KPVPPPSKPNAWKANRMEHKSGSLSSSRESAFTSPISVTKPVVLASGAALSSPKESPSST
TPPIEISSSRLTKLTRRTTDRKSEFLKTLKDDRNGDFSENRDCDKLEDLEDNSTPEPKEN
GEEGCHQNGLALPVVEEGEVLSHSLEAEHRLLKAMGWQEYPENDENCLPLTEDELKEFHM
KTEQLRRNGFGKNGFLQSRSSSLFSPWRSTCKAEFEDSDTETSSSETSDDD
AWK
Sequence length 474
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
HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations