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0  structures 253  species 0  interactions 492  sequences 9  architectures

Family: CLPTM1 (PF05602)

Summary: Cleft lip and palate transmembrane protein 1 (CLPTM1)

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This is the Wikipedia entry entitled "Cleft lip and palate transmembrane protein 1". More...

Cleft lip and palate transmembrane protein 1 Edit Wikipedia article

Cleft lip and palate associated transmembrane protein 1
Identifiers
Symbol 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 NM_019649
RefSeq (protein) NP_001285 NP_062623
Location (UCSC) Chr 19:
45.46 – 45.5 Mb
Chr 7:
19.63 – 19.67 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[edit]

  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". 
  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. 

Further reading[edit]



This page is based on a Wikipedia article. The text is available under the Creative Commons Attribution/Share-Alike License.

This tab holds the annotation information that is stored in the Pfam database. As we move to using Wikipedia as our main source of annotation, the contents of this tab will be gradually replaced by the Wikipedia tab.

Cleft lip and palate transmembrane protein 1 (CLPTM1) Provide feedback

This family consists 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 [1]. This family also contains the human cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis [2].

Literature references

  1. Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC; , Genomics 1998;54:231-240.: 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. PUBMED:9828125 EPMC:9828125

  2. Yamamoto K, Okamoto A, Isonishi S, Ochiai K, Ohtake Y; , Biochem Biophys Res Commun 2001;280:1148-1154.: A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis. PUBMED:11162647 EPMC:11162647


External database links

This tab holds annotation information from the InterPro database.

InterPro entry IPR008429

Clefts of the lip and/or palate (CL/P) are some of the most common birth defects. They may be categorised into syndromic or non-syndromic types, with syndromic defects having an underlying chromosomal or teratogenic cause. Around 70% of clefts are non-syndromic and individuals have no typical physical or developmental abnormalities; these clefts generally show polygenetic behaviour and complex inheritance [PUBMED:16122939]. Studies have identified regions on chromosomes 19 and 11 which may be involved in non-syndromic cleft lip and palates; this included a novel gene on chromosome 19, cleft lip and palate-associated transmembrane protein 1 (CLPTM1) [PUBMED:9828125]. The Poliovirus receptor-related 1 gene (PVRL1), which is located on chromosome 11, has also been shown to associate with non-syndromic cleft lip and palates [PUBMED:11559849, PUBMED:19715471].

CLPTM1 encodes a transmembrane protein and has strong homology to two Caenorhabditis elegans genes, suggesting that CLPTM1 may belong to a new gene family [PUBMED:9828125]. This family also contains the Homo sapiens cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis [PUBMED:11162647].

Domain organisation

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  Seed
(26)
Full
(492)
Representative proteomes NCBI
(471)
Meta
(12)
RP15
(122)
RP35
(178)
RP55
(264)
RP75
(331)
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  Seed
(26)
Full
(492)
Representative proteomes NCBI
(471)
Meta
(12)
RP15
(122)
RP35
(178)
RP55
(264)
RP75
(331)
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Seed source: Pfam-B_8636 (release 8.0)
Previous IDs: none
Type: Family
Author: Moxon SJ
Number in seed: 26
Number in full: 492
Average length of the domain: 368.50 aa
Average identity of full alignment: 30 %
Average coverage of the sequence by the domain: 71.07 %

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HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 19.7 19.7
Trusted cut-off 20.3 19.7
Noise cut-off 19.1 19.6
Model length: 438
Family (HMM) version: 7
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