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Q96PY6 (NEK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Serine/threonine-protein kinase Nek1

EC=2.7.11.1
Alternative name(s):
Never in mitosis A-related kinase 1
Short name=NimA-related protein kinase 1
Renal carcinoma antigen NY-REN-55
Gene names
Name:NEK1
Synonyms:KIAA1901
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1258 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated in the control of meiosis By similarity. Involved in cilium assembly. Ref.11

Catalytic activity

ATP + a protein = ADP + a phosphoprotein.

Cofactor

Magnesium.

Subunit structure

Binds to SPERT By similarity.

Subcellular location

Nucleus Probable. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity. Note: Associated with the pericentriolar material. Localizes to centrosome during interphase and mitosis By similarity. Ref.11

Tissue specificity

High fetal expression in the brain and kidney. Ref.11

Involvement in disease

Short rib-polydactyly syndrome 2A (SRPS2A) [MIM:263520]: A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect and cystic kidneys. The radiographic hallmarks include shortened and horizontal ribs, squared scapulae and elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length.
Note: The disease is caused by mutations affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (short rib-polydactyly syndrome 2A/B) (Ref.11). Ref.11 Ref.14

Sequence similarities

Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.

Contains 1 protein kinase domain.

Sequence caution

The sequence AAH15147.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAB15207.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB55209.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB67794.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processCell cycle
Cell division
Cilium biogenesis/degradation
Mitosis
   Cellular componentCytoplasm
Cytoskeleton
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
   LigandATP-binding
Magnesium
Metal-binding
Nucleotide-binding
   Molecular functionKinase
Serine/threonine-protein kinase
Transferase
Tyrosine-protein kinase
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular response to DNA damage stimulus

Inferred from electronic annotation. Source: Ensembl

cilium assembly

Inferred from mutant phenotype Ref.11. Source: UniProtKB

mitosis

Inferred from electronic annotation. Source: UniProtKB-KW

response to ionizing radiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcentrosome

Inferred from direct assay PubMed 21399614. Source: UniProtKB

cytoplasm

Inferred from direct assay PubMed 15604234. Source: MGI

nucleus

Inferred from direct assay PubMed 15604234. Source: MGI

pericentriolar material

Inferred from direct assay Ref.11. Source: UniProtKB

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein kinase activity

Inferred from direct assay PubMed 15604234. Source: MGI

protein serine/threonine kinase activity

Inferred from electronic annotation. Source: UniProtKB-KW

protein tyrosine kinase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96PY6-1)

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: Q96PY6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     478-521: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96PY6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     555-555: M → MGILQNLAAMYGGRPSSSRGGKPRNKEEE
Note: No experimental confirmation available.
Isoform 4 (identifier: Q96PY6-4)

The sequence of this isoform differs from the canonical sequence as follows:
     398-422: Missing.
     477-520: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q96PY6-5)

The sequence of this isoform differs from the canonical sequence as follows:
     522-527: QKGQLA → LDCDDP
     528-1258: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q96PY6-6)

The sequence of this isoform differs from the canonical sequence as follows:
     477-520: Missing.
     555-555: M → MGILQNLAAMYGGRPSSSRGGKPRNKEEE
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12581258Serine/threonine-protein kinase Nek1
PRO_0000086418

Regions

Domain4 – 258255Protein kinase
Nucleotide binding10 – 189ATP By similarity

Sites

Active site1281Proton acceptor By similarity
Binding site331ATP By similarity

Amino acid modifications

Modified residue1621Phosphothreonine; by autocatalysis By similarity
Modified residue4141Phosphoserine Ref.10
Modified residue4181Phosphoserine Ref.10
Modified residue4281Phosphoserine Ref.10
Modified residue6531Phosphoserine Ref.10
Modified residue7981Phosphoserine Ref.10
Modified residue8341Phosphoserine Ref.10
Modified residue8681Phosphoserine Ref.10
Modified residue8811Phosphoserine Ref.10

Natural variations

Alternative sequence398 – 42225Missing in isoform 4.
VSP_035435
Alternative sequence477 – 52044Missing in isoform 4 and isoform 6.
VSP_035436
Alternative sequence478 – 52144Missing in isoform 2.
VSP_004870
Alternative sequence522 – 5276QKGQLA → LDCDDP in isoform 5.
VSP_035437
Alternative sequence528 – 1258731Missing in isoform 5.
VSP_035438
Alternative sequence5551M → MGILQNLAAMYGGRPSSSRG GKPRNKEEE in isoform 3 and isoform 6.
VSP_035439
Natural variant101I → F. Ref.13
Corresponds to variant rs34214559 [ dbSNP | Ensembl ].
VAR_040900
Natural variant251E → K in a lung large cell carcinoma sample; somatic mutation. Ref.13
VAR_040901
Natural variant761L → V. Ref.13
Corresponds to variant rs35093214 [ dbSNP | Ensembl ].
VAR_040902
Natural variant1451G → R in SRPS2A. Ref.14
VAR_069617
Natural variant2531L → S in SRPS2A. Ref.14
VAR_069618
Natural variant2941A → P in a lung adenocarcinoma sample; somatic mutation. Ref.13
VAR_040903
Natural variant3551R → G. Ref.13
Corresponds to variant rs35763578 [ dbSNP | Ensembl ].
VAR_040904
Natural variant4631A → V. Ref.13
Corresponds to variant rs34540355 [ dbSNP | Ensembl ].
VAR_040905
Natural variant5981A → T. Ref.13
Corresponds to variant rs33933790 [ dbSNP | Ensembl ].
VAR_046486
Natural variant7171N → K.
Corresponds to variant rs34324114 [ dbSNP | Ensembl ].
VAR_061743
Natural variant7241E → G. Ref.2 Ref.13
Corresponds to variant rs34099167 [ dbSNP | Ensembl ].
VAR_051651
Natural variant7451K → N. Ref.13
VAR_040906
Natural variant8831Q → E. Ref.13
Corresponds to variant rs6828134 [ dbSNP | Ensembl ].
VAR_046488
Natural variant11801D → N. Ref.13
Corresponds to variant rs35503975 [ dbSNP | Ensembl ].
VAR_046489

Experimental info

Sequence conflict2501N → D in CAI45943. Ref.2
Sequence conflict6021R → RK in CAI45943. Ref.2
Sequence conflict12321G → E in AAD42879. Ref.7

Secondary structure

............................................. 1258
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 13, 2002. Version 2.
Checksum: 339C4BFA56612530

FASTA1,258142,828
        10         20         30         40         50         60 
MEKYVRLQKI GEGSFGKAIL VKSTEDGRQY VIKEINISRM SSKEREESRR EVAVLANMKH 

        70         80         90        100        110        120 
PNIVQYRESF EENGSLYIVM DYCEGGDLFK RINAQKGVLF QEDQILDWFV QICLALKHVH 

       130        140        150        160        170        180 
DRKILHRDIK SQNIFLTKDG TVQLGDFGIA RVLNSTVELA RTCIGTPYYL SPEICENKPY 

       190        200        210        220        230        240 
NNKSDIWALG CVLYELCTLK HAFEAGSMKN LVLKIISGSF PPVSLHYSYD LRSLVSQLFK 

       250        260        270        280        290        300 
RNPRDRPSVN SILEKGFIAK RIEKFLSPQL IAEEFCLKTF SKFGSQPIPA KRPASGQNSI 

       310        320        330        340        350        360 
SVMPAQKITK PAAKYGIPLA YKKYGDKKLH EKKPLQKHKQ AHQTPEKRVN TGEERRKISE 

       370        380        390        400        410        420 
EAARKRRLEF IEKEKKQKDQ IISLMKAEQM KRQEKERLER INRAREQGWR NVLSAGGSGE 

       430        440        450        460        470        480 
VKAPFLGSGG TIAPSSFSSR GQYEHYHAIF DQMQQQRAED NEAKWKREIY GRGLPERGIL 

       490        500        510        520        530        540 
PGVRPGFPYG AAGHHHFPDA DDIRKTLKRL KAVSKQANAN RQKGQLAVER AKQVEEFLQR 

       550        560        570        580        590        600 
KREAMQNKAR AEGHMVYLAR LRQIRLQNFN ERQQIKAKLR GEKKEANHSE GQEGSEEADM 

       610        620        630        640        650        660 
RRKKIESLKA HANARAAVLK EQLERKRKEA YEREKKVWEE HLVAKGVKSS DVSPPLGQHE 

       670        680        690        700        710        720 
TGGSPSKQQM RSVISVTSAL KEVGVDSSLT DTRETSEEMQ KTNNAISSKR EILRRLNENL 

       730        740        750        760        770        780 
KAQEDEKGKQ NLSDTFEINV HEDAKEHEKE KSVSSDRKKW EAGGQLVIPL DELTLDTSFS 

       790        800        810        820        830        840 
TTERHTVGEV IKLGPNGSPR RAWGKSPTDS VLKILGEAEL QLQTELLENT TIRSEISPEG 

       850        860        870        880        890        900 
EKYKPLITGE KKVQCISHEI NPSAIVDSPV ETKSPEFSEA SPQMSLKLEG NLEEPDDLET 

       910        920        930        940        950        960 
EILQEPSGTN KDESLPCTIT DVWISEEKET KETQSADRIT IQENEVSEDG VSSTVDQLSD 

       970        980        990       1000       1010       1020 
IHIEPGTNDS QHSKCDVDKS VQPEPFFHKV VHSEHLNLVP QVQSVQCSPE ESFAFRSHSH 

      1030       1040       1050       1060       1070       1080 
LPPKNKNKNS LLIGLSTGLF DANNPKMLRT CSLPDLSKLF RTLMDVPTVG DVRQDNLEID 

      1090       1100       1110       1120       1130       1140 
EIEDENIKEG PSDSEDIVFE ETDTDLQELQ ASMEQLLREQ PGEEYSEEEE SVLKNSDVEP 

      1150       1160       1170       1180       1190       1200 
TANGTDVADE DDNPSSESAL NEEWHSDNSD GEIASECECD SVFNHLEELR LHLEQEMGFE 

      1210       1220       1230       1240       1250 
KFFEVYEKIK AIHEDEDENI EICSKIVQNI LGNEHQHLYA KILHLVMADG AYQEDNDE 

« Hide

Isoform 2 [UniParc].

Checksum: 347246AED3D9FD79
Show »

FASTA1,214138,068
Isoform 3 [UniParc].

Checksum: F94B3F9C0666059D
Show »

FASTA1,286145,814
Isoform 4 [UniParc].

Checksum: CAE13631DC2A2151
Show »

FASTA1,189135,303
Isoform 5 [UniParc].

Checksum: 47E0707A533EE57C
Show »

FASTA52760,250
Isoform 6 [UniParc].

Checksum: 5CB4B464CF15573C
Show »

FASTA1,242141,053

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
Nagase T., Kikuno R., Ohara O.
DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"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] (ISOFORM 3), VARIANT GLY-724.
Tissue: Uterus.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]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. expand/collapse author list , 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].
[5]"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 4).
Tissue: Bone marrow and Brain.
[6]"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. expand/collapse author list , 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] OF 91-1258 (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 865-1258.
[7]"Antigens recognized by autologous antibody in patients with renal-cell carcinoma."
Scanlan M.J., Gordan J.D., Williamson B., Stockert E., Bander N.H., Jongeneel C.V., Gure A.O., Jaeger D., Jaeger E., Knuth A., Chen Y.-T., Old L.J.
Int. J. Cancer 83:456-464(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 444-1258 (ISOFORM 2), IDENTIFICATION AS A RENAL CANCER ANTIGEN.
Tissue: Renal cell carcinoma.
[8]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414; SER-418; SER-428; SER-653; SER-798; SER-834; SER-868 AND SER-881, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"NEK1 mutations cause short-rib polydactyly syndrome type majewski."
Thiel C., Kessler K., Giessl A., Dimmler A., Shalev S.A., von der Haar S., Zenker M., Zahnleiter D., Stoess H., Beinder E., Abou Jamra R., Ekici A.B., Schroeder-Kress N., Aigner T., Kirchner T., Reis A., Brandstaetter J.H., Rauch A.
Am. J. Hum. Genet. 88:106-114(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN SRPS2A, DIGENIC INHERITANCE.
[12]"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].
[13]"Patterns of somatic mutation in human cancer genomes."
Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. expand/collapse author list , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PHE-10; LYS-25; VAL-76; PRO-294; GLY-355; VAL-463; THR-598; GLY-724; ASN-745; GLU-883 AND ASN-1180.
[14]"NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases."
El Hokayem J., Huber C., Couve A., Aziza J., Baujat G., Bouvier R., Cavalcanti D.P., Collins F.A., Cordier M.P., Delezoide A.L., Gonzales M., Johnson D., Le Merrer M., Levy-Mozziconacci A., Loget P., Martin-Coignard D., Martinovic J., Mortier G.R. expand/collapse author list , Perez M.J., Roume J., Scarano G., Munnich A., Cormier-Daire V.
J. Med. Genet. 49:227-233(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SRPS2A ARG-145 AND SER-253.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB067488 mRNA. Translation: BAB67794.1. Different initiation.
CR933642 mRNA. Translation: CAI45943.1.
AC116615 Genomic DNA. No translation available.
AC116621 Genomic DNA. No translation available.
AC084724 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04791.1.
BC015147 mRNA. Translation: AAH15147.1. Sequence problems.
BC037790 mRNA. Translation: AAH37790.1.
BC114491 mRNA. Translation: AAI14492.1.
AK025658 mRNA. Translation: BAB15207.1. Different initiation.
AK027580 mRNA. Translation: BAB55209.1. Different initiation.
AF155113 mRNA. Translation: AAD42879.1.
RefSeqNP_001186326.1. NM_001199397.1.
NP_001186327.1. NM_001199398.1.
NP_001186328.1. NM_001199399.1.
NP_001186329.1. NM_001199400.1.
NP_036356.1. NM_012224.2.
UniGeneHs.481181.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4APCX-ray2.10A/B1-328[»]
4B9DX-ray1.90A/B1-328[»]
ProteinModelPortalQ96PY6.
SMRQ96PY6. Positions 1-315.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110825. 14 interactions.
IntActQ96PY6. 13 interactions.
STRING9606.ENSP00000408020.

Chemistry

BindingDBQ96PY6.
ChEMBLCHEMBL5855.
GuidetoPHARMACOLOGY2114.

PTM databases

PhosphoSiteQ96PY6.

Polymorphism databases

DMDM22256934.

Proteomic databases

PaxDbQ96PY6.
PRIDEQ96PY6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000439128; ENSP00000408020; ENSG00000137601. [Q96PY6-1]
ENST00000507142; ENSP00000424757; ENSG00000137601. [Q96PY6-3]
ENST00000510533; ENSP00000427653; ENSG00000137601. [Q96PY6-2]
ENST00000511633; ENSP00000423332; ENSG00000137601. [Q96PY6-6]
ENST00000512193; ENSP00000424938; ENSG00000137601. [Q96PY6-4]
GeneID4750.
KEGGhsa:4750.
UCSCuc003isb.2. human. [Q96PY6-1]
uc003isc.2. human. [Q96PY6-2]
uc003isd.2. human. [Q96PY6-3]
uc003isf.2. human. [Q96PY6-4]
uc003isg.1. human. [Q96PY6-5]

Organism-specific databases

CTD4750.
GeneCardsGC04M170314.
HGNCHGNC:7744. NEK1.
HPAHPA020873.
HPA040413.
MIM263520. phenotype.
604588. gene.
neXtProtNX_Q96PY6.
Orphanet93269. Short rib-polydactyly syndrome, Majewski type.
PharmGKBPA31545.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0515.
HOVERGENHBG006460.
KOK08857.
OMAIAEEFCL.
OrthoDBEOG7D59P5.
PhylomeDBQ96PY6.
TreeFamTF333575.

Enzyme and pathway databases

SignaLinkQ96PY6.

Gene expression databases

ArrayExpressQ96PY6.
BgeeQ96PY6.
CleanExHS_NEK1.
GenevestigatorQ96PY6.

Family and domain databases

InterProIPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR002290. Ser/Thr_dual-sp_kinase_dom.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view]
PfamPF00069. Pkinase. 1 hit.
[Graphical view]
SMARTSM00220. S_TKc. 1 hit.
[Graphical view]
SUPFAMSSF56112. SSF56112. 1 hit.
PROSITEPS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNEK1.
GenomeRNAi4750.
NextBio18306.
PROQ96PY6.
SOURCESearch...

Entry information

Entry nameNEK1_HUMAN
AccessionPrimary (citable) accession number: Q96PY6
Secondary accession number(s): G5E9Z3 expand/collapse secondary AC list , Q05DG5, Q14CB7, Q5H9T1, Q6PIB8, Q96SS2, Q9H6P7, Q9Y594
Entry history
Integrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: August 13, 2002
Last modified: April 16, 2014
This is version 128 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM