SMART: Pfam domain TMEM237

The domain within your query sequence starts at position 134 and ends at position 382; the E-value for the TMEM237 domain shown below is 4.4e-95.

PAEPQYASELGVEDEDILTDEQSTLEHHSRFTAPTGVSQPVGKVFVEKSRRFQAADRSEL
IKTTENIDVSMDVKPSWTTRDVALSVHRAFRMVGLFSHGFLAGCAVWNTVVIYVLAGDQL
SNVSNLLQQYKPLAYPFQSLLYLLLALSTVSAFDRTDFAKISVAIRNFLALEPTALASFL
YFTALILSLSQQMTSDRIHLYEPSVNGSLWAAEAEEPILVPWIIVNLVVALLVGLSWLFL
SYRPGMDLS

TMEM237

PFAM accession number:	PF15383
Interpro abstract (IPR029409):	This entry represents a group of eukaryotic proteins that aid the production of new cilia in ciliogenesis. Mutations in the human protein cause a disease named Joubert syndrome type 14 (JBTS14), which is an autosomal recessive disorder characterised by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features [ (PUBMED:22152675) ]. Loss of the mammalian TMEM237 results in defective ciliogenesis and deregulation of Wnt signaling [ (PUBMED:22152675) ]. Proteins in this family are typically between 203 and 512 amino acids in length. There are two completely conserved G residues that may be functionally important.

PFAM accession number:

PF15383

Interpro abstract (IPR029409):

This entry represents a group of eukaryotic proteins that aid the production of new cilia in ciliogenesis. Mutations in the human protein cause a disease named Joubert syndrome type 14 (JBTS14), which is an autosomal recessive disorder characterised by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features [ (PUBMED:22152675) ]. Loss of the mammalian TMEM237 results in defective ciliogenesis and deregulation of Wnt signaling [ (PUBMED:22152675) ]. Proteins in this family are typically between 203 and 512 amino acids in length. There are two completely conserved G residues that may be functionally important.

This is a PFAM domain. For full annotation and more information, please see the PFAM entry TMEM237