Cleft lip and palate transmembrane protein 1

Cleft lip and palate transmembrane protein 1
Cleft lip and palate associated transmembrane protein 1
Identifiers
Symbols CLPTM1;
External IDs OMIM604783 MGI1927155 HomoloGene37464 GeneCards: CLPTM1 Gene
RNA expression pattern
PBB GE CLPTM1 211136 s at tn.png
PBB GE CLPTM1 201640 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1209 56457
Ensembl ENSG00000104853 ENSMUSG00000002981
UniProt O96005 Q8VBZ3
RefSeq (mRNA) NM_001199468.1 NM_019649.2
RefSeq (protein) NP_001186397.1 NP_062623.2
Location (UCSC) Chr 19:
45.46 – 45.5 Mb
Chr 7:
20.22 – 20.25 Mb
PubMed search [1] [2]
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.[1][2] 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.[3] This family also contains the Homo sapiens cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis.[4]


References

  1. ^ 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. 
  2. ^ "Entrez Gene: CLPTM1 cleft lip and palate associated transmembrane protein 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1209. 
  3. ^ 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. 
  4. ^ 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. 

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