FKBPL (FKBP prolyl isomerase like)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 63943
Gene name FKBP prolyl isomerase like
Gene symbol FKBPL
Synonyms (NCBI Gene)
DIR1NG7WISP39
Chromosome 6
Chromosome location 6p21.32
Summary The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in th
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT049580 hsa-miR-92a-3p CLASH 23622248
MIRT047053 hsa-miR-183-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25036637, 25416956, 28514442, 32296183, 33961781
GO:0005576 Component Extracellular region IDA 25767277
GO:0005829 Component Cytosol TAS
GO:0009314 Process Response to radiation NAS 10521921
GO:0045765 Process Regulation of angiogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617076 13949 ENSG00000204315
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UIM3
Protein name FK506-binding protein-like (WAF-1/CIP1 stabilizing protein 39) (WISp39)
Protein function May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13432 TPR_16 214 → 279 Family
PF00515 TPR_1 286 → 319 Tetratricopeptide repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with higher levels in testis. {ECO:0000269|PubMed:15664193}.
Sequence 
METPPVNTIGEKDTSQPQQEWEKNLRENLDSVIQIRQQPRDPPTETLELEVSPDPASQIL
EHTQGAEKLVAELEGDSHKSHGSTSQMPEALQASDLWYCPDGSFVKKIVIRGHGLDKPKL
GSCCRVLALGFPFGSGPPEGWTELTMGVGPWREETWGELIEKCLESMCQGEEAELQLPGH
SGPPVRLTLASFTQGRDSWELETSEKEALAREERARGTELFRAGNPEGAARCYGRALRLL
LTLPPPGPPERTVLHANLAACQLLLGQPQLAAQSCDRVLEREPGHLKALYRRGVAQAALG
NLEKATADLKKVLAIDPKNRAAQEELGKVVIQGKNQDAGLAQGLRKMFG
Sequence length 349
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
    The role of GTSE1 in G2/M progression after G2 checkpoint
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FKBPL-related disorder Likely benign; Benign rs148586207, rs28732176, rs61747172, rs373328430, rs35580488, rs117160266 RCV003909347
RCV003977279
RCV003913856
RCV003931709
RCV003932197
RCV003976653
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Associate 26199320, 34212559
Breast Neoplasms Associate 20103631
Carcinogenesis Associate 25937444, 36295491
Carcinoma Endometrioid Associate 36295491
Carcinoma Renal Cell Associate 38233415
Diabetes Gestational Inhibit 34149611
Diabetes Mellitus Inhibit 34149611
Diabetes Mellitus Type 1 Inhibit 34149611
Endometrial Hyperplasia Associate 36295491
Hereditary Breast and Ovarian Cancer Syndrome Associate 36295491