Q96PY6 · NEK1_HUMAN

  • Protein
    Serine/threonine-protein kinase Nek1
  • Gene
    NEK1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784).
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

Cofactor

Mg2+ (UniProtKB | Rhea| CHEBI:18420 )

Features

Showing features for binding site, active site.

TypeIDPosition(s)Description
Binding site10-18ATP (UniProtKB | ChEBI)
Binding site33ATP (UniProtKB | ChEBI)
Active site128Proton acceptor

GO annotations

AspectTerm
Cellular Componentcentriolar satellite
Cellular Componentcentrosome
Cellular Componentcytoplasm
Cellular Componentcytosol
Cellular Componentnucleoplasm
Cellular Componentnucleus
Cellular Componentpericentriolar material
Molecular Function14-3-3 protein binding
Molecular FunctionATP binding
Molecular Functionkinase activity
Molecular Functionmetal ion binding
Molecular Functionprotein kinase activity
Molecular Functionprotein serine kinase activity
Molecular Functionprotein serine/threonine kinase activity
Molecular Functionprotein tyrosine kinase activity
Biological Processcell division
Biological Processcilium assembly
Biological Processprotein phosphorylation

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Serine/threonine-protein kinase Nek1
  • EC number
  • Alternative names
    • Never in mitosis A-related kinase 1 (NimA-related protein kinase 1)
    • Renal carcinoma antigen NY-REN-55

Gene names

    • Name
      NEK1
    • Synonyms
      KIAA1901

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q96PY6
  • Secondary accessions
    • G5E9Z3
    • Q05DG5
    • Q14CB7
    • Q5H9T1
    • Q6PIB8

Proteomes

Organism-specific databases

Subcellular Location

Nucleus
Cytoplasm
Note: Associated with the pericentriolar material (PubMed:21211617).
Localizes to centrosome during interphase and mitosis (By similarity).
Translocated from cytoplasm to discrete nuclear foci at sites of DNA damage (PubMed:15604234).

Keywords

Disease & Variants

Involvement in disease

Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6)

  • Note
    • The disease is caused by variants 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)
  • Description
    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.
  • See also
    MIM:263520
Natural variants in SRTD6
Variant IDPosition(s)ChangeDescription
VAR_069617145G>Rin SRTD6; dbSNP:rs431905508
VAR_069618253L>Sin SRTD6

Amyotrophic lateral sclerosis 24 (ALS24)

  • Note
    • Disease susceptibility is associated with variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:617892

Orofaciodigital syndrome 2 (OFD2)

  • Note
    • The disease may be caused by variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:252100
Natural variants in OFD2
Variant IDPosition(s)ChangeDescription
VAR_089300155S>Tin 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_089301409-1258missingin OFD2; uncertain significance; the nucleotide substitution creating this nonsense variant may predominantly result in aberrant splicing

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_04090010in dbSNP:rs34214559
Natural variantVAR_04090125in a lung large cell carcinoma sample; somatic mutation
Natural variantVAR_04090276in dbSNP:rs35093214
Natural variantVAR_069617145in SRTD6; dbSNP:rs431905508
Natural variantVAR_089300155in 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
Natural variantVAR_069618253in SRTD6
Natural variantVAR_080694261risk factor for ALS24; dbSNP:rs200161705
Natural variantVAR_040903294in a lung adenocarcinoma sample; somatic mutation
Natural variantVAR_040904355in dbSNP:rs35763578
Natural variantVAR_089301409-1258in OFD2; uncertain significance; the nucleotide substitution creating this nonsense variant may predominantly result in aberrant splicing
Natural variantVAR_040905463in dbSNP:rs34540355
Natural variantVAR_080695550-1258risk factor for ALS24
Natural variantVAR_046486598in dbSNP:rs33933790
Natural variantVAR_061743717in dbSNP:rs34324114
Natural variantVAR_051651724in dbSNP:rs34099167
Natural variantVAR_040906745
Natural variantVAR_080696784-1258risk factor for ALS24
Natural variantVAR_046488883in dbSNP:rs6828134
Natural variantVAR_0806971008-1258risk factor for ALS24
Natural variantVAR_0464891180in dbSNP:rs35503975

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.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Chemistry

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue, modified residue (large scale data).

TypeIDPosition(s)SourceDescription
ChainPRO_00000864181-1258UniProtSerine/threonine-protein kinase Nek1
Modified residue156UniProtPhosphothreonine
Modified residue162UniProtPhosphothreonine; by autocatalysis
Modified residue414UniProtPhosphoserine
Modified residue (large scale data)414PRIDEPhosphoserine
Modified residue418UniProtPhosphoserine
Modified residue428UniProtPhosphoserine
Modified residue (large scale data)428PRIDEPhosphoserine
Modified residue438UniProtPhosphoserine
Modified residue653UniProtPhosphoserine
Modified residue (large scale data)653PRIDEPhosphoserine
Modified residue661UniProtPhosphothreonine
Modified residue (large scale data)661PRIDEPhosphothreonine
Modified residue664UniProtPhosphoserine
Modified residue (large scale data)664PRIDEPhosphoserine
Modified residue (large scale data)666PRIDEPhosphoserine
Modified residue (large scale data)675PRIDEPhosphoserine
Modified residue798UniProtPhosphoserine
Modified residue (large scale data)798PRIDEPhosphoserine
Modified residue (large scale data)806PRIDEPhosphoserine
Modified residue834UniProtPhosphoserine
Modified residue (large scale data)837PRIDEPhosphoserine
Modified residue868UniProtPhosphoserine
Modified residue (large scale data)868PRIDEPhosphoserine
Modified residue (large scale data)874PRIDEPhosphoserine
Modified residue (large scale data)878PRIDEPhosphoserine
Modified residue881UniProtPhosphoserine
Modified residue (large scale data)881PRIDEPhosphoserine
Modified residue (large scale data)959PRIDEPhosphoserine
Modified residue (large scale data)1008PRIDEPhosphoserine
Modified residue1052UniProtPhosphoserine
Modified residue (large scale data)1052PRIDEPhosphoserine
Modified residue (large scale data)1092PRIDEPhosphoserine
Modified residue (large scale data)1125PRIDEPhosphotyrosine
Modified residue1126UniProtPhosphoserine
Modified residue (large scale data)1126PRIDEPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

High fetal expression in the brain and kidney.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Binds to CBY2 (By similarity).
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

Protein-protein interaction databases

Chemistry

Miscellaneous

Family & Domains

Features

Showing features for domain, region, compositional bias.

TypeIDPosition(s)Description
Domain4-258Protein kinase
Region330-360Disordered
Compositional bias338-360Basic and acidic residues
Region578-600Disordered
Region648-669Disordered
Compositional bias654-669Polar residues
Region685-704Disordered
Region1118-1171Disordered

Sequence similarities

Phylogenomic databases

Family and domain databases

Sequence & Isoforms

Align isoforms (6)
  • Sequence status
    Complete

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.

  • Length
    1,258
  • Mass (Da)
    142,828
  • Last updated
    2002-08-13 v2
  • Checksum
    339C4BFA56612530
MEKYVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKHPNIVQYRESFEENGSLYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVHDRKILHRDIKSQNIFLTKDGTVQLGDFGIARVLNSTVELARTCIGTPYYLSPEICENKPYNNKSDIWALGCVLYELCTLKHAFEAGSMKNLVLKIISGSFPPVSLHYSYDLRSLVSQLFKRNPRDRPSVNSILEKGFIAKRIEKFLSPQLIAEEFCLKTFSKFGSQPIPAKRPASGQNSISVMPAQKITKPAAKYGIPLAYKKYGDKKLHEKKPLQKHKQAHQTPEKRVNTGEERRKISEEAARKRRLEFIEKEKKQKDQIISLMKAEQMKRQEKERLERINRAREQGWRNVLSAGGSGEVKAPFLGSGGTIAPSSFSSRGQYEHYHAIFDQMQQQRAEDNEAKWKREIYGRGLPERGILPGVRPGFPYGAAGHHHFPDADDIRKTLKRLKAVSKQANANRQKGQLAVERAKQVEEFLQRKREAMQNKARAEGHMVYLARLRQIRLQNFNERQQIKAKLRGEKKEANHSEGQEGSEEADMRRKKIESLKAHANARAAVLKEQLERKRKEAYEREKKVWEEHLVAKGVKSSDVSPPLGQHETGGSPSKQQMRSVISVTSALKEVGVDSSLTDTRETSEEMQKTNNAISSKREILRRLNENLKAQEDEKGKQNLSDTFEINVHEDAKEHEKEKSVSSDRKKWEAGGQLVIPLDELTLDTSFSTTERHTVGEVIKLGPNGSPRRAWGKSPTDSVLKILGEAELQLQTELLENTTIRSEISPEGEKYKPLITGEKKVQCISHEINPSAIVDSPVETKSPEFSEASPQMSLKLEGNLEEPDDLETEILQEPSGTNKDESLPCTITDVWISEEKETKETQSADRITIQENEVSEDGVSSTVDQLSDIHIEPGTNDSQHSKCDVDKSVQPEPFFHKVVHSEHLNLVPQVQSVQCSPEESFAFRSHSHLPPKNKNKNSLLIGLSTGLFDANNPKMLRTCSLPDLSKLFRTLMDVPTVGDVRQDNLEIDEIEDENIKEGPSDSEDIVFEETDTDLQELQASMEQLLREQPGEEYSEEEESVLKNSDVEPTANGTDVADEDDNPSSESALNEEWHSDNSDGEIASECECDSVFNHLEELRLHLEQEMGFEKFFEVYEKIKAIHEDEDENIEICSKIVQNILGNEHQHLYAKILHLVMADGAYQEDNDE

Q96PY6-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Q96PY6-3

  • Name
    3
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 555-555: M → MGILQNLAAMYGGRPSSSRGGKPRNKEEE

Q96PY6-4

Q96PY6-5

Q96PY6-6

  • Name
    6
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 10 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
A0A8I5QL42A0A8I5QL42_HUMANNEK1627
A0A8I5QJM8A0A8I5QJM8_HUMANNEK1351
D6RBG5D6RBG5_HUMANNEK145
H0Y8M6H0Y8M6_HUMANNEK1341
A0A8I5KQ77A0A8I5KQ77_HUMANNEK187
A0A8I5KRM5A0A8I5KRM5_HUMANNEK11267
A0A8I5KSI3A0A8I5KSI3_HUMANNEK11230
A0A8I5KUL6A0A8I5KUL6_HUMANNEK11125
A0A8I5KT19A0A8I5KT19_HUMANNEK154
A0A8I5KWD5A0A8I5KWD5_HUMANNEK1671

Sequence caution

The sequence AAH15147.1 differs from that shown. Reason: Miscellaneous discrepancy Contaminating sequence. Potential poly-A sequence.
The sequence BAB15207.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence BAB55209.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence BAB67794.1 differs from that shown. Reason: Erroneous initiation Extended N-terminus.

Features

Showing features for sequence conflict, compositional bias, alternative sequence.

TypeIDPosition(s)Description
Sequence conflict250in Ref. 2; CAI45943
Compositional bias338-360Basic and acidic residues
Alternative sequenceVSP_035435398-422in isoform 4
Alternative sequenceVSP_035436477-520in isoform 4 and isoform 6
Alternative sequenceVSP_004870478-521in isoform 2
Alternative sequenceVSP_035437522-527in isoform 5
Alternative sequenceVSP_035438528-1258in isoform 5
Alternative sequenceVSP_035439555in isoform 3 and isoform 6
Sequence conflict602in Ref. 2; CAI45943
Compositional bias654-669Polar residues
Sequence conflict1232in Ref. 7; AAD42879

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
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

Genome annotation databases

Similar Proteins

Disclaimer

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