Mak male germ cell-associated kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Makprovided by MGI
Official Full Name: male germ cell-associated kinaseprovided by MGI
Primary source: MGI:MGI:96913
See related: Ensembl:ENSMUSG00000021363 AllianceGenome:MGI:96913
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: A930010O05Rik
Summary: Predicted to enable protein serine/threonine kinase activity and transcription coactivator activity. Involved in photoreceptor cell maintenance. Acts upstream of or within negative regulation of non-motile cilium assembly. Located in axoneme; motile cilium; and photoreceptor cell cilium. Is expressed in several structures, including brain; nasal cavity epithelium; neural retina; respiratory system; and testis. Human ortholog(s) of this gene implicated in retinitis pigmentosa 62. Orthologous to human MAK (male germ cell associated kinase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 30.2) and lung adult (RPKM 1.2) See more
Orthologs: human all
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Genomic context

Location:: 13 A3.3; 13 20.25 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (41178483..41233182, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (41025007..41079706, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Results suggest that Mak is essential for the regulation of ciliary length and is required for the long-term survival of photoreceptors.
Title: Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival.
data show that function of MAK is not essential for spermatogenesis and male fertility.
Title: A testicular germ cell-associated serine-threonine kinase, MAK, is dispensable for sperm formation.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 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 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 transcription coactivator activity	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
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
acts_upstream_of_or_within negative regulation of non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in protein autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in protein autophosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info

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

General protein information

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Preferred Names: serine/threonine-protein kinase MAK

Names: protein kinase RCK

NP_001139274.1

EC 2.7.11.1

NP_001139275.1

EC 2.7.11.1

NP_032573.2

EC 2.7.11.1

XP_006516931.1

EC 2.7.11.1

XP_006516932.1

EC 2.7.11.1

XP_006516933.1

EC 2.7.11.1

XP_006516934.1

EC 2.7.11.1

XP_006516935.1

EC 2.7.11.1

XP_006516936.1

EC 2.7.11.1

XP_036013776.1

EC 2.7.11.1

XP_036013777.1

EC 2.7.11.1

XP_036013778.1

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.

mRNA and Protein(s)

NM_001145802.1 → NP_001139274.1 serine/threonine-protein kinase MAK isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate segment and uses a different splice site, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.

Source sequence(s)

AC133496, AK029894, AK044399

Consensus CDS

CCDS49244.1

UniProtKB/Swiss-Prot

Q04859

Related

ENSMUSP00000064750.7, ENSMUST00000070193.14

Conserved Domains (2) summary

PHA03247
Location:281 → 337

PHA03247; large tegument protein UL36; Provisional

cd07830
Location:4 → 253

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_001145803.1 → NP_001139275.1 serine/threonine-protein kinase MAK isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).

Source sequence(s)

AC133496, AK044399, BQ930470

Consensus CDS

CCDS49245.1

UniProtKB/Swiss-Prot

Q04859

Related

ENSMUSP00000129615.2, ENSMUST00000165087.8

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_008547.2 → NP_032573.2 serine/threonine-protein kinase MAK isoform 2

See identical proteins and their annotated locations for NP_032573.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks a segment in the 5' UTR and has multiple differences in the CDS, compared to variant 1. The resulting protein (isoform 2) is shorter and lacks internal sequence segments when it is compared to isoform 2.

Source sequence(s)

AC133496, AK044399, X66983

Consensus CDS

CCDS26471.1

UniProtKB/Swiss-Prot

E9Q4B2, E9QAU5, E9QKR3, Q04859, Q8CDL5

Related

ENSMUSP00000021792.5, ENSMUST00000021792.5

Conserved Domains (1) summary

cd07830
Location:4 → 284

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

41178483..41233182 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516873.3 → XP_006516936.1 serine/threonine-protein kinase MAK isoform X6

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_006516872.3 → XP_006516935.1 serine/threonine-protein kinase MAK isoform X5

UniProtKB/TrEMBL

A0A286YD80

Related

ENSMUSP00000153314.2, ENSMUST00000224740.2

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_006516871.3 → XP_006516934.1 serine/threonine-protein kinase MAK isoform X4

See identical proteins and their annotated locations for XP_006516934.1

UniProtKB/Swiss-Prot

E9Q4B2, E9QAU5, E9QKR3, Q04859, Q8CDL5

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_006516870.3 → XP_006516933.1 serine/threonine-protein kinase MAK isoform X3

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_006516868.3 → XP_006516931.1 serine/threonine-protein kinase MAK isoform X1

See identical proteins and their annotated locations for XP_006516931.1

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_036157885.1 → XP_036013778.1 serine/threonine-protein kinase MAK isoform X5

UniProtKB/TrEMBL

A0A286YD80

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_036157884.1 → XP_036013777.1 serine/threonine-protein kinase MAK isoform X4

UniProtKB/Swiss-Prot

E9Q4B2, E9QAU5, E9QKR3, Q04859, Q8CDL5

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_036157883.1 → XP_036013776.1 serine/threonine-protein kinase MAK isoform X2

Related

ENSMUSP00000152946.2, ENSMUST00000225084.2

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
XM_006516869.2 → XP_006516932.1 serine/threonine-protein kinase MAK isoform X1

See identical proteins and their annotated locations for XP_006516932.1

Conserved Domains (1) summary

cd07830
Location:4 → 284

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