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Hapln1 Gene Detail
Summary
  • Symbol
    Hapln1
  • Name
    hyaluronan and proteoglycan link protein 1
  • Synonyms
    cartilage linking protein 1, CLP, Crtl1, Crtl1l, link protein, LP-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1337006
    NCBI Gene: 12950
  • Gene Overview
    MyGene.info: HAPLN1
Location & Maps
more
  • Sequence Map
    Chr13:89540636-89611832 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      71197 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    HAPLN1, hyaluronan and proteoglycan link protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HAPLN1, hyaluronan and proteoglycan link protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CRT1, CRTL1
  • Links
    NCBI Gene ID: 1404
    neXtProt AC: NX_P10915

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

  • HomoloGene
    Vertebrate Homology Class 1420
    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
Human Diseases
more
  • Diseases
    1 with Hapln1 mouse models

Human Disease Mouse Models
       Spondyloepiphyseal Dysplasia Congenita; SEDC   OMIM: 183900 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Hapln1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    512 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 35
    Genomic 2
    cDNA 31
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGI:1277951, MGI:2145470
References
more
  • Summaries
    All 63
    Developmental Gene Expression 29
    Diseases 1
    Gene Ontology 4
    Phenotypes 15
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory