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

Gene ID: 4750, updated on 12-May-2016
Official Symbol
NEK1provided by HGNC
Official Full Name
NIMA related kinase 1provided by HGNC
Primary source
HGNC:HGNC:7744
See related
Ensembl:ENSG00000137601 HPRD:06847; MIM:604588; Vega:OTTHUMG00000160963
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
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]
Orthologs
Location:
4q33
Exon count:
37
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (169393270..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 uncharacterized LOC105377528 Neighboring gene uncharacterized LOC105377529 Neighboring gene chloride voltage-gated channel 3 Neighboring gene histone PARylation factor 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Short rib-polydactyly syndrome, Majewski type
MedGen: C0024507 OMIM: 263520 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1901, MGC138800, DKFZp686D06121, DKFZp686K12169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
receptor signaling protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
pericentriolar material IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
serine/threonine-protein kinase Nek1
Names
NIMA (never in mitosis gene a)-related kinase 1
NIMA-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_036356.1

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
    5001..224358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB067488, AC084724, AC116615, AC116621, AI984346, AK025658, DA697159
    Consensus CDS
    CCDS56351.1
    UniProtKB/Swiss-Prot
    Q96PY6
    Related
    ENSP00000424757, OTTHUMP00000219434, ENST00000507142, OTTHUMT00000363174
    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_001199398.1NP_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, OTTHUMP00000219433, ENST00000511633, OTTHUMT00000363173
    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_001199399.1NP_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)
    AI984346, AK025658, BC114491, CR933642, DA697159
    Consensus CDS
    CCDS56348.1
    UniProtKB/Swiss-Prot
    Q96PY6
    Related
    ENSP00000424938, OTTHUMP00000219435, ENST00000512193, OTTHUMT00000363175
    Conserved Domains (3) 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
    cl00216
    Location:364419
    L-asparaginase_like; Bacterial L-asparaginases and related enzymes
  4. NM_001199400.1NP_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, AI984346, AK025658, CR933642, CR936672, DA697159
    Consensus CDS
    CCDS56349.1
    UniProtKB/Swiss-Prot
    Q96PY6
    Related
    ENSP00000427653, OTTHUMP00000219432, ENST00000510533, OTTHUMT00000363172
    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_012224.2NP_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.
    Source sequence(s)
    AB067488, AI984346, AK025658, CR933642, DA697159
    Consensus CDS
    CCDS47162.1
    UniProtKB/Swiss-Prot
    Q96PY6
    Related
    ENSP00000408020, OTTHUMP00000219422, ENST00000439128, OTTHUMT00000363157
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    169393270..169612629 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532004.1XP_011530306.1  

    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
  2. XM_011532003.1XP_011530305.1  

    See identical proteins and their annotated locations for XP_011530305.1

    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
  3. XM_006714228.1XP_006714291.1  

    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
  4. XM_011532005.1XP_011530307.1  

    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

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    170290871..170510372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)