Seroatlas · Human Serome Atlas

NEK1

Serine/threonine-protein kinase Nek1

Also known as: KIAA1901, NEK1_HUMAN, NY-REN-55

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96PY6
Gene: NEK1
Ensembl: ENSG00000137601
Chromosome: 4
Canonical length: 1258 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Primary cilium,Centriolar satellite,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

1258 residues, UniProt reviewed canonical sequence.

>Q96PY6|NEK1
     1  MEKYVRLQKI GEGSFGKAIL VKSTEDGRQY VIKEINISRM SSKEREESRR EVAVLANMKH
    61  PNIVQYRESF EENGSLYIVM DYCEGGDLFK RINAQKGVLF QEDQILDWFV QICLALKHVH
   121  DRKILHRDIK SQNIFLTKDG TVQLGDFGIA RVLNSTVELA RTCIGTPYYL SPEICENKPY
   181  NNKSDIWALG CVLYELCTLK HAFEAGSMKN LVLKIISGSF PPVSLHYSYD LRSLVSQLFK
   241  RNPRDRPSVN SILEKGFIAK RIEKFLSPQL IAEEFCLKTF SKFGSQPIPA KRPASGQNSI
   301  SVMPAQKITK PAAKYGIPLA YKKYGDKKLH EKKPLQKHKQ AHQTPEKRVN TGEERRKISE
   361  EAARKRRLEF IEKEKKQKDQ IISLMKAEQM KRQEKERLER INRAREQGWR NVLSAGGSGE
   421  VKAPFLGSGG TIAPSSFSSR GQYEHYHAIF DQMQQQRAED NEAKWKREIY GRGLPERGIL
   481  PGVRPGFPYG AAGHHHFPDA DDIRKTLKRL KAVSKQANAN RQKGQLAVER AKQVEEFLQR
   541  KREAMQNKAR AEGHMVYLAR LRQIRLQNFN ERQQIKAKLR GEKKEANHSE GQEGSEEADM
   601  RRKKIESLKA HANARAAVLK EQLERKRKEA YEREKKVWEE HLVAKGVKSS DVSPPLGQHE
   661  TGGSPSKQQM RSVISVTSAL KEVGVDSSLT DTRETSEEMQ KTNNAISSKR EILRRLNENL
   721  KAQEDEKGKQ NLSDTFEINV HEDAKEHEKE KSVSSDRKKW EAGGQLVIPL DELTLDTSFS
   781  TTERHTVGEV IKLGPNGSPR RAWGKSPTDS VLKILGEAEL QLQTELLENT TIRSEISPEG
   841  EKYKPLITGE KKVQCISHEI NPSAIVDSPV ETKSPEFSEA SPQMSLKLEG NLEEPDDLET
   901  EILQEPSGTN KDESLPCTIT DVWISEEKET KETQSADRIT IQENEVSEDG VSSTVDQLSD
   961  IHIEPGTNDS QHSKCDVDKS VQPEPFFHKV VHSEHLNLVP QVQSVQCSPE ESFAFRSHSH
  1021  LPPKNKNKNS LLIGLSTGLF DANNPKMLRT CSLPDLSKLF RTLMDVPTVG DVRQDNLEID
  1081  EIEDENIKEG PSDSEDIVFE ETDTDLQELQ ASMEQLLREQ PGEEYSEEEE SVLKNSDVEP
  1141  TANGTDVADE DDNPSSESAL NEEWHSDNSD GEIASECECD SVFNHLEELR LHLEQEMGFE
  1201  KFFEVYEKIK AIHEDEDENI EICSKIVQNI LGNEHQHLYA KILHLVMADG AYQEDNDE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NEK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.55
Highest tissue expression: 8.4 nTPM

Expression across tissuesHPA

Tissue

testis: 8.4 nTPM
ovary: 8.1 nTPM
fallopian tube: 6.9 nTPM
cervix: 6.8 nTPM
thyroid gland: 6.4 nTPM
endometrium: 6.2 nTPM

Single-cell type

endometrial ciliated cells: 458 nCPM
somatotrophs: 448 nCPM
respiratory ciliated cells: 349 nCPM
ependymal cells: 327 nCPM
schwann cells: 297 nCPM
epididymal efferent duct ciliated cells: 291 nCPM

Immune cell

basophil: 3.9 nTPM
naive CD8 T-cell: 2.5 nTPM
naive CD4 T-cell: 2.3 nTPM
MAIT T-cell: 2 nTPM
naive B-cell: 1.7 nTPM
memory CD8 T-cell: 1.5 nTPM

Brain region

hypothalamus: 12 nTPM
medulla oblongata: 11 nTPM
midbrain: 11 nTPM
spinal cord: 11 nTPM
white matter: 9.7 nTPM
pons: 9.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NEK1.

Disease | AllUniProt

Conditions NEK1 is implicated in, by any mechanism.

Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) MIM:263520
Amyotrophic lateral sclerosis 24 (ALS24) MIM:617892
Orofaciodigital syndrome 2 (OFD2) MIM:252100

Disease | GeneticClinVar

111 pathogenic / likely-pathogenic of 1,055 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder
Amyotrophic lateral sclerosis, susceptibility to, 24
Motor neuron disease
Mohr syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.86
gnomAD pLI: 0
gnomAD missense Z: 1.07
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NEK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NEK1 as an antibody target. Whether an autoantibody or antibody against NEK1 could matter depends on whether native NEK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NEK1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NEK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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