MAK (gene)

Protein-coding gene in the species Homo sapiens

MAK

Identifiers
Aliases| MAK, RP62, dJ417M14.2, male germ cell associated kinase
External IDs| OMIM: 154235; MGI: 96913; HomoloGene: 31344; GeneCards: MAK; OMA:MAK - orthologs
| Gene location (Human)

Chr.| Chromosome 6 (human)[1]

Band| 6p24.2| Start| 10,762,723 bp[1]
End| 10,838,553 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 13 (mouse)[2]

Band| 13 A3.3|13 20.25 cM| Start| 41,178,484 bp[2]
End| 41,233,182 bp[2]
| RNA expression pattern

Bgee| | Human| Mouse (ortholog)

|

| Top expressed in

* sperm

* Epithelium of choroid plexus

* bronchial epithelial cell

* right uterine tube

* testicle

* epithelium of nasopharynx

* blood

* mucosa of paranasal sinus

* left testis

* right testis

| Top expressed in

* neural layer of retina

* spermatid

* seminiferous tubule

* spermatocyte

* epithelium of lens

* retinal pigment epithelium

* outer nuclear layer

* Epithelium of choroid plexus

* right lung lobe

* respiratory epithelium

More reference expression data
BioGPS| |

More reference expression data
| Gene ontology

Molecular function|

* transferase activity
* protein kinase activity
* nucleotide binding
* transcription coactivator activity
* kinase activity
* protein binding
* ATP binding
* metal ion binding
* protein serine/threonine kinase activity

Cellular component|

* centrosome
* cell projection
* photoreceptor inner segment
* spindle
* photoreceptor outer segment
* microtubule organizing center
* midbody
* mitotic spindle
* cytoskeleton
* nucleus
* cytoplasm
* cilium
* axoneme
* motile cilium
* photoreceptor connecting cilium
* ciliary tip

Biological process|

* cell differentiation
* regulation of transcription, DNA-templated
* phosphorylation
* transcription, DNA-templated
* multicellular organism development
* protein phosphorylation
* spermatogenesis
* protein autophosphorylation
* regulation of gene expression
* intracellular signal transduction
* intraciliary transport
* cilium assembly
* photoreceptor cell maintenance
* negative regulation of non-motile cilium assembly
* positive regulation of nucleic acid-templated transcription

Sources:Amigo / QuickGO
| Orthologs

Species| Human| Mouse
Entrez| |

4117

17152

Ensembl| |

ENSG00000111837

ENSMUSG00000021363

UniProt| |

P20794

Q04859

RefSeq (mRNA)| |

NM_001242385
NM_001242957
NM_005906
NM_001377262

NM_001145802
NM_001145803
NM_008547

RefSeq (protein)| |

NP_001229314
NP_001229886
NP_005897
NP_001364191

NP_001139274
NP_001139275
NP_032573

Location (UCSC)| Chr 6: 10.76 – 10.84 Mb| Chr 13: 41.18 – 41.23 Mb
PubMed search| [3]| [4]
Wikidata
| View/Edit Human| View/Edit Mouse

|

Serine/threonine-protein kinase MAK is an enzyme that in humans is encoded by the MAK gene.[5][6]

The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. It is expressed almost exclusively in the testis, primarily in germ cells. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. There is, however, a study of the mouse homolog that has identified high levels of expression in developing sensory epithelia so its function may be more generalized.[6]

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111837 - Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021363 - Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Ma AH, Xia L, Desai SJ, Boucher DL, Guan Y, Shih HM, Shi XB, deVere White RW, Chen HW, Tepper CG, Kung HJ (Sep 2006). "Male germ cell-associated kinase, a male-specific kinase regulated by androgen, is a coactivator of androgen receptor in prostate cancer cells". Cancer Res. 66 (17): 8439–47. doi:10.1158/0008-5472.CAN-06-1636. PMID 16951154.
6. ^ a b "Entrez Gene: MAK male germ cell-associated kinase".

## Further reading

[edit]

* Koji T, Jinno A, Matsushime H, et al. (1993). "In situ localization of male germ cell-associated kinase (mak) mRNA in adult mouse testis: specific expression in germ cells at stages around meiotic cell division". Cell Biochem. Funct. 10 (4): 273–9. doi:10.1002/cbf.290100411. PMID 1473268. S2CID 5717763.
* Matsushime H, Jinno A, Takagi N, Shibuya M (1990). "A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis". Mol. Cell. Biol. 10 (5): 2261–8. doi:10.1128/MCB.10.5.2261. PMC 360573. PMID 2183027.
* Taketo M, Jinno A, Yamaguchi S, et al. (1994). "Mouse Mak gene for male germ cell-associated kinase maps to chromosome 13". Genomics. 19 (2): 397–8. doi:10.1006/geno.1994.1082. PMID 8188277.
* Jinno A, Tanaka K, Matsushime H, et al. (1993). "Testis-specific mak protein kinase is expressed specifically in the meiotic phase in spermatogenesis and is associated with a 210-kilodalton cellular phosphoprotein". Mol. Cell. Biol. 13 (7): 4146–56. doi:10.1128/MCB.13.7.4146. PMC 359964. PMID 8321219.
* Bladt F, Birchmeier C (1993). "Characterization and expression analysis of the murine rck gene: a protein kinase with a potential function in sensory cells". Differentiation. 53 (2): 115–22. doi:10.1111/j.1432-0436.1993.tb00651.x. PMID 8359591.
* Xia L, Robinson D, Ma AH, et al. (2002). "Identification of human male germ cell-associated kinase, a kinase transcriptionally activated by androgen in prostate cancer cells". J. Biol. Chem. 277 (38): 35422–33. doi:10.1074/jbc.M203940200. PMID 12084720.
* Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
* Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
* Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
* Fu Z, Larson KA, Chitta RK, et al. (2007). "Identification of Yin-Yang Regulators and a Phosphorylation Consensus for Male Germ Cell-Associated Kinase (MAK)-Related Kinase". Mol. Cell. Biol. 26 (22): 8639–54. doi:10.1128/MCB.00816-06. PMC 1636783. PMID 16954377.

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