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    COBLL1 cordon-bleu WH2 repeat protein like 1 [ Homo sapiens (human) ]

    Gene ID: 22837, updated on 28-Oct-2024

    Summary

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    Official Symbol
    COBLL1provided by HGNC
    Official Full Name
    cordon-bleu WH2 repeat protein like 1provided by HGNC
    Primary source
    HGNC:HGNC:23571
    See related
    Ensembl:ENSG00000082438 MIM:610318; AllianceGenome:HGNC:23571
    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
    COBLR1
    Summary
    Enables cadherin binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in kidney (RPKM 18.9), adrenal (RPKM 17.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COBLL1 in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (164657931..164842076, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (165115257..165299434, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (165514441..165698586, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 2 subfamily C member 56, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:165227718-165228219 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:165315134-165316001 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:165316002-165316868 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:165370742-165371941 Neighboring gene growth factor receptor bound protein 14 Neighboring gene EIF3E pseudogene 3 Neighboring gene HNF1 motif-containing MPRA enhancer 131/132 Neighboring gene small nucleolar RNA, H/ACA box 70F Neighboring gene uncharacterized LOC124906197 Neighboring gene uncharacterized LOC101929633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12065 Neighboring gene RNA, 5S ribosomal pseudogene 110 Neighboring gene RNA, 5S ribosomal pseudogene 111 Neighboring gene solute carrier family 38 member 11

    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 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. A non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes. Glunk V, et al. Nat Metab, 2023 May. PMID 37253881
    2. Gene-Nutrient Interactions in Obesity: COBLL1 Genetic Variants Interact with Dietary Fat Intake to Modulate the Incidence of Obesity. Kwak J, et al. Int J Mol Sci, 2023 Feb 13. PMID 36835164, Free PMC Article
    3. The COBLL1 C allele is associated with lower serum insulin levels and lower insulin resistance in overweight and obese children. Mancina RM, et al. Diabetes Metab Res Rev, 2013 Jul. PMID 23463496, Free PMC Article
    4. Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project. Kan M, et al. Eur J Hum Genet, 2016 Aug. PMID 26757982, Free PMC Article
    5. Expression of COBLL1 encoding novel ROR1 binding partner is robust predictor of survival in chronic lymphocytic leukemia. Plešingerová H, et al. Haematologica, 2018 Feb. PMID 29122990, Free PMC Article

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes.
      Title: A non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes.
    2. Gene-Nutrient Interactions in Obesity: COBLL1 Genetic Variants Interact with Dietary Fat Intake to Modulate the Incidence of Obesity.
      Title: Gene-Nutrient Interactions in Obesity: COBLL1 Genetic Variants Interact with Dietary Fat Intake to Modulate the Incidence of Obesity.
    3. Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
      Title: Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
    4. Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.
      Title: Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.
    5. Metabolic Effects of the Waist-To-Hip Ratio Associated Locus GRB14/COBLL1 Are Related to GRB14 Expression in Adipose Tissue.
      Title: Metabolic Effects of the Waist-To-Hip Ratio Associated Locus GRB14/COBLL1 Are Related to GRB14 Expression in Adipose Tissue.
    6. identified COBLL1 as a novel interaction partner of ROR1
      Title: Expression of COBLL1 encoding novel ROR1 binding partner is robust predictor of survival in chronic lymphocytic leukemia.
    7. nuclear COBLL1 interacts with AR to enhance complex formation with CDK1 and facilitates AR phosphorylation for genomic binding in castration-resistant prostate cancer model cells.
      Title: COBLL1 modulates cell morphology and facilitates androgen receptor genomic binding in advanced prostate cancer.
    8. The expression of COBLL1, LPL, and ZAP70 corresponded to patient prognosis and to IGHV mutational status, although not absolutely. When we combined all three markers together and performed the ROC analysis, AUC increased compared to the AUC of individual gene expression.
      Title: COBLL1, LPL and ZAP70 expression defines prognostic subgroups of chronic lymphocytic leukemia patients with high accuracy and correlates with IGHV mutational status.
    9. High-level expression of Cobll1 promotes the transformation of CML and generates drug resistance by increasing IKKgamma stability, which results in activation of the canonical NF-kappaB pathway.
      Title: Cobll1 is linked to drug resistance and blastic transformation in chronic myeloid leukemia.
    10. Aggregation of rare variants in COBLL1were nominally associated with higher waist-to-hip ratio in European-Americans.
      Title: Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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 approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0977

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin monomer binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    cordon-bleu protein-like 1
    Names
    COBL-like 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_001278458.2 → NP_001265387.1  cordon-bleu protein-like 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB023194, AC019181, AI261693, AK294937
      Consensus CDS
      CCDS63046.1
      UniProtKB/TrEMBL
      A0A0D9SG04, B7Z2P5
      Related
      ENSP00000487041.2, ENST00000629362.2
      Conserved Domains (2) summary
      pfam09469
      Location:197 → 275
      Cobl; Cordon-bleu ubiquitin-like domain
      cl00155
      Location:113 → 182
      UBQ; Ubiquitin-like proteins

    2. NM_001278460.2 → NP_001265389.1  cordon-bleu protein-like 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB023194, AC019181, AI261693, AK225849, AK294937
      Consensus CDS
      CCDS92884.1
      UniProtKB/TrEMBL
      A0A0X1KG75, B7Z2P5
      Related
      ENSP00000387326.5, ENST00000409184.8
      Conserved Domains (2) summary
      pfam09469
      Location:190 → 268
      Cobl; Cordon-bleu ubiquitin-like domain
      cl00155
      Location:106 → 175
      UBQ; Ubiquitin-like proteins

    3. NM_001278461.2 → NP_001265390.1  cordon-bleu protein-like 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and lacks two alternate internal segments compared to variant 1.
      Source sequence(s)
      AB023194, AC019181, AI261693, BC071588
      Consensus CDS
      CCDS63045.1
      UniProtKB/Swiss-Prot
      A6NMZ3, Q53SF7, Q6IQ33, Q7Z3I6, Q9BRH4, Q9UG88, Q9Y2I3
      UniProtKB/TrEMBL
      B7Z2P5
      Related
      ENSP00000364607.2, ENST00000375458.6
      Conserved Domains (2) summary
      PHA03247
      Location:789 → 1026
      PHA03247; large tegument protein UL36; Provisional
      pfam09469
      Location:144 → 222
      Cobl; Cordon-bleu ubiquitin-like domain

    4. NM_001365670.2 → NP_001352599.1  cordon-bleu protein-like 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC019181
      UniProtKB/TrEMBL
      B7Z2P5
      Conserved Domains (2) summary
      pfam09469
      Location:190 → 268
      Cobl; Cordon-bleu ubiquitin-like domain
      cl26464
      Location:834 → 1071
      Atrophin-1; Atrophin-1 family

    5. NM_001365671.1 → NP_001352600.1  cordon-bleu protein-like 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC019181, AC107075
      UniProtKB/TrEMBL
      B7Z2P5
      Conserved Domains (2) summary
      pfam09469
      Location:190 → 268
      Cobl; Cordon-bleu ubiquitin-like domain
      cl26464
      Location:848 → 1085
      Atrophin-1; Atrophin-1 family

    6. NM_001365672.2 → NP_001352601.1  cordon-bleu protein-like 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC019181
      Consensus CDS
      CCDS63045.1
      UniProtKB/Swiss-Prot
      A6NMZ3, Q53SF7, Q6IQ33, Q7Z3I6, Q9BRH4, Q9UG88, Q9Y2I3
      UniProtKB/TrEMBL
      B7Z2P5
      Related
      ENSP00000498242.1, ENST00000652658.2
      Conserved Domains (2) summary
      PHA03247
      Location:789 → 1026
      PHA03247; large tegument protein UL36; Provisional
      pfam09469
      Location:144 → 222
      Cobl; Cordon-bleu ubiquitin-like domain

    7. NM_001365673.2 → NP_001352602.1  cordon-bleu protein-like 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC019181
      Consensus CDS
      CCDS63045.1
      UniProtKB/Swiss-Prot
      A6NMZ3, Q53SF7, Q6IQ33, Q7Z3I6, Q9BRH4, Q9UG88, Q9Y2I3
      UniProtKB/TrEMBL
      B7Z2P5
      Conserved Domains (2) summary
      PHA03247
      Location:789 → 1026
      PHA03247; large tegument protein UL36; Provisional
      pfam09469
      Location:144 → 222
      Cobl; Cordon-bleu ubiquitin-like domain

    8. NM_001365674.2 → NP_001352603.1  cordon-bleu protein-like 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC019181
      UniProtKB/TrEMBL
      B7Z2P5
      Conserved Domains (2) summary
      pfam09469
      Location:144 → 222
      Cobl; Cordon-bleu ubiquitin-like domain
      cl26464
      Location:802 → 1039
      Atrophin-1; Atrophin-1 family

    9. NM_001365675.2 → NP_001352604.1  cordon-bleu protein-like 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC019181
      UniProtKB/TrEMBL
      B7Z2P5
      Conserved Domains (2) summary
      pfam09469
      Location:144 → 222
      Cobl; Cordon-bleu ubiquitin-like domain
      cl26464
      Location:802 → 1039
      Atrophin-1; Atrophin-1 family

    10. NM_014900.5 → NP_055715.3  cordon-bleu protein-like 1 isoform 2

      See identical proteins and their annotated locations for NP_055715.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and lacks two alternate internal segments compared to isoform 1.
      Source sequence(s)
      AB023194, AC019181, AI261693, BC071588
      Consensus CDS
      CCDS2223.2
      UniProtKB/TrEMBL
      B7Z2P5
      Related
      ENSP00000341360.4, ENST00000342193.8
      Conserved Domains (2) summary
      pfam09469
      Location:144 → 222
      Cobl; Cordon-bleu ubiquitin-like domain
      cl00155
      Location:60 → 129
      UBQ; Ubiquitin-like proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      164657931..164842076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      165115257..165299434 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53SF7.3 GenPept UniProtKB/Swiss-Prot:Q53SF7

    Gene LinkOut

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

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