Q96PY6 · NEK1_HUMAN
- ProteinSerine/threonine-protein kinase Nek1
- GeneNEK1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1258 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784).
In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death (PubMed:20230784).
May be implicated in the control of meiosis (By similarity).
Involved in cilium assembly (PubMed:21211617).
Catalytic activity
- ATP + L-seryl-[protein] = ADP + H+ + O-phospho-L-seryl-[protein]
Cofactor
Features
Showing features for binding site, active site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | centriolar satellite | |
Cellular Component | centrosome | |
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | nucleoplasm | |
Cellular Component | nucleus | |
Cellular Component | pericentriolar material | |
Molecular Function | 14-3-3 protein binding | |
Molecular Function | ATP binding | |
Molecular Function | kinase activity | |
Molecular Function | metal ion binding | |
Molecular Function | protein kinase activity | |
Molecular Function | protein serine kinase activity | |
Molecular Function | protein serine/threonine kinase activity | |
Molecular Function | protein tyrosine kinase activity | |
Biological Process | cell division | |
Biological Process | cilium assembly | |
Biological Process | protein phosphorylation |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameSerine/threonine-protein kinase Nek1
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ96PY6
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6)
- Note
- DescriptionA 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.
- See alsoMIM:263520
Natural variants in SRTD6
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_069617 | 145 | G>R | in SRTD6; dbSNP:rs431905508 | |
VAR_069618 | 253 | L>S | in SRTD6 |
Amyotrophic lateral sclerosis 24 (ALS24)
- Note
- DescriptionA form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
- See alsoMIM:617892
Orofaciodigital syndrome 2 (OFD2)
- Note
- DescriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD2 is an autosomal recessive form characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies, maxillary hypoplasia, conductive hearing loss, polydactyly, syndactyly, brachydactyly, and mesomelic lower limb shortening.
- See alsoMIM:252100
Natural variants in OFD2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_089300 | 155 | S>T | in OFD2; uncertain significance; the nucleotide substitution creating this missense variant may predominantly result in aberrant splicing, with skipping of exon 6 and creation of a premature stop codon, possibly leading to nonsense-mediated mRNA decay | |
VAR_089301 | 409-1258 | missing | in OFD2; uncertain significance; the nucleotide substitution creating this nonsense variant may predominantly result in aberrant splicing |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_040900 | 10 | in dbSNP:rs34214559 | |||
Sequence: I → F | ||||||
Natural variant | VAR_040901 | 25 | in a lung large cell carcinoma sample; somatic mutation | |||
Sequence: E → K | ||||||
Natural variant | VAR_040902 | 76 | in dbSNP:rs35093214 | |||
Sequence: L → V | ||||||
Natural variant | VAR_069617 | 145 | in SRTD6; dbSNP:rs431905508 | |||
Sequence: G → R | ||||||
Natural variant | VAR_089300 | 155 | in OFD2; uncertain significance; the nucleotide substitution creating this missense variant may predominantly result in aberrant splicing, with skipping of exon 6 and creation of a premature stop codon, possibly leading to nonsense-mediated mRNA decay | |||
Sequence: S → T | ||||||
Natural variant | VAR_069618 | 253 | in SRTD6 | |||
Sequence: L → S | ||||||
Natural variant | VAR_080694 | 261 | risk factor for ALS24; dbSNP:rs200161705 | |||
Sequence: R → H | ||||||
Natural variant | VAR_040903 | 294 | in a lung adenocarcinoma sample; somatic mutation | |||
Sequence: A → P | ||||||
Natural variant | VAR_040904 | 355 | in dbSNP:rs35763578 | |||
Sequence: R → G | ||||||
Natural variant | VAR_089301 | 409-1258 | in OFD2; uncertain significance; the nucleotide substitution creating this nonsense variant may predominantly result in aberrant splicing | |||
Sequence: Missing | ||||||
Natural variant | VAR_040905 | 463 | in dbSNP:rs34540355 | |||
Sequence: A → V | ||||||
Natural variant | VAR_080695 | 550-1258 | risk factor for ALS24 | |||
Sequence: Missing | ||||||
Natural variant | VAR_046486 | 598 | in dbSNP:rs33933790 | |||
Sequence: A → T | ||||||
Natural variant | VAR_061743 | 717 | in dbSNP:rs34324114 | |||
Sequence: N → K | ||||||
Natural variant | VAR_051651 | 724 | in dbSNP:rs34099167 | |||
Sequence: E → G | ||||||
Natural variant | VAR_040906 | 745 | ||||
Sequence: K → N | ||||||
Natural variant | VAR_080696 | 784-1258 | risk factor for ALS24 | |||
Sequence: Missing | ||||||
Natural variant | VAR_046488 | 883 | in dbSNP:rs6828134 | |||
Sequence: Q → E | ||||||
Natural variant | VAR_080697 | 1008-1258 | risk factor for ALS24 | |||
Sequence: Missing | ||||||
Natural variant | VAR_046489 | 1180 | in dbSNP:rs35503975 | |||
Sequence: D → N |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,497 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000086418 | 1-1258 | UniProt | Serine/threonine-protein kinase Nek1 | |||
Sequence: MEKYVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKHPNIVQYRESFEENGSLYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVHDRKILHRDIKSQNIFLTKDGTVQLGDFGIARVLNSTVELARTCIGTPYYLSPEICENKPYNNKSDIWALGCVLYELCTLKHAFEAGSMKNLVLKIISGSFPPVSLHYSYDLRSLVSQLFKRNPRDRPSVNSILEKGFIAKRIEKFLSPQLIAEEFCLKTFSKFGSQPIPAKRPASGQNSISVMPAQKITKPAAKYGIPLAYKKYGDKKLHEKKPLQKHKQAHQTPEKRVNTGEERRKISEEAARKRRLEFIEKEKKQKDQIISLMKAEQMKRQEKERLERINRAREQGWRNVLSAGGSGEVKAPFLGSGGTIAPSSFSSRGQYEHYHAIFDQMQQQRAEDNEAKWKREIYGRGLPERGILPGVRPGFPYGAAGHHHFPDADDIRKTLKRLKAVSKQANANRQKGQLAVERAKQVEEFLQRKREAMQNKARAEGHMVYLARLRQIRLQNFNERQQIKAKLRGEKKEANHSEGQEGSEEADMRRKKIESLKAHANARAAVLKEQLERKRKEAYEREKKVWEEHLVAKGVKSSDVSPPLGQHETGGSPSKQQMRSVISVTSALKEVGVDSSLTDTRETSEEMQKTNNAISSKREILRRLNENLKAQEDEKGKQNLSDTFEINVHEDAKEHEKEKSVSSDRKKWEAGGQLVIPLDELTLDTSFSTTERHTVGEVIKLGPNGSPRRAWGKSPTDSVLKILGEAELQLQTELLENTTIRSEISPEGEKYKPLITGEKKVQCISHEINPSAIVDSPVETKSPEFSEASPQMSLKLEGNLEEPDDLETEILQEPSGTNKDESLPCTITDVWISEEKETKETQSADRITIQENEVSEDGVSSTVDQLSDIHIEPGTNDSQHSKCDVDKSVQPEPFFHKVVHSEHLNLVPQVQSVQCSPEESFAFRSHSHLPPKNKNKNSLLIGLSTGLFDANNPKMLRTCSLPDLSKLFRTLMDVPTVGDVRQDNLEIDEIEDENIKEGPSDSEDIVFEETDTDLQELQASMEQLLREQPGEEYSEEEESVLKNSDVEPTANGTDVADEDDNPSSESALNEEWHSDNSDGEIASECECDSVFNHLEELRLHLEQEMGFEKFFEVYEKIKAIHEDEDENIEICSKIVQNILGNEHQHLYAKILHLVMADGAYQEDNDE | |||||||
Modified residue | 156 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 162 | UniProt | Phosphothreonine; by autocatalysis | ||||
Sequence: T | |||||||
Modified residue | 414 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 414 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 418 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 428 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 428 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 438 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 653 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 653 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 661 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 661 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 664 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 664 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 666 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 675 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 798 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 798 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 806 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 834 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 837 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 868 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 868 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 874 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 878 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 881 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 881 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 959 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 1008 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 1052 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 1052 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 1092 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 1125 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue | 1126 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 1126 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Subunit
Found in a complex with CFAP410, NEK1 and SPATA7 (PubMed:26167768).
Interacts with CFAP410 (PubMed:26167768).
Interacts (via Ser-1052 phosphorylated form) with 14-3-3 proteins (By similarity).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q96PY6 | ALS2 Q96Q42 | 2 | EBI-373615, EBI-1044902 | |
BINARY | Q96PY6 | FEZ1 Q99689 | 2 | EBI-373615, EBI-396435 | |
BINARY | Q96PY6 | FEZ2 Q9UHY8 | 2 | EBI-373615, EBI-396453 | |
BINARY | Q96PY6 | LRRK2 Q5S007 | 2 | EBI-373615, EBI-5323863 | |
BINARY | Q96PY6 | YWHAH Q04917 | 6 | EBI-373615, EBI-306940 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 4-258 | Protein kinase | ||||
Sequence: YVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKHPNIVQYRESFEENGSLYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVHDRKILHRDIKSQNIFLTKDGTVQLGDFGIARVLNSTVELARTCIGTPYYLSPEICENKPYNNKSDIWALGCVLYELCTLKHAFEAGSMKNLVLKIISGSFPPVSLHYSYDLRSLVSQLFKRNPRDRPSVNSILEKGFI | ||||||
Region | 330-360 | Disordered | ||||
Sequence: HEKKPLQKHKQAHQTPEKRVNTGEERRKISE | ||||||
Compositional bias | 338-360 | Basic and acidic residues | ||||
Sequence: HKQAHQTPEKRVNTGEERRKISE | ||||||
Region | 578-600 | Disordered | ||||
Sequence: KLRGEKKEANHSEGQEGSEEADM | ||||||
Region | 648-669 | Disordered | ||||
Sequence: KSSDVSPPLGQHETGGSPSKQQ | ||||||
Compositional bias | 654-669 | Polar residues | ||||
Sequence: PPLGQHETGGSPSKQQ | ||||||
Region | 685-704 | Disordered | ||||
Sequence: VDSSLTDTRETSEEMQKTNN | ||||||
Region | 1118-1171 | Disordered | ||||
Sequence: REQPGEEYSEEEESVLKNSDVEPTANGTDVADEDDNPSSESALNEEWHSDNSDG |
Sequence similarities
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 6 isoforms produced by Alternative splicing.
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.
- Name1
- Length1,258
- Mass (Da)142,828
- Last updated2002-08-13 v2
- Checksum339C4BFA56612530
Q96PY6-2
- Name2
- Differences from canonical
- 478-521: Missing
Q96PY6-3
- Name3
- Differences from canonical
- 555-555: M → MGILQNLAAMYGGRPSSSRGGKPRNKEEE
Q96PY6-4
- Name4
Q96PY6-5
- Name5
Q96PY6-6
- Name6
Computationally mapped potential isoform sequences
There are 10 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A8I5QL42 | A0A8I5QL42_HUMAN | NEK1 | 627 | ||
A0A8I5QJM8 | A0A8I5QJM8_HUMAN | NEK1 | 351 | ||
D6RBG5 | D6RBG5_HUMAN | NEK1 | 45 | ||
H0Y8M6 | H0Y8M6_HUMAN | NEK1 | 341 | ||
A0A8I5KQ77 | A0A8I5KQ77_HUMAN | NEK1 | 87 | ||
A0A8I5KRM5 | A0A8I5KRM5_HUMAN | NEK1 | 1267 | ||
A0A8I5KSI3 | A0A8I5KSI3_HUMAN | NEK1 | 1230 | ||
A0A8I5KUL6 | A0A8I5KUL6_HUMAN | NEK1 | 1125 | ||
A0A8I5KT19 | A0A8I5KT19_HUMAN | NEK1 | 54 | ||
A0A8I5KWD5 | A0A8I5KWD5_HUMAN | NEK1 | 671 |
Sequence caution
Features
Showing features for sequence conflict, compositional bias, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 250 | in Ref. 2; CAI45943 | ||||
Sequence: N → D | ||||||
Compositional bias | 338-360 | Basic and acidic residues | ||||
Sequence: HKQAHQTPEKRVNTGEERRKISE | ||||||
Alternative sequence | VSP_035435 | 398-422 | in isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_035436 | 477-520 | in isoform 4 and isoform 6 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_004870 | 478-521 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_035437 | 522-527 | in isoform 5 | |||
Sequence: QKGQLA → LDCDDP | ||||||
Alternative sequence | VSP_035438 | 528-1258 | in isoform 5 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_035439 | 555 | in isoform 3 and isoform 6 | |||
Sequence: M → MGILQNLAAMYGGRPSSSRGGKPRNKEEE | ||||||
Sequence conflict | 602 | in Ref. 2; CAI45943 | ||||
Sequence: R → RK | ||||||
Compositional bias | 654-669 | Polar residues | ||||
Sequence: PPLGQHETGGSPSKQQ | ||||||
Sequence conflict | 1232 | in Ref. 7; AAD42879 | ||||
Sequence: G → E |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB067488 EMBL· GenBank· DDBJ | BAB67794.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
CR933642 EMBL· GenBank· DDBJ | CAI45943.1 EMBL· GenBank· DDBJ | mRNA | ||
AC116615 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC116621 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC084724 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471056 EMBL· GenBank· DDBJ | EAX04791.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC015147 EMBL· GenBank· DDBJ | AAH15147.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
BC037790 EMBL· GenBank· DDBJ | AAH37790.1 EMBL· GenBank· DDBJ | mRNA | ||
BC114491 EMBL· GenBank· DDBJ | AAI14492.1 EMBL· GenBank· DDBJ | mRNA | ||
AK025658 EMBL· GenBank· DDBJ | BAB15207.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK027580 EMBL· GenBank· DDBJ | BAB55209.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AF155113 EMBL· GenBank· DDBJ | AAD42879.1 EMBL· GenBank· DDBJ | mRNA |