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

    Gene ID: 4750, updated on 5-May-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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

    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

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

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

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

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

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

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

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

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

    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

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

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

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

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

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

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

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

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

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

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

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

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