Gene Gene information from NCBI Gene database.
Entrez ID 9940
Gene name DLEC1 cilia and flagella associated protein
Gene symbol DLEC1
Synonyms (NCBI Gene)
CFAP81DLC-1DLC1F56FAP81
Chromosome 3
Chromosome location 3p22.2
Summary The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and hea
miRNA miRNA information provided by mirtarbase database.
3
miRTarBase ID miRNA Experiments Reference
MIRT938035 hsa-miR-3663-5p CLIP-seq
MIRT938036 hsa-miR-501-3p CLIP-seq
MIRT938037 hsa-miR-502-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0002357 Process Defense response to tumor cell IMP 30429596
GO:0005515 Function Protein binding IPI 33144677
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 10213508, 33144677
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
604050 2899 ENSG00000008226
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y238
Protein name Deleted in lung and esophageal cancer protein 1 (Deleted in lung cancer protein 1) (DLC-1)
Protein function Essential for spermatogenesis and male fertility (By similarity). May play an important role in sperm head and tail formation (By similarity). May act as a tumor suppressor by inhibiting cell proliferation. {ECO:0000250|UniProtKB:Q8BLA1, ECO:000
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined. Expression is highest in prostate and testis. {ECO:0000269|PubMed:10213508}.
Sequence
METRSSKTRRSLASRTNECQGTMWAPTSPPAGSSSPSQPTWKSSLYSSLAYSEAFHYSFA
ARPRRLTQLALAQRPEPQLLRLRPSSLRTQDISHLLTGVFRNLYSAEVIGDEVSASLIKA
RGSENERHEEFVDQLQQIRELYKQRLDEFEMLERHITQAQARAIAENERVMSQAGVQDLE
SLVRLPPVKSVSRWCIDSELLRKHHLISPEDYYTDTVPFHSAPKGISLPGCSKLTFSCEK
RSVQKKELNKKLEDSCRKKLAEFEDELDHTVDSLTWNLTPKAKERTREPLKKASQPRNKN
WMNHLRVPQRELDRLLLARMESRNHFLKNPRFFPPNTRYGGKSLVFPPKKPAPIGEFQST
EPEQSCADTPVFLAKPPIGFFTDYEIGPVYEMVIALQNTTTTSRYLRVLPPSTPYFALGL
GMFPGKGGMVAPGMTCQYIVQFFPDCLGDFDDFILVETQSAHTLLIPLQARRPPPVLTLS
PVLDCGYCLIGGVKMTRFICKNVGFSVGRFCIMPKTSWPPLSFKAIATVGFVEQPPFGIL
PSVFELAPGHAILVEVLFSPKSLGKAEQTFIIMCDNCQIKELVTIGIGQLIALDLIYISG
EKSQPDPGELTDLTAQHFIRFEPENLRSTARKQLIIRNATHVELAFYWQIMKPNLQPLMP
GETFSMDSIKCYPDKETAFSIMPRKGVLSPHTDHEFILSFSPHELRDFHSVLQMVLEEVP
EPVSSEAESLGHSSYSVDDVIVLEIEVKGSVEPFQVLLEPYALIIPGENYIGINVKKAFK
MWNNSKSPIRYLWGKISDCHIIEVEPGTGVIEPSEVGDFELNFTGGVPGPTSQDLLCEIE
DSPSPVVLHIEAVFKGPALIINVSALQFGLLRLGQKATNSIQIRNVSQLPATWRMKESPV
SLQERPEDVSPFDIEPSSGQLHSLGECRVDITLEALHCQHLETVLELEVENGAWSYLPVY
AEVQKPHVYLQSSQVEVRNLYLGVPTKTTITLINGTLLPTQFHWGKLLGHQAEFCMVTVS
PKHGLLGPSEECQLKLELTAHTQEELTHLALPCHVSGMKKPLVLGISGKPQGLQVAITIS
KESSDCSTEQWPGHPKELRLDFGSAVPLRTRVTRQLILTNRSPIRTRFSLKFEYFGSPQN
SLSKKTSLPNMPPALLKTVRMQEHLAKREQLDFMESMLSHGKGAAFFPHFSQGMLGPYQQ
LCIDITGCANMWGEYWDNLICTVGDLLPEVIPVHMAAVGCPISSLRTTSYTIDQAQKEPA
MRFGTQVSGGDTVTRTLRLNNSSPCDIRLDWETYVPEDKEDRLVELLVFYGPPFPLRDQA
GNELVCPDTPEGGCLLWSPGPSSSSEFSHETDSSVEGSSSASNRVAQKLISVILQAHEGV
PSGHLYCISPKQVVVPAGGSSTIYISFTPMVLSPEILHKVECTGYALGFMSLDSKVEREI
PGKRHRLQDFAVGPLKLDLHSYVRPAQLSVELDYGGSMEFQCQASDLIPEQPCSGVLSEL
VTTHHLKLTNTTEIPHYFRLMVSRPFSVSQDGASQDHRAPGPGQKQECEEETASADKQLV
LQAQENMLVNVSFSLSLELLSYQKLPADQTLPGVDIQQSASGEREMVFTQNLLLEYTNQT
TQVVPLRAVVAVPELQLSTSWVDFGTCFVSQQRVREVYLMNLSGCRSYWTMLMGQQEPAK
AAVAFRVSPNSGLLEARSANAPPTSIALQVFFTARSSELYESTMVVEGVLGEKSCTLRLR
GQGSYDERYMLPHQP
Sequence length 1755
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of esophagus Uncertain significance rs776704507 RCV001333646
Thyroid cancer, nonmedullary, 1 Uncertain significance rs372104796 RCV005937443
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 22037257
Burkitt Lymphoma Inhibit 23050586
Carcinoma Non Small Cell Lung Associate 18594535, 24937636
Carcinoma Ovarian Epithelial Inhibit 16756719
Carcinoma Ovarian Epithelial Associate 30324802
Carcinoma Renal Cell Associate 22430804
Carcinoma Squamous Cell Associate 18594535
Chordoma Associate 23533570
Colorectal Neoplasms Inhibit 19156137
Colorectal Neoplasms Associate 25640947