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Q96PY6

- NEK1_HUMAN

UniProt

Q96PY6 - NEK1_HUMAN

Protein

Serine/threonine-protein kinase Nek1

Gene

NEK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 2 (13 Aug 2002)
      Previous versions | rss
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    Functioni

    Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Implicated in the control of meiosis By similarity. Involved in cilium assembly. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death.By similarity2 Publications

    Catalytic activityi

    ATP + a protein = ADP + a phosphoprotein.

    Cofactori

    Magnesium.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei33 – 331ATPPROSITE-ProRule annotation
    Active sitei128 – 1281Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi10 – 189ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW
    3. protein binding Source: IntAct
    4. protein kinase activity Source: MGI
    5. protein serine/threonine kinase activity Source: UniProtKB-KW
    6. protein tyrosine kinase activity Source: UniProtKB-KW

    GO - Biological processi

    1. cellular response to DNA damage stimulus Source: Ensembl
    2. cilium assembly Source: UniProtKB
    3. mitotic nuclear division Source: UniProtKB-KW
    4. response to ionizing radiation Source: Ensembl

    Keywords - Molecular functioni

    Kinase, Serine/threonine-protein kinase, Transferase, Tyrosine-protein kinase

    Keywords - Biological processi

    Cell cycle, Cell division, Cilium biogenesis/degradation, Mitosis

    Keywords - Ligandi

    ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    SignaLinkiQ96PY6.

    Names & Taxonomyi

    Protein namesi
    Recommended 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 namesi
    Name:NEK1
    Synonyms:KIAA1901
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:7744. NEK1.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity
    Note: Associated with the pericentriolar material. Localizes to centrosome during interphase and mitosis By similarity.By similarity

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. cytoplasm Source: MGI
    3. nucleus Source: MGI
    4. pericentriolar material Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. In some cases NEK1 mutations result in disease phenotype in the presence of mutations in DYNC2H1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti145 – 1451G → R in SRTD6. 1 Publication
    VAR_069617
    Natural varianti253 – 2531L → S in SRTD6. 1 Publication
    VAR_069618

    Keywords - Diseasei

    Ciliopathy

    Organism-specific databases

    MIMi263520. phenotype.
    Orphaneti93269. Short rib-polydactyly syndrome, Majewski type.
    PharmGKBiPA31545.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12581258Serine/threonine-protein kinase Nek1PRO_0000086418Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei162 – 1621Phosphothreonine; by autocatalysisBy similarity
    Modified residuei414 – 4141Phosphoserine1 Publication
    Modified residuei418 – 4181Phosphoserine1 Publication
    Modified residuei428 – 4281Phosphoserine1 Publication
    Modified residuei653 – 6531Phosphoserine1 Publication
    Modified residuei798 – 7981Phosphoserine1 Publication
    Modified residuei834 – 8341Phosphoserine1 Publication
    Modified residuei868 – 8681Phosphoserine1 Publication
    Modified residuei881 – 8811Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ96PY6.
    PaxDbiQ96PY6.
    PRIDEiQ96PY6.

    PTM databases

    PhosphoSiteiQ96PY6.

    Expressioni

    Tissue specificityi

    High fetal expression in the brain and kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ96PY6.
    BgeeiQ96PY6.
    CleanExiHS_NEK1.
    GenevestigatoriQ96PY6.

    Organism-specific databases

    HPAiHPA020873.
    HPA040413.

    Interactioni

    Subunit structurei

    Binds to SPERT.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    FEZ1Q996892EBI-373615,EBI-396435
    FEZ2Q9UHY82EBI-373615,EBI-396453
    LRRK2Q5S0072EBI-373615,EBI-5323863

    Protein-protein interaction databases

    BioGridi110825. 14 interactions.
    IntActiQ96PY6. 16 interactions.
    STRINGi9606.ENSP00000408020.

    Structurei

    Secondary structure

    1
    1258
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi4 – 96
    Beta strandi18 – 236
    Turni24 – 263
    Beta strandi29 – 368
    Helixi42 – 5716
    Beta strandi66 – 727
    Beta strandi75 – 817
    Helixi88 – 947
    Turni95 – 973
    Helixi102 – 12120
    Helixi131 – 1333
    Beta strandi134 – 1363
    Beta strandi142 – 1443
    Beta strandi149 – 1513
    Helixi155 – 16410
    Helixi172 – 1754
    Helixi182 – 19817
    Helixi208 – 21710
    Helixi229 – 23810
    Helixi243 – 2453
    Helixi249 – 2535
    Helixi256 – 2594
    Helixi260 – 2645
    Helixi268 – 2758

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4APCX-ray2.10A/B1-328[»]
    4B9DX-ray1.90A/B1-328[»]
    ProteinModelPortaliQ96PY6.
    SMRiQ96PY6. Positions 1-315.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 258255Protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0515.
    HOVERGENiHBG006460.
    KOiK08857.
    OMAiIAEEFCL.
    OrthoDBiEOG7D59P5.
    PhylomeDBiQ96PY6.
    TreeFamiTF333575.

    Family and domain databases

    InterProiIPR011009. 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]
    PfamiPF00069. Pkinase. 1 hit.
    [Graphical view]
    SMARTiSM00220. S_TKc. 1 hit.
    [Graphical view]
    SUPFAMiSSF56112. SSF56112. 1 hit.
    PROSITEiPS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96PY6-1) [UniParc]FASTAAdd to Basket

    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

    MEKYVRLQKI GEGSFGKAIL VKSTEDGRQY VIKEINISRM SSKEREESRR     50
    EVAVLANMKH PNIVQYRESF EENGSLYIVM DYCEGGDLFK RINAQKGVLF 100
    QEDQILDWFV QICLALKHVH DRKILHRDIK SQNIFLTKDG TVQLGDFGIA 150
    RVLNSTVELA RTCIGTPYYL SPEICENKPY NNKSDIWALG CVLYELCTLK 200
    HAFEAGSMKN LVLKIISGSF PPVSLHYSYD LRSLVSQLFK RNPRDRPSVN 250
    SILEKGFIAK RIEKFLSPQL IAEEFCLKTF SKFGSQPIPA KRPASGQNSI 300
    SVMPAQKITK PAAKYGIPLA YKKYGDKKLH EKKPLQKHKQ AHQTPEKRVN 350
    TGEERRKISE EAARKRRLEF IEKEKKQKDQ IISLMKAEQM KRQEKERLER 400
    INRAREQGWR NVLSAGGSGE VKAPFLGSGG TIAPSSFSSR GQYEHYHAIF 450
    DQMQQQRAED NEAKWKREIY GRGLPERGIL PGVRPGFPYG AAGHHHFPDA 500
    DDIRKTLKRL KAVSKQANAN RQKGQLAVER AKQVEEFLQR KREAMQNKAR 550
    AEGHMVYLAR LRQIRLQNFN ERQQIKAKLR GEKKEANHSE GQEGSEEADM 600
    RRKKIESLKA HANARAAVLK EQLERKRKEA YEREKKVWEE HLVAKGVKSS 650
    DVSPPLGQHE TGGSPSKQQM RSVISVTSAL KEVGVDSSLT DTRETSEEMQ 700
    KTNNAISSKR EILRRLNENL KAQEDEKGKQ NLSDTFEINV HEDAKEHEKE 750
    KSVSSDRKKW EAGGQLVIPL DELTLDTSFS TTERHTVGEV IKLGPNGSPR 800
    RAWGKSPTDS VLKILGEAEL QLQTELLENT TIRSEISPEG EKYKPLITGE 850
    KKVQCISHEI NPSAIVDSPV ETKSPEFSEA SPQMSLKLEG NLEEPDDLET 900
    EILQEPSGTN KDESLPCTIT DVWISEEKET KETQSADRIT IQENEVSEDG 950
    VSSTVDQLSD IHIEPGTNDS QHSKCDVDKS VQPEPFFHKV VHSEHLNLVP 1000
    QVQSVQCSPE ESFAFRSHSH LPPKNKNKNS LLIGLSTGLF DANNPKMLRT 1050
    CSLPDLSKLF RTLMDVPTVG DVRQDNLEID EIEDENIKEG PSDSEDIVFE 1100
    ETDTDLQELQ ASMEQLLREQ PGEEYSEEEE SVLKNSDVEP TANGTDVADE 1150
    DDNPSSESAL NEEWHSDNSD GEIASECECD SVFNHLEELR LHLEQEMGFE 1200
    KFFEVYEKIK AIHEDEDENI EICSKIVQNI LGNEHQHLYA KILHLVMADG 1250
    AYQEDNDE 1258
    Length:1,258
    Mass (Da):142,828
    Last modified:August 13, 2002 - v2
    Checksum:i339C4BFA56612530
    GO
    Isoform 2 (identifier: Q96PY6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         478-521: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,214
    Mass (Da):138,068
    Checksum:i347246AED3D9FD79
    GO
    Isoform 3 (identifier: Q96PY6-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         555-555: M → MGILQNLAAMYGGRPSSSRGGKPRNKEEE

    Note: No experimental confirmation available.

    Show »
    Length:1,286
    Mass (Da):145,814
    Checksum:iF94B3F9C0666059D
    GO
    Isoform 4 (identifier: Q96PY6-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         398-422: Missing.
         477-520: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,189
    Mass (Da):135,303
    Checksum:iCAE13631DC2A2151
    GO
    Isoform 5 (identifier: Q96PY6-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         522-527: QKGQLA → LDCDDP
         528-1258: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:527
    Mass (Da):60,250
    Checksum:i47E0707A533EE57C
    GO
    Isoform 6 (identifier: Q96PY6-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         477-520: Missing.
         555-555: M → MGILQNLAAMYGGRPSSSRGGKPRNKEEE

    Note: No experimental confirmation available.

    Show »
    Length:1,242
    Mass (Da):141,053
    Checksum:i5CB4B464CF15573C
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti250 – 2501N → D in CAI45943. (PubMed:17974005)Curated
    Sequence conflicti602 – 6021R → RK in CAI45943. (PubMed:17974005)Curated
    Sequence conflicti1232 – 12321G → E in AAD42879. (PubMed:10508479)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101I → F.1 Publication
    Corresponds to variant rs34214559 [ dbSNP | Ensembl ].
    VAR_040900
    Natural varianti25 – 251E → K in a lung large cell carcinoma sample; somatic mutation. 1 Publication
    VAR_040901
    Natural varianti76 – 761L → V.1 Publication
    Corresponds to variant rs35093214 [ dbSNP | Ensembl ].
    VAR_040902
    Natural varianti145 – 1451G → R in SRTD6. 1 Publication
    VAR_069617
    Natural varianti253 – 2531L → S in SRTD6. 1 Publication
    VAR_069618
    Natural varianti294 – 2941A → P in a lung adenocarcinoma sample; somatic mutation. 1 Publication
    VAR_040903
    Natural varianti355 – 3551R → G.1 Publication
    Corresponds to variant rs35763578 [ dbSNP | Ensembl ].
    VAR_040904
    Natural varianti463 – 4631A → V.1 Publication
    Corresponds to variant rs34540355 [ dbSNP | Ensembl ].
    VAR_040905
    Natural varianti598 – 5981A → T.1 Publication
    Corresponds to variant rs33933790 [ dbSNP | Ensembl ].
    VAR_046486
    Natural varianti717 – 7171N → K.
    Corresponds to variant rs34324114 [ dbSNP | Ensembl ].
    VAR_061743
    Natural varianti724 – 7241E → G.2 Publications
    Corresponds to variant rs34099167 [ dbSNP | Ensembl ].
    VAR_051651
    Natural varianti745 – 7451K → N.1 Publication
    VAR_040906
    Natural varianti883 – 8831Q → E.1 Publication
    Corresponds to variant rs6828134 [ dbSNP | Ensembl ].
    VAR_046488
    Natural varianti1180 – 11801D → N.1 Publication
    Corresponds to variant rs35503975 [ dbSNP | Ensembl ].
    VAR_046489

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei398 – 42225Missing in isoform 4. 1 PublicationVSP_035435Add
    BLAST
    Alternative sequencei477 – 52044Missing in isoform 4 and isoform 6. 1 PublicationVSP_035436Add
    BLAST
    Alternative sequencei478 – 52144Missing in isoform 2. 1 PublicationVSP_004870Add
    BLAST
    Alternative sequencei522 – 5276QKGQLA → LDCDDP in isoform 5. 1 PublicationVSP_035437
    Alternative sequencei528 – 1258731Missing in isoform 5. 1 PublicationVSP_035438Add
    BLAST
    Alternative sequencei555 – 5551M → MGILQNLAAMYGGRPSSSRG GKPRNKEEE in isoform 3 and isoform 6. 1 PublicationVSP_035439

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS47162.1. [Q96PY6-1]
    CCDS56348.1. [Q96PY6-4]
    CCDS56349.1. [Q96PY6-2]
    CCDS56350.1. [Q96PY6-6]
    CCDS56351.1. [Q96PY6-3]
    RefSeqiNP_001186326.1. NM_001199397.1. [Q96PY6-3]
    NP_001186327.1. NM_001199398.1. [Q96PY6-6]
    NP_001186328.1. NM_001199399.1. [Q96PY6-4]
    NP_001186329.1. NM_001199400.1. [Q96PY6-2]
    NP_036356.1. NM_012224.2. [Q96PY6-1]
    UniGeneiHs.481181.

    Genome annotation databases

    EnsembliENST00000439128; ENSP00000408020; ENSG00000137601. [Q96PY6-1]
    ENST00000507142; ENSP00000424757; ENSG00000137601. [Q96PY6-3]
    ENST00000510533; ENSP00000427653; ENSG00000137601. [Q96PY6-2]
    ENST00000511633; ENSP00000423332; ENSG00000137601. [Q96PY6-6]
    ENST00000512193; ENSP00000424938; ENSG00000137601. [Q96PY6-4]
    GeneIDi4750.
    KEGGihsa:4750.
    UCSCiuc003isb.2. human. [Q96PY6-1]
    uc003isc.2. human. [Q96PY6-2]
    uc003isd.2. human. [Q96PY6-3]
    uc003ise.2. human.
    uc003isf.2. human. [Q96PY6-4]
    uc003isg.1. human. [Q96PY6-5]

    Polymorphism databases

    DMDMi22256934.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS47162.1. [Q96PY6-1 ]
    CCDS56348.1. [Q96PY6-4 ]
    CCDS56349.1. [Q96PY6-2 ]
    CCDS56350.1. [Q96PY6-6 ]
    CCDS56351.1. [Q96PY6-3 ]
    RefSeqi NP_001186326.1. NM_001199397.1. [Q96PY6-3 ]
    NP_001186327.1. NM_001199398.1. [Q96PY6-6 ]
    NP_001186328.1. NM_001199399.1. [Q96PY6-4 ]
    NP_001186329.1. NM_001199400.1. [Q96PY6-2 ]
    NP_036356.1. NM_012224.2. [Q96PY6-1 ]
    UniGenei Hs.481181.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4APC X-ray 2.10 A/B 1-328 [» ]
    4B9D X-ray 1.90 A/B 1-328 [» ]
    ProteinModelPortali Q96PY6.
    SMRi Q96PY6. Positions 1-315.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110825. 14 interactions.
    IntActi Q96PY6. 16 interactions.
    STRINGi 9606.ENSP00000408020.

    Chemistry

    BindingDBi Q96PY6.
    ChEMBLi CHEMBL5855.
    GuidetoPHARMACOLOGYi 2114.

    PTM databases

    PhosphoSitei Q96PY6.

    Polymorphism databases

    DMDMi 22256934.

    Proteomic databases

    MaxQBi Q96PY6.
    PaxDbi Q96PY6.
    PRIDEi Q96PY6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000439128 ; ENSP00000408020 ; ENSG00000137601 . [Q96PY6-1 ]
    ENST00000507142 ; ENSP00000424757 ; ENSG00000137601 . [Q96PY6-3 ]
    ENST00000510533 ; ENSP00000427653 ; ENSG00000137601 . [Q96PY6-2 ]
    ENST00000511633 ; ENSP00000423332 ; ENSG00000137601 . [Q96PY6-6 ]
    ENST00000512193 ; ENSP00000424938 ; ENSG00000137601 . [Q96PY6-4 ]
    GeneIDi 4750.
    KEGGi hsa:4750.
    UCSCi uc003isb.2. human. [Q96PY6-1 ]
    uc003isc.2. human. [Q96PY6-2 ]
    uc003isd.2. human. [Q96PY6-3 ]
    uc003ise.2. human.
    uc003isf.2. human. [Q96PY6-4 ]
    uc003isg.1. human. [Q96PY6-5 ]

    Organism-specific databases

    CTDi 4750.
    GeneCardsi GC04M170314.
    HGNCi HGNC:7744. NEK1.
    HPAi HPA020873.
    HPA040413.
    MIMi 263520. phenotype.
    604588. gene.
    neXtProti NX_Q96PY6.
    Orphaneti 93269. Short rib-polydactyly syndrome, Majewski type.
    PharmGKBi PA31545.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOVERGENi HBG006460.
    KOi K08857.
    OMAi IAEEFCL.
    OrthoDBi EOG7D59P5.
    PhylomeDBi Q96PY6.
    TreeFami TF333575.

    Enzyme and pathway databases

    SignaLinki Q96PY6.

    Miscellaneous databases

    GeneWikii NEK1.
    GenomeRNAii 4750.
    NextBioi 18306.
    PROi Q96PY6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96PY6.
    Bgeei Q96PY6.
    CleanExi HS_NEK1.
    Genevestigatori Q96PY6.

    Family and domain databases

    InterProi IPR011009. 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 ]
    Pfami PF00069. Pkinase. 1 hit.
    [Graphical view ]
    SMARTi SM00220. S_TKc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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.
      , 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. 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.
      , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. 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. "Phosphorylation by Nek1 regulates opening and closing of voltage dependent anion channel 1."
      Chen Y., Gaczynska M., Osmulski P., Polci R., Riley D.J.
      Biochem. Biophys. Res. Commun. 394:798-803(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN PHOSPHORYLATION OF VDAC1.
    12. Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN DIGENIC SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "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.
      , 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.
    15. Cited for: VARIANTS SRTD6 ARG-145 AND SER-253.

    Entry informationi

    Entry nameiNEK1_HUMAN
    AccessioniPrimary (citable) accession number: Q96PY6
    Secondary accession number(s): G5E9Z3
    , Q05DG5, Q14CB7, Q5H9T1, Q6PIB8, Q96SS2, Q9H6P7, Q9Y594
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 13, 2002
    Last sequence update: August 13, 2002
    Last modified: October 1, 2014
    This is version 133 of the entry and version 2 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3