Variant position: 36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 373 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RIPQNPRYQHIKSRLDTGNS MTKYTEKLEEIKKNYRYKKDE
Mouse RIPQNPRYQHVKSRLDTGNS MTKYIEKLEEIKKNYRYKKDE
Rat --PE---------------- ------------PDYRYKKDE
Bovine RIPQNPRYQHVKSRLDTGNS MTKYIEKLEEIKKNYRYKKDE
Chicken RIPQNPRYQHIKTRLDTGSS LTKYIEKLEEIKRNYRYRKDE
Xenopus tropicalis RIPQNLKYQHIKTRLDTGNS MTKYLEKIEEIKKNYRYKKDE
Zebrafish KIPQNPKYQHVKTRLDTGSS LTKYMERLEEARKNYRYRKDE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 373 Centrosomal protein of 41 kDa
33 – 49 GNSMTKYTEKLEEIKKN -> D. In isoform 4.
34 – 54 NSMTKYTEKLEEIKKNYRYKK -> ACVYLTSSPALPDCAMNGLCF. In isoform 3.
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Lee J.E.; Silhavy J.L.; Zaki M.S.; Schroth J.; Bielas S.L.; Marsh S.E.; Olvera J.; Brancati F.; Iannicelli M.; Ikegami K.; Schlossman A.M.; Merriman B.; Attie-Bitach T.; Logan C.V.; Glass I.A.; Cluckey A.; Louie C.M.; Lee J.H.; Raynes H.R.; Rapin I.; Castroviejo I.P.; Setou M.; Barbot C.; Boltshauser E.; Nelson S.F.; Hildebrandt F.; Johnson C.A.; Doherty D.A.; Valente E.M.; Gleeson J.G.;
Nat. Genet. 44:193-199(2012)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN JBTS15; INTERACTION WITH TTLL6; VARIANTS THR-36; GLU-89; HIS-179 AND CYS-360;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.