Format

Send to:

Choose Destination

CDKL1 cyclin dependent kinase like 1 [ Homo sapiens (human) ]

Gene ID: 8814, updated on 5-Sep-2021

Summary

Official Symbol
CDKL1provided by HGNC
Official Full Name
cyclin dependent kinase like 1provided by HGNC
Primary source
HGNC:HGNC:1781
See related
Ensembl:ENSG00000100490 MIM:603441
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
P42; KKIALRE
Summary
This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018]
Expression
Ubiquitous expression in kidney (RPKM 3.9), endometrium (RPKM 2.6) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CDKL1 in Genome Data Viewer
Location:
14q21.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (50326265..50397399, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50792983..50864016, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SOS Ras/Rho guanine nucleotide exchange factor 2 Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene microRNA 4504 Neighboring gene distal membrane arm assembly component 2 like Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene zinc finger protein 678 pseudogene Neighboring gene atlastin GTPase 1 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 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?

Phenotypes

Associated conditions

Description Tests
Common genetic variation and performance on standardized cognitive tests.
GeneReviews: Not available
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables cyclin-dependent protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in ciliary transition zone ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
cyclin-dependent kinase-like 1
Names
cyclin-dependent kinase-like 1 (CDC2-related kinase)
protein kinase p42 KKIALRE
serine/threonine protein kinase KKIALRE
NP_001269165.1
NP_001353993.1
NP_001353994.1
NP_004187.3
XP_005268214.1
XP_005268217.1
XP_011535578.1
XP_016877219.1
XP_016877221.1

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.

mRNA and Protein(s)

  1. NM_001282236.2NP_001269165.1  cyclin-dependent kinase-like 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK308732, AL359397, BX099583
    Consensus CDS
    CCDS73637.1
    UniProtKB/TrEMBL
    J3KMW1
    Related
    ENSP00000216378.2, ENST00000216378.2
    Conserved Domains (2) summary
    cd07847
    Location:3267
    STKc_CDKL1_4; Catalytic domain of the Serine/Threonine Kinases, Cyclin-Dependent protein Kinase Like 1 and 4
    pfam00069
    Location:5225
    Pkinase; Protein kinase domain
  2. NM_001367064.1NP_001353993.1  cyclin-dependent kinase-like 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL359397
    Conserved Domains (1) summary
    cd07847
    Location:3266
    STKc_CDKL1_4; Catalytic domain of the Serine/Threonine Kinases, Cyclin-Dependent protein Kinase Like 1 and 4
  3. NM_001367065.1NP_001353994.1  cyclin-dependent kinase-like 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL359397
    Conserved Domains (1) summary
    cd07847
    Location:3266
    STKc_CDKL1_4; Catalytic domain of the Serine/Threonine Kinases, Cyclin-Dependent protein Kinase Like 1 and 4
  4. NM_004196.7NP_004187.3  cyclin-dependent kinase-like 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL359397
    Consensus CDS
    CCDS9699.1
    Related
    ENSP00000379176.2, ENST00000395834.6
    Conserved Domains (1) summary
    cd07847
    Location:2287
    STKc_CDKL1_4; Catalytic domain of the Serine/Threonine Kinases, Cyclin-Dependent protein Kinase Like 1 and 4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    50326265..50397399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537276.1XP_011535578.1  cyclin-dependent kinase-like 1 isoform X2

    Conserved Domains (2) summary
    pfam00069
    Location:6238
    Pkinase; Protein kinase domain
    cl21453
    Location:4238
    PKc_like; Protein Kinases, catalytic domain
  2. XM_005268160.4XP_005268217.1  cyclin-dependent kinase-like 1 isoform X5

    Conserved Domains (1) summary
    cl21453
    Location:9174
    PKc_like; Protein Kinases, catalytic domain
  3. XM_005268157.3XP_005268214.1  cyclin-dependent kinase-like 1 isoform X1

    See identical proteins and their annotated locations for XP_005268214.1

    UniProtKB/Swiss-Prot
    Q00532
    Conserved Domains (1) summary
    cd07847
    Location:3288
    STKc_CDKL1_4; Catalytic domain of the Serine/Threonine Kinases, Cyclin-Dependent protein Kinase Like 1 and 4
  4. XM_017021730.1XP_016877219.1  cyclin-dependent kinase-like 1 isoform X3

    Conserved Domains (1) summary
    cd07847
    Location:3266
    STKc_CDKL1_4; Catalytic domain of the Serine/Threonine Kinases, Cyclin-Dependent protein Kinase Like 1 and 4
  5. XM_017021732.1XP_016877221.1  cyclin-dependent kinase-like 1 isoform X4

    Conserved Domains (2) summary
    cd07847
    Location:3266
    STKc_CDKL1_4; Catalytic domain of the Serine/Threonine Kinases, Cyclin-Dependent protein Kinase Like 1 and 4
    pfam00069
    Location:5225
    Pkinase; Protein kinase domain

RNA

  1. XR_001750577.2 RNA Sequence

  2. XR_943549.2 RNA Sequence

Support Center