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

Gene ID: 23242, updated on 12-Aug-2018

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; Vega:OTTHUMG00000155999
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

Genomic context

See COBL in Genome Data Viewer
Location:
7p12.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (51016212..51316861, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (51083909..51384515, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene growth factor receptor bound protein 10 Neighboring gene ribosomal protein L39 pseudogene 23 Neighboring gene ribosomal protein L7 like 1 pseudogene 2 Neighboring gene putative uncharacterized protein FLJ44672 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0633, MGC131893, DKFZp686G13227

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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
    5001..305650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001287436.2NP_001274365.1  protein cordon-bleu isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC005535, BC111496, BC136441, BC150263, CR936689, DA245843
    Consensus CDS
    CCDS75602.1
    UniProtKB/Swiss-Prot
    O75128
    Related
    ENSP00000378912.3, ENST00000395542.6
    Conserved Domains (1) summary
    pfam09469
    Location:152230
    Cobl; Cordon-bleu ubiquitin-like domain
  2. NM_001287438.2NP_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)
    AC005535, BC094695, BC111496, DA245843
    Consensus CDS
    CCDS75601.1
    UniProtKB/Swiss-Prot
    O75128
    Related
    ENSP00000399500.1, OTTHUMP00000209052, ENST00000441453.5, OTTHUMT00000342686
    Conserved Domains (1) summary
    pfam09469
    Location:152230
    Cobl; Cordon-bleu ubiquitin-like domain
  3. NM_001346441.1NP_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/Swiss-Prot
    O75128
  4. NM_001346442.1NP_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/Swiss-Prot
    O75128
  5. NM_001346443.1NP_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/Swiss-Prot
    O75128
  6. NM_001346444.1NP_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_015198.4NP_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, AC005535, BC045771, BC111496, DA245843
    Consensus CDS
    CCDS34637.1
    UniProtKB/Swiss-Prot
    O75128
    Related
    ENSP00000265136.7, OTTHUMP00000209048, ENST00000265136.11, OTTHUMT00000342682
    Conserved Domains (1) summary
    pfam09469
    Location:152230
    Cobl; Cordon-bleu ubiquitin-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    51016212..51316861 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271751.1XP_005271808.1  protein cordon-bleu isoform X4

    Conserved Domains (1) summary
    pfam09469
    Location:152230
    Cobl; Cordon-bleu ubiquitin-like domain
  2. XM_011515240.1XP_011513542.1  protein cordon-bleu isoform X10

    Related
    ENSP00000401204.1, OTTHUMP00000209049, ENST00000445054.5, OTTHUMT00000342683
    Conserved Domains (1) summary
    pfam09469
    Location:152230
    Cobl; Cordon-bleu ubiquitin-like domain
  3. XM_011515235.1XP_011513537.1  protein cordon-bleu isoform X2

    UniProtKB/Swiss-Prot
    O75128
    Conserved Domains (1) summary
    pfam09469
    Location:152230
    Cobl; Cordon-bleu ubiquitin-like domain
  4. XM_017011898.1XP_016867387.1  protein cordon-bleu isoform X7

  5. XM_005271750.1XP_005271807.1  protein cordon-bleu isoform X3

    Conserved Domains (1) summary
    pfam09469
    Location:152228
    Cobl; Cordon-bleu ubiquitin-like domain
  6. XM_011515239.1XP_011513541.1  protein cordon-bleu isoform X9

    Conserved Domains (1) summary
    pfam09469
    Location:152228
    Cobl; Cordon-bleu ubiquitin-like domain
  7. XM_011515237.1XP_011513539.1  protein cordon-bleu isoform X6

    Conserved Domains (1) summary
    pfam09469
    Location:152228
    Cobl; Cordon-bleu ubiquitin-like domain
  8. XM_011515238.1XP_011513540.1  protein cordon-bleu isoform X8

    Conserved Domains (1) summary
    pfam09469
    Location:152228
    Cobl; Cordon-bleu ubiquitin-like domain
  9. XM_011515236.1XP_011513538.1  protein cordon-bleu isoform X5

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

    Conserved Domains (1) summary
    pfam09469
    Location:152228
    Cobl; Cordon-bleu ubiquitin-like domain
  11. XM_011515241.1XP_011513543.1  protein cordon-bleu isoform X11

    Related
    ENSP00000413498.1, OTTHUMP00000209050, ENST00000431948.5, OTTHUMT00000342684
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