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

Gene ID: 22837, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in kidney (RPKM 18.9), adrenal (RPKM 17.7) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
2q24.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (164657931..164842076, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (165115257..165299434, complement)
105.20220307 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
  • 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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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 
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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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_2023_10

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

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