Property Summary

NCBI Gene PubMed Count 6
PubMed Score 4.65
PubTator Score 6.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Joubert syndrome 61 3.318 1.7

Expression

AA Sequence

MPQCPTLESQEGENSEEKGDSSKEDPKETVALAFVRENPGAQNGLQNAQQQGKKKRKKKRLVINLSSCRY      1 - 70
ESVRRAAQQYGFREGGEDDDWTLYWTDYSVSLERVMEMKSYQKINHFPGMSEICRKDLLARNMSRMLKMF     71 - 140
PKDFRFFPRTWCLPADWGDLQTYSRSRKNKTYICKPDSGCQGKGIFITRTVKEIKPGEDMICQLYISKPF    141 - 210
IIDGFKFDLRIYVLVTSCDPLRIFVYNEGLARFATTSYSRPCTDNLDDICMHLTNYSINKHSSNFSRDAH    211 - 280
SGSKRKLSTFSAYLEDHSYNVEQIWRDIEDVIIKTLISAHPIIRHNYHTCFPNHTLNSACFEILGFDILL    281 - 350
DHKLKPWLLEVNHSPSFSTDSRLDKEVKDGLLYDTLVLINLESCDKKKVLEEERQRGQFLQQCCSREMRI    351 - 420
EEAKGFRAVQLKKTETYEKENCGGFRLIYPSLNSEKYEKFFQDNNSLFQNTVASRAREEYARQLIQELRL    421 - 490
KREKKPFQMKKKVEMQGESAGEQVRKKGMRGWQQKQQQKDKAATQASKQYIQPLTLVSYTPDLLLSVRGE    491 - 560
RKNETDSSLNQEAPTEEASSVFPKLTSAKPFSSLPDLRNINLSSSKLEPSKPNFSIKEAKSASAVNVFTG    561 - 630
TVHLTSVETTPESTTQLSISPKSPPTLAVTASSEYSGPETDRVVSFKCKKQQTPPHLTQKKMLKSFLPTK    631 - 700
SKSFWESPNTNWTLLKSDMNKPHLISELLTKLQLSGKLSFFPAHYNPKLGMNNLSQNPSLPGECHSRSDS    701 - 770
SGEKRQLDVSSLLLQSPQSYNVTLRDLLVIATPAQLDPRPCRSHASAMRDPCMQDQEAYSHCLISGQKGC    771 - 840
ERS                                                                       841 - 843
//

Text Mined References (9)

PMID Year Title
25959773 2015 Multivalent Microtubule Recognition by Tubulin Tyrosine Ligase-like Family Glutamylases.
24280982 2014 Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
22246503 2012 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16443334 2006 The testis-specific apoptosis related gene TTL.6 underwent adaptive evolution in the lineage leading to humans.
15890843 2005 Tubulin polyglutamylase enzymes are members of the TTL domain protein family.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.