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NEK1 NIMA related kinase 1 [ Homo sapiens (human) ]

Gene ID: 4750, updated on 20-Dec-2019

Summary

Official Symbol
NEK1provided by HGNC
Official Full Name
NIMA related kinase 1provided by HGNC
Primary source
HGNC:HGNC:7744
See related
Ensembl:ENSG00000137601 MIM:604588
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALS24; SRPS2; SRTD6; SRPS2A; NY-REN-55
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 6.8), brain (RPKM 4.8) and 25 other tissues See more
Orthologs

Genomic context

See NEK1 in Genome Data Viewer
Location:
4q33
Exon count:
38
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (169392809..169612629, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (170314421..170533778, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene SH3 domain containing ring finger 1 Neighboring gene ribosomal protein L6 pseudogene 12 Neighboring gene uncharacterized LOC105377529 Neighboring gene chloride voltage-gated channel 3 Neighboring gene histone PARylation factor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1901, MGC138800, DKFZp686D06121, DKFZp686K12169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
14-3-3 protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA damage response, detection of DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction by protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
centriolar satellite IDA
Inferred from Direct Assay
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
pericentriolar material IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
serine/threonine-protein kinase Nek1
Names
NIMA (never in mitosis gene a)-related kinase 1
never in mitosis A-related kinase 1
nimA-related protein kinase 1
protein-serine/threonine kinase
renal carcinoma antigen NY-REN-55
NP_001186326.1
NP_001186327.1
NP_001186328.1
NP_001186329.1
NP_001361347.1
NP_001361348.1
NP_001361349.1
NP_001361350.1
NP_001361351.1
NP_001361352.1
NP_036356.1
XP_006714291.1
XP_011530306.1
XP_011530307.1
XP_016863738.1
XP_016863740.1
XP_016863741.1
XP_016863742.1
XP_016863743.1
XP_024309833.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027982.1 RefSeqGene

    Range
    5045..224771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199397.3NP_001186326.1  serine/threonine-protein kinase Nek1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 6 both encode the same isoform (1).
    Source sequence(s)
    AC084724, AC116615, AC116621
    Consensus CDS
    CCDS56351.1
    UniProtKB/Swiss-Prot
    Q96PY6
    Related
    ENSP00000424757.1, ENST00000507142.5
    Conserved Domains (2) summary
    smart00220
    Location:4258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  2. NM_001199398.2NP_001186327.1  serine/threonine-protein kinase Nek1 isoform 3

    See identical proteins and their annotated locations for NP_001186327.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC084724, AC116615, AC116621, AI984346, AK025658, AL050385, DA697159
    Consensus CDS
    CCDS56350.1
    UniProtKB/Swiss-Prot
    Q96PY6
    UniProtKB/TrEMBL
    Q5JXL9
    Related
    ENSP00000423332.1, ENST00000511633.5
    Conserved Domains (2) summary
    smart00220
    Location:4258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  3. NM_001199399.2NP_001186328.1  serine/threonine-protein kinase Nek1 isoform 4

    See identical proteins and their annotated locations for NP_001186328.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC116615, AI984346, AK025658, BC114491, CR933642, DA697159
    Consensus CDS
    CCDS56348.1
    UniProtKB/Swiss-Prot
    Q96PY6
    Related
    ENSP00000424938.1, ENST00000512193.5
    Conserved Domains (2) summary
    smart00220
    Location:4258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  4. NM_001199400.2NP_001186329.1  serine/threonine-protein kinase Nek1 isoform 5

    See identical proteins and their annotated locations for NP_001186329.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB067488, AC116615, AI984346, AK025658, CR933642, CR936672, DA697159
    Consensus CDS
    CCDS56349.1
    UniProtKB/Swiss-Prot
    Q96PY6
    Related
    ENSP00000427653.1, ENST00000510533.5
    Conserved Domains (2) summary
    smart00220
    Location:4258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  5. NM_001374418.1NP_001361347.1  serine/threonine-protein kinase Nek1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 1, encodes isoform 1.
    Source sequence(s)
    AC084724, AC116615, AC116621
  6. NM_001374419.1NP_001361348.1  serine/threonine-protein kinase Nek1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 2, encodes isoform 2.
    Source sequence(s)
    AC084724, AC116615, AC116621
  7. NM_001374420.1NP_001361349.1  serine/threonine-protein kinase Nek1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084724, AC116615, AC116621
  8. NM_001374421.1NP_001361350.1  serine/threonine-protein kinase Nek1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC084724, AC116615, AC116621
  9. NM_001374422.1NP_001361351.1  serine/threonine-protein kinase Nek1 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variant 11, encodes isoform 8.
    Source sequence(s)
    AC084724
  10. NM_001374423.1NP_001361352.1  serine/threonine-protein kinase Nek1 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variant 10, encodes isoform 8.
    Source sequence(s)
    AC084724
  11. NM_012224.3NP_036356.1  serine/threonine-protein kinase Nek1 isoform 2

    See identical proteins and their annotated locations for NP_036356.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 7 both encode the same isoform (2).
    Source sequence(s)
    AB067488, AC116615, AI984346, AK025658, CR933642, DA697159
    Consensus CDS
    CCDS47162.1
    UniProtKB/Swiss-Prot
    Q96PY6
    Related
    ENSP00000408020.2, ENST00000439128.6
    Conserved Domains (2) summary
    smart00220
    Location:4258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1

RNA

  1. NR_164630.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC084724, AC116615, AC116621
  2. NR_164631.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC084724

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    169392809..169612629 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008251.1XP_016863740.1  serine/threonine-protein kinase Nek1 isoform X5

  2. XM_017008249.1XP_016863738.1  serine/threonine-protein kinase Nek1 isoform X4

    Conserved Domains (2) summary
    cl21453
    Location:151
    PKc_like; Protein Kinases, catalytic domain
    cl26511
    Location:293582
    Neuromodulin_N; Gap junction protein N-terminal region
  3. XM_024454065.1XP_024309833.1  serine/threonine-protein kinase Nek1 isoform X4

    Conserved Domains (2) summary
    cl21453
    Location:151
    PKc_like; Protein Kinases, catalytic domain
    cl26511
    Location:293582
    Neuromodulin_N; Gap junction protein N-terminal region
  4. XM_017008253.1XP_016863742.1  serine/threonine-protein kinase Nek1 isoform X6

  5. XM_011532004.1XP_011530306.1  serine/threonine-protein kinase Nek1 isoform X3

    See identical proteins and their annotated locations for XP_011530306.1

    UniProtKB/Swiss-Prot
    Q96PY6
    Conserved Domains (2) summary
    smart00220
    Location:4258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  6. XM_006714228.1XP_006714291.1  serine/threonine-protein kinase Nek1 isoform X2

    Conserved Domains (2) summary
    smart00220
    Location:4258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  7. XM_017008252.2XP_016863741.1  serine/threonine-protein kinase Nek1 isoform X5

  8. XM_017008254.1XP_016863743.1  serine/threonine-protein kinase Nek1 isoform X7

  9. XM_011532005.2XP_011530307.1  serine/threonine-protein kinase Nek1 isoform X8

    Conserved Domains (2) summary
    smart00220
    Location:4258
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1

RNA

  1. XR_001741233.1 RNA Sequence

  2. XR_001741234.2 RNA Sequence

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