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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:89688654-89759951 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 45.50 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    512 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1337006
 protein coding gene Chr13:89687915-89759951 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020799
 protein coding gene Chr13:90708197-90785658 (+)
A/J MGP_AJ_G0020753
 protein coding gene Chr13:87336665-87414640 (+)
AKR/J MGP_AKRJ_G0020726
 protein coding gene Chr13:90011340-90082105 (+)
BALB/cJ MGP_BALBcJ_G0020749
 protein coding gene Chr13:88010638-88083091 (+)
C3H/HeJ MGP_C3HHeJ_G0020543
 protein coding gene Chr13:89753966-89829169 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021186
 protein coding gene Chr13:93574423-93653736 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018754
 protein coding gene Chr13:83398767-83465337 (+)
CAST/EiJ MGP_CASTEiJ_G0020061
 protein coding gene Chr13:88934813-89013889 (+)
CBA/J MGP_CBAJ_G0020502
 protein coding gene Chr13:97210590-97290014 (+)
DBA/2J MGP_DBA2J_G0020627
 protein coding gene Chr13:87112354-87188333 (+)
FVB/NJ MGP_FVBNJ_G0020607
 protein coding gene Chr13:85966381-86037534 (+)
LP/J MGP_LPJ_G0020700
 protein coding gene Chr13:90857663-90932535 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020636
 protein coding gene Chr13:97558686-97653221 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021226
 protein coding gene Chr13:89416583-89497078 (+)
PWK/PhJ MGP_PWKPhJ_G0019814
 protein coding gene Chr13:85844540-85918335 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019637
 protein coding gene Chr13:85656629-85728044 (+)
WSB/EiJ MGP_WSBEiJ_G0020119
 protein coding gene Chr13:89897886-89972161 (+)



Homology
more
  • Human Ortholog
    HAPLN1, hyaluronan and proteoglycan link protein 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HAPLN1, hyaluronan and proteoglycan link protein 1
  • Synonyms
    CRT1, CRTL1
  • Links
    NCBI Gene ID: 1404
    neXtProt AC: NX_P10915
    UniProt: P10915

  • Chr Location
    5q14.3; chr5:83637805-83720855 (-)  GRCh38
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
    21 phenotypes from 2 alleles in 2 genetic backgrounds
    22 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
    14
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    900
  • Tissues
    138
  • cDNA Data
    31
  • Literature Summary
    45
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12950 NCBI Gene Model | MGI Sequence Detail 71298 C57BL/6J ±  kb
    transcript NM_013500 RefSeq | MGI Sequence Detail 5055 ZRU/MplStud  
    polypeptide Q9QUP5 UniProt | EBI | MGI Sequence Detail 356 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      Genomic 2
      cDNA 34
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1277951, MGI:2145470
    References
    more
    • Summaries
      All 92
      Developmental Gene Expression 45
      Diseases 1
      Gene Ontology 6
      Phenotypes 22
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:341969 Jacob T, et al., Molecular and spatial landmarks of early mouse skin development. Dev Cell. 2023 Oct 23;58(20):2140-2162.e5
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory