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    COBL cordon-bleu WH2 repeat protein [ Homo sapiens (human) ]

    Gene ID: 23242, updated on 2-Nov-2024

    Summary

    Official Symbol
    COBLprovided by HGNC
    Official Full Name
    cordon-bleu WH2 repeat proteinprovided by HGNC
    Primary source
    HGNC:HGNC:22199
    See related
    Ensembl:ENSG00000106078 MIM:610317; AllianceGenome:HGNC:22199
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]
    Expression
    Broad expression in brain (RPKM 13.9), heart (RPKM 7.3) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See COBL in Genome Data Viewer
    Location:
    7p12.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (51016212..51316809, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (51177453..51478069, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (51083909..51384506, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50920730-50921230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50921231-50921731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50935547-50936047 Neighboring gene ribosomal protein L39 pseudogene 23 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:50954893-50955392 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50966118-50966911 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50966912-50967704 Neighboring gene MPRA-validated peak6518 silencer Neighboring gene small nucleolar RNA SNORA4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51030815-51031330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51077377-51077878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51080078-51080578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51080579-51081079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:51130441-51130946 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:51178901-51179402 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:51198256-51198477 Neighboring gene Sharpr-MPRA regulatory region 13396 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:51235321-51236520 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:51242789-51243404 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:51243405-51244020 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:51244021-51244636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:51255465-51256071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:51256072-51256677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51281381-51281880 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:51292877-51293585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:51292168-51292876 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:51293750-51294949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51296486-51297359 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:51297491-51297624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51301551-51302070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51305304-51305844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51311515-51312015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51330459-51331274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51341867-51342366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51341365-51341866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51342802-51343798 Neighboring gene RPL7L1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51371041-51371540 Neighboring gene uncharacterized LOC124901633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:51384764-51385357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:51385358-51385950 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:51392466-51393665 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:51394443-51395309 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:51395310-51396175 Neighboring gene Sharpr-MPRA regulatory region 3180 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:51427306-51427522 Neighboring gene capicua transcriptional repressor pseudogene 17

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.
    EBI GWAS Catalog
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    EBI GWAS Catalog
    Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0633, MGC131893, DKFZp686G13227

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin monomer binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin monomer binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament network formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament network formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in collateral sprouting in absence of injury ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in digestive tract development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in floor plate development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in liver development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in notochord development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ruffle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somite specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    colocalizes_with actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with actin filament ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in axonal growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axonal growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in dendritic growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in dendritic growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in ruffle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in terminal web IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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.

    Genomic

    1. NG_051816.1 RefSeqGene

      Range
      5053..305650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001287436.3NP_001274365.1  protein cordon-bleu isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      BC111496, BC136441, BC150263, CR936689, DA245843
      Consensus CDS
      CCDS75602.1
      UniProtKB/TrEMBL
      H7C1N2
      Related
      ENSP00000378912.3, ENST00000395542.6
      Conserved Domains (1) summary
      pfam09469
      Location:152230
      Cobl; Cordon-bleu ubiquitin-like domain
    2. NM_001287438.3NP_001274367.1  protein cordon-bleu isoform c

      See identical proteins and their annotated locations for NP_001274367.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      BC094695, BC111496, DA245843
      Consensus CDS
      CCDS75601.1
      UniProtKB/TrEMBL
      A0A0J9YWK3
      Related
      ENSP00000399500.1, ENST00000441453.5
      Conserved Domains (1) summary
      pfam09469
      Location:152230
      Cobl; Cordon-bleu ubiquitin-like domain
    3. NM_001346441.2NP_001333370.1  protein cordon-bleu isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AC004414, AC005535, AC012372, BC045771
      UniProtKB/TrEMBL
      H7C1N2
    4. NM_001346442.2NP_001333371.1  protein cordon-bleu isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (e) is shorter than isoform a.
      Source sequence(s)
      AC004414, AC005535, BC045771, BC144099
      UniProtKB/TrEMBL
      H7C1N2
    5. NM_001346443.2NP_001333372.1  protein cordon-bleu isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (f) is shorter than isoform a.
      Source sequence(s)
      AC004414, AC005535, AC012372, BC045771
      UniProtKB/TrEMBL
      H7C1N2
    6. NM_001346444.2NP_001333373.1  protein cordon-bleu isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (g) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC004414, AC005535, BC111496
      Consensus CDS
      CCDS87505.1
      UniProtKB/Swiss-Prot
      O75128
      Related
      ENSP00000378910.2, ENST00000395540.6
    7. NM_001410881.1NP_001397810.1  protein cordon-bleu isoform h

      Status: REVIEWED

      Source sequence(s)
      AC004414, AC005535, AC012372
      Consensus CDS
      CCDS94104.1
      Related
      ENSP00000413498.2, ENST00000431948.6
    8. NM_015198.5NP_056013.2  protein cordon-bleu isoform b

      See identical proteins and their annotated locations for NP_056013.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AB014533, AC004414, BC045771, BC111496, DA245843
      Consensus CDS
      CCDS34637.1
      UniProtKB/Swiss-Prot
      A4D257, A7E2B0, B7ZLW9, B9EGF8, O75128, Q2T9J3, Q504Y4, Q86XA7, Q8N304, Q8TCM1
      UniProtKB/TrEMBL
      H7C1N2
      Related
      ENSP00000265136.7, ENST00000265136.12
      Conserved Domains (1) summary
      pfam09469
      Location:152230
      Cobl; Cordon-bleu ubiquitin-like domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      51016212..51316809 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271751.1XP_005271808.1  protein cordon-bleu isoform X3

      UniProtKB/TrEMBL
      J3KR05
      Conserved Domains (1) summary
      pfam09469
      Location:152230
      Cobl; Cordon-bleu ubiquitin-like domain
    2. XM_047420080.1XP_047276036.1  protein cordon-bleu isoform X14

    3. XM_011515240.1XP_011513542.1  protein cordon-bleu isoform X13

      UniProtKB/TrEMBL
      H7C1N2
      Related
      ENSP00000401204.1, ENST00000445054.5
      Conserved Domains (1) summary
      pfam09469
      Location:152230
      Cobl; Cordon-bleu ubiquitin-like domain
    4. XM_047420077.1XP_047276033.1  protein cordon-bleu isoform X7

    5. XM_047420079.1XP_047276035.1  protein cordon-bleu isoform X11

    6. XM_047420076.1XP_047276032.1  protein cordon-bleu isoform X6

    7. XM_017011898.1XP_016867387.1  protein cordon-bleu isoform X9

      UniProtKB/TrEMBL
      H7C1N2
    8. XM_047420078.1XP_047276034.1  protein cordon-bleu isoform X8

    9. XM_005271750.1XP_005271807.1  protein cordon-bleu isoform X2

      UniProtKB/TrEMBL
      J3KR05
      Conserved Domains (1) summary
      pfam09469
      Location:152228
      Cobl; Cordon-bleu ubiquitin-like domain
    10. XM_011515239.1XP_011513541.1  protein cordon-bleu isoform X12

      UniProtKB/TrEMBL
      H7C1N2
      Conserved Domains (1) summary
      pfam09469
      Location:152228
      Cobl; Cordon-bleu ubiquitin-like domain
    11. XM_011515237.1XP_011513539.1  protein cordon-bleu isoform X5

      UniProtKB/TrEMBL
      H7C1N2
      Conserved Domains (1) summary
      pfam09469
      Location:152228
      Cobl; Cordon-bleu ubiquitin-like domain
    12. XM_011515238.1XP_011513540.1  protein cordon-bleu isoform X10

      UniProtKB/TrEMBL
      H7C1N2
      Conserved Domains (1) summary
      pfam09469
      Location:152228
      Cobl; Cordon-bleu ubiquitin-like domain
    13. XM_011515236.1XP_011513538.1  protein cordon-bleu isoform X4

      UniProtKB/TrEMBL
      H7C1N2
      Conserved Domains (1) summary
      pfam09469
      Location:152228
      Cobl; Cordon-bleu ubiquitin-like domain
    14. XM_011515234.1XP_011513536.1  protein cordon-bleu isoform X1

      UniProtKB/TrEMBL
      J3KR05
      Conserved Domains (1) summary
      pfam09469
      Location:152228
      Cobl; Cordon-bleu ubiquitin-like domain
    15. XM_011515241.1XP_011513543.1  protein cordon-bleu isoform X15

      UniProtKB/TrEMBL
      J3KR05

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      51177453..51478069 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357679.1XP_054213654.1  protein cordon-bleu isoform X3

    2. XM_054357690.1XP_054213665.1  protein cordon-bleu isoform X14

    3. XM_054357689.1XP_054213664.1  protein cordon-bleu isoform X13

    4. XM_054357683.1XP_054213658.1  protein cordon-bleu isoform X7

    5. XM_054357687.1XP_054213662.1  protein cordon-bleu isoform X11

    6. XM_054357682.1XP_054213657.1  protein cordon-bleu isoform X6

    7. XM_054357685.1XP_054213660.1  protein cordon-bleu isoform X9

    8. XM_054357684.1XP_054213659.1  protein cordon-bleu isoform X8

    9. XM_054357678.1XP_054213653.1  protein cordon-bleu isoform X2

    10. XM_054357688.1XP_054213663.1  protein cordon-bleu isoform X12

    11. XM_054357681.1XP_054213656.1  protein cordon-bleu isoform X5

    12. XM_054357686.1XP_054213661.1  protein cordon-bleu isoform X10

    13. XM_054357680.1XP_054213655.1  protein cordon-bleu isoform X4

    14. XM_054357677.1XP_054213652.1  protein cordon-bleu isoform X1

    15. XM_054357691.1XP_054213666.1  protein cordon-bleu isoform X15