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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
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr13:89540528-89611832 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      71305 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 45.50 cM
  • Mapping Data
    5 experiments
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: HomoloGene, HGNC
  • Synonyms
    CRT1, CRTL1
  • Links
    NCBI Gene ID: 1404
    neXtProt AC: NX_P10915
    UniProt: P10915

  • Chr Location
    5q14.3; chr5:83638198-83721210 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 1420
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: HAPLN1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Hapln1 mouse models

Human Disease Mouse Models
      
IDs
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
less
  • Phenotype Summary
    22 phenotypes from 2 alleles in 2 genetic backgrounds
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12950 NCBI Gene Model | MGI Sequence Detail 71305 C57BL/6J ±  kb
    transcript NM_013500 RefSeq | MGI Sequence Detail 5055 C57BL/6  
    polypeptide Q9QUP5 UniProt | EBI | 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 73
      Developmental Gene Expression 33
      Diseases 1
      Gene Ontology 4
      Phenotypes 18
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory