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Q9BYV8

- CEP41_HUMAN

UniProt

Q9BYV8 - CEP41_HUMAN

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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

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 - 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9BYV8.
CleanExiHS_TSGA14.
ExpressionAtlasiQ9BYV8. baseline and differential.
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.
GeneTreeiENSGT00390000002222.
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

        10         20         30         40         50
MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY
60 70 80 90 100
RYKKDELFKR LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD
110 120 130 140 150
PDAETTARTN GKGNPGEQSP SPEQFINNAG AGDSSRSTLQ SVISGVGELD
160 170 180 190 200
LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD RDSYQQCHIV GAYSYPIATL
210 220 230 240 250
SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC ERGFENLFML
260 270 280 290 300
SGGLKVLAQK FPEGLITGSL PASCQQALPP GSARKRSSPK GPPLPAENKW
310 320 330 340 350
RFTPEDLKKI EYYLEEEQGP ADHPSRLNQA NSSGRESKVP GARSAQNLPG
360 370
GGPASHSNPR SLSSGHLQGK PWK
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:
EMBLi
GenBanki
DDBJi
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]
ENST00000616628; ENSP00000479252; ENSG00000106477. [Q9BYV8-4]
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:
EMBLi
GenBanki
DDBJi
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 ]
ENST00000616628 ; ENSP00000479252 ; ENSG00000106477 . [Q9BYV8-4 ]
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.
GeneTreei ENSGT00390000002222.
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

Bgeei Q9BYV8.
CleanExi HS_TSGA14.
ExpressionAtlasi Q9BYV8. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 112 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