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DTL denticleless E3 ubiquitin protein ligase homolog [ Homo sapiens (human) ]

Gene ID: 51514, updated on 30-Sep-2018

Summary

Official Symbol
DTLprovided by HGNC
Official Full Name
denticleless E3 ubiquitin protein ligase homologprovided by HGNC
Primary source
HGNC:HGNC:30288
See related
Ensembl:ENSG00000143476 MIM:610617; Vega:OTTHUMG00000037133
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDT2; RAMP; DCAF2; L2DTL
Expression
Broad expression in testis (RPKM 9.8), bone marrow (RPKM 8.4) and 15 other tissues See more
Orthologs

Genomic context

See DTL in Genome Data Viewer
Location:
1q32.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (212035553..212105006)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (212208919..212278187)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene lysophosphatidylglycerol acyltransferase 1 Neighboring gene RNA, 7SL, cytoplasmic 344, pseudogene Neighboring gene LPGAT1 antisense RNA 1 Neighboring gene integrator complex subunit 7 Neighboring gene ribosomal protein L21 pseudogene 28 Neighboring gene microRNA 3122 Neighboring gene RNA, 7SK small nuclear pseudogene 98 Neighboring gene long intergenic non-protein coding RNA 2608 Neighboring gene protein phosphatase 2 regulatory subunit B'alpha Neighboring gene ribosomal protein L23a pseudogene 18

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

Pathways from BioSystems

  • DNA Damage Bypass, organism-specific biosystem (from REACTOME)
    DNA Damage Bypass, organism-specific biosystemIn addition to various processes for removing lesions from the DNA, cells have developed specific mechanisms for tolerating unrepaired damage during the replication of the genome. These mechanisms ar...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Recognition of DNA damage by PCNA-containing replication complex, organism-specific biosystem (from REACTOME)
    Recognition of DNA damage by PCNA-containing replication complex, organism-specific biosystemDamaged double strand DNA (dsDNA) cannot be successfully used as a template by replicative DNA polymerase delta (POLD) and epsilon (POLE) complexes (Hoege et al. 2002). When the replication complex c...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Cul4-RING E3 ubiquitin ligase complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
Cul4A-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
Cul4B-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
denticleless protein homolog
Names
DDB1- and CUL4-associated factor 2
RA-regulated nuclear matrix-associated protein
lethal(2) denticleless protein homolog
retinoic acid-regulated nuclear matrix-associated protein

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001286229.1NP_001273158.1  denticleless protein homolog isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the coding region compared to variant 1. These differences result in the use of a alternate AUG, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared isoform 1.
    Source sequence(s)
    AC092814, AI800751, AK027651, AL606468, DB070033
    UniProtKB/Swiss-Prot
    Q9NZJ0
    Conserved Domains (3) summary
    COG2319
    Location:4127
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:5085
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:4118
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_001286230.1NP_001273159.1  denticleless protein homolog isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC092814, AI800751, AK303346, AL606468
    Consensus CDS
    CCDS65778.1
    UniProtKB/TrEMBL
    B4E0E6
    Related
    ENSP00000443870.1, ENST00000542077.5
    Conserved Domains (3) summary
    COG2319
    Location:22368
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:23347
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5995
    7WD40; WD40 repeat [structural motif]
  3. NM_016448.3NP_057532.3  denticleless protein homolog isoform 1

    See identical proteins and their annotated locations for NP_057532.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI800751, AL606468, BC033540, DB070033
    Consensus CDS
    CCDS1502.1
    UniProtKB/Swiss-Prot
    Q9NZJ0
    Related
    ENSP00000355958.4, OTTHUMP00000035221, ENST00000366991.4, OTTHUMT00000090182
    Conserved Domains (2) summary
    cd00200
    Location:55389
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5596
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    212035553..212105006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509614.1XP_011507916.1  denticleless protein homolog isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:2352
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:3327
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:3975
    7WD40; WD40 repeat [structural motif]
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