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Centrosomal protein of 41 kDa (Cep41) (Testis-specific gene A14 protein)

 CEP41_HUMAN             Reviewed;         373 AA.
Q9BYV8; A4D1M0; B4DQ35; F5H0V6; Q7Z496; Q86TM1; Q8NFU8; Q9H6A3;
Q9NPV3;
21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
01-JUN-2001, sequence version 1.
25-OCT-2017, entry version 140.
RecName: Full=Centrosomal protein of 41 kDa;
Short=Cep41;
AltName: Full=Testis-specific gene A14 protein;
Name=CEP41; Synonyms=TSGA14;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), AND TISSUE SPECIFICITY.
PubMed=12034494; DOI=10.1016/S0378-1119(02)00428-6;
Yamada T., Kayashima T., Yamasaki K., Ohta T., Yoshiura K.,
Matsumoto N., Fujimoto S., Niikawa N., Kishino T.;
"The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic
imprinting.";
Gene 288:57-63(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Brunner B., Kalamajka R., Ropers H.-H., Fundele R., Kalscheuer V.M.;
"Identification of a testis-specific gene (TSGA14) proximal to the
MEST/COPG2 imprinting cluster on chromosome 7.";
Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
TISSUE=Testis;
Xu M., Xu Y.Z., Zhou Z.M., Sha J.H.;
Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5).
TISSUE=Neuroblastoma, Trachea, and Uterus;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12853948; DOI=10.1038/nature01782;
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
Waterston R.H., Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12690205; DOI=10.1126/science.1083423;
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
Kanematsu E., Gentles S., Christopoulos C.C., Choufani S.,
Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z.,
Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C.,
Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J.,
Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F.,
Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F.,
Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H.,
Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G.,
Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P.,
Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J.,
Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F.,
Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B.,
Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W.,
Mural R.J., Adams M.D., Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Eye;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 153-373 (ISOFORM 1).
TISSUE=Melanoma;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[10]
SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
TISSUE=Lymphoblast;
PubMed=14654843; DOI=10.1038/nature02166;
Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A.,
Mann M.;
"Proteomic characterization of the human centrosome by protein
correlation profiling.";
Nature 426:570-574(2003).
[11]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Leukemic T-cell;
PubMed=19690332; DOI=10.1126/scisignal.2000007;
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
Rodionov V., Han D.K.;
"Quantitative phosphoproteomic analysis of T cell receptor signaling
reveals system-wide modulation of protein-protein interactions.";
Sci. Signal. 2:RA46-RA46(2009).
[12]
POSSIBLE INVOLVEMENT IN AUTISM, AND VARIANTS ALA-206 AND GLY-240.
PubMed=21438139; DOI=10.1002/ajmg.b.31162;
Korvatska O., Estes A., Munson J., Dawson G., Bekris L.M., Kohen R.,
Yu C.E., Schellenberg G.D., Raskind W.H.;
"Mutations in the TSGA14 gene in families with autism spectrum
disorders.";
Am. J. Med. Genet. B Neuropsychiatr. Genet. 156:303-311(2011).
[13]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[14]
FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN JBTS15, INTERACTION
WITH TTLL6, AND VARIANTS THR-36; GLU-89; HIS-179 AND CYS-360.
PubMed=22246503; DOI=10.1038/ng.1078;
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.;
"CEP41 is mutated in Joubert syndrome and is required for tubulin
glutamylation at the cilium.";
Nat. Genet. 44:193-199(2012).
[15]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
-!- FUNCTION: Required during ciliogenesis for tubulin glutamylation
in cilium. Probably acts by participating in the transport of
TTLL6, a tubulin polyglutamylase, between the basal body and the
cilium. {ECO:0000269|PubMed:22246503}.
-!- SUBUNIT: Found in a complex with TTLL6.
-!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule
organizing center, centrosome. Cell projection, cilium. Cytoplasm,
cytoskeleton, cilium basal body. Note=Localizes mainly to the
cilium basal body and in primary cilia.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1; Synonyms=L-type;
IsoId=Q9BYV8-1; Sequence=Displayed;
Name=2;
IsoId=Q9BYV8-2; Sequence=VSP_012248;
Name=3;
IsoId=Q9BYV8-3; Sequence=VSP_012245;
Name=4; Synonyms=S-type;
IsoId=Q9BYV8-4; Sequence=VSP_012246, VSP_012247;
Name=5;
IsoId=Q9BYV8-5; Sequence=VSP_042579, VSP_012248;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Isoform 1 and isoform 4 are expressed in
testis and fetal tissues. {ECO:0000269|PubMed:12034494}.
-!- DOMAIN: Although it contains a rhodanese domain, does not display
phosphatase activity, suggesting that the protein is enzymatically
inactive. {ECO:0000269|PubMed:22246503}.
-!- DISEASE: Joubert syndrome 15 (JBTS15) [MIM:614464]: An autosomal
recessive disorder presenting with cerebellar ataxia, oculomotor
apraxia, hypotonia, neonatal breathing abnormalities and
psychomotor delay. Neuroradiologically, it is characterized by
cerebellar vermian hypoplasia/aplasia, thickened and reoriented
superior cerebellar peduncles, and an abnormally large
interpeduncular fossa, giving the appearance of a molar tooth on
transaxial slices (molar tooth sign). Additional variable features
include retinal dystrophy, renal disease, liver fibrosis and
polydactyly. {ECO:0000269|PubMed:22246503}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- DISEASE: Note=Genetic variations in CEP41 may be associated with
susceptibility to autism (PubMed:21438139).
{ECO:0000269|PubMed:21438139}.
-!- SIMILARITY: Belongs to the CEP41 family. {ECO:0000305}.
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EMBL; AF429308; AAM43959.1; -; mRNA.
EMBL; AF429309; AAM43960.1; -; mRNA.
EMBL; AJ278890; CAC33567.1; -; mRNA.
EMBL; AY186739; AAO31692.1; -; mRNA.
EMBL; AK026098; BAB15359.1; -; mRNA.
EMBL; AK298618; BAG60797.1; -; mRNA.
EMBL; AK314676; BAG37230.1; -; mRNA.
EMBL; AC007938; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471070; EAW83764.1; -; Genomic_DNA.
EMBL; CH236950; EAL24088.1; -; Genomic_DNA.
EMBL; BC056162; AAH56162.1; -; mRNA.
EMBL; AL359617; CAB94886.1; -; mRNA.
CCDS; CCDS5821.1; -. [Q9BYV8-1]
CCDS; CCDS59078.1; -. [Q9BYV8-5]
CCDS; CCDS59079.1; -. [Q9BYV8-2]
CCDS; CCDS59080.1; -. [Q9BYV8-4]
PIR; T50634; T50634.
RefSeq; NP_001244087.1; NM_001257158.1. [Q9BYV8-2]
RefSeq; NP_001244088.1; NM_001257159.1. [Q9BYV8-5]
RefSeq; NP_001244089.1; NM_001257160.1. [Q9BYV8-4]
RefSeq; NP_061188.1; NM_018718.2. [Q9BYV8-1]
UniGene; Hs.368315; -.
UniGene; Hs.732631; -.
ProteinModelPortal; Q9BYV8; -.
SMR; Q9BYV8; -.
BioGrid; 125173; 10.
IntAct; Q9BYV8; 2.
STRING; 9606.ENSP00000223208; -.
iPTMnet; Q9BYV8; -.
PhosphoSitePlus; Q9BYV8; -.
BioMuta; CEP41; -.
DMDM; 56748870; -.
EPD; Q9BYV8; -.
MaxQB; Q9BYV8; -.
PaxDb; Q9BYV8; -.
PeptideAtlas; Q9BYV8; -.
PRIDE; Q9BYV8; -.
Ensembl; ENST00000223208; ENSP00000223208; ENSG00000106477. [Q9BYV8-1]
Ensembl; ENST00000343969; ENSP00000342738; ENSG00000106477. [Q9BYV8-2]
Ensembl; ENST00000489512; ENSP00000417815; ENSG00000106477. [Q9BYV8-4]
Ensembl; ENST00000541543; ENSP00000445888; ENSG00000106477. [Q9BYV8-5]
Ensembl; ENST00000616628; ENSP00000479252; ENSG00000106477. [Q9BYV8-4]
GeneID; 95681; -.
KEGG; hsa:95681; -.
UCSC; uc003vpz.5; human. [Q9BYV8-1]
CTD; 95681; -.
DisGeNET; 95681; -.
EuPathDB; HostDB:ENSG00000106477.18; -.
GeneCards; CEP41; -.
GeneReviews; CEP41; -.
HGNC; HGNC:12370; CEP41.
HPA; HPA024090; -.
MalaCards; CEP41; -.
MIM; 610523; gene.
MIM; 614464; phenotype.
neXtProt; NX_Q9BYV8; -.
OpenTargets; ENSG00000106477; -.
Orphanet; 475; Joubert syndrome.
Orphanet; 220493; Joubert syndrome with ocular defect.
PharmGKB; PA37039; -.
eggNOG; ENOG410IHZ1; Eukaryota.
eggNOG; ENOG410XRR4; LUCA.
GeneTree; ENSGT00390000002222; -.
HOGENOM; HOG000252966; -.
HOVERGEN; HBG050896; -.
InParanoid; Q9BYV8; -.
KO; K16455; -.
OMA; KAEPNTK; -.
OrthoDB; EOG091G0NP4; -.
PhylomeDB; Q9BYV8; -.
TreeFam; TF324682; -.
Reactome; R-HSA-2565942; Regulation of PLK1 Activity at G2/M Transition.
Reactome; R-HSA-380259; Loss of Nlp from mitotic centrosomes.
Reactome; R-HSA-380270; Recruitment of mitotic centrosome proteins and complexes.
Reactome; R-HSA-380284; Loss of proteins required for interphase microtubule organization from the centrosome.
Reactome; R-HSA-380320; Recruitment of NuMA to mitotic centrosomes.
Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
Reactome; R-HSA-8854518; AURKA Activation by TPX2.
GenomeRNAi; 95681; -.
PRO; PR:Q9BYV8; -.
Proteomes; UP000005640; Chromosome 7.
Bgee; ENSG00000106477; -.
CleanEx; HS_TSGA14; -.
ExpressionAtlas; Q9BYV8; baseline and differential.
Genevisible; Q9BYV8; HS.
GO; GO:0005814; C:centriole; IDA:UniProtKB.
GO; GO:0005813; C:centrosome; IDA:UniProtKB.
GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
GO; GO:0005929; C:cilium; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0016020; C:membrane; IDA:UniProtKB.
GO; GO:0097711; P:ciliary basal body-plasma membrane docking; TAS:Reactome.
GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
GO; GO:0000086; P:G2/M transition of mitotic cell cycle; TAS:Reactome.
GO; GO:0018095; P:protein polyglutamylation; ISS:UniProtKB.
GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
GO; GO:0010389; P:regulation of G2/M transition of mitotic cell cycle; TAS:Reactome.
Gene3D; 3.40.250.10; -; 1.
InterPro; IPR001763; Rhodanese-like_dom.
InterPro; IPR036873; Rhodanese-like_dom_sf.
Pfam; PF00581; Rhodanese; 1.
SMART; SM00450; RHOD; 1.
SUPFAM; SSF52821; SSF52821; 1.
PROSITE; PS50206; RHODANESE_3; 1.
1: Evidence at protein level;
Alternative splicing; Autism; Autism spectrum disorder;
Cell projection; Ciliopathy; Cilium; Cilium biogenesis/degradation;
Complete proteome; Cytoplasm; Cytoskeleton; Joubert syndrome;
Methylation; Phosphoprotein; Polymorphism; Protein transport;
Reference proteome; Transport.
CHAIN 1 373 Centrosomal protein of 41 kDa.
/FTId=PRO_0000089489.
DOMAIN 169 266 Rhodanese. {ECO:0000255|PROSITE-
ProRule:PRU00173}.
MOD_RES 96 96 Phosphoserine.
{ECO:0000250|UniProtKB:Q99NF3}.
MOD_RES 99 99 Phosphoserine.
{ECO:0000250|UniProtKB:Q99NF3}.
MOD_RES 109 109 Phosphothreonine.
{ECO:0000250|UniProtKB:Q99NF3}.
MOD_RES 121 121 Phosphoserine.
{ECO:0000250|UniProtKB:Q99NF3}.
MOD_RES 343 343 Omega-N-methylarginine.
{ECO:0000250|UniProtKB:Q99NF3}.
VAR_SEQ 1 238 Missing (in isoform 3).
{ECO:0000303|Ref.3}.
/FTId=VSP_012245.
VAR_SEQ 33 49 GNSMTKYTEKLEEIKKN -> D (in isoform 5).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_042579.
VAR_SEQ 34 54 NSMTKYTEKLEEIKKNYRYKK -> ACVYLTSSPALPDCAM
NGLCF (in isoform 4).
{ECO:0000303|PubMed:12034494}.
/FTId=VSP_012246.
VAR_SEQ 55 373 Missing (in isoform 4).
{ECO:0000303|PubMed:12034494}.
/FTId=VSP_012247.
VAR_SEQ 254 325 Missing (in isoform 2 and isoform 5).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_012248.
VARIANT 36 36 M -> T (probable disease-associated
mutation found in a patient with Joubert
syndrome; digenic inheritance; the
patient also carries a truncating
mutation in CC2D2A; dbSNP:rs368178632).
{ECO:0000269|PubMed:22246503}.
/FTId=VAR_067053.
VARIANT 89 89 Q -> E (found in a patient with Meckel
syndrome; unknown pathological
significance).
{ECO:0000269|PubMed:22246503}.
/FTId=VAR_067054.
VARIANT 179 179 R -> H (probable disease-associated
mutation found in a patient with Joubert
syndrome; digenic inheritance; the
patient also carries a truncating
mutation in KIF7; dbSNP:rs140259402).
{ECO:0000269|PubMed:22246503}.
/FTId=VAR_067055.
VARIANT 206 206 P -> A (found in a patient with autism;
unknown pathological significance;
dbSNP:rs143303575).
{ECO:0000269|PubMed:21438139}.
/FTId=VAR_067056.
VARIANT 240 240 C -> G (found in a patient with autism;
unknown pathological significance;
dbSNP:rs113941736).
{ECO:0000269|PubMed:21438139}.
/FTId=VAR_067057.
VARIANT 360 360 R -> C (probable disease-associated
mutation found in a patient with Joubert
syndrome; digenic inheritance; the
patient also carries mutation A-1447 in
CC2D2A; dbSNP:rs371812716).
{ECO:0000269|PubMed:22246503}.
/FTId=VAR_067058.
CONFLICT 170 170 D -> G (in Ref. 4; BAB15359).
{ECO:0000305}.
CONFLICT 279 279 P -> S (in Ref. 9; CAB94886).
{ECO:0000305}.
SEQUENCE 373 AA; 41368 MW; 406F7FA9E8A4EAF8 CRC64;
MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY RYKKDELFKR
LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD PDAETTARTN GKGNPGEQSP
SPEQFINNAG AGDSSRSTLQ SVISGVGELD LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD
RDSYQQCHIV GAYSYPIATL SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC
ERGFENLFML SGGLKVLAQK FPEGLITGSL PASCQQALPP GSARKRSSPK GPPLPAENKW
RFTPEDLKKI EYYLEEEQGP ADHPSRLNQA NSSGRESKVP GARSAQNLPG GGPASHSNPR
SLSSGHLQGK PWK


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