MAK - male germ cell associated kinase Gene

Also Known as RP62

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4117

About MAK

Cytogenetic location: 6p24.2 Genomic coordinates (GRCh38): 6:10,762,723-10,838,539 (from NCBI)

This gene has 7 transcripts (splice variants), 233 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 3.9), lung (RPKM 0.4) and 3 other tissues.

Summary

The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. 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. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

MAK Products (4)

mRNA	Protein	Name
NM_001242385.2	NP_001229314.1	serine/threonine-protein kinase MAK isoform 2
NM_001242957.3	NP_001229886.1	serine/threonine-protein kinase MAK isoform 3
NM_001377262.1	NP_001364191.1	serine/threonine-protein kinase MAK isoform 4
NM_005906.6	NP_005897.1	serine/threonine-protein kinase MAK isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16951154	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	16951154	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein autophosphorylation	IMP IMP: Inferred from mutant phenotype	21986944	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	21986944	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	21986944	GOA
located in midbody	IDA IDA: Inferred from direct assay	21986944	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	21986944	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12084720	GOA
located in photoreceptor inner segment	IDA IDA: Inferred from direct assay	21825139	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAK Protein Structure

Pkinase

0
100
200
300
400
500
623 a.a.

Protein Preferred Names	Protein Names
serine/threonine-protein kinase MAK	serine/threonine protein kinase MAK

MAK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MAK	P20794	AR	Homo sapiens	P10275	Anti Bait CoIP	16951154
Intra	MAK	P20794	AR	Homo sapiens	P10275	IF	16951154
Intra	MAK	P20794	AR	Homo sapiens	P10275	Anti Tag CoIP	16951154
Intra	MAK	P20794	FZR1	Homo sapiens	Q9UM11	Protein Kinase Assay	21986944
Intra	MAK	P20794	FZR1	Homo sapiens	Q9UM11	Anti Tag CoIP	21986944
Intra	MAK	P20794	FZR1	Homo sapiens	Q9UM11	Anti Bait CoIP	21986944

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 62	RP62 Retinitis Pigmentosa, Type 62
Isolated Macular Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Endocrine-Cerebroosteodysplasia	Endocrine-Cerebro-Osteodysplasia Syndrome ECO Eco Syndrome
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Cornea Cancer	Malignant Neoplasm Of Cornea Neoplasm Of Cornea Corneal Tumor Malignant Corneal Tumor Malignant Tumor Of Cornea Primary Malignant Neoplasm Of Cornea
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Retinitis Pigmentosa 1	RP1 Retinitis Pigmentosa-1 Retinitis Pigmentosa, Type 1
Phimosis	Tight Foreskin Tight Frenulum Congenital Phimosis
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-103663	MAK683	Inhibitor	99.02%	Phase 2

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-130815A	MAK683-C2-acid hydrochloride	Inhibitor	99.60%	Unkown
HY-130815	MAK683-CH2CH2COOH	Inhibitor	/	Unkown
HY-103663A	MAK683 hydrochloride	Inhibitor	/	Unkown
HY-RS00631	ALPK3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07989	MAK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07990	MAK16 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17873	Mak Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24342	Mak Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P99425	Afelimomab		99.34%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MAK	VGNC	VGNC:68139
Macaca mulatta	MAK	VGNC	VGNC:74480
Bos taurus	MAK	VGNC	VGNC:31152
Mus musculus	MAK	MGD	MGI:96913
Canis familiaris	MAK	VGNC	VGNC:42931
Rattus norvegicus	MAK	RGD	RGD:3036
Others	MAK	NCBI