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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.
Title: COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.
Data show that six patients had large interstitial deletions starting within intronic regions of COBL at diagnosis, which is ~611 Kb downstream of IKZF1, suggesting that COBL is a hotspot for IKZF1 deletion (DeltaIKZF1).
Title: COBL is a novel hotspot for IKZF1 deletions in childhood acute lymphoblastic leukemia.
Two single-nucleotide polymorphisms at novel loci, rs112404845 (P = 3.8 x 10-8), upstream of COBL, and rs16961023 (P = 4.6 x 10-8), downstream of SLC10A2, obtained genome-wide significant evidence of association with the posterior liability of late-onset Alzheimer's disease in African Americans.
Title: Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.
Ca2+/Calmodulin modulates Cobl's actin binding properties and furthermore promotes Cobl's previously identified interactions with the membrane-shaping F-BAR protein syndapin I, which accumulated with Cobl at nascent dendritic protrusion sites.
Title: The Actin Nucleator Cobl Is Controlled by Calcium and Calmodulin.
Filament severing displayed the greatest stringency and was abolished in all mutated forms of Cobl-KAB.
Title: Mutagenetic and electron microscopy analysis of actin filament severing by Cordon-Bleu, a WH2 domain protein.
Cordon-Bleu works as a dynamizer of actin assembly by combining many properties of profilin with weak filament nucleating and powerful filament severing activities and sequestration of ADP-actin, which generate oscillatory polymerization kinetics.
Title: Cordon-Bleu uses WH2 domains as multifunctional dynamizers of actin filament assembly.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-150799 (e-PCR)
- UniSTS:178180

COBL (e-PCR)
- UniSTS:503570

D7S1430 (e-PCR)
- UniSTS:32566

GDB:1317222 (e-PCR)
- UniSTS:57168

D7S2422 (e-PCR), detects polymorphism
- UniSTS:57491

RH92383 (e-PCR)
- UniSTS:88989

D7S724 (e-PCR)
- UniSTS:54950

RH69755 (e-PCR)
- UniSTS:66229

RH66457 (e-PCR)
- UniSTS:81629

D7S2422 (e-PCR), detects polymorphism
- UniSTS:49902

SHGC-35886 (e-PCR)
- UniSTS:81662

D7S1970 (e-PCR)
- UniSTS:4095

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

General protein information

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Preferred Names: protein cordon-bleu

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.

Genomic

NG_051816.1 RefSeqGene

Range

5053..305650

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001287436.3 → NP_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:152 → 230

Cobl; Cordon-bleu ubiquitin-like domain
NM_001287438.3 → NP_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:152 → 230

Cobl; Cordon-bleu ubiquitin-like domain
NM_001346441.2 → NP_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
NM_001346442.2 → NP_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
NM_001346443.2 → NP_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
NM_001346444.2 → NP_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
NM_001410881.1 → NP_001397810.1 protein cordon-bleu isoform h

Status: REVIEWED

Source sequence(s)

AC004414, AC005535, AC012372

Consensus CDS

CCDS94104.1

Related

ENSP00000413498.2, ENST00000431948.6
NM_015198.5 → NP_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:152 → 230

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

51016212..51316809 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

J3KR05

Conserved Domains (1) summary

pfam09469
Location:152 → 230

Cobl; Cordon-bleu ubiquitin-like domain
XM_047420080.1 → XP_047276036.1 protein cordon-bleu isoform X14
XM_011515240.1 → XP_011513542.1 protein cordon-bleu isoform X13

UniProtKB/TrEMBL

H7C1N2

Related

ENSP00000401204.1, ENST00000445054.5

Conserved Domains (1) summary

pfam09469
Location:152 → 230

Cobl; Cordon-bleu ubiquitin-like domain
XM_047420077.1 → XP_047276033.1 protein cordon-bleu isoform X7
XM_047420079.1 → XP_047276035.1 protein cordon-bleu isoform X11
XM_047420076.1 → XP_047276032.1 protein cordon-bleu isoform X6
XM_017011898.1 → XP_016867387.1 protein cordon-bleu isoform X9

UniProtKB/TrEMBL

H7C1N2
XM_047420078.1 → XP_047276034.1 protein cordon-bleu isoform X8
XM_005271750.1 → XP_005271807.1 protein cordon-bleu isoform X2

UniProtKB/TrEMBL

J3KR05

Conserved Domains (1) summary

pfam09469
Location:152 → 228

Cobl; Cordon-bleu ubiquitin-like domain
XM_011515239.1 → XP_011513541.1 protein cordon-bleu isoform X12

UniProtKB/TrEMBL

H7C1N2

Conserved Domains (1) summary

pfam09469
Location:152 → 228

Cobl; Cordon-bleu ubiquitin-like domain
XM_011515237.1 → XP_011513539.1 protein cordon-bleu isoform X5

UniProtKB/TrEMBL

H7C1N2

Conserved Domains (1) summary

pfam09469
Location:152 → 228

Cobl; Cordon-bleu ubiquitin-like domain
XM_011515238.1 → XP_011513540.1 protein cordon-bleu isoform X10

UniProtKB/TrEMBL

H7C1N2

Conserved Domains (1) summary

pfam09469
Location:152 → 228

Cobl; Cordon-bleu ubiquitin-like domain
XM_011515236.1 → XP_011513538.1 protein cordon-bleu isoform X4

UniProtKB/TrEMBL

H7C1N2

Conserved Domains (1) summary

pfam09469
Location:152 → 228

Cobl; Cordon-bleu ubiquitin-like domain
XM_011515234.1 → XP_011513536.1 protein cordon-bleu isoform X1

UniProtKB/TrEMBL

J3KR05

Conserved Domains (1) summary

pfam09469
Location:152 → 228

Cobl; Cordon-bleu ubiquitin-like domain
XM_011515241.1 → XP_011513543.1 protein cordon-bleu isoform X15

UniProtKB/TrEMBL

J3KR05