Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

COL11A1 (collagen, type XI, alpha 1)

Identity

Other namesCO11A1
COLL6
STL2
HGNC (Hugo) COL11A1
LocusID (NCBI) 1301
Location 1p21.1
Location_base_pair Starts at 103342023 and ends at 103574052 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)COL11A1   2186
Cards
Entrez_Gene (NCBI)COL11A1  1301  collagen, type XI, alpha 1
GeneCards (Weizmann)COL11A1
Ensembl hg19 (Hinxton)ENSG00000060718 [Gene_View]  chr1:103342023-103574052 [Contig_View]  COL11A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000060718 [Gene_View]  chr1:103342023-103574052 [Contig_View]  COL11A1 [Vega]
ICGC DataPortalENSG00000060718
cBioPortalCOL11A1
AceView (NCBI)COL11A1
Genatlas (Paris)COL11A1
WikiGenes1301
SOURCE (Princeton)COL11A1
Genomic and cartography
GoldenPath hg19 (UCSC)COL11A1  -     chr1:103342023-103574052 -  1p21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL11A1  -     1p21.1   [Description]    (hg38-Dec_2013)
EnsemblCOL11A1 - 1p21.1 [CytoView hg19]  COL11A1 - 1p21.1 [CytoView hg38]
Mapping of homologs : NCBICOL11A1 [Mapview hg19]  COL11A1 [Mapview hg38]
OMIM120280   154780   228520   603932   604841   
Gene and transcription
Genbank (Entrez)AB208844 AK299025 AU118365 BC117697 BU159588
RefSeq transcript (Entrez)NM_001190709 NM_001854 NM_080629 NM_080630
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_008033 NT_032977 NW_001838589 NW_004929290
Consensus coding sequences : CCDS (NCBI)COL11A1
Cluster EST : UnigeneHs.523446 [ NCBI ]
CGAP (NCI)Hs.523446
Alternative Splicing : Fast-db (Paris)GSHG0002306
Alternative Splicing GalleryENSG00000060718
Gene ExpressionCOL11A1 [ NCBI-GEO ]     COL11A1 [ SEEK ]   COL11A1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12107 (Uniprot)
NextProtP12107  [Medical]
With graphics : InterProP12107
Splice isoforms : SwissVarP12107 (Swissvar)
Domaine pattern : Prosite (Expaxy)NC1_FIB (PS51461)   
Domains : Interpro (EBI)Collagen    ConA-like_lec_gl_sf    ConA-like_subgrp    Fib_collagen_C    Laminin_G   
Related proteins : CluSTrP12107
Domain families : Pfam (Sanger)COLFI (PF01410)    Collagen (PF01391)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam01410    pfam01391    pfam02210   
Domain families : Smart (EMBL)COLFI (SM00038)  LamG (SM00282)  TSPN (SM00210)  
Domain structure : Prodom (Prabi Lyon)Fib_collagen_C (PD002078)   
DMDM Disease mutations1301
Blocks (Seattle)P12107
Human Protein AtlasENSG00000060718
Peptide AtlasP12107
HPRD00375
IPIIPI00295575   IPI00218539   IPI00218540   IPI00844199   IPI00954478   IPI00930415   IPI00853281   IPI00965543   
Protein Interaction databases
DIP (DOE-UCLA)P12107
IntAct (EBI)P12107
FunCoupENSG00000060718
BioGRIDCOL11A1
IntegromeDBCOL11A1
STRING (EMBL)COL11A1
Ontologies - Pathways
QuickGOP12107
Ontology : AmiGOcartilage condensation  chondrocyte development  extracellular matrix structural constituent  extracellular region  collagen type XI trimer  collagen type XI trimer  endoplasmic reticulum lumen  proteoglycan metabolic process  visual perception  sensory perception of sound  extracellular matrix disassembly  extracellular matrix organization  extracellular matrix organization  collagen fibril organization  collagen catabolic process  protein binding, bridging  tendon development  inner ear morphogenesis  metal ion binding  embryonic skeletal system morphogenesis  extracellular matrix binding  detection of mechanical stimulus involved in sensory perception of sound  ventricular cardiac muscle tissue morphogenesis  
Ontology : EGO-EBIcartilage condensation  chondrocyte development  extracellular matrix structural constituent  extracellular region  collagen type XI trimer  collagen type XI trimer  endoplasmic reticulum lumen  proteoglycan metabolic process  visual perception  sensory perception of sound  extracellular matrix disassembly  extracellular matrix organization  extracellular matrix organization  collagen fibril organization  collagen catabolic process  protein binding, bridging  tendon development  inner ear morphogenesis  metal ion binding  embryonic skeletal system morphogenesis  extracellular matrix binding  detection of mechanical stimulus involved in sensory perception of sound  ventricular cardiac muscle tissue morphogenesis  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis   
Protein Interaction DatabaseCOL11A1
DoCM (Curated mutations)COL11A1
Wikipedia pathwaysCOL11A1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCOL11A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL11A1
dbVarCOL11A1
ClinVarCOL11A1
1000_GenomesCOL11A1 
Exome Variant ServerCOL11A1
SNP (GeneSNP Utah)COL11A1
SNP : HGBaseCOL11A1
Genetic variants : HAPMAPCOL11A1
Genomic VariantsCOL11A1  COL11A1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000060718 
Somatic Mutations in Cancer : COSMICCOL11A1 
CONAN: Copy Number AnalysisCOL11A1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:103342023-103574052
Mutations and Diseases : HGMDCOL11A1
OMIM120280    154780    228520    603932    604841   
MedgenCOL11A1
NextProtP12107 [Medical]
GENETestsCOL11A1
Disease Genetic AssociationCOL11A1
Huge Navigator COL11A1 [HugePedia]  COL11A1 [HugeCancerGEM]
snp3D : Map Gene to Disease1301
DGIdb (Drug Gene Interaction db)COL11A1
General knowledge
Homologs : HomoloGeneCOL11A1
Homology/Alignments : Family Browser (UCSC)COL11A1
Phylogenetic Trees/Animal Genes : TreeFamCOL11A1
Chemical/Protein Interactions : CTD1301
Chemical/Pharm GKB GenePA26702
Clinical trialCOL11A1
Cancer Resource (Charite)ENSG00000060718
Other databases
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
CoreMineCOL11A1
GoPubMedCOL11A1
iHOPCOL11A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:55:41 CET 2014
Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.