MAK male germ cell-associated kinase [Homo sapiens] - Gene

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Summary

Official Symbol: MAKprovided by HGNC
Official Full Name: male germ cell-associated kinaseprovided by HGNC
Primary source: HGNC:6816
Locus tag: RP3-417M14.2
See related: Ensembl:ENSG00000111837; HPRD:01101; MIM:154235; Vega:OTTHUMG00000014247
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RP62; dJ417M14.2
Summary: 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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

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Genomic context

Location :: 6p24

Sequence :: Chromosome: 6; NC_000006.11 (10762956..10838788, complement)

See MAK in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The patterns of disease expression in the MAK form of arRP showed some resemblance to patterns described in autosomal dominant RP, especially the form caused by RP1 mutations.
Title: Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.
Exome sequencing to identify a homozygous Alu insertion in exon 9 of male germ cell-associated kinase (MAK) as the cause of disease in an isolated individual with retinitis pigmentosa.
Title: Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.
Exome sequencing combined with this approach identified a homozygous nonsense mutation in male germ cell-associated kinase (MAK) in the single affected member of a consanguineous Turkish family with retinitis pigmentosa.
Title: Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
MAK plays a general role in androgen receptor(AR) function in prostate cancer cells and is likely to be a general coactivator of AR in prostate tissues.
Title: Male germ cell-associated kinase, a male-specific kinase regulated by androgen, is a coactivator of androgen receptor in prostate cancer cells.
identification and transcriptional activation by androgen in prostate cancer cells
Title: Identification of human male germ cell-associated kinase, a kinase transcriptionally activated by androgen in prostate cancer cells.
MRK phosphorylates Scythe at T1080 in vitro as determined by site-directed mutagenesis and mass spectrometry, supporting the consensus and suggesting Scythe as a physiological substrate for MRK.
Title: Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
ATP binding	NAS Non-traceable Author Statement more info
cyclin-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase activity	NAS Non-traceable Author Statement more info	PubMed
protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
transferase activity, transferring phosphorus-containing groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell differentiation	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
photoreceptor cell maintenance	ISS Inferred from Sequence or Structural Similarity more info
protein autophosphorylation	IMP Inferred from Mutant Phenotype more info
protein phosphorylation	IDA Inferred from Direct Assay more info
protein phosphorylation	NAS Non-traceable Author Statement more info
spermatogenesis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
centrosome	IDA Inferred from Direct Assay more info
cilium	IEA Inferred from Electronic Annotation more info
midbody	IDA Inferred from Direct Assay more info
mitotic spindle	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
photoreceptor inner segment	IDA Inferred from Direct Assay more info
photoreceptor outer segment	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: serine/threonine-protein kinase MAK

Names: serine/threonine-protein kinase MAK; serine/threonine protein kinase MAK; male germ cell-associated kinase retinal-enriched isoform

NP_001229314.1

EC 2.7.11.22

NP_005897.1

EC 2.7.11.22

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030040.1 RefSeqGene

Range

5001..80833

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242385.1 → NP_001229314.1 serine/threonine-protein kinase MAK isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks two alternate in-frame exons compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 3.

Source sequence(s)

AB593146, AL024498, BM704130, BP246863

UniProtKB/Swiss-Prot

P20794

Conserved Domains (2) summary

cd07830
Location:4 – 284
Blast Score: 1527

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

smart00220
Location:4 – 284
Blast Score: 765

S_TKc; Serine/Threonine protein kinases, catalytic domain
NM_001242957.1 → NP_001229886.1 serine/threonine-protein kinase MAK isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3). This isoform has been reported to be retinal-specific.

Source sequence(s)

AB593146, AF505623, BM978645, BP246863, DB082719, JN135248

UniProtKB/TrEMBL

F8VBW7

UniProtKB/Swiss-Prot

P20794

Conserved Domains (2) summary

cd07830
Location:4 – 284
Blast Score: 1530

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

smart00220
Location:4 – 284
Blast Score: 767

S_TKc; Serine/Threonine protein kinases, catalytic domain
NM_005906.4 → NP_005897.1 serine/threonine-protein kinase MAK isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.

Source sequence(s)

AB593146, AL024498, BC033002, BM704130, BP246863

Consensus CDS

CCDS4516.1

UniProtKB/Swiss-Prot

P20794

Related

ENSP00000346484, ENST00000354489

Conserved Domains (2) summary

cd07830
Location:4 – 284
Blast Score: 1531

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

smart00220
Location:4 – 284
Blast Score: 768

S_TKc; Serine/Threonine protein kinases, catalytic domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

10762956..10838788, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

10638967..10714575, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL024498.13	CAB75823.1
genomic	CH471087.1	EAW55282.1
		EAW55283.1
		EAW55284.1
		EAW55285.1
genomic	M35863.1	AAA36195.1
mRNA	AB593146.1	BAJ84080.1
mRNA	AF505623.1	AAN16405.1
mRNA	AK097831.1	BAG53538.1
mRNA	AK310329.1	None
mRNA	AK314408.1	None
mRNA	BC033002.1	None
mRNA	BC039825.1	AAH39825.1
mRNA	BM704130.1	None
mRNA	BM978645.1	None
mRNA	BP246863.1	None
mRNA	DB082719.1	None
mRNA	JN135248.1	AEJ36294.1
mRNA	JN226411.1	AEL29206.1