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Q9BYV8

- CEP41_HUMAN

UniProt

Q9BYV8 - CEP41_HUMAN

Protein

Centrosomal protein of 41 kDa

Gene

CEP41

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. G2/M transition of mitotic cell cycle Source: Reactome
    3. mitotic cell cycle Source: Reactome
    4. protein polyglutamylation Source: UniProtKB
    5. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Centrosomal protein of 41 kDa
    Short name:
    Cep41
    Alternative name(s):
    Testis-specific gene A14 protein
    Gene namesi
    Name:CEP41
    Synonyms:TSGA14
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:12370. CEP41.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell projectioncilium. Cytoplasmcytoskeletoncilium basal body
    Note: Localizes mainly to the cilium basal body and in primary cilia.

    GO - Cellular componenti

    1. centriole Source: UniProtKB
    2. centrosome Source: UniProtKB
    3. ciliary basal body Source: UniProtKB
    4. cytosol Source: Reactome
    5. membrane Source: UniProtKB
    6. primary cilium Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Genetic variations in CEP41 may be associated with susceptibility to autism.

    Keywords - Diseasei

    Ciliopathy, Joubert syndrome

    Organism-specific databases

    MIMi614464. phenotype.
    Orphaneti475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    PharmGKBiPA37039.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 373373Centrosomal protein of 41 kDaPRO_0000089489Add
    BLAST

    Proteomic databases

    MaxQBiQ9BYV8.
    PaxDbiQ9BYV8.
    PRIDEiQ9BYV8.

    PTM databases

    PhosphoSiteiQ9BYV8.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 4 are expressed in testis and fetal tissues.1 Publication

    Gene expression databases

    ArrayExpressiQ9BYV8.
    BgeeiQ9BYV8.
    CleanExiHS_TSGA14.
    GenevestigatoriQ9BYV8.

    Organism-specific databases

    HPAiHPA024090.

    Interactioni

    Subunit structurei

    Found in a complex with TTLL6.

    Protein-protein interaction databases

    BioGridi125173. 1 interaction.
    STRINGi9606.ENSP00000223208.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BYV8.
    SMRiQ9BYV8. Positions 173-260.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini169 – 26698RhodanesePROSITE-ProRule annotationAdd
    BLAST

    Domaini

    Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive.1 Publication

    Sequence similaritiesi

    Belongs to the CEP41 family.Curated
    Contains 1 rhodanese domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG47422.
    HOGENOMiHOG000252966.
    HOVERGENiHBG050896.
    InParanoidiQ9BYV8.
    KOiK16455.
    OMAiRLEDNDS.
    PhylomeDBiQ9BYV8.
    TreeFamiTF324682.

    Family and domain databases

    Gene3Di3.40.250.10. 1 hit.
    InterProiIPR001763. Rhodanese-like_dom.
    [Graphical view]
    PfamiPF00581. Rhodanese. 1 hit.
    [Graphical view]
    SMARTiSM00450. RHOD. 1 hit.
    [Graphical view]
    SUPFAMiSSF52821. SSF52821. 1 hit.
    PROSITEiPS50206. RHODANESE_3. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BYV8-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY    50
    RYKKDELFKR LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD 100
    PDAETTARTN GKGNPGEQSP SPEQFINNAG AGDSSRSTLQ SVISGVGELD 150
    LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD RDSYQQCHIV GAYSYPIATL 200
    SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC ERGFENLFML 250
    SGGLKVLAQK FPEGLITGSL PASCQQALPP GSARKRSSPK GPPLPAENKW 300
    RFTPEDLKKI EYYLEEEQGP ADHPSRLNQA NSSGRESKVP GARSAQNLPG 350
    GGPASHSNPR SLSSGHLQGK PWK 373
    Length:373
    Mass (Da):41,368
    Last modified:June 1, 2001 - v1
    Checksum:i406F7FA9E8A4EAF8
    GO
    Isoform 2 (identifier: Q9BYV8-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:301
    Mass (Da):33,459
    Checksum:i708B91138A9EAF0A
    GO
    Isoform 3 (identifier: Q9BYV8-3) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:135
    Mass (Da):14,544
    Checksum:i6AB16C4A014E74F5
    GO
    Isoform 4 (identifier: Q9BYV8-4) [UniParc]FASTAAdd to Basket

    Also known as: S-type

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

    Show »
    Length:54
    Mass (Da):6,165
    Checksum:iB262112EAF393402
    GO
    Isoform 5 (identifier: Q9BYV8-5) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:285
    Mass (Da):31,579
    Checksum:iCA767ECB6A538A43
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti170 – 1701D → G in BAB15359. (PubMed:14702039)Curated
    Sequence conflicti279 – 2791P → S in CAB94886. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361M → T Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in CC2D2A. 1 Publication
    VAR_067053
    Natural varianti89 – 891Q → E Found in a patient with Meckel syndrome; unknown pathological significance. 1 Publication
    VAR_067054
    Natural varianti179 – 1791R → H Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in KIF7. 1 Publication
    Corresponds to variant rs140259402 [ dbSNP | Ensembl ].
    VAR_067055
    Natural varianti206 – 2061P → A Found in a patient with autism; unknown pathological significance. 1 Publication
    Corresponds to variant rs143303575 [ dbSNP | Ensembl ].
    VAR_067056
    Natural varianti240 – 2401C → G Found in a patient with autism; unknown pathological significance. 1 Publication
    Corresponds to variant rs113941736 [ dbSNP | Ensembl ].
    VAR_067057
    Natural varianti360 – 3601R → C Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries mutation A-1447 in CC2D2A. 1 Publication
    VAR_067058

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 238238Missing in isoform 3. 1 PublicationVSP_012245Add
    BLAST
    Alternative sequencei33 – 4917GNSMT…EIKKN → D in isoform 5. 1 PublicationVSP_042579Add
    BLAST
    Alternative sequencei34 – 5421NSMTK…YRYKK → ACVYLTSSPALPDCAMNGLC F in isoform 4. 1 PublicationVSP_012246Add
    BLAST
    Alternative sequencei55 – 373319Missing in isoform 4. 1 PublicationVSP_012247Add
    BLAST
    Alternative sequencei254 – 32572Missing in isoform 2 and isoform 5. 2 PublicationsVSP_012248Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS5821.1. [Q9BYV8-1]
    CCDS59078.1. [Q9BYV8-5]
    CCDS59079.1. [Q9BYV8-2]
    CCDS59080.1. [Q9BYV8-4]
    PIRiT50634.
    RefSeqiNP_001244087.1. NM_001257158.1. [Q9BYV8-2]
    NP_001244088.1. NM_001257159.1. [Q9BYV8-5]
    NP_001244089.1. NM_001257160.1. [Q9BYV8-4]
    NP_061188.1. NM_018718.2. [Q9BYV8-1]
    UniGeneiHs.368315.

    Genome annotation databases

    EnsembliENST00000223208; ENSP00000223208; ENSG00000106477. [Q9BYV8-1]
    ENST00000343969; ENSP00000342738; ENSG00000106477. [Q9BYV8-2]
    ENST00000489512; ENSP00000417815; ENSG00000106477. [Q9BYV8-4]
    ENST00000541543; ENSP00000445888; ENSG00000106477. [Q9BYV8-5]
    GeneIDi95681.
    KEGGihsa:95681.
    UCSCiuc003vpy.4. human. [Q9BYV8-3]
    uc003vpz.4. human. [Q9BYV8-1]
    uc003vqa.4. human. [Q9BYV8-2]
    uc003vqb.2. human. [Q9BYV8-4]
    uc011kpg.3. human. [Q9BYV8-5]

    Polymorphism databases

    DMDMi56748870.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS5821.1. [Q9BYV8-1 ]
    CCDS59078.1. [Q9BYV8-5 ]
    CCDS59079.1. [Q9BYV8-2 ]
    CCDS59080.1. [Q9BYV8-4 ]
    PIRi T50634.
    RefSeqi NP_001244087.1. NM_001257158.1. [Q9BYV8-2 ]
    NP_001244088.1. NM_001257159.1. [Q9BYV8-5 ]
    NP_001244089.1. NM_001257160.1. [Q9BYV8-4 ]
    NP_061188.1. NM_018718.2. [Q9BYV8-1 ]
    UniGenei Hs.368315.

    3D structure databases

    ProteinModelPortali Q9BYV8.
    SMRi Q9BYV8. Positions 173-260.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125173. 1 interaction.
    STRINGi 9606.ENSP00000223208.

    PTM databases

    PhosphoSitei Q9BYV8.

    Polymorphism databases

    DMDMi 56748870.

    Proteomic databases

    MaxQBi Q9BYV8.
    PaxDbi Q9BYV8.
    PRIDEi Q9BYV8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000223208 ; ENSP00000223208 ; ENSG00000106477 . [Q9BYV8-1 ]
    ENST00000343969 ; ENSP00000342738 ; ENSG00000106477 . [Q9BYV8-2 ]
    ENST00000489512 ; ENSP00000417815 ; ENSG00000106477 . [Q9BYV8-4 ]
    ENST00000541543 ; ENSP00000445888 ; ENSG00000106477 . [Q9BYV8-5 ]
    GeneIDi 95681.
    KEGGi hsa:95681.
    UCSCi uc003vpy.4. human. [Q9BYV8-3 ]
    uc003vpz.4. human. [Q9BYV8-1 ]
    uc003vqa.4. human. [Q9BYV8-2 ]
    uc003vqb.2. human. [Q9BYV8-4 ]
    uc011kpg.3. human. [Q9BYV8-5 ]

    Organism-specific databases

    CTDi 95681.
    GeneCardsi GC07M130038.
    GeneReviewsi CEP41.
    HGNCi HGNC:12370. CEP41.
    HPAi HPA024090.
    MIMi 610523. gene.
    614464. phenotype.
    neXtProti NX_Q9BYV8.
    Orphaneti 475. Joubert syndrome.
    220493. Joubert syndrome with ocular defect.
    PharmGKBi PA37039.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47422.
    HOGENOMi HOG000252966.
    HOVERGENi HBG050896.
    InParanoidi Q9BYV8.
    KOi K16455.
    OMAi RLEDNDS.
    PhylomeDBi Q9BYV8.
    TreeFami TF324682.

    Enzyme and pathway databases

    Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    Miscellaneous databases

    GenomeRNAii 95681.
    NextBioi 78540.
    PROi Q9BYV8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BYV8.
    Bgeei Q9BYV8.
    CleanExi HS_TSGA14.
    Genevestigatori Q9BYV8.

    Family and domain databases

    Gene3Di 3.40.250.10. 1 hit.
    InterProi IPR001763. Rhodanese-like_dom.
    [Graphical view ]
    Pfami PF00581. Rhodanese. 1 hit.
    [Graphical view ]
    SMARTi SM00450. RHOD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52821. SSF52821. 1 hit.
    PROSITEi PS50206. RHODANESE_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. 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: 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. Cited for: POSSIBLE INVOLVEMENT IN AUTISM, VARIANTS ALA-206 AND GLY-240.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN JBTS15, INTERACTION WITH TTLL6, VARIANTS THR-36; GLU-89; HIS-179 AND CYS-360.

    Entry informationi

    Entry nameiCEP41_HUMAN
    AccessioniPrimary (citable) accession number: Q9BYV8
    Secondary accession number(s): A4D1M0
    , B4DQ35, F5H0V6, Q7Z496, Q86TM1, Q8NFU8, Q9H6A3, Q9NPV3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 21, 2004
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 111 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3