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    DCBLD1 discoidin, CUB and LCCL domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 285761, updated on 11-Apr-2024

    Summary

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    Official Symbol
    DCBLD1provided by HGNC
    Official Full Name
    discoidin, CUB and LCCL domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:21479
    See related
    Ensembl:ENSG00000164465 AllianceGenome:HGNC:21479
    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
    dJ94G16.1
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in gall bladder (RPKM 5.3), placenta (RPKM 4.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117482674..117569858)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (118666943..118754094)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (117803837..117891021)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RAP1B pseudogene 3 Neighboring gene RNA, U6 small nuclear 253, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25007 Neighboring gene golgi associated PDZ and coiled-coil motif containing Neighboring gene Sharpr-MPRA regulatory region 12404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25009 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:117936764-117937504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25011 Neighboring gene nephrocan, pseudogene Neighboring gene uncharacterized LOC101927919

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. DCBLD1 is associated with the integrin signaling pathway and has prognostic value in non-small cell lung and invasive breast carcinoma. Cardin GB, et al. Sci Rep, 2021 Jun 17. PMID 34140574, Free PMC Article
    2. Positional integration of lung adenocarcinoma susceptibility loci with primary human alveolar epithelial cell epigenomes. Yang C, et al. Epigenomics, 2018 Sep. PMID 30212242, Free PMC Article
    3. SNP rs9387478 at ROS1-DCBLD1 Locus is Significantly Associated with Lung Cancer Risk and Poor Survival in Indian Population. Chongtham J, et al. Asian Pac J Cancer Prev, 2022 Oct 1. PMID 36308382, Free PMC Article
    4. SNP rs17079281 decreases lung cancer risk through creating an YY1-binding site to suppress DCBLD1 expression. Wang Y, et al. Oncogene, 2020 May. PMID 32231272, Free PMC Article
    5. The DCBLD receptor family: emerging signaling roles in development, homeostasis and disease. Schmoker AM, et al. Biochem J, 2019 Mar 22. PMID 30902898

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lactylation stabilizes DCBLD1 activating the pentose phosphate pathway to promote cervical cancer progression.
      Title: Lactylation stabilizes DCBLD1 activating the pentose phosphate pathway to promote cervical cancer progression.
    2. SNP rs9387478 at ROS1-DCBLD1 Locus is Significantly Associated with Lung Cancer Risk and Poor Survival in Indian Population.
      Title: SNP rs9387478 at ROS1-DCBLD1 Locus is Significantly Associated with Lung Cancer Risk and Poor Survival in Indian Population.
    3. DCBLD1 is associated with the integrin signaling pathway and has prognostic value in non-small cell lung and invasive breast carcinoma.
      Title: DCBLD1 is associated with the integrin signaling pathway and has prognostic value in non-small cell lung and invasive breast carcinoma.
    4. FYN and ABL Regulate the Interaction Networks of the DCBLD Receptor Family.
      Title: FYN and ABL Regulate the Interaction Networks of the DCBLD Receptor Family.
    5. SNP rs17079281 decreases lung cancer risk through creating an YY1-binding site to suppress DCBLD1 expression.
      Title: SNP rs17079281 decreases lung cancer risk through creating an YY1-binding site to suppress DCBLD1 expression.
    6. The DCBLD receptor family: emerging signaling roles in development, homeostasis and disease.
      Title: The DCBLD receptor family: emerging signaling roles in development, homeostasis and disease.
    7. Integration of candidate lung adenocarcinoma (LUAD) risk SNPS with epigenomic marks from normal alveolar epithelium identified numerous candidate functional LUAD risk SNPs including rs6942067, which appears to affect DCBLD1 expression.
      Title: Positional integration of lung adenocarcinoma susceptibility loci with primary human alveolar epithelial cell epigenomes.
    8. Dynamic multi-site phosphorylation by Fyn and Abl drives the interaction between CRKL and the novel scaffolding receptors DCBLD1 and DCBLD2.
      Title: Dynamic multi-site phosphorylation by Fyn and Abl drives the interaction between CRKL and the novel scaffolding receptors DCBLD1 and DCBLD2.
    9. Two new signals were observed at genome-wide significance (P < 5 x 10-8), namely, rs7216064 (17q24.3, BPTF), for overall lung adenocarcinoma risk, and rs3817963 (6p21.3, BTNL2) which is specific to cases with EGFR mutations. In further sub-analyses by EGFR status, rs9387478 (ROS1/DCBLD1) and rs2179920 (HLA-DPB1) showed stronger estimated associations in EGFR-positive compared to EGFR-negative cases
      Title: Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.
    EBI GWAS Catalog
    Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of discoidin, CUB and LCCL domain containing 1 (DCBLD1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC46341, DKFZp686L21135

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    discoidin, CUB and LCCL domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001366458.2 → NP_001353387.1  discoidin, CUB and LCCL domain-containing protein 1 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AL132671, Z85999
      Consensus CDS
      CCDS93995.1
      UniProtKB/Swiss-Prot
      Q5H992, Q8IYK5, Q8N7L9, Q8N8Z6, Q96NH2
      Related
      ENSP00000342422.6, ENST00000338728.10
      Conserved Domains (3) summary
      cd00041
      Location:41 → 149
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00057
      Location:260 → 411
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cl02694
      Location:156 → 238
      LCCL; LCCL domain

    2. NM_001366459.2 → NP_001353388.1  discoidin, CUB and LCCL domain-containing protein 1 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AK095973, AL132671, Z85999
      Conserved Domains (3) summary
      cd00041
      Location:41 → 149
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00057
      Location:260 → 411
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cl02694
      Location:156 → 238
      LCCL; LCCL domain

    3. NM_001366460.2 → NP_001353389.1  discoidin, CUB and LCCL domain-containing protein 1 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL132671, Z85999
      Conserved Domains (3) summary
      cd00041
      Location:41 → 149
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00057
      Location:260 → 411
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cl02694
      Location:156 → 238
      LCCL; LCCL domain

    4. NM_173674.3 → NP_775945.1  discoidin, CUB and LCCL domain-containing protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_775945.1

      Status: VALIDATED

      Source sequence(s)
      BC035671, Z85999
      Consensus CDS
      CCDS34522.1
      UniProtKB/Swiss-Prot
      Q8N8Z6
      Related
      ENSP00000296955.8, ENST00000296955.12
      Conserved Domains (4) summary
      smart00231
      Location:254 → 412
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00041
      Location:41 → 149
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00057
      Location:260 → 411
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      pfam03815
      Location:156 → 248
      LCCL; LCCL domain

    RNA

    1. NR_158983.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL132671, Z85999

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      117482674..117569858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418676.1 → XP_047274632.1  discoidin, CUB and LCCL domain-containing protein 1 isoform X4

    2. XM_011535771.2 → XP_011534073.1  discoidin, CUB and LCCL domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011534073.1

      Conserved Domains (4) summary
      smart00231
      Location:202 → 360
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00041
      Location:2 → 97
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00057
      Location:208 → 359
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      pfam03815
      Location:104 → 196
      LCCL; LCCL domain

    3. XM_011535773.3 → XP_011534075.2  discoidin, CUB and LCCL domain-containing protein 1 isoform X2

    4. XM_047418677.1 → XP_047274633.1  discoidin, CUB and LCCL domain-containing protein 1 isoform X5

    5. XM_011535774.3 → XP_011534076.2  discoidin, CUB and LCCL domain-containing protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      118666943..118754094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355235.1 → XP_054211210.1  discoidin, CUB and LCCL domain-containing protein 1 isoform X4

    2. XM_054355232.1 → XP_054211207.1  discoidin, CUB and LCCL domain-containing protein 1 isoform X1

    3. XM_054355233.1 → XP_054211208.1  discoidin, CUB and LCCL domain-containing protein 1 isoform X2

    4. XM_054355236.1 → XP_054211211.1  discoidin, CUB and LCCL domain-containing protein 1 isoform X5

    5. XM_054355234.1 → XP_054211209.1  discoidin, CUB and LCCL domain-containing protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8Z6.2 GenPept UniProtKB/Swiss-Prot:Q8N8Z6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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