U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 9940, updated on 23-Nov-2023

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; AllianceGenome:HGNC:2899
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See DLEC1 in Genome Data Viewer
Location:
3p22.2
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (38039208..38124025)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (38043402..38129694)
105.20220307 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 12639 Neighboring gene Sharpr-MPRA regulatory region 7921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38035775-38036392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38039104-38039674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38047479-38047979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38050723-38051473 Neighboring gene villin like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14204 Neighboring gene phospholipase C delta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19676 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38094034-38094878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19678 Neighboring gene protein phosphatase 2 regulatory subunit Bdelta pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:38124731-38125295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38139347-38139846 Neighboring gene uncharacterized LOC105377033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38152870-38153688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38158759-38159717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38179733-38180676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19681 Neighboring gene acetyl-CoA acyltransferase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38196601-38197102 Neighboring gene uncharacterized LOC101928234 Neighboring gene MYD88 innate immune signal transduction adaptor Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:38205703-38206902 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

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 
enables tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
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)

NEW Try the new Transcript table

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/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
    Q9NSW0, Q9NTG5, Q9Y238
    UniProtKB/TrEMBL
    B7ZW06
    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/TrEMBL
    B7ZW06
    Related
    ENSP00000315914.5, ENST00000346219.7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    38039208..38124025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534317.3XP_011532619.1  deleted in lung and esophageal cancer protein 1 isoform X1

    UniProtKB/TrEMBL
    B1B5Y4
  2. XM_006713438.4XP_006713501.1  deleted in lung and esophageal cancer protein 1 isoform X2

    UniProtKB/TrEMBL
    B1B5Y4
  3. XM_011534318.3XP_011532620.1  deleted in lung and esophageal cancer protein 1 isoform X3

    UniProtKB/TrEMBL
    B1B5Y4
  4. XM_006713439.4XP_006713502.1  deleted in lung and esophageal cancer protein 1 isoform X4

    UniProtKB/TrEMBL
    B1B5Y4
  5. XM_006713440.4XP_006713503.1  deleted in lung and esophageal cancer protein 1 isoform X5

    UniProtKB/TrEMBL
    B1B5Y4
  6. XM_047449369.1XP_047305325.1  deleted in lung and esophageal cancer protein 1 isoform X6

  7. XM_047449370.1XP_047305326.1  deleted in lung and esophageal cancer protein 1 isoform X7

RNA

  1. XR_940527.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    38043402..38129694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348647.1XP_054204622.1  deleted in lung and esophageal cancer protein 1 isoform X1

    UniProtKB/TrEMBL
    B1B5Y4
  2. XM_054348648.1XP_054204623.1  deleted in lung and esophageal cancer protein 1 isoform X2

    UniProtKB/TrEMBL
    B1B5Y4
  3. XM_054348649.1XP_054204624.1  deleted in lung and esophageal cancer protein 1 isoform X3

    UniProtKB/TrEMBL
    B1B5Y4
  4. XM_054348650.1XP_054204625.1  deleted in lung and esophageal cancer protein 1 isoform X4

    UniProtKB/TrEMBL
    B1B5Y4
  5. XM_054348651.1XP_054204626.1  deleted in lung and esophageal cancer protein 1 isoform X5

    UniProtKB/TrEMBL
    B1B5Y4
  6. XM_054348652.1XP_054204627.1  deleted in lung and esophageal cancer protein 1 isoform X6

  7. XM_054348653.1XP_054204628.1  deleted in lung and esophageal cancer protein 1 isoform X7

RNA

  1. XR_008486873.1 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.