FKBPL (FKBP prolyl isomerase like)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63943
Gene name Gene Name - the full gene name approved by the HGNC.
FKBP prolyl isomerase like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FKBPL
Synonyms (NCBI Gene) Gene synonyms aliases
DIR1, NG7, WISP39
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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
GO:0005576 Component Extracellular region IDA 25767277
GO:0005829 Component Cytosol TAS
GO:0009314 Process Response to radiation NAS 10521921
GO:0050821 Process Protein stabilization TAS
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
617076 13949 ENSG00000204315
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)		 20103631
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)		 20103631
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)		 20103631
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Psoriasis Psoriasis GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining
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