Q96PY6 (NEK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	NEK1
Synonyms:	KIAA1901

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	1258 AA.
Sequence status	Complete.
Protein existence	Evidence 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.10
Catalytic activity	ATP + a protein = ADP + a phosphoprotein.
Cofactor	Magnesium.
Subunit structure	Binds to SPERT By similarity.
Subcellular location	Nucleus Probable. Cytoplasm › cytoskeleton › centrosome By similarity. Note: Associated with the pericentriolar material. Localizes to centrosome during interphase and mitosis By similarity. Ref.10
Tissue specificity	High fetal expression in the brain and kidney. Ref.10
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. Ref.10
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 process	Cell cycle Cell division Cilium biogenesis/degradation Mitosis
Cellular component	Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Kinase Serine/threonine-protein kinase Transferase Tyrosine-protein kinase
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell division Inferred from electronic annotation. Source: UniProtKB-KW cilium assembly Inferred from mutant phenotype Ref.10. Source: UniProtKB mitosis Inferred from electronic annotation. Source: UniProtKB-KW response to DNA damage stimulus Inferred from electronic annotation. Source: Compara response to ionizing radiation Inferred from electronic annotation. Source: Compara
Cellular_component	nuclear membrane Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA pericentriolar material Inferred from direct assay Ref.10. Source: UniProtKB
Molecular_function	ATP 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

With	Entry	#Exp.	IntAct	Notes
FEZ1	Q99689	2	EBI-373615,EBI-396435
FEZ2	Q9UHY8	2	EBI-373615,EBI-396453

Alternative products

This entry describes 5 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.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1258

1258

Serine/threonine-protein kinase Nek1

PRO_0000086418

Regions

Domain

4 – 258

255

Protein kinase

Nucleotide binding

10 – 18

9

ATP By similarity

Sites

Active site

128

1

Proton acceptor By similarity

Binding site

33

1

ATP By similarity

Amino acid modifications

Modified residue

162

1

Phosphothreonine; by autocatalysis By similarity

Modified residue

414

1

Phosphoserine Ref.9

Modified residue

418

1

Phosphoserine Ref.9

Modified residue

428

1

Phosphoserine Ref.9

Modified residue

653

1

Phosphoserine Ref.9

Modified residue

664

1

Phosphoserine By similarity

Modified residue

798

1

Phosphoserine Ref.9

Modified residue

834

1

Phosphoserine Ref.9

Modified residue

868

1

Phosphoserine Ref.9

Modified residue

881

1

Phosphoserine Ref.9

Modified residue

1126

1

Phosphoserine By similarity

Natural variations

Alternative sequence

398 – 422

25

Missing in isoform 4.

VSP_035435

Alternative sequence

477 – 520

44

Missing in isoform 4.

VSP_035436

Alternative sequence

478 – 521

44

Missing in isoform 2.

VSP_004870

Alternative sequence

522 – 527

6

QKGQLA → LDCDDP in isoform 5.

VSP_035437

Alternative sequence

528 – 1258

731

Missing in isoform 5.

VSP_035438

Alternative sequence

555

1

M → MGILQNLAAMYGGRPSSSRG GKPRNKEEE in isoform 3.

VSP_035439

Natural variant

10

1

I → F. Ref.12
Corresponds to variant rs34214559 [ dbSNP | Ensembl ].

VAR_040900

Natural variant

25

1

E → K in a lung large cell carcinoma sample; somatic mutation. Ref.12

VAR_040901

Natural variant

76

1

L → V. Ref.12
Corresponds to variant rs35093214 [ dbSNP | Ensembl ].

VAR_040902

Natural variant

294

1

A → P in a lung adenocarcinoma sample; somatic mutation. Ref.12

VAR_040903

Natural variant

355

1

R → G. Ref.12
Corresponds to variant rs35763578 [ dbSNP | Ensembl ].

VAR_040904

Natural variant

463

1

A → V. Ref.12
Corresponds to variant rs34540355 [ dbSNP | Ensembl ].

VAR_040905

Natural variant

598

1

A → T. Ref.12
Corresponds to variant rs33933790 [ dbSNP | Ensembl ].

VAR_046486

Natural variant

717

1

N → K.
Corresponds to variant rs34324114 [ dbSNP | Ensembl ].

VAR_061743

Natural variant

724

1

E → G. Ref.2 Ref.12
Corresponds to variant rs34099167 [ dbSNP | Ensembl ].

VAR_051651

Natural variant

745

1

K → N. Ref.12

VAR_040906

Natural variant

883

1

Q → E. Ref.12
Corresponds to variant rs6828134 [ dbSNP | Ensembl ].

VAR_046488

Natural variant

1180

1

D → N. Ref.12
Corresponds to variant rs35503975 [ dbSNP | Ensembl ].

VAR_046489

Experimental info

Sequence conflict

250

1

N → D in CAI45943. Ref.2

Sequence conflict

602

1

R → RK in CAI45943. Ref.2

Sequence conflict

1232

1

G → E in AAD42879. Ref.6

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

1258

Helix Strand Turn

Details...

Beta strand

4 – 9

6

Beta strand

18 – 23

6

Turn

24 – 26

3

Beta strand

29 – 36

8

Helix

42 – 57

16

Beta strand

66 – 72

7

Beta strand

75 – 81

7

Helix

88 – 94

7

Turn

95 – 97

3

Helix

102 – 121

20

Helix

131 – 133

3

Beta strand

134 – 136

3

Beta strand

142 – 144

3

Beta strand

149 – 151

3

Helix

155 – 164

10

Helix

172 – 175

4

Helix

182 – 198

17

Helix

208 – 217

10

Helix

229 – 238

10

Helix

243 – 245

3

Helix

249 – 253

5

Helix

256 – 259

4

Helix

260 – 264

5

Helix

268 – 275

8

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 13, 2002. Version 2. Checksum: 339C4BFA56612530	FASTA	1,258	142,828
	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
	Isoform 2 [UniParc]. Checksum: 347246AED3D9FD79	FASTA	1,214	138,068
	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 GRGLPERQKG 490 500 510 520 530 540 QLAVERAKQV EEFLQRKREA MQNKARAEGH MVYLARLRQI RLQNFNERQQ IKAKLRGEKK 550 560 570 580 590 600 EANHSEGQEG SEEADMRRKK IESLKAHANA RAAVLKEQLE RKRKEAYERE KKVWEEHLVA 610 620 630 640 650 660 KGVKSSDVSP PLGQHETGGS PSKQQMRSVI SVTSALKEVG VDSSLTDTRE TSEEMQKTNN 670 680 690 700 710 720 AISSKREILR RLNENLKAQE DEKGKQNLSD TFEINVHEDA KEHEKEKSVS SDRKKWEAGG 730 740 750 760 770 780 QLVIPLDELT LDTSFSTTER HTVGEVIKLG PNGSPRRAWG KSPTDSVLKI LGEAELQLQT 790 800 810 820 830 840 ELLENTTIRS EISPEGEKYK PLITGEKKVQ CISHEINPSA IVDSPVETKS PEFSEASPQM 850 860 870 880 890 900 SLKLEGNLEE PDDLETEILQ EPSGTNKDES LPCTITDVWI SEEKETKETQ SADRITIQEN 910 920 930 940 950 960 EVSEDGVSST VDQLSDIHIE PGTNDSQHSK CDVDKSVQPE PFFHKVVHSE HLNLVPQVQS 970 980 990 1000 1010 1020 VQCSPEESFA FRSHSHLPPK NKNKNSLLIG LSTGLFDANN PKMLRTCSLP DLSKLFRTLM 1030 1040 1050 1060 1070 1080 DVPTVGDVRQ DNLEIDEIED ENIKEGPSDS EDIVFEETDT DLQELQASME QLLREQPGEE 1090 1100 1110 1120 1130 1140 YSEEEESVLK NSDVEPTANG TDVADEDDNP SSESALNEEW HSDNSDGEIA SECECDSVFN 1150 1160 1170 1180 1190 1200 HLEELRLHLE QEMGFEKFFE VYEKIKAIHE DEDENIEICS KIVQNILGNE HQHLYAKILH 1210 LVMADGAYQE DNDE
	Isoform 3 [UniParc]. Checksum: F94B3F9C0666059D	FASTA	1,286	145,814
	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 AEGHMGILQN LAAMYGGRPS SSRGGKPRNK EEEVYLARLR QIRLQNFNER 610 620 630 640 650 660 QQIKAKLRGE KKEANHSEGQ EGSEEADMRR KKIESLKAHA NARAAVLKEQ LERKRKEAYE 670 680 690 700 710 720 REKKVWEEHL VAKGVKSSDV SPPLGQHETG GSPSKQQMRS VISVTSALKE VGVDSSLTDT 730 740 750 760 770 780 RETSEEMQKT NNAISSKREI LRRLNENLKA QEDEKGKQNL SDTFEINVHE DAKEHEKEKS 790 800 810 820 830 840 VSSDRKKWEA GGQLVIPLDE LTLDTSFSTT ERHTVGEVIK LGPNGSPRRA WGKSPTDSVL 850 860 870 880 890 900 KILGEAELQL QTELLENTTI RSEISPEGEK YKPLITGEKK VQCISHEINP SAIVDSPVET 910 920 930 940 950 960 KSPEFSEASP QMSLKLEGNL EEPDDLETEI LQEPSGTNKD ESLPCTITDV WISEEKETKE 970 980 990 1000 1010 1020 TQSADRITIQ ENEVSEDGVS STVDQLSDIH IEPGTNDSQH SKCDVDKSVQ PEPFFHKVVH 1030 1040 1050 1060 1070 1080 SEHLNLVPQV QSVQCSPEES FAFRSHSHLP PKNKNKNSLL IGLSTGLFDA NNPKMLRTCS 1090 1100 1110 1120 1130 1140 LPDLSKLFRT LMDVPTVGDV RQDNLEIDEI EDENIKEGPS DSEDIVFEET DTDLQELQAS 1150 1160 1170 1180 1190 1200 MEQLLREQPG EEYSEEEESV LKNSDVEPTA NGTDVADEDD NPSSESALNE EWHSDNSDGE 1210 1220 1230 1240 1250 1260 IASECECDSV FNHLEELRLH LEQEMGFEKF FEVYEKIKAI HEDEDENIEI CSKIVQNILG 1270 1280 NEHQHLYAKI LHLVMADGAY QEDNDE
	Isoform 4 [UniParc]. Checksum: CAE13631DC2A2151	FASTA	1,189	135,303
	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 KRQEKERAPF LGSGGTIAPS SFSSRGQYEH 430 440 450 460 470 480 YHAIFDQMQQ QRAEDNEAKW KREIYGRGLP ERQKGQLAVE RAKQVEEFLQ RKREAMQNKA 490 500 510 520 530 540 RAEGHMVYLA RLRQIRLQNF NERQQIKAKL RGEKKEANHS EGQEGSEEAD MRRKKIESLK 550 560 570 580 590 600 AHANARAAVL KEQLERKRKE AYEREKKVWE EHLVAKGVKS SDVSPPLGQH ETGGSPSKQQ 610 620 630 640 650 660 MRSVISVTSA LKEVGVDSSL TDTRETSEEM QKTNNAISSK REILRRLNEN LKAQEDEKGK 670 680 690 700 710 720 QNLSDTFEIN VHEDAKEHEK EKSVSSDRKK WEAGGQLVIP LDELTLDTSF STTERHTVGE 730 740 750 760 770 780 VIKLGPNGSP RRAWGKSPTD SVLKILGEAE LQLQTELLEN TTIRSEISPE GEKYKPLITG 790 800 810 820 830 840 EKKVQCISHE INPSAIVDSP VETKSPEFSE ASPQMSLKLE GNLEEPDDLE TEILQEPSGT 850 860 870 880 890 900 NKDESLPCTI TDVWISEEKE TKETQSADRI TIQENEVSED GVSSTVDQLS DIHIEPGTND 910 920 930 940 950 960 SQHSKCDVDK SVQPEPFFHK VVHSEHLNLV PQVQSVQCSP EESFAFRSHS HLPPKNKNKN 970 980 990 1000 1010 1020 SLLIGLSTGL FDANNPKMLR TCSLPDLSKL FRTLMDVPTV GDVRQDNLEI DEIEDENIKE 1030 1040 1050 1060 1070 1080 GPSDSEDIVF EETDTDLQEL QASMEQLLRE QPGEEYSEEE ESVLKNSDVE PTANGTDVAD 1090 1100 1110 1120 1130 1140 EDDNPSSESA LNEEWHSDNS DGEIASECEC DSVFNHLEEL RLHLEQEMGF EKFFEVYEKI 1150 1160 1170 1180 KAIHEDEDEN IEICSKIVQN ILGNEHQHLY AKILHLVMAD GAYQEDNDE
	Isoform 5 [UniParc]. Checksum: 47E0707A533EE57C	FASTA	527	60,250
	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 PGVRPGFPYG AAGHHHFPDA DDIRKTLKRL KAVSKQANAN RLDCDDP

References

	« Hide 'large scale' referencesShow '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. , 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]	"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.
[5]	"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.
[6]	"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.
[7]	"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.
[8]	"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.
[9]	"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, MASS SPECTROMETRY.
[10]	"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., Stoss H., Beinder E., Abou Jamra R., Ekici A.B., Schroder-Kress N., Aigner T., Kirchner T., Reis A., Brandstatter 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.
[11]	"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].
[12]	"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.
+	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.
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.

IPI

IPI00044749.
IPI00219958.
IPI00747017.
IPI00909179.
IPI00909379.

RefSeq

NP_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.

UniGene

Hs.481181.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q96PY6.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q96PY6. 13 interactions.

STRING

9606.ENSP00000408020.

PTM databases

PhosphoSite

Q96PY6.

Polymorphism databases

DMDM

22256934.

Proteomic databases

PaxDb

Q96PY6.

PRIDE

Q96PY6.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000439128; ENSP00000408020; ENSG00000137601.
ENST00000507142; ENSP00000424757; ENSG00000137601.
ENST00000510533; ENSP00000427653; ENSG00000137601.
ENST00000512193; ENSP00000424938; ENSG00000137601.

GeneID

4750.

KEGG

hsa:4750.

UCSC

uc003isb.2. human.
uc003isc.2. human.
uc003isd.2. human.
uc003isf.2. human.
uc003isg.1. human.

Organism-specific databases

CTD

4750.

GeneCards

GC04M170314.

HGNC

HGNC:7744. NEK1.

HPA

HPA020873.
HPA040413.

MIM

263520. phenotype.
604588. gene.

neXtProt

NX_Q96PY6.

Orphanet

93269. Short rib-polydactyly syndrome, Majewski type.

PharmGKB

PA31545.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0515.

HOVERGEN

HBG006460.

KO

K08857.

OMA

EQEIGFE.

OrthoDB

EOG47D9FH.

Gene expression databases

ArrayExpress

Q96PY6.

Bgee

Q96PY6.

CleanEx

HS_NEK1.

Genevestigator

Q96PY6.

GermOnline

ENSG00000137601. Homo sapiens.

Family and domain databases

InterPro

IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_cat_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR002290. Ser/Thr_dual-sp_kinase_dom.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view]

Pfam

PF00069. Pkinase. 1 hit.
[Graphical view]

SMART

SM00220. S_TKc. 1 hit.
[Graphical view]

SUPFAM

SSF56112. Kinase_like. 1 hit.

PROSITE

PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

BindingDB

Q96PY6.

ChEMBL

CHEMBL5855.

GenomeRNAi

4750.

NextBio

18306.

SOURCE

Search...

Entry information

Entry name

NEK1_HUMAN

Accession

Primary (citable) accession number: Q96PY6
Secondary accession number(s): 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:	May 1, 2013
This is version 117 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

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