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Hapln1
Gene Detail
Symbol

Name
ID
Hapln1
hyaluronan and proteoglycan link protein 1
MGI:1337006
Synonyms
cartilage linking protein 1, CLP, Crtl1, Crtl1l, link protein, LP-1
Feature Type
protein coding gene
Genetic Map
Chromosome 13
45.50 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr13:89540636-89611832 bp, + strand
From Ensembl annotation of GRCm38

  71197 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1420  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: HAPLN1
Gene Tree: Hapln1

Human
homologs
HAPLN1, hyaluronan and proteoglycan link protein 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1404
neXtProt AC: NX_P10915

Human Synonyms: CRT1, CRTL1

Human Chr (Location): 5q14.3; chr5:83638198-83721077 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism.
 
Human Diseases Modeled in Mice Using Hapln1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Hapln1 interacts with 385 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process activation of mitophagy in response to mitochondrial depolarization, cell adhesion, ...
Component extracellular matrix, extracellular region, ...
Function hyaluronic acid binding
External Resources: FuncBase
Expression
Literature Summary: (27 records)
Data Summary: Results (122)    Tissues (89)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 6
RNA in situ 106
Northern blot 8
RT-PCR 2
cDNA source data(29)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA HAPLN1    NEW 
Molecular
reagents
All nucleic(35) Genomic(2) cDNA(31) Primer pair(2)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000021613 (Evidence)
Entrez Gene 12950 (Evidence)
UniGene 266790
DFCI TC1580181, TC1607174
DoTS DT.91338054, DT.97334568
NIA Mouse Gene Index U015084
Consensus CDS Project CCDS26671.1
International Mouse Phenotyping Consortium Status Hapln1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021613 Ensembl Gene Model | MGI Sequence Detail 71197 C57BL/6J ±  kb
transcript ENSMUST00000022108 Ensembl | MGI Sequence Detail 5055 Not Applicable 
polypeptide ENSMUSP00000022108 Ensembl | MGI Sequence Detail 356 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(4) UniProt(1)
Polymorphisms
PCR(1) : SNPs within 2kb(520 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016187 C-type lectin fold
InterPro IPR016186 C-type lectin-like
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR013106 Immunoglobulin V-set domain
InterPro IPR000538 Link domain
Protein Ontology PR:000008444 hyaluronan and proteoglycan link protein 1
References
(Earliest) J:49147 Osborne-Lawrence SL, et al., Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene. Genomics. 1990 Nov;8(3):562-7
(Latest) J:219223 Nagalakshmi VK, et al., microRNA-dependent temporal gene expression in the ureteric bud epithelium during mammalian kidney development. Dev Dyn. 2015 Mar;244(3):444-56
All references(63)
Disease annotation references (1)
Other
accession IDs
MGI:1277951, MGI:2145470

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory