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

Gene ID: 22837, updated on 5-Dec-2018

Summary

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
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
Expression
Broad expression in kidney (RPKM 18.9), adrenal (RPKM 17.7) and 23 other tissues See more
Orthologs

Genomic context

See COBLL1 in Genome Data Viewer
Location:
2q24.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (164680185..164842168, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (165536695..165698678, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 2 subfamily C member 56, pseudogene Neighboring gene growth factor receptor bound protein 14 Neighboring gene eukaryotic translation initiation factor 3 subunit E pseudogene 3 Neighboring gene HNF1 motif-containing MPRA enhancer 131/132 Neighboring gene small nucleolar RNA, H/ACA box 70F Neighboring gene uncharacterized LOC101929633 Neighboring gene RNA, 5S ribosomal pseudogene 110 Neighboring gene RNA, 5S ribosomal pseudogene 111

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0977

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin monomer binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 

General protein information

Preferred Names
cordon-bleu protein-like 1
Names
COBL-like 1

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.

mRNA and Protein(s)

  1. NM_001278458.1NP_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/Swiss-Prot
    Q53SF7
    UniProtKB/TrEMBL
    A0A0D9SG04, B7Z2P5
    Related
    ENSP00000487041.2, ENST00000629362.2
    Conserved Domains (2) summary
    pfam09469
    Location:197275
    Cobl; Cordon-bleu ubiquitin-like domain
    cl00155
    Location:113182
    UBQ; Ubiquitin-like proteins
  2. NM_001278460.1NP_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
    UniProtKB/Swiss-Prot
    Q53SF7
    UniProtKB/TrEMBL
    B7Z2P5
    Related
    ENSP00000387326.4, ENST00000409184.7
    Conserved Domains (2) summary
    pfam09469
    Location:190268
    Cobl; Cordon-bleu ubiquitin-like domain
    cl00155
    Location:106175
    UBQ; Ubiquitin-like proteins
  3. NM_001278461.1NP_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
    Q53SF7
    Related
    ENSP00000364607.2, ENST00000375458.6
    Conserved Domains (2) summary
    pfam09469
    Location:144222
    Cobl; Cordon-bleu ubiquitin-like domain
    cl26464
    Location:7891026
    Atrophin-1; Atrophin-1 family
  4. NM_001365670.1NP_001352599.1  cordon-bleu protein-like 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC019181
    Conserved Domains (2) summary
    pfam09469
    Location:190268
    Cobl; Cordon-bleu ubiquitin-like domain
    cl26464
    Location:8341071
    Atrophin-1; Atrophin-1 family
  5. NM_001365671.1NP_001352600.1  cordon-bleu protein-like 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC019181, AC107075
    Conserved Domains (2) summary
    pfam09469
    Location:190268
    Cobl; Cordon-bleu ubiquitin-like domain
    cl26464
    Location:8481085
    Atrophin-1; Atrophin-1 family
  6. NM_001365672.1NP_001352601.1  cordon-bleu protein-like 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC019181
    Conserved Domains (2) summary
    pfam09469
    Location:144222
    Cobl; Cordon-bleu ubiquitin-like domain
    cl26464
    Location:7891026
    Atrophin-1; Atrophin-1 family
  7. NM_001365673.1NP_001352602.1  cordon-bleu protein-like 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC019181
    Conserved Domains (2) summary
    pfam09469
    Location:144222
    Cobl; Cordon-bleu ubiquitin-like domain
    cl26464
    Location:7891026
    Atrophin-1; Atrophin-1 family
  8. NM_001365674.1NP_001352603.1  cordon-bleu protein-like 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC019181
    Conserved Domains (2) summary
    pfam09469
    Location:144222
    Cobl; Cordon-bleu ubiquitin-like domain
    cl26464
    Location:8021039
    Atrophin-1; Atrophin-1 family
  9. NM_001365675.1NP_001352604.1  cordon-bleu protein-like 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC019181
    Conserved Domains (2) summary
    pfam09469
    Location:144222
    Cobl; Cordon-bleu ubiquitin-like domain
    cl26464
    Location:8021039
    Atrophin-1; Atrophin-1 family
  10. NM_014900.4NP_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/Swiss-Prot
    Q53SF7
    Related
    ENSP00000341360.4, ENST00000342193.8
    Conserved Domains (2) summary
    pfam09469
    Location:144222
    Cobl; Cordon-bleu ubiquitin-like domain
    cl00155
    Location:60129
    UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    164680185..164842168 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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