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
CLPTM1 | |||||||||||||||||||||||||
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Aliases | CLPTM1, transmembrane protein, CLPTM1 regulator of GABA type A receptor forward trafficking | ||||||||||||||||||||||||
External IDs | OMIM: 604783 MGI: 1927155 HomoloGene: 37464 GeneCards: CLPTM1 | ||||||||||||||||||||||||
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Species | Human | Mouse | |||||||||||||||||||||||
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Location (UCSC) | Chr 19: 44.95 – 44.99 Mb | Chr 7: 19.37 – 19.4 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
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Cleft lip and palate associated transmembrane protein 1, also known as CLPTM1, is a human gene.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000104853 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002981 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: CLPTM1 cleft lip and palate associated transmembrane protein 1".
Further reading
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
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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
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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
This tab holds annotation information from the InterPro database.
InterPro entry IPR008429
This entry includes cleft lip and palate transmembrane protein 1 (CLPTM1) and cleft lip and palate transmembrane protein 1-like protein (CLPTM1L, also known as CRR9). This entry also includes uncharacterised proteins from fungi and plants.
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 ].
Human CLPTM1L protects non-small cell lung cancer tumour cells from genotoxic apoptosis and may contribute to lung cancer risk [ PUBMED:24366883 , PUBMED:22675468 ].
Gene Ontology
The mapping between Pfam and Gene Ontology is provided by InterPro. If you use this data please cite InterPro.
Cellular component | integral component of membrane (GO:0016021) |
Domain organisation
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Alignments
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Seed (124) |
Full (2940) |
Representative proteomes | UniProt (5103) |
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RP15 (629) |
RP35 (1272) |
RP55 (2265) |
RP75 (3021) |
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PP/heatmap | 1 |
1Cannot generate PP/Heatmap alignments for seeds; no PP data available
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Seed (124) |
Full (2940) |
Representative proteomes | UniProt (5103) |
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RP15 (629) |
RP35 (1272) |
RP55 (2265) |
RP75 (3021) |
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Raw Stockholm | |||||||
Gzipped |
You can also download a FASTA format file containing the full-length sequences for all sequences in the full alignment.
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Curation and family details
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Curation
Seed source: | Pfam-B_8636 (release 8.0) |
Previous IDs: | none |
Type: | Family |
Sequence Ontology: | SO:0100021 |
Author: |
Moxon SJ |
Number in seed: | 124 |
Number in full: | 2940 |
Average length of the domain: | 372.5 aa |
Average identity of full alignment: | 31 % |
Average coverage of the sequence by the domain: | 70.7 % |
HMM information
HMM build commands: |
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 61295632 -E 1000 --cpu 4 HMM pfamseq
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Model details: |
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Model length: | 435 | ||||||||||||
Family (HMM) version: | 15 | ||||||||||||
Download: | download the raw HMM for this family |
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AlphaFold Structure Predictions
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trRosetta Structure
The structural model below was generated by the Baker group with the trRosetta software using the Pfam UniProt multiple sequence alignment.
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