Q9BYV8 (CEP41_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Centrosomal protein of 41 kDa
Short name=Cep41

Alternative name(s):
Testis-specific gene A14 protein

Gene names

Name:	CEP41
Synonyms:	TSGA14

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	373 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating to the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium. Ref.14
Subunit structure	Found in a complex with TTLL6.
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Cell projection › cilium. Cytoplasm › cytoskeleton › cilium basal body. Note: Localizes mainly to the cilium basal body and in primary cilia. Ref.10 Ref.14
Tissue specificity	Isoform 1 and isoform 4 are expressed in testis and fetal tissues. Ref.1
Domain	Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive (Ref.14).
Involvement in 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Genetic variations in CEP41 may be associated with susceptibility to autism.
Sequence similarities	Belongs to the CEP41 family. Contains 1 rhodanese domain.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation Protein transport Transport
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Joubert syndrome
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome cilium assembly Inferred from mutant phenotype Ref.14. Source: UniProtKB protein polyglutamylation Inferred from sequence or structural similarity. Source: UniProtKB protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	centriole Inferred from direct assay Ref.14. Source: UniProtKB cilium basal body Inferred from direct assay Ref.14. Source: UniProtKB cytosol Traceable author statement. Source: Reactome primary cilium Inferred from direct assay Ref.14. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BYV8-1)

Also known as: L-type;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9BYV8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     254-325: Missing.

Isoform 3 (identifier: Q9BYV8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-238: Missing.

Isoform 4 (identifier: Q9BYV8-4)

Also known as: S-type;

The sequence of this isoform differs from the canonical sequence as follows:
     34-54: NSMTKYTEKLEEIKKNYRYKK → ACVYLTSSPALPDCAMNGLCF
     55-373: Missing.

Isoform 5 (identifier: Q9BYV8-5)

The sequence of this isoform differs from the canonical sequence as follows:
     33-49: GNSMTKYTEKLEEIKKN → D
     254-325: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 373	373	Centrosomal protein of 41 kDa		PRO_0000089489
Regions
	Domain	169 – 266	98	Rhodanese
Amino acid modifications
	Modified residue	99	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 238	238	Missing in isoform 3.		VSP_012245
	Alternative sequence	33 – 49	17	GNSMT…EIKKN → D in isoform 5.		VSP_042579
	Alternative sequence	34 – 54	21	NSMTK…YRYKK → ACVYLTSSPALPDCAMNGLC F in isoform 4.		VSP_012246
	Alternative sequence	55 – 373	319	Missing in isoform 4.		VSP_012247
	Alternative sequence	254 – 325	72	Missing in isoform 2 and isoform 5.		VSP_012248
	Natural variant	36	1	M → T Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in CC2D2A. Ref.14		VAR_067053
	Natural variant	89	1	Q → E Found in a patient with Meckel syndrome; unknown pathological significance. Ref.14		VAR_067054
	Natural variant	179	1	R → H Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in KIF7. Ref.14 Corresponds to variant rs140259402 [ dbSNP | Ensembl ].		VAR_067055
	Natural variant	206	1	P → A Found in a patient with autism; unknown pathological significance. Ref.12 Corresponds to variant rs143303575 [ dbSNP | Ensembl ].		VAR_067056
	Natural variant	240	1	C → G Found in a patient with autism; unknown pathological significance. Ref.12 Corresponds to variant rs113941736 [ dbSNP | Ensembl ].		VAR_067057
	Natural variant	360	1	R → C Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries mutation A-1447 in CC2D2A. Ref.14		VAR_067058
Experimental info
	Sequence conflict	170	1	D → G in BAB15359. Ref.4
	Sequence conflict	279	1	P → S in CAB94886. Ref.9

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (L-type) [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 406F7FA9E8A4EAF8	FASTA	373	41,368
	10 20 30 40 50 60 MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY RYKKDELFKR 70 80 90 100 110 120 LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD PDAETTARTN GKGNPGEQSP 130 140 150 160 170 180 SPEQFINNAG AGDSSRSTLQ SVISGVGELD LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD 190 200 210 220 230 240 RDSYQQCHIV GAYSYPIATL SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC 250 260 270 280 290 300 ERGFENLFML SGGLKVLAQK FPEGLITGSL PASCQQALPP GSARKRSSPK GPPLPAENKW 310 320 330 340 350 360 RFTPEDLKKI EYYLEEEQGP ADHPSRLNQA NSSGRESKVP GARSAQNLPG GGPASHSNPR 370 SLSSGHLQGK PWK
	Isoform 2 [UniParc]. Checksum: 708B91138A9EAF0A	FASTA	301	33,459
	10 20 30 40 50 60 MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY RYKKDELFKR 70 80 90 100 110 120 LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD PDAETTARTN GKGNPGEQSP 130 140 150 160 170 180 SPEQFINNAG AGDSSRSTLQ SVISGVGELD LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD 190 200 210 220 230 240 RDSYQQCHIV GAYSYPIATL SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC 250 260 270 280 290 300 ERGFENLFML SGGRLNQANS SGRESKVPGA RSAQNLPGGG PASHSNPRSL SSGHLQGKPW K
	Isoform 3 [UniParc]. Checksum: 6AB16C4A014E74F5	FASTA	135	14,544
	10 20 30 40 50 60 MCERGFENLF MLSGGLKVLA QKFPEGLITG SLPASCQQAL PPGSARKRSS PKGPPLPAEN 70 80 90 100 110 120 KWRFTPEDLK KIEYYLEEEQ GPADHPSRLN QANSSGRESK VPGARSAQNL PGGGPASHSN 130 PRSLSSGHLQ GKPWK
	Isoform 4 (S-type) [UniParc]. Checksum: B262112EAF393402	FASTA	54	6,165
	10 20 30 40 50 MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGACVYLTS SPALPDCAMN GLCF
	Isoform 5 [UniParc]. Checksum: CA767ECB6A538A43	FASTA	285	31,579
	10 20 30 40 50 60 MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTDYRYKKDE LFKRLKVTTF AQLIIQVASL 70 80 90 100 110 120 SDQTLEVTAE EIQRLEDNDS AASDPDAETT ARTNGKGNPG EQSPSPEQFI NNAGAGDSSR 130 140 150 160 170 180 STLQSVISGV GELDLDKGPV KKAEPHTKDK PYPDCPFLLL DVRDRDSYQQ CHIVGAYSYP 190 200 210 220 230 240 IATLSRTMNP YSNDILEYKN AHGKIIILYD DDERLASQAA TTMCERGFEN LFMLSGGRLN 250 260 270 280 QANSSGRESK VPGARSAQNL PGGGPASHSN PRSLSSGHLQ GKPWK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting." Yamada T., Kayashima T., Yamasaki K., Ohta T., Yoshiura K., Matsumoto N., Fujimoto S., Niikawa N., Kishino T. Gene 288:57-63(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), TISSUE SPECIFICITY.
[2]	"Identification of a testis-specific gene (TSGA14) proximal to the MEST/COPG2 imprinting cluster on chromosome 7." Brunner B., Kalamajka R., Ropers H.-H., Fundele R., Kalscheuer V.M. Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	Xu M., Xu Y.Z., Zhou Z.M., Sha J.H. Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Testis.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5). Tissue: Neuroblastoma, Trachea and Uterus.
[5]	"The DNA sequence of human chromosome 7." 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. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Human chromosome 7: DNA sequence and biology." 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. Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	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 Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Eye.
[9]	"The full-ORF clone resource of the German cDNA consortium." 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. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 153-373 (ISOFORM 1). Tissue: Melanoma.
[10]	"Proteomic characterization of the human centrosome by protein correlation profiling." Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M. Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. Tissue: Lymphoblast.
[11]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell.
[12]	"Mutations in the TSGA14 gene in families with autism spectrum disorders." Korvatska O., Estes A., Munson J., Dawson G., Bekris L.M., Kohen R., Yu C.E., Schellenberg G.D., Raskind W.H. Am. J. Med. Genet. B Neuropsychiatr. Genet. 156:303-311(2011) [PubMed] [Europe PMC] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN AUTISM, VARIANTS ALA-206 AND GLY-240.
[13]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]	"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) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN JBTS15, INTERACTION WITH TTLL6, VARIANTS THR-36; GLU-89; HIS-179 AND CYS-360.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF429308 mRNA. Translation: AAM43959.1. AF429309 mRNA. Translation: AAM43960.1. AJ278890 mRNA. Translation: CAC33567.1. AY186739 mRNA. Translation: AAO31692.1. AK026098 mRNA. Translation: BAB15359.1. AK298618 mRNA. Translation: BAG60797.1. AK314676 mRNA. Translation: BAG37230.1. AC007938 Genomic DNA. No translation available. CH471070 Genomic DNA. Translation: EAW83764.1. CH236950 Genomic DNA. Translation: EAL24088.1. BC056162 mRNA. Translation: AAH56162.1. AL359617 mRNA. Translation: CAB94886.1.
IPI	IPI00019448. IPI00168911. IPI00385062. IPI00514880. IPI01012223.
PIR	T50634.
RefSeq	NP_001244087.1. NM_001257158.1. NP_001244088.1. NM_001257159.1. NP_001244089.1. NM_001257160.1. NP_061188.1. NM_018718.2.
UniGene	Hs.368315.
3D structure databases
ProteinModelPortal	Q9BYV8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000223208.
PTM databases
PhosphoSite	Q9BYV8.
Polymorphism databases
DMDM	56748870.
Proteomic databases
PaxDb	Q9BYV8.
PRIDE	Q9BYV8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000223208; ENSP00000223208; ENSG00000106477. ENST00000343969; ENSP00000342738; ENSG00000106477. ENST00000489512; ENSP00000417815; ENSG00000106477. ENST00000541543; ENSP00000445888; ENSG00000106477. ENST00000577507; ENSP00000463010; ENSG00000265594. ENST00000580443; ENSP00000462740; ENSG00000265594. ENST00000580536; ENSP00000462047; ENSG00000265594. ENST00000583790; ENSP00000462624; ENSG00000265594.
GeneID	95681.
KEGG	hsa:95681.
UCSC	uc003vpy.3. human. uc003vpz.3. human. uc003vqa.3. human.
Organism-specific databases
CTD	95681.
GeneCards	GC07M130038.
HGNC	HGNC:12370. CEP41.
HPA	HPA024090.
MIM	610523. gene. 614464. phenotype.
neXtProt	NX_Q9BYV8.
Orphanet	475. Joubert syndrome. 220493. Joubert syndrome with ocular defect.
PharmGKB	PA37039.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG47422.
HOGENOM	HOG000252966.
HOVERGEN	HBG050896.
InParanoid	Q9BYV8.
KO	K16455.
OMA	ATTMCER.
OrthoDB	EOG46Q6SR.
PhylomeDB	Q9BYV8.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	Q9BYV8.
Bgee	Q9BYV8.
CleanEx	HS_TSGA14.
Genevestigator	Q9BYV8.
GermOnline	ENSG00000106477. Homo sapiens.
Family and domain databases
Gene3D	3.40.250.10. 1 hit.
InterPro	IPR001763. Rhodanese-like_dom. [Graphical view]
Pfam	PF00581. Rhodanese. 1 hit. [Graphical view]
SMART	SM00450. RHOD. 1 hit. [Graphical view]
SUPFAM	SSF52821. Rhodanese-like. 1 hit.
PROSITE	PS50206. RHODANESE_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	95681.
NextBio	78540.
SOURCE	Search...

Entry information

Entry name

CEP41_HUMAN

Accession

Primary (citable) accession number: Q9BYV8
Secondary accession number(s): A4D1M0 , B4DQ35, F5H0V6, Q7Z496, Q86TM1, Q8NFU8, Q9H6A3, Q9NPV3

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 21, 2004
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 96 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.