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DLEC1 DLEC1 cilia and flagella associated protein [ Homo sapiens (human) ]

Gene ID: 9940, updated on 8-Jul-2021

Summary

Official Symbol
DLEC1provided by HGNC
Official Full Name
DLEC1 cilia and flagella associated proteinprovided by HGNC
Primary source
HGNC:HGNC:2899
See related
Ensembl:ENSG00000008226 MIM:604050
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
F56; DLC1; DLC-1; FAP81; CFAP81
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 head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016]
Expression
Biased expression in testis (RPKM 8.8), lung (RPKM 3.8) and 2 other tissues See more
Orthologs
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Genomic context

See DLEC1 in Genome Data Viewer
Location:
3p22.2
Exon count:
38
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (38038595..38124025)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38080699..38165516)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7921 Neighboring gene villin like Neighboring gene phospholipase C delta 1 Neighboring gene protein phosphatase 2 regulatory subunit Bdelta pseudogene 1 Neighboring gene uncharacterized LOC105377033 Neighboring gene acetyl-CoA acyltransferase 1 Neighboring gene uncharacterized LOC101928234 Neighboring gene MYD88 innate immune signal transduction adaptor Neighboring gene oxidative stress responsive kinase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables beta-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in defense response to tumor cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
deleted in lung and esophageal cancer protein 1
Names
DLEC, cilia and flagella associated protein
cilia and flagella associated protein 81
deleted in lung and esophageal cancer 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023237.1 RefSeqGene

    Range
    5004..89821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321153.2NP_001308082.1  deleted in lung and esophageal cancer protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB020522, AB425198, AP006309, CB243860
    UniProtKB/Swiss-Prot
    Q9Y238
    UniProtKB/TrEMBL
    B1B5Y4
  2. NM_007335.4NP_031361.2  deleted in lung and esophageal cancer protein 1 isoform DLEC1-N1

    See identical proteins and their annotated locations for NP_031361.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (DLEC1-N1) encodes the shortest isoform.
    Source sequence(s)
    AB020522, AL137706, AP006309, CB243860
    Consensus CDS
    CCDS2672.2
    UniProtKB/Swiss-Prot
    Q9Y238
    Related
    ENSP00000308597.6, ENST00000308059.11
  3. NM_007337.4NP_031363.2  deleted in lung and esophageal cancer protein 1 isoform DLEC1-S3

    See identical proteins and their annotated locations for NP_031363.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (DLEC1-S3) lacks an exon in the 3' coding region that results in a frameshift and use of a downstream stop codon, compared to variant DLEC1-N1. The encoded isoform (DLEC1-S3) has a longer, distinct C-terminus compared to the DLEC1-N1 isoform. There are currently no publicly available full-length transcripts supporting this variant, but it is supported by data in PMID:10213508.
    Source sequence(s)
    AB020522, AL137706, AP006309, CB243860
    UniProtKB/Swiss-Prot
    Q9Y238
    Related
    ENSP00000315914.5, ENST00000346219.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    38038595..38124025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713438.3XP_006713501.1  deleted in lung and esophageal cancer protein 1 isoform X2

  2. XM_011534318.2XP_011532620.1  deleted in lung and esophageal cancer protein 1 isoform X3

  3. XM_006713440.3XP_006713503.1  deleted in lung and esophageal cancer protein 1 isoform X5

  4. XM_011534317.2XP_011532619.1  deleted in lung and esophageal cancer protein 1 isoform X1

  5. XM_006713439.3XP_006713502.1  deleted in lung and esophageal cancer protein 1 isoform X4

RNA

  1. XR_940527.2 RNA Sequence

  2. XR_427302.3 RNA Sequence

  3. XR_427301.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_007336.1: Suppressed sequence

    Description
    NM_007336.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_007338.2: Suppressed sequence

    Description
    NM_007338.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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