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

Gene ID: 8814, updated on 10-Oct-2024

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; AllianceGenome:HGNC:1781
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
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Genomic context

See CDKL1 in Genome Data Viewer
Location:
14q21.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50326265..50397298, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (44532486..44603508, complement)
RS_2024_09 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 OCT4-NANOG hESC enhancer GRCh37_chr14:50605652-50606356 Neighboring gene SOS Ras/Rho guanine nucleotide exchange factor 2 Neighboring gene NANOG hESC enhancer GRCh37_chr14:50692526-50693052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8354 Neighboring gene MPRA-validated peak2154 silencer Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:50766206-50766899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8355 Neighboring gene microRNA 4504 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50802261-50802882 Neighboring gene Sharpr-MPRA regulatory region 14884 Neighboring gene distal membrane arm assembly component 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8357 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:50832542-50832707 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50838021-50838522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50838523-50839022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:50863511-50864010 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene zinc finger protein 678 pseudogene Neighboring gene uncharacterized LOC124903312

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

EBI GWAS Catalog

Description
Common genetic variation and performance on standardized cognitive tests.
EBI GWAS Catalog
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 IEA
Inferred from Electronic Annotation
more info
 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
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
 

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_001269165.2
NP_001353993.2
NP_001353994.2
NP_001410690.1
NP_001410691.1
NP_001410692.1
NP_001410693.1
NP_001410694.1
NP_001410695.1
NP_001410696.1
NP_001410697.1
NP_001410698.1
NP_004187.3
XP_005268217.1
XP_016877221.1
XP_047287797.1
XP_054232840.1
XP_054232841.1

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.

mRNA and Protein(s)

  1. NM_001282236.3NP_001269165.2  cyclin-dependent kinase-like 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL359397
    Consensus CDS
    CCDS73637.1
    Related
    ENSP00000216378.2, ENST00000216378.2
  2. NM_001367064.3NP_001353993.2  cyclin-dependent kinase-like 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL359397
  3. NM_001367065.3NP_001353994.2  cyclin-dependent kinase-like 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL359397
  4. NM_001423761.1NP_001410690.1  cyclin-dependent kinase-like 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL359397
    UniProtKB/Swiss-Prot
    J3KMW1, Q00532, Q2M3A4, Q6QUA0, Q8WXQ5
    UniProtKB/TrEMBL
    A0A9S7JKS7
  5. NM_001423762.1NP_001410691.1  cyclin-dependent kinase-like 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL359397
    UniProtKB/Swiss-Prot
    J3KMW1, Q00532, Q2M3A4, Q6QUA0, Q8WXQ5
    UniProtKB/TrEMBL
    A0A9S7JKS7
  6. NM_001423763.1NP_001410692.1  cyclin-dependent kinase-like 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL359397
    UniProtKB/Swiss-Prot
    J3KMW1, Q00532, Q2M3A4, Q6QUA0, Q8WXQ5
    UniProtKB/TrEMBL
    A0A9S7JKS7
  7. NM_001423764.1NP_001410693.1  cyclin-dependent kinase-like 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL359397
  8. NM_001423765.1NP_001410694.1  cyclin-dependent kinase-like 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL359397
  9. NM_001423766.1NP_001410695.1  cyclin-dependent kinase-like 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL359397
  10. NM_001423767.1NP_001410696.1  cyclin-dependent kinase-like 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL359397
  11. NM_001423768.1NP_001410697.1  cyclin-dependent kinase-like 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL359397
  12. NM_001423769.1NP_001410698.1  cyclin-dependent kinase-like 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL359397
  13. NM_004196.7NP_004187.3  cyclin-dependent kinase-like 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL359397
    Consensus CDS
    CCDS9699.2
    UniProtKB/Swiss-Prot
    J3KMW1, Q00532, Q2M3A4, Q6QUA0, Q8WXQ5
    UniProtKB/TrEMBL
    A0A9S7JKS7
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    50326265..50397298 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431841.1XP_047287797.1  cyclin-dependent kinase-like 1 isoform X3

  2. XM_005268160.5XP_005268217.1  cyclin-dependent kinase-like 1 isoform X6

    Conserved Domains (1) summary
    cl21453
    Location:9174
    PKc_like; Protein Kinases, catalytic domain
  3. XM_017021732.2XP_016877221.1  cyclin-dependent kinase-like 1 isoform X4

    UniProtKB/TrEMBL
    A0A5H1ZRP5
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    44532486..44603508 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376865.1XP_054232840.1  cyclin-dependent kinase-like 1 isoform X3

  2. XM_054376866.1XP_054232841.1  cyclin-dependent kinase-like 1 isoform X4