CAMK1D calcium/calmodulin dependent protein kinase ID [Homo sapiens (human)] - Gene

Summary

Official Symbol: CAMK1Dprovided by HGNC
Official Full Name: calcium/calmodulin dependent protein kinase IDprovided by HGNC
Primary source: HGNC:HGNC:19341
See related: Ensembl:ENSG00000183049 MIM:607957; AllianceGenome:HGNC:19341
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: CKLiK; CaM-K1; CaMKID
Summary: This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]
Expression: Broad expression in brain (RPKM 10.9), skin (RPKM 4.6) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p13

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (12349547..12835545)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (12360834..12849903)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (12391546..12877545)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircPRKCI regulates proliferation, migration and cycle of lung adenocarcinoma cells by targeting miR-219a-5p-regulated CAMK1D.
Title: CircPRKCI regulates proliferation, migration and cycle of lung adenocarcinoma cells by targeting miR-219a-5p-regulated CAMK1D.
Associations of SUCNR1, GRK4, CAMK1D gene polymorphisms and the susceptibility of type 2 diabetes mellitus and essential hypertension in a northern Chinese Han population.
Title: Associations of SUCNR1, GRK4, CAMK1D gene polymorphisms and the susceptibility of type 2 diabetes mellitus and essential hypertension in a northern Chinese Han population.
CAMK1D Triggers Immune Resistance of Human Tumor Cells Refractory to Anti-PD-L1 Treatment.
Title: CAMK1D Triggers Immune Resistance of Human Tumor Cells Refractory to Anti-PD-L1 Treatment.
Cross-talk between eIF5A and CAMK1D enhances proliferation.
Title: Eukaryotic initiation factor 5A and Ca(2+) /calmodulin-dependent protein kinase 1D modulate trophoblast cell function.
There were no statistically significant differences in the distribution of CDC123/CAMK1D rs12779790 genotypes and alleles between women with gestational diabetes mellitus and healthy pregnant women.
Title: CDC123/CAMK1D gene rs12779790 polymorphism and rs10811661 polymorphism upstream of the CDKN2A/2B gene in women with gestational diabetes.
identified the CAMK1D gene as a novel locus associated with blood pressure response to losartan
Title: Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study.
Substantiation of the roles of CAMK1D and CDKAL1 in gluconeogenic and glyconeogenic pathways in primary human hepatocytes.
Title: RNAi screening in primary human hepatocytes of genes implicated in genome-wide association studies for roles in type 2 diabetes identifies roles for CAMK1D and CDKAL1, among others, in hepatic glucose regulation.
Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDKN2A/2B), rs4402960 (IGF2BP2), rs12779790 (CDC123/CAMK1D), and rs2237892 (KCNQ1).
Title: Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.
A significant association of rs10906115 in CDC123/CAMK1D and rs1359790 near SPRY2 was identified with type 2 diabetes in a Japanese population.
Title: Genetic variants at CDC123/CAMK1D and SPRY2 are associated with susceptibility to type 2 diabetes in the Japanese population.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. EBI GWAS Catalog EBI GWAS CatalogPubMed
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of new genetic risk variants for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of calcium/calmodulin-dependent protein kinase ID (CAMK1D) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-153341 (e-PCR)
- UniSTS:177687

D10S236E (e-PCR)
- UniSTS:21018

D11S2560 (e-PCR)
- UniSTS:37928

SHGC-32225 (e-PCR)
- UniSTS:82990

D10S236E (e-PCR)
- UniSTS:147523

SHGC-79342 (e-PCR)
- UniSTS:103245

SHGC-149390 (e-PCR)
- UniSTS:176975

SHGC-6785 (e-PCR)
- UniSTS:41042

SHGC-132068 (e-PCR)
- UniSTS:170626

D10S1705 (e-PCR)
- UniSTS:82578

G17442 (e-PCR)
- UniSTS:14745

D10S2365 (e-PCR)
- UniSTS:7578

SHGC-146855 (e-PCR)
- UniSTS:172700

RH47896 (e-PCR)
- UniSTS:65950

D10S2325 (e-PCR), detects polymorphism
- UniSTS:36532

SHGC-84721 (e-PCR)
- UniSTS:104116

SHGC-141926 (e-PCR)
- UniSTS:182205

SHGC-148366 (e-PCR)
- UniSTS:176354

GDB:315097 (e-PCR)
- UniSTS:3051

D10S236E (e-PCR)
- UniSTS:147441

D10S1430 (e-PCR), detects polymorphism
- UniSTS:25597

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calcium/calmodulin-dependent protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium/calmodulin-dependent protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of CREB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neutrophil chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phagocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of respiratory burst	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of granulocyte chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of granulocyte chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: calcium/calmodulin-dependent protein kinase type 1D

Names: CAMK1D/ANAPC5 fusion; CaM kinase ID; CamKI-like protein kinase; caM kinase I delta; caM-KI delta; caMKI delta

NP_001337961.1

EC 2.7.11.17

NP_065130.1

EC 2.7.11.17

NP_705718.1

EC 2.7.11.17

XP_006717545.1

EC 2.7.11.17

XP_006717546.1

EC 2.7.11.17

XP_011517893.1

EC 2.7.11.17

XP_011517894.1

EC 2.7.11.17

XP_011517895.1

EC 2.7.11.17

XP_011517897.1

EC 2.7.11.17

XP_047281493.1

EC 2.7.11.17

XP_054222341.1

EC 2.7.11.17

XP_054222342.1

EC 2.7.11.17

XP_054222343.1

EC 2.7.11.17

XP_054222344.1

EC 2.7.11.17

XP_054222345.1

EC 2.7.11.17

XP_054222346.1

EC 2.7.11.17

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)

NM_001351032.2 → NP_001337961.1 calcium/calmodulin-dependent protein kinase type 1D isoform 3

Status: REVIEWED

Source sequence(s)

AA903749, AF286366, AK289393, AL391314, AL512783, BQ059621, HY156642

Conserved Domains (1) summary

cl21453
Location:1 → 215

PKc_like; Protein Kinases, catalytic domain
NM_020397.4 → NP_065130.1 calcium/calmodulin-dependent protein kinase type 1D isoform 1

See identical proteins and their annotated locations for NP_065130.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks the 3' terminal exon used in variant 2, and its 3' terminal exon extends past a splice site that is used in variant 2. It encodes isoform 1, which has a shorter and distinct C-terminus, compared to isoform 2.

Source sequence(s)

AA903749, AF286366, AK289393, AL512783, BQ059621, HY168807

Consensus CDS

CCDS7092.1

UniProtKB/TrEMBL

Q5SQQ7

Related

ENSP00000368122.1, ENST00000378845.5

Conserved Domains (1) summary

cd14168
Location:12 → 312

STKc_CaMKI_delta; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I delta
NM_153498.4 → NP_705718.1 calcium/calmodulin-dependent protein kinase type 1D isoform 2

See identical proteins and their annotated locations for NP_705718.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).

Source sequence(s)

AB081726, AK289393, AL512783, BC035745, BC073155, HY168807, KF510334

Consensus CDS

CCDS7091.1

UniProtKB/Swiss-Prot

B0YIY0, Q8IU85, Q9HD31

Related

ENSP00000478874.1, ENST00000619168.5

Conserved Domains (1) summary

cd14168
Location:12 → 312

STKc_CaMKI_delta; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I delta

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

12349547..12835545

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006717483.5 → XP_006717546.1 calcium/calmodulin-dependent protein kinase type 1D isoform X3

See identical proteins and their annotated locations for XP_006717546.1

Conserved Domains (1) summary

cd14168
Location:12 → 312

STKc_CaMKI_delta; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I delta
XM_006717482.4 → XP_006717545.1 calcium/calmodulin-dependent protein kinase type 1D isoform X2

Conserved Domains (1) summary

cd14168
Location:12 → 312

STKc_CaMKI_delta; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I delta
XM_047425537.1 → XP_047281493.1 calcium/calmodulin-dependent protein kinase type 1D isoform X6
XM_011519591.4 → XP_011517893.1 calcium/calmodulin-dependent protein kinase type 1D isoform X1

Conserved Domains (1) summary

cd14083
Location:18 → 265

STKc_CaMKI; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I
XM_011519595.4 → XP_011517897.1 calcium/calmodulin-dependent protein kinase type 1D isoform X6

See identical proteins and their annotated locations for XP_011517897.1

Conserved Domains (1) summary

cl21453
Location:1 → 215

PKc_like; Protein Kinases, catalytic domain
XM_011519593.4 → XP_011517895.1 calcium/calmodulin-dependent protein kinase type 1D isoform X5

Conserved Domains (2) summary

smart00220
Location:1 → 205

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl21453
Location:2 → 238

PKc_like; Protein Kinases, catalytic domain
XM_011519592.4 → XP_011517894.1 calcium/calmodulin-dependent protein kinase type 1D isoform X4

Conserved Domains (2) summary

smart00220
Location:6 → 209

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl21453
Location:6 → 242

PKc_like; Protein Kinases, catalytic domain

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

12360834..12849903

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366368.1 → XP_054222343.1 calcium/calmodulin-dependent protein kinase type 1D isoform X3
XM_054366367.1 → XP_054222342.1 calcium/calmodulin-dependent protein kinase type 1D isoform X2
XM_054366366.1 → XP_054222341.1 calcium/calmodulin-dependent protein kinase type 1D isoform X1
XM_054366371.1 → XP_054222346.1 calcium/calmodulin-dependent protein kinase type 1D isoform X6
XM_054366370.1 → XP_054222345.1 calcium/calmodulin-dependent protein kinase type 1D isoform X5
XM_054366369.1 → XP_054222344.1 calcium/calmodulin-dependent protein kinase type 1D isoform X4