InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MAK

Summary

InnateDB Protein

IDBP-61294.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MAK

Protein Name

male germ cell-associated kinase

Synonyms

dJ417M14.2; RP62;

Species

Homo sapiens

Ensembl Protein

ENSP00000346484

InnateDB Gene

IDBG-61290 (MAK)

Protein Structure

UniProt Annotation

Function

Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells. {ECO:0000250, ECO:0000269PubMed:12084720, ECO:0000269PubMed:16951154, ECO:0000269PubMed:21986944}.

Subcellular Localization

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Midbody. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Photoreceptor inner segment. Note=Localized in both the connecting cilia and the outer segment axonemes (By similarity). Localized uniformly in nuclei during interphase, to the mitotic spindle and centrosomes during metaphase and anaphase, and also to midbody at anaphase until telophase. {ECO:0000250}.

Disease Associations

Retinitis pigmentosa 62 (RP62) [MIM:614181]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:21825139, ECO:0000269PubMed:21835304}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in prostate cancer cell lines at generally higher levels than in normal prostate epithelial cell lines. Isoform 1 is expressed in kidney, testis, lung, trachea, and retina. Isoform 2 is retina-specific where it is expressed in rod and cone photoreceptors. {ECO:0000269PubMed:12084720, ECO:0000269PubMed:21825139}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003713	transcription coactivator activity
GO:0004672	protein kinase activity
GO:0004693	cyclin-dependent protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006468	protein phosphorylation
GO:0007275	multicellular organismal development
GO:0007283	spermatogenesis
GO:0030154	cell differentiation
GO:0045494	photoreceptor cell maintenance
GO:0046777	protein autophosphorylation
GO:0051726	regulation of cell cycle

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0001917	photoreceptor inner segment
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0030496	midbody
GO:0072686	mitotic spindle

Protein Structure and Domains

PDB ID

InterPro

IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain

PFAM

PF00069
PF07714

PRINTS

PR00109

PIRSF

SMART

SM00220
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt