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

Gene ID: 23242, updated on 23-Nov-2023

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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Genomic context

See COBL in Genome Data Viewer
Location:
7p12.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (51016212..51316809, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (51177453..51478069, complement)
105.20220307 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
  • 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
    UniProtKB/TrEMBL
    J3KR05
    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_2023_10

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

    UniProtKB/TrEMBL
    H7C1N2
  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

    UniProtKB/TrEMBL
    H7C1N2
  5. XM_047420079.1XP_047276035.1  protein cordon-bleu isoform X11

    UniProtKB/TrEMBL
    H7C1N2
  6. XM_047420076.1XP_047276032.1  protein cordon-bleu isoform X6

    UniProtKB/TrEMBL
    H7C1N2
  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

    UniProtKB/TrEMBL
    H7C1N2
  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

    UniProtKB/TrEMBL
    J3KR05
  2. XM_054357690.1XP_054213665.1  protein cordon-bleu isoform X14

    UniProtKB/TrEMBL
    H7C1N2
  3. XM_054357689.1XP_054213664.1  protein cordon-bleu isoform X13

    UniProtKB/TrEMBL
    H7C1N2
  4. XM_054357683.1XP_054213658.1  protein cordon-bleu isoform X7

    UniProtKB/TrEMBL
    H7C1N2
  5. XM_054357687.1XP_054213662.1  protein cordon-bleu isoform X11

    UniProtKB/TrEMBL
    H7C1N2
  6. XM_054357682.1XP_054213657.1  protein cordon-bleu isoform X6

    UniProtKB/TrEMBL
    H7C1N2
  7. XM_054357685.1XP_054213660.1  protein cordon-bleu isoform X9

    UniProtKB/TrEMBL
    H7C1N2
  8. XM_054357684.1XP_054213659.1  protein cordon-bleu isoform X8

    UniProtKB/TrEMBL
    H7C1N2
  9. XM_054357678.1XP_054213653.1  protein cordon-bleu isoform X2

    UniProtKB/TrEMBL
    J3KR05
  10. XM_054357688.1XP_054213663.1  protein cordon-bleu isoform X12

    UniProtKB/TrEMBL
    H7C1N2
  11. XM_054357681.1XP_054213656.1  protein cordon-bleu isoform X5

    UniProtKB/TrEMBL
    H7C1N2
  12. XM_054357686.1XP_054213661.1  protein cordon-bleu isoform X10

    UniProtKB/TrEMBL
    H7C1N2
  13. XM_054357680.1XP_054213655.1  protein cordon-bleu isoform X4

    UniProtKB/TrEMBL
    H7C1N2
  14. XM_054357677.1XP_054213652.1  protein cordon-bleu isoform X1

    UniProtKB/TrEMBL
    J3KR05
  15. XM_054357691.1XP_054213666.1  protein cordon-bleu isoform X15

    UniProtKB/TrEMBL
    J3KR05