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 NCBI 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 zebrafish

Gene Tree: Hapln1

Human homologs

Human Homolog		HAPLN1, hyaluronan and proteoglycan link protein 1
NCBI Gene ID		1404
neXtProt AC		NX_P10915
Human Synonyms		CRTL1
Human Chr (Location)		5q14.3; chr5:82934017-83016896 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

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 Using Mouse Hapln1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (6 annotations)

Process	cell adhesion
Component	extracellular matrix, extracellular region, ...
Function	hyaluronic acid binding

External Resources: FuncBase

Expression

Literature Summary: (23 records)
Data Summary: Results (114)    Tissues (83)    Images (19)
Theiler Stages: 11, 13, 17, 20, 21, 23, 25, 28

Assay Type	Results
RNA in situ	106
Northern blot	8

cDNA source data(29)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(34) Genomic(2) cDNA(31) Primer pair(1)
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 Knockout Project Status	Hapln1

Sequences

Length	Strain/Species
genomic	12950	NCBI Gene Model | MGI Sequence Detail	71197	C57BL/6J
transcript	NM_013500	RefSeq | MGI Sequence Detail	5055	C57BL/6
polypeptide	Q9QUP5	UniProt | EBI | MGI Sequence Detail	356	Not Applicable

All sequences(24) RefSeq(2) UniProt(1)

Polymorphisms

PCR(1) : SNPs(391 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR016187	C-type lectin fold
InterPro	IPR016186	C-type lectin-like
InterPro	IPR007110	Immunoglobulin-like
InterPro	IPR013783	Immunoglobulin-like fold
InterPro	IPR013106	Immunoglobulin V-set
InterPro	IPR003596	Immunoglobulin V-set, subgroup
InterPro	IPR000538	Link
Protein Ontology	PR:000008444	hyaluronan and proteoglycan link protein 1

Graphical View of Protein Domain Structure

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:179841 Pacheco M, et al., Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base. Bone. 2012 Jan;50(1):28-41
All references(56)

Other accession IDs

MGI:1277951, MGI:2145470