Cleft lip and palate transmembrane protein 1

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CLPTM1
Identifiers
Aliases CLPTM1
External IDs MGI: 1927155 HomoloGene: 37464 GeneCards: CLPTM1
RNA expression pattern
PBB GE CLPTM1 201640 x at fs.png

PBB GE CLPTM1 211136 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001294
NM_001199468
NM_001282175
NM_001282176

NM_019649

RefSeq (protein)

NP_001269104
NP_001269105
NP_001285

NP_062623.2
NP_062623

Location (UCSC) Chr 19: 44.95 – 44.99 Mb Chr 7: 19.63 – 19.67 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
Cleft lip and palate transmembrane 1
Identifiers
Symbol CLPTM1
Pfam PF05602
InterPro IPR008429

Cleft lip and palate transmembrane protein 1 is a protein that in humans is encoded by the CLPTM1 gene.[3][4] It 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 nonsyndromic 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.[5] This family also contains the Homo sapiens cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis.[6]


References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC (Jan 1999). "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): 231–40. doi:10.1006/geno.1998.5577. PMID 9828125. 
  4. ^ "Entrez Gene: CLPTM1 cleft lip and palate associated transmembrane protein 1". 
  5. ^ Murray JC, Yoshiura K, Machida J, Daack-hirsch S, Patil SR, Ashworth LK, Hecht JT (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. 
  6. ^ Yamamoto K, Okamoto A, Isonishi S, Ochiai K, Ohtake Y (2001). "A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis". Biochem. Biophys. Res. Commun. 280 (4): 1148–1154. doi:10.1006/bbrc.2001.4250. PMID 11162647. 

Further reading[edit]