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Clptm1 Gene Detail
Summary
  • Symbol
    Clptm1
  • Name
    cleft lip and palate associated transmembrane protein 1
  • Synonyms
    HS9, N14
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927155
    NCBI Gene: 56457
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:19365505-19398955 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 9.93 cM, cytoband A2
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    761 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927155
 protein coding gene Chr7:19365496-19398958 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031788
 protein coding gene Chr7:17663976-17702859 (-)
A/J MGP_AJ_G0031764
 protein coding gene Chr7:17280878-17314346 (-)
AKR/J MGP_AKRJ_G0031690
 protein coding gene Chr7:17760627-17794055 (-)
BALB/cJ MGP_BALBcJ_G0031769
 protein coding gene Chr7:17487608-17521464 (-)
C3H/HeJ MGP_C3HHeJ_G0031491
 protein coding gene Chr7:18024090-18060800 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032235
 protein coding gene Chr7:18534526-18569919 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029301
 protein coding gene Chr7:18928870-18963051 (-)
CAST/EiJ MGP_CASTEiJ_G0030834
 protein coding gene Chr7:14458414-14497004 (-)
CBA/J MGP_CBAJ_G0031453
 protein coding gene Chr7:19210586-19249562 (-)
DBA/2J MGP_DBA2J_G0031608
 protein coding gene Chr7:17232001-17266706 (-)
FVB/NJ MGP_FVBNJ_G0031560
 protein coding gene Chr7:17097435-17135926 (-)
LP/J MGP_LPJ_G0031691
 protein coding gene Chr7:17980726-18014219 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031596
 protein coding gene Chr7:19039106-19076253 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032263
 protein coding gene Chr7:17367220-17404706 (-)
PWK/PhJ MGP_PWKPhJ_G0030558
 protein coding gene Chr7:14329041-14363198 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030385
 protein coding gene Chr7:12079074-12116556 (-)
WSB/EiJ MGP_WSBEiJ_G0030934
 protein coding gene Chr7:17587606-17622444 (-)



Homology
more
  • Human Ortholog
    CLPTM1, CLPTM1 regulator of GABA type A receptor forward trafficking
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CLPTM1, CLPTM1 regulator of GABA type A receptor forward trafficking
  • Links
    NCBI Gene ID: 1209
    neXtProt AC: NX_O96005
    UniProt: O96005

  • Chr Location
    19q13.32; chr19:44954585-44993341 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    1 images
    15 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.
Mice homozygous for a knock-out allele show abnormal morula morphology and complete embryonic lethality before implantation. In vitro, embryos fail to hatch from the zona pellucida and die after 3 days in culture, never forming outgrowths.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    7
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
membraneless 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
    713
  • Tissues
    5
  • cDNA Data
    192
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56457 NCBI Gene Model | MGI Sequence Detail 33451 C57BL/6J ±  kb
    transcript NM_019649 RefSeq | MGI Sequence Detail 4147 C57BL/6  
    polypeptide Q8VBZ3 UniProt | EBI | MGI Sequence Detail 664 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 192
      cDNA 192

      Microarray probesets 4
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 2
      Gene Ontology 7
      Phenotypes 15
    • Earliest
      J:135028 Takeuchi T, et al., Characterization of a 50 kDa surface membrane protein on thymic stromal cells as an important factor for early T cell development. Int Immunol. 1995 Apr;7(4):583-90
    • Latest
      J:357551 Ge Y, et al., Haploinsufficiency of GABA(A) Receptor-Associated Clptm1 Enhances Phasic and Tonic Inhibitory Neurotransmission, Suppresses Excitatory Synaptic Plasticity, and Impairs Memory. J Neurosci. 2024 Aug 7;44(32)
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory