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Cleft lip and palate transmembrane protein 1

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Protein-coding gene in the species Homo sapiens

CLPTM1
Identifiers
AliasesCLPTM1, transmembrane protein, CLPTM1 regulator of GABA type A receptor forward trafficking
External IDsOMIM: 604783; MGI: 1927155; HomoloGene: 37464; GeneCards: CLPTM1; OMA:CLPTM1 - orthologs
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)
Chromosome 7 (mouse)Genomic location for CLPTM1Genomic location for CLPTM1
Band7|7 A3Start19,365,496 bp
End19,398,958 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • left adrenal gland

  • nucleus accumbens

  • stromal cell of endometrium

  • caudate nucleus

  • putamen

  • cingulate gyrus

  • Amygdala

  • prefrontal cortex

  • right lobe of liver

  • body of stomach
Top expressed in
  • choroid plexus of fourth ventricle

  • yolk sac

  • entorhinal cortex

  • perirhinal cortex

  • CA3 field

  • right kidney

  • lactiferous gland

  • Ileal epithelium

  • tail of embryo

  • pyloric antrum
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1209

56457

Ensembl

n/a

ENSMUSG00000002981

UniProt

O96005

Q8VBZ3

RefSeq (mRNA)

NM_001294
NM_001199468
NM_001282175
NM_001282176

NM_019649

RefSeq (protein)

NP_001269104
NP_001269105
NP_001285

NP_062623

Location (UCSC)n/aChr 7: 19.37 – 19.4 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse
Cleft lip and palate transmembrane 1
Identifiers
SymbolCLPTM1
PfamPF05602
InterProIPR008429
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary

Cleft lip and palate transmembrane protein 1 (Clptm1) is a multi-transmembrane protein that in humans is encoded by the CLPTM1 gene. Clptm1 was characterized in 1995 as a surface membrane protein in the thymus during embryonic development in mice and is suggested to have an important role in T-cell development. A more recent study shows a role in GABAA receptor subunit intracellular anchoring and regulation resulting in an influence on synaptic strength Clptm1 belongs to a family of several eukaryotic cleft lip and palate transmembrane protein 1 sequences.

Cleft lip with or without cleft palate is a common birth defect that is genetically complex. The non-syndromic forms have been studied genetically using linkage and candidate-gene association studies with only partial success in defining the loci responsible for orofacial clefting. CLPTM1 encodes a transmembrane protein and has strong homology to two Caenorhabditis elegans genes, suggesting that CLPTM1 may belong to a new gene family. This family also contains the Homo sapiens cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis.

References

  1. ^ GRCm38: Ensembl release 89: ENSMUSG00000002981Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC (December 1998). "Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate". Genomics. 54 (2): 231–240. doi:10.1006/geno.1998.5577. PMID 9828125.
  5. "Entrez Gene: CLPTM1 cleft lip and palate associated transmembrane protein 1".
  6. Takeuchi T, Kuro-o M, Miyazawa H, Ohtsuki Y, Yamamoto H (July 1997). "Transgenic expression of a novel thymic epithelial cell antigen stimulates aberrant development of thymocytes". Journal of Immunology. 159 (2): 726–733. doi:10.4049/jimmunol.159.2.726. PMID 9218588.
  7. Takeuchi T, Tamamoto T, Tamura H, Yamamoto H (April 1995). "Characterization of a 50 kDa surface membrane protein on thymic stromal cells as an important factor for early T cell development". International Immunology. 7 (4): 583–590. doi:10.1093/intimm/7.4.583. PMID 7547685.
  8. Ge Y, Kang Y, Cassidy RM, Moon KM, Lewis R, Wong RO, et al. (February 2018). "Clptm1 Limits Forward Trafficking of GABAA Receptors to Scale Inhibitory Synaptic Strength". Neuron. 97 (3): 596–610.e8. doi:10.1016/j.neuron.2017.12.038. PMC 5810584. PMID 29395912.
  9. Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC (December 1998). "Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate". Genomics. 54 (2): 231–240. doi:10.1006/geno.1998.5577. PMID 9828125.
  10. Yamamoto K, Okamoto A, Isonishi S, Ochiai K, Ohtake Y (February 2001). "A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis". Biochemical and Biophysical Research Communications. 280 (4): 1148–1154. doi:10.1006/bbrc.2001.4250. PMID 11162647.

Further reading


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