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

Summary

Official Symbol: MAKprovided by HGNC
Official Full Name: male germ cell associated kinaseprovided by HGNC
Primary source: HGNC:HGNC:6816
See related: Ensembl:ENSG00000111837 MIM:154235; AllianceGenome:HGNC:6816
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
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]
Expression: Biased expression in testis (RPKM 3.9), lung (RPKM 0.4) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p24.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (10762723..10838539, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (10630425..10706179, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (10762956..10838772, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The clinical data show that in general, patients with biallelic MAK mutations had a later age of onset and a milder retinal phenotype compared with patients with biallelic DHDDS mutations.
Title: Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
The natural history of this individual's retinitis pigmentosa (RP) is consistent with previously described MAK mutations, being significantly milder than that associated with other photoreceptor ciliopathies. We suggest inclusion of MAK as part of wider genetic testing in all individuals presenting with RP.
Title: Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.
We report the first case of leaking intraretinal cystoid spaces due to mutation in MAK. Mak regulates microtubule stability via phosphorylating RP1. Abnormal Mak may impact retinal photoreceptor ciliary length and subcompartmentalization.
Title: Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.
One patient was homozygous for the insertion, one compound heterozygous with a missense change on the other allele (c. 46G>A; p.Gly16Arg), and three were heterozygous carriers.
Title: Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.
We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry
Title: Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
Nonsense and missense mutations in MAK give rise to a non-syndromic recessive RP phenotype without apparent extra-ocular features.
Title: Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
the expressions of ICK/MAK/MOK proteins in the intestinal tract can be differentially and dynamically regulated, implicating a significant functional diversity within this group of protein kinases.
Title: Distinct expression patterns of ICK/MAK/MOK protein kinases in the intestine implicate functional diversity.
In glioblastoma cells with deregulated high levels of CCRK, its depletion restores cilia through ICK and an ICK-related kinase MAK, thereby inhibiting glioblastoma cell proliferation.
Title: CCRK depletion inhibits glioblastoma cell proliferation in a cilium-dependent manner.
these data implicate MAK in both adrogen receptor activation and chromosomal instability, acting in both early and late prostate cancer development.
Title: Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/CCDH1.
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.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 62 MedGen: C3280042 OMIM: 614181 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G65611 (e-PCR)
- UniSTS:225547

D11S2560 (e-PCR)
- UniSTS:37928

RH91826 (e-PCR)
- UniSTS:91452

G42180 (e-PCR)
- UniSTS:105098

RH94354 (e-PCR)
- UniSTS:86987

RH98702 (e-PCR)
- UniSTS:83672

RH16150 (e-PCR)
- UniSTS:53742

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intraciliary transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in protein autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in axoneme	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in mitotic spindle	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: serine/threonine-protein kinase MAK

Names: serine/threonine protein kinase MAK; testicular secretory protein Li 28

NP_001229314.1

EC 2.7.11.1

NP_001229886.1

EC 2.7.11.1

NP_001364191.1

EC 2.7.11.1

NP_005897.1

EC 2.7.11.1

XP_011512921.1

EC 2.7.11.1

XP_011512922.1

EC 2.7.11.1

XP_011512924.1

EC 2.7.11.1

XP_011512926.1

EC 2.7.11.1

XP_047274730.1

EC 2.7.11.1

XP_054211408.1

EC 2.7.11.1

XP_054211409.1

EC 2.7.11.1

XP_054211410.1

EC 2.7.11.1

XP_054211411.1

EC 2.7.11.1

XP_054211412.1

EC 2.7.11.1

XP_054211413.1

EC 2.7.11.1

XP_054211414.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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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

5017..80833

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents a longer 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AB593146, BM704130, BP246863

Consensus CDS

CCDS75398.1

UniProtKB/Swiss-Prot

P20794

Related

ENSP00000442221.2, ENST00000536370.6

Conserved Domains (2) summary

smart00220
Location:4 → 284

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_001242957.3 → NP_001229886.1 serine/threonine-protein kinase MAK isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate in-frame exon compared to variant 1. The encoded isoform (3) is longer than isoform 1.

Source sequence(s)

AL024498

Consensus CDS

CCDS75399.1

UniProtKB/Swiss-Prot

P20794

UniProtKB/TrEMBL

F8VBW7

Related

ENSP00000346484.3, ENST00000354489.7

Conserved Domains (2) summary

smart00220
Location:4 → 284

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_001377262.1 → NP_001364191.1 serine/threonine-protein kinase MAK isoform 4

Status: REVIEWED

Source sequence(s)

AL024498

Consensus CDS

CCDS93855.1

UniProtKB/TrEMBL

A0A6Q8PG01

Related

ENSP00000502045.1, ENST00000676116.1

Conserved Domains (1) summary

cd07830
Location:1 → 250

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_005906.6 → NP_005897.1 serine/threonine-protein kinase MAK isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AL024498

Consensus CDS

CCDS4516.1

UniProtKB/Swiss-Prot

F1T0K6, G1FL29, P20794, Q547D0, Q9NUH7

UniProtKB/TrEMBL

A0A140VK28

Related

ENSP00000476067.1, ENST00000474039.5

Conserved Domains (2) summary

smart00220
Location:4 → 284

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd07830
Location:4 → 284

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

RNA

NR_134935.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an additional exon at the 5' end and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB593146, AL024498, BC039825, BM704130, DB082719
NR_134936.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an additional exon at the 5' end and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB593146, AK314408, AL024498, BM704130

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

10762723..10838539 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514622.4 → XP_011512924.1 serine/threonine-protein kinase MAK isoform X2

UniProtKB/Swiss-Prot

P20794

Conserved Domains (2) summary

smart00220
Location:4 → 284

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_011514619.3 → XP_011512921.1 serine/threonine-protein kinase MAK isoform X1

UniProtKB/Swiss-Prot

P20794

Conserved Domains (2) summary

smart00220
Location:4 → 284

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_011514620.3 → XP_011512922.1 serine/threonine-protein kinase MAK isoform X1

UniProtKB/Swiss-Prot

P20794

Conserved Domains (2) summary

smart00220
Location:4 → 284

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_011514624.3 → XP_011512926.1 serine/threonine-protein kinase MAK isoform X4

Conserved Domains (1) summary

cl21453
Location:1 → 24

PKc_like; Protein Kinases, catalytic domain
XM_047418774.1 → XP_047274730.1 serine/threonine-protein kinase MAK isoform X3

UniProtKB/TrEMBL

A0A6Q8PH30

Related

ENSP00000502542.1, ENST00000675026.1

RNA

XR_926215.4 RNA Sequence
XR_926220.4 RNA Sequence
XR_001743419.3 RNA Sequence
XR_007059266.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

10630425..10706179 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355435.1 → XP_054211410.1 serine/threonine-protein kinase MAK isoform X2
XM_054355433.1 → XP_054211408.1 serine/threonine-protein kinase MAK isoform X1
XM_054355434.1 → XP_054211409.1 serine/threonine-protein kinase MAK isoform X1
XM_054355437.1 → XP_054211412.1 serine/threonine-protein kinase MAK isoform X5
XM_054355439.1 → XP_054211414.1 serine/threonine-protein kinase MAK isoform X4
XM_054355436.1 → XP_054211411.1 serine/threonine-protein kinase MAK isoform X3

UniProtKB/TrEMBL

A0A6Q8PH30
XM_054355438.1 → XP_054211413.1 serine/threonine-protein kinase MAK isoform X6

UniProtKB/TrEMBL

Q8IXN4