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

Gene ID: 285761, updated on 22-Sep-2022

Summary

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
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Genomic context

See DCBLD1 in Genome Data Viewer
Location:
6q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117482674..117569858)
110 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 golgi associated PDZ and coiled-coil motif containing Neighboring gene Sharpr-MPRA regulatory region 12404 Neighboring gene Sharpr-MPRA regulatory region 8561 Neighboring gene nephrocan, pseudogene

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?

Phenotypes

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

mRNA and Protein(s)

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

    Status: VALIDATED

    Source sequence(s)
    AL132671, Z85999
    UniProtKB/Swiss-Prot
    Q96NH2
    Related
    ENSP00000342422.6, ENST00000338728.10
    Conserved Domains (3) summary
    cd00041
    Location:41149
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00057
    Location:260411
    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:156238
    LCCL; LCCL domain
  2. NM_001366459.2NP_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:41149
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00057
    Location:260411
    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:156238
    LCCL; LCCL domain
  3. NM_001366460.2NP_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:41149
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00057
    Location:260411
    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:156238
    LCCL; LCCL domain
  4. NM_173674.3NP_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:254412
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00041
    Location:41149
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00057
    Location:260411
    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:156248
    LCCL; LCCL domain

RNA

  1. NR_158983.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL132671, Z85999

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047418676.1XP_047274632.1  discoidin, CUB and LCCL domain-containing protein 1 isoform X4

  2. XM_011535771.2XP_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:202360
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00041
    Location:297
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00057
    Location:208359
    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:104196
    LCCL; LCCL domain
  3. XM_011535773.3XP_011534075.2  discoidin, CUB and LCCL domain-containing protein 1 isoform X2

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

  5. XM_011535774.3XP_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)