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HAPLN1 (hyaluronan and proteoglycan link protein 1)

Identity

Alias_namesCRTL1
cartilage linking protein 1
Other aliasCRT1
HGNC (Hugo) HAPLN1
LocusID (NCBI) 1404
Atlas_Id 50945
Location 5q14.3  [Link to chromosome band 5q14]
Location_base_pair Starts at 83638198 and ends at 83721077 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HAPLN1 (5q14.3) / GNAS (20q13.32)

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HAPLN1   2380
Cards
Entrez_Gene (NCBI)HAPLN1  1404  hyaluronan and proteoglycan link protein 1
AliasesCRT1; CRTL1
GeneCards (Weizmann)HAPLN1
Ensembl hg19 (Hinxton)ENSG00000145681 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145681 [Gene_View]  chr5:83638198-83721077 [Contig_View]  HAPLN1 [Vega]
ICGC DataPortalENSG00000145681
TCGA cBioPortalHAPLN1
AceView (NCBI)HAPLN1
Genatlas (Paris)HAPLN1
WikiGenes1404
SOURCE (Princeton)HAPLN1
Genetics Home Reference (NIH)HAPLN1
Genomic and cartography
GoldenPath hg38 (UCSC)HAPLN1  -     chr5:83638198-83721077 -  5q14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HAPLN1  -     5q14.3   [Description]    (hg19-Feb_2009)
EnsemblHAPLN1 - 5q14.3 [CytoView hg19]  HAPLN1 - 5q14.3 [CytoView hg38]
Mapping of homologs : NCBIHAPLN1 [Mapview hg19]  HAPLN1 [Mapview hg38]
OMIM115435   
Gene and transcription
Genbank (Entrez)AK313713 BC057808 HQ448513 M63579 U43328
RefSeq transcript (Entrez)NM_001884
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HAPLN1
Cluster EST : UnigeneHs.2799 [ NCBI ]
CGAP (NCI)Hs.2799
Alternative Splicing GalleryENSG00000145681
Gene ExpressionHAPLN1 [ NCBI-GEO ]   HAPLN1 [ EBI - ARRAY_EXPRESS ]   HAPLN1 [ SEEK ]   HAPLN1 [ MEM ]
Gene Expression Viewer (FireBrowse)HAPLN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1404
GTEX Portal (Tissue expression)HAPLN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10915   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10915  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10915
Splice isoforms : SwissVarP10915
PhosPhoSitePlusP10915
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    LINK_1 (PS01241)    LINK_2 (PS50963)   
Domains : Interpro (EBI)C-type_lectin-like/link    CTDL_fold    Ig-like_dom    Ig-like_fold    Ig_sub    Ig_V-set    Link_dom   
Domain families : Pfam (Sanger)V-set (PF07686)    Xlink (PF00193)   
Domain families : Pfam (NCBI)pfam07686    pfam00193   
Domain families : Smart (EMBL)IG (SM00409)  IGv (SM00406)  LINK (SM00445)  
Conserved Domain (NCBI)HAPLN1
DMDM Disease mutations1404
Blocks (Seattle)HAPLN1
SuperfamilyP10915
Human Protein AtlasENSG00000145681
Peptide AtlasP10915
HPRD00275
IPIIPI00023601   IPI00966254   IPI00965970   IPI00966538   IPI00964780   IPI00967468   IPI00965655   
Protein Interaction databases
DIP (DOE-UCLA)P10915
IntAct (EBI)P10915
FunCoupENSG00000145681
BioGRIDHAPLN1
STRING (EMBL)HAPLN1
ZODIACHAPLN1
Ontologies - Pathways
QuickGOP10915
Ontology : AmiGOskeletal system development  extracellular matrix structural constituent  hyaluronic acid binding  extracellular region  proteinaceous extracellular matrix  cell adhesion  central nervous system development  extracellular matrix organization  extracellular matrix  extracellular matrix  
Ontology : EGO-EBIskeletal system development  extracellular matrix structural constituent  hyaluronic acid binding  extracellular region  proteinaceous extracellular matrix  cell adhesion  central nervous system development  extracellular matrix organization  extracellular matrix  extracellular matrix  
NDEx NetworkHAPLN1
Atlas of Cancer Signalling NetworkHAPLN1
Wikipedia pathwaysHAPLN1
Orthology - Evolution
OrthoDB1404
GeneTree (enSembl)ENSG00000145681
Phylogenetic Trees/Animal Genes : TreeFamHAPLN1
HOVERGENP10915
HOGENOMP10915
Homologs : HomoloGeneHAPLN1
Homology/Alignments : Family Browser (UCSC)HAPLN1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHAPLN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HAPLN1
dbVarHAPLN1
ClinVarHAPLN1
1000_GenomesHAPLN1 
Exome Variant ServerHAPLN1
ExAC (Exome Aggregation Consortium)HAPLN1 (select the gene name)
Genetic variants : HAPMAP1404
Genomic Variants (DGV)HAPLN1 [DGVbeta]
DECIPHERHAPLN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHAPLN1 
Mutations
ICGC Data PortalHAPLN1 
TCGA Data PortalHAPLN1 
Broad Tumor PortalHAPLN1
OASIS PortalHAPLN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHAPLN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHAPLN1
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
BioMutasearch HAPLN1
DgiDB (Drug Gene Interaction Database)HAPLN1
DoCM (Curated mutations)HAPLN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HAPLN1 (select a term)
intoGenHAPLN1
Cancer3DHAPLN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM115435   
Orphanet
MedgenHAPLN1
Genetic Testing Registry HAPLN1
NextProtP10915 [Medical]
TSGene1404
GENETestsHAPLN1
Target ValidationHAPLN1
Huge Navigator HAPLN1 [HugePedia]
snp3D : Map Gene to Disease1404
BioCentury BCIQHAPLN1
ClinGenHAPLN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1404
Chemical/Pharm GKB GenePA26901
Clinical trialHAPLN1
Miscellaneous
canSAR (ICR)HAPLN1 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHAPLN1
EVEXHAPLN1
GoPubMedHAPLN1
iHOPHAPLN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:55:01 CEST 2017

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