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

Gene ID: 4750, updated on 17-Jun-2024

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; AllianceGenome:HGNC:7744
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
OFD2; 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
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Genomic context

See NEK1 in Genome Data Viewer
Location:
4q33
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (169392809..169612583, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (172752512..172972332, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (170313960..170533734, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene SH3 domain containing ring finger 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22132 Neighboring gene ribosomal protein L6 pseudogene 12 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:170146248-170147447 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:170150634-170151313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:170161764-170162264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:170162265-170162765 Neighboring gene Sharpr-MPRA regulatory region 2565 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:170172321-170173520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15792 Neighboring gene uncharacterized LOC105377529 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:170211490-170211654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170232766-170233314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:170256304-170256981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22135 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:170291383-170291609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22143 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:170581329-170582201 Neighboring gene Sharpr-MPRA regulatory region 12659 Neighboring gene chloride voltage-gated channel 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22145 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

Clone Names

  • KIAA1901, MGC138800, DKFZp686D06121, DKFZp686K12169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 14-3-3 protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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_011530306.1
XP_011530307.1
XP_047271687.1
XP_047271688.1
XP_047271689.1
XP_047271690.1
XP_047271691.1
XP_047271692.1
XP_047271693.1
XP_047271694.1
XP_047271695.1
XP_047271696.1
XP_047271697.1
XP_054206076.1
XP_054206077.1
XP_054206078.1
XP_054206079.1
XP_054206080.1
XP_054206081.1
XP_054206082.1
XP_054206083.1
XP_054206084.1
XP_054206085.1
XP_054206086.1
XP_054206087.1
XP_054206088.1

NCBI Reference Sequences (RefSeq)

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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..224819
    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/TrEMBL
    A0A8I5KRM5
    Related
    ENSP00000424757.2, ENST00000507142.6
    Conserved Domains (1) summary
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  2. NM_001199398.3NP_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/TrEMBL
    A0A8I5KRM5
    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_001199399.3NP_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/TrEMBL
    A0A8I5KRM5
    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_001199400.3NP_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/TrEMBL
    A0A8I5KRM5
    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
    Consensus CDS
    CCDS56351.1
    UniProtKB/TrEMBL
    A0A8I5KRM5
    Conserved Domains (1) summary
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  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
    Consensus CDS
    CCDS47162.1
    UniProtKB/Swiss-Prot
    G5E9Z3, Q05DG5, Q14CB7, Q5H9T1, Q6PIB8, Q96PY6, Q96SS2, Q9H6P7, Q9Y594
    UniProtKB/TrEMBL
    A0A8I5KRM5
    Related
    ENSP00000509309.1, ENST00000687643.1
    Conserved Domains (1) summary
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  7. NM_001374420.1NP_001361349.1  serine/threonine-protein kinase Nek1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084724, AC116615, AC116621
    UniProtKB/TrEMBL
    A0A8I5KRM5
    Conserved Domains (1) summary
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  8. NM_001374421.1NP_001361350.1  serine/threonine-protein kinase Nek1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC084724, AC116615, AC116621
    Consensus CDS
    CCDS93668.1
    UniProtKB/TrEMBL
    A0A8I5KRM5, A0A8I5KUL6
    Related
    ENSP00000508689.1, ENST00000686697.1
    Conserved Domains (1) summary
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  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
    UniProtKB/TrEMBL
    H0Y8M6
    Related
    ENST00000688653.1
    Conserved Domains (1) summary
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  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
    UniProtKB/TrEMBL
    H0Y8M6
    Related
    ENST00000692218.1
    Conserved Domains (1) summary
    cd08218
    Location:3258
    STKc_Nek1; Catalytic domain of the Protein Serine/Threonine Kinase, Never In Mitosis gene A (NIMA)-related kinase 1
  11. NM_012224.4NP_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
    G5E9Z3, Q05DG5, Q14CB7, Q5H9T1, Q6PIB8, Q96PY6, Q96SS2, Q9H6P7, Q9Y594
    UniProtKB/TrEMBL
    A0A8I5KRM5
    Related
    ENSP00000408020.2, ENST00000439128.6
    Conserved Domains (1) summary
    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
    Related
    ENST00000692868.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    169392809..169612583 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415736.1XP_047271692.1  serine/threonine-protein kinase Nek1 isoform X6

    UniProtKB/TrEMBL
    A0A8I5KRM5
  2. XM_011532004.2XP_011530306.1  serine/threonine-protein kinase Nek1 isoform X3

    See identical proteins and their annotated locations for XP_011530306.1

    UniProtKB/TrEMBL
    A0A8I5KRM5
    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. XM_047415735.1XP_047271691.1  serine/threonine-protein kinase Nek1 isoform X5

    UniProtKB/TrEMBL
    A0A8I5KRM5
  4. XM_047415733.1XP_047271689.1  serine/threonine-protein kinase Nek1 isoform X4

    UniProtKB/TrEMBL
    A0A8I5KRM5
  5. XM_047415731.1XP_047271687.1  serine/threonine-protein kinase Nek1 isoform X1

    UniProtKB/TrEMBL
    A0A8I5KRM5
  6. XM_047415734.1XP_047271690.1  serine/threonine-protein kinase Nek1 isoform X4

    UniProtKB/TrEMBL
    A0A8I5KRM5
  7. XM_047415732.1XP_047271688.1  serine/threonine-protein kinase Nek1 isoform X2

    UniProtKB/TrEMBL
    A0A8I5KRM5
  8. XM_047415739.1XP_047271695.1  serine/threonine-protein kinase Nek1 isoform X8

    UniProtKB/TrEMBL
    A0A8I5KSI3
  9. XM_047415737.1XP_047271693.1  serine/threonine-protein kinase Nek1 isoform X7

    UniProtKB/TrEMBL
    A0A8I5KSI3
  10. XM_047415738.1XP_047271694.1  serine/threonine-protein kinase Nek1 isoform X7

    UniProtKB/TrEMBL
    A0A8I5KSI3
    Related
    ENST00000685677.1
  11. XM_047415740.1XP_047271696.1  serine/threonine-protein kinase Nek1 isoform X9

    UniProtKB/TrEMBL
    A0A8I5KWD5
  12. XM_011532005.3XP_011530307.1  serine/threonine-protein kinase Nek1 isoform X10

    UniProtKB/TrEMBL
    A0A8I5KWD5
    Related
    ENSP00000510228.1, ENST00000687528.1
    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
  13. XM_047415741.1XP_047271697.1  serine/threonine-protein kinase Nek1 isoform X11

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    172752512..172972332 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350107.1XP_054206082.1  serine/threonine-protein kinase Nek1 isoform X6

    UniProtKB/TrEMBL
    A0A8I5KRM5
  2. XM_054350103.1XP_054206078.1  serine/threonine-protein kinase Nek1 isoform X3

    UniProtKB/TrEMBL
    A0A8I5KRM5
  3. XM_054350106.1XP_054206081.1  serine/threonine-protein kinase Nek1 isoform X5

    UniProtKB/TrEMBL
    A0A8I5KRM5
  4. XM_054350104.1XP_054206079.1  serine/threonine-protein kinase Nek1 isoform X4

    UniProtKB/TrEMBL
    A0A8I5KRM5
  5. XM_054350101.1XP_054206076.1  serine/threonine-protein kinase Nek1 isoform X1

    UniProtKB/TrEMBL
    A0A8I5KRM5
  6. XM_054350105.1XP_054206080.1  serine/threonine-protein kinase Nek1 isoform X4

    UniProtKB/TrEMBL
    A0A8I5KRM5
  7. XM_054350102.1XP_054206077.1  serine/threonine-protein kinase Nek1 isoform X2

    UniProtKB/TrEMBL
    A0A8I5KRM5
  8. XM_054350110.1XP_054206085.1  serine/threonine-protein kinase Nek1 isoform X8

    UniProtKB/TrEMBL
    A0A8I5KSI3
  9. XM_054350108.1XP_054206083.1  serine/threonine-protein kinase Nek1 isoform X7

    UniProtKB/TrEMBL
    A0A8I5KSI3
  10. XM_054350109.1XP_054206084.1  serine/threonine-protein kinase Nek1 isoform X7

    UniProtKB/TrEMBL
    A0A8I5KSI3
  11. XM_054350111.1XP_054206086.1  serine/threonine-protein kinase Nek1 isoform X9

    UniProtKB/TrEMBL
    A0A8I5KWD5
  12. XM_054350112.1XP_054206087.1  serine/threonine-protein kinase Nek1 isoform X10

    UniProtKB/TrEMBL
    A0A8I5KWD5
  13. XM_054350113.1XP_054206088.1  serine/threonine-protein kinase Nek1 isoform X11