Details for: CKMT1B

Gene ID: 1159

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: CKMT1B

Ensembl ID: ENSG00000237289

Description: creatine kinase, mitochondrial 1B

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • intestine goblet cell CL0019031
    CSI 4.73
    rCSI 4.2%
    PRS 91.72
  • cerebellar granule cell CL0001031
    CSI 3.38
    rCSI 4.97%
    PRS 89.78
  • secretory cell CL0000151
    CSI 3.12
    rCSI 3.25%
    PRS 92.75
  • keratinocyte CL0000312
    CSI 2.79
    rCSI 2.33%
    PRS 93.35
  • duct epithelial cell CL0000068
    CSI 2.75
    rCSI 4.02%
    PRS 96.09
  • goblet cell CL0000160
    CSI 2.73
    rCSI 2.58%
    PRS 91.7
  • placental villous trophoblast CL2000060
    CSI 2.62
    rCSI 4.05%
    PRS 92.03
  • mucous neck cell CL0000651
    CSI 2.53
    rCSI 3.64%
    PRS 95.52
  • club cell CL0000158
    CSI 2.29
    rCSI 3.35%
    PRS 90.25
  • colon epithelial cell CL0011108
    CSI 2.25
    rCSI 2.35%
    PRS 91.77
  • transit amplifying cell of colon CL0009011
    CSI 2.08
    rCSI 2.44%
    PRS 93.64
  • colonocyte CL1000347
    CSI 2.05
    rCSI 2.94%
    PRS 92.02
  • inhibitory interneuron CL0000498
    CSI 2.03
    rCSI 4.69%
    PRS 86.66
  • enterocyte CL0000584
    CSI 1.78
    rCSI 2.87%
    PRS 90.99
  • type B pancreatic cell CL0000169
    CSI 1.6
    rCSI 3.55%
    PRS 93.5
  • foveolar cell of stomach CL0002179
    CSI 1.54
    rCSI 3.28%
    PRS 94.86
  • transit amplifying cell CL0009010
    CSI 1.49
    rCSI 2.28%
    PRS 95.93
  • retinal cone cell CL0000573
    CSI 1.44
    rCSI 2.31%
    PRS 87.28
  • glutamatergic neuron CL0000679
    CSI 1.2
    rCSI 2.46%
    PRS 83.9
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.16
    rCSI 3.8%
    PRS 84.28
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.16
    rCSI 2.81%
    PRS 81.76
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.11
    rCSI 4.01%
    PRS 82.05
  • retinal ganglion cell CL0000740
    CSI 1.09
    rCSI 2.42%
    PRS 85.44
  • colon goblet cell CL0009039
    CSI 1.09
    rCSI 2.58%
    PRS 94.6
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 0.81
    rCSI 4.75%
    PRS 84.21
  • direct pathway medium spiny neuron CL4023026
    CSI 0.47
    rCSI 11.18%
    PRS 81.7
  • paneth cell of colon CL0009009
    CSI 0.39
    rCSI 3.85%
    PRS 95.41

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [CKMT1B](/details-gene/1159) encodes the mitochondrial creatine kinase 1B, a key enzyme in cellular energy homeostasis. It is localized to the [mitochondrial inner membrane](/details-cell/GO0005743) where it catalyzes the reversible transfer of a phosphate group from ATP to creatine, generating phosphocreatine. This process provides a temporal and spatial energy buffer, crucial for tissues with high and fluctuating energy demands. The gene's expression profile reflects this function, with high significance observed in metabolically active cells, including various secretory and epithelial cells of the gastrointestinal tract, such as [intestine goblet cell](/details-cell/CL0019031)s, as well as specific neuronal populations like [cerebellar granule cell](/details-cell/CL0001031)s. Its clinical relevance is noted under OMIM entry [123290](https://omim.org/entry/123290). ## Cellular Roles and Expression Landscape The expression pattern of [CKMT1B](/details-gene/1159) highlights its role as a fundamental component of the energy metabolism machinery in specific, high-demand cell types. **Overall**, the gene shows the highest significance in cells involved in secretion and barrier functions, particularly within the gastrointestinal tract. This is evidenced by its top-ranking position in [intestine goblet cell](/details-cell/CL0019031) (CSI: 4.73), [secretory cell](/details-cell/CL0000151), [goblet cell](/details-cell/CL0000160), [mucous neck cell](/details-cell/CL0000651), [colon epithelial cell](/details-cell/CL0011108), [transit amplifying cell of colon](/details-cell/CL0009011), and [colonocyte](/details-cell/CL1000347). This suggests that the creatine kinase system is essential for powering processes like mucin production, ion transport, and epithelial turnover. Beyond the gut, [CKMT1B](/details-gene/1159) is also a significant marker in other demanding environments. Its high CSI in [cerebellar granule cell](/details-cell/CL0001031)s and [inhibitory interneuron](/details-cell/CL0000498)s points to a critical role in maintaining ATP levels for synaptic transmission and neuronal function. Furthermore, its prominence in [keratinocyte](/details-cell/CL0000312)s, [placental villous trophoblast](/details-cell/CL2000060)s, and [type B pancreatic cell](/details-cell/CL0000169)s is consistent with the high energetic costs of skin proliferation, placental transport, and insulin synthesis, respectively. ## Pathways and Molecular Function [CKMT1B](/details-gene/1159) is functionally annotated with creatine kinase activity ([GO:0004111](https://www.ebi.ac.uk/QuickGO/term/GO:0004111)) and ATP binding ([GO:0005524](https://www.ebi.ac.uk/QuickGO/term/GO:0005524)), which are the core molecular functions for its role in cellular energetics. Initial characterization of the gene and its cDNA confirmed its identity as a mitochondrial creatine kinase ([Link](https://pubmed.ncbi.nlm.nih.gov/2914937/)). The gene's product is a central player in the **Phosphocreatine biosynthetic process** ([GO:0046314](https://www.ebi.ac.uk/QuickGO/term/GO:0046314)), a critical metabolic pathway. According to Reactome, [CKMT1B](/details-gene/1159) is involved in **Creatine metabolism** ([R-HSA-71288](https://reactome.org/content/detail/R-HSA-71288)), which is part of the broader **Metabolism of amino acids and derivatives** ([R-HSA-71291](https://reactome.org/content/detail/R-HSA-71291)) superpathway. By linking mitochondrial ATP production to cytosolic ATP consumption, the CK/PCr system acts as a highly efficient energy shuttle, a function supported by its localization to the [mitochondrion](/details-cell/GO0005739). The crystal structure of the human protein provides a detailed view of its catalytic domains ([Link](https://doi.org/10.1002/(sici)1097-0134(20000515)39:3<216::aid-prot40>3.0.co;2-#)). ## Research Directions The specific expression profile of [CKMT1B](/details-gene/1159) in metabolically demanding tissues provides a basis for several testable hypotheses regarding its role in health and disease. **Proposed Hypotheses:** 1. Given its high significance in diverse epithelial cells of the digestive tract ([intestine goblet cell](/details-cell/CL0019031), [colonocyte](/details-cell/CL1000347)), metabolic insufficiency due to [CKMT1B](/details-gene/1159) dysregulation could compromise intestinal barrier integrity, potentially contributing to the pathogenesis of inflammatory bowel diseases or malabsorption syndromes. 2. The prominent expression of [CKMT1B](/details-gene/1159) in [cerebellar granule cell](/details-cell/CL0001031)s suggests that defects in this gene could lead to impaired neuronal energy buffering, resulting in cerebellar dysfunction and manifesting as ataxia or other motor coordination disorders. 3. In [type B pancreatic cell](/details-cell/CL0000169)s, [CKMT1B](/details-gene/1159) may play a crucial role in providing the rapid bursts of ATP required for glucose-stimulated insulin secretion. Reduced [CKMT1B](/details-gene/1159) activity could therefore represent a mechanism for beta-cell dysfunction in the development of type 2 diabetes. **Experimental Approach:** To test the hypothesis regarding its role in intestinal barrier function (Hypothesis 1), a compelling approach would be to utilize human intestinal organoids. CRISPR-Cas9-mediated knockout of [CKMT1B](/details-gene/1159) could be performed in these models. The functional consequences would be assessed by measuring cellular bioenergetics using metabolic flux analysis (e.g., Seahorse), evaluating barrier integrity via transepithelial electrical resistance (TEER) and FITC-dextran permeability assays, and quantifying the production of mucus and other key secretory products. Exposing these knockout organoids to inflammatory cytokines (e.g., TNF-alpha) would further reveal if [CKMT1B](/details-gene/1159) deficiency sensitizes the epithelium to stress. **Therapeutic Potential:** As a housekeeping enzyme vital for energy homeostasis in numerous tissues, [CKMT1B](/details-gene/1159) is unlikely to be a suitable target for systemic inhibition or activation due to the high risk of off-target effects. However, its expression level could serve as a valuable biomarker. For instance, altered [CKMT1B](/details-gene/1159) expression in biopsies could indicate metabolic stress in conditions like mitochondrial myopathies, neurodegenerative diseases, or certain cancers that exhibit metabolic reprogramming. Therefore, its primary clinical utility may lie in diagnostics and prognostics rather than as a direct therapeutic target.

Genular Protein ID: 399656352

Symbol: KCRU_HUMAN

Name: Creatine kinase U-type, mitochondrial

UniProtKB Accession Codes:

P12532 B4DIT8 B7ZA09 Q0VAM3 Q32NF6 Q53FC4

Database IDs:

AGR 2 AlphaFoldDB 1 Antibodypedia 2 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 2 BioGRID-ORCS 2 BioMuta 1 CCDS 2 CDD 1 CTD 2 ChEBI 11 ChiTaRS 2 DMDM 1 DNASU 1 DisGeNET 2 DrugBank 4 EC 2 EMBL 11 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 5 Gene3D 2 GeneCards 2 GeneTree 1 GeneWiki 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 2 InParanoid 1 IntAct 1 InterPro 6 KEGG 2 MANE-Select 2 MIM 2 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 11 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 2 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2914937

Title: Isolation and characterization of the gene and cDNA encoding human mitochondrial creatine kinase.

PubMed ID: 2914937

DOI: 10.1016/s0021-9258(19)81696-4

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 10737943

Title: Crystal structure of human ubiquitous mitochondrial creatine kinase.

PubMed ID: 10737943

DOI: 10.1002/(sici)1097-0134(20000515)39:3&lt;216::aid-prot40&gt;3.0.co;2-#

Sequence Information:

  • Length: 417
  • Mass: 47037
  • Checksum: 274DAC2E9A8AD882
  • Sequence:
    • MAGPFSRLLS ARPGLRLLAL AGAGSLAAGF LLRPEPVRAA SERRRLYPPS AEYPDLRKHN 
NCMASHLTPA VYARLCDKTT PTGWTLDQCI QTGVDNPGHP FIKTVGMVAG DEETYEVFAD 
LFDPVIQERH NGYDPRTMKH TTDLDASKIR SGYFDERYVL SSRVRTGRSI RGLSLPPACT 
RAERREVERV VVDALSGLKG DLAGRYYRLS EMTEAEQQQL IDDHFLFDKP VSPLLTAAGM 
ARDWPDARGI WHNNEKSFLI WVNEEDHTRV ISMEKGGNMK RVFERFCRGL KEVERLIQER 
GWEFMWNERL GYILTCPSNL GTGLRAGVHI KLPLLSKDSR FPKILENLRL QKRGTGGVDT 
AATGGVFDIS NLDRLGKSEV ELVQLVIDGV NYLIDCERRL ERGQDIRIPT PVIHTKH