CARKD
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| Carbohydrate kinase | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| File:Carbohydrate kinase 1KYH.png Crystallographic structure of a putative Bacillus subtilis carbohydrate kinase (rainbow colored, N-terminus = blue, C-terminus = red).[1] | |||||||||||
| Identifiers | |||||||||||
| Symbol | Carb_kinase | ||||||||||
| Pfam | PF01256 | ||||||||||
| Pfam clan | CL0118 | ||||||||||
| InterPro | IPR000631 | ||||||||||
| PROSITE | PDOC00806 | ||||||||||
| SCOP2 | 1kyh / SCOPe / SUPFAM | ||||||||||
| |||||||||||
Carbohydrate kinase domain containing protein (abbreviated as CARKD), encoded by CARKD gene, is a human protein of unknown function. The CARKD gene encodes proteins with a predicted mitochondrial propeptide (mCARKD), a signal peptide (spCARKD) or neither of them (cCARKD). Confocal microscopy analysis of transfected CHO (Chinese-hamster ovary) cells indicated that cCARKD remains in the cytosol, whereas mCARKD and spCARKD are targeted to the mitochondria and the endoplasmic reticulum respectively.[2] The protein is conserved throughout many species, and has predicted orthologs through eukaryotes, bacteria, and archea.
Structure
[edit | edit source]Gene
[edit | edit source]Human CARKD gene has 10 exons and resides on Chromosome 13 at q34. The following genes are near CARKD on the chromosome:[3]
- COL4A2: A2 Subunit of type IV collagen
- RAB20: Potential regulator of Connexin 43 trafficking.
- CARS2: Mitochondrial Cystienyl-tRNA Synthetase 2
- ING1: Tumor-Suppressor Protein
Protein
[edit | edit source]This protein is part of the phosphomethylpyrimidine kinase: ribokinase / pfkB superfamily. This family is characterized by the presence of a domain shared by the family.[4] CARKD contains a carbohydrate kinase domain (Pfam PF01256).[4] This family is related to Pfam PF02210 and Pfam PF00294 implying that it also is a carbohydrate kinase.
Predicted properties
[edit | edit source]The following properties of CARKD were predicted using bioinformatic analysis:
- Molecular Weight: 41.4 KDal[5]
- Isoelectric point: 9.377[6]
- CARKD orthologs have highly variable isoelectric points.[6]
- Post-translational modification: Three post-translational modifications are predicted:
- Modified Phosphotyrosine Residue[7]
- Two N-Linked Glycosylation Sites[7]
- A Signal Peptide and signal peptide cleavage site was predicted.[8]
Function
[edit | edit source]Tissue distribution
[edit | edit source]CARKD appears to be ubiquitously expressed at high levels. Expression data in the human protein, and the mouse ortholog, indicate its expression in almost all tissues.[9][10] One peculiar expression pattern of CARKD is its differential expression through the development of oligodendrocytes. Its expression is lower in oligodendrocyte progenitor cells than in mature oligodendrocytes.[11]
Binding partners
[edit | edit source]The human protein apolipoprotein A-1 binding precursor (APOA1BP) was predicted to be a binding partner for CARKD.[12] This prediction is based on co-occurrence across genomes and co-expression. In addition to these data, the orthologs of CARKD in E. coli contain a domain similar to APOA1BP. This indicates that the two proteins are likely to have originated from a common evolutionary ancestor and, according to Rosetta stone analysis theory,[13] are likely interaction partners even in species such as humans where the two proteins are not produced as a single polypeptide.
Clinical significance
[edit | edit source]Based on allele-specific expression of CARKD, CARKD may play a role in acute lymphoblastic leukemia.[14] In addition, microarray data indicates that CARKD is up-regulated in Glioblastoma multiforme tumors.[15]
Mutations of the NAXD gene cause the rare disease early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-2 (PEBEL2).
References
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External links
[edit | edit source]- Human CARKD genome location and CARKD gene details page in the UCSC Genome Browser.