The domain within your query sequence starts at position 56 and ends at position 497; the E-value for the CLPTM1 domain shown below is 5.8e-148.



PFAM accession number:PF05602
Interpro abstract (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) ].

GO component:integral component of membrane (GO:0016021)

This is a PFAM domain. For full annotation and more information, please see the PFAM entry CLPTM1