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

Gene ID: 17152, updated on 8-Feb-2024

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
Enables protein kinase activity. Acts upstream of or within negative regulation of non-motile cilium assembly and photoreceptor cell maintenance. Located in several cellular components, including axoneme; ciliary tip; 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, Apr 2022]
Expression
Biased expression in testis adult (RPKM 30.2) and lung adult (RPKM 1.2) See more
Orthologs
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Genomic context

See Mak in Genome Data Viewer
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_000079.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A730081D07 gene Neighboring gene STARR-positive B cell enhancer ABC_E11542 Neighboring gene PAK1 interacting protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E9874 Neighboring gene transmembrane protein 14C Neighboring gene glial cells missing homolog 2 Neighboring gene synaptonemal complex protein 2-like Neighboring gene STARR-seq mESC enhancer starr_34300

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables transcription coactivator activity ISO
Inferred from Sequence Orthology
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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 phosphorylation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within photoreceptor cell maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein autophosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cilium IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in midbody ISO
Inferred from Sequence Orthology
more info
 
located_in mitotic spindle ISO
Inferred from Sequence Orthology
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 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 outer segment IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
serine/threonine-protein kinase MAK
Names
protein kinase RCK
NP_001139274.1
NP_001139275.1
NP_032573.2
XP_006516931.1
XP_006516932.1
XP_006516933.1
XP_006516934.1
XP_006516935.1
XP_006516936.1
XP_036013776.1
XP_036013777.1
XP_036013778.1

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)

  1. NM_001145802.1NP_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:281337
    PHA03247; large tegument protein UL36; Provisional
    cd07830
    Location:4253
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  2. NM_001145803.1NP_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:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  3. NM_008547.2NP_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:4284
    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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    41178483..41233182 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  2. XM_006516872.3XP_006516935.1  serine/threonine-protein kinase MAK isoform X5

    UniProtKB/TrEMBL
    A0A286YD80
    Related
    ENSMUSP00000153314.2, ENSMUST00000224740.2
    Conserved Domains (1) summary
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  3. XM_006516871.3XP_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:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  4. XM_006516870.3XP_006516933.1  serine/threonine-protein kinase MAK isoform X3

    Conserved Domains (1) summary
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  5. XM_006516868.3XP_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:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  6. XM_036157885.1XP_036013778.1  serine/threonine-protein kinase MAK isoform X5

    UniProtKB/TrEMBL
    A0A286YD80
    Conserved Domains (1) summary
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  7. XM_036157884.1XP_036013777.1  serine/threonine-protein kinase MAK isoform X4

    UniProtKB/Swiss-Prot
    E9Q4B2, E9QAU5, E9QKR3, Q04859, Q8CDL5
    Conserved Domains (1) summary
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  8. XM_036157883.1XP_036013776.1  serine/threonine-protein kinase MAK isoform X2

    Related
    ENSMUSP00000152946.2, ENSMUST00000225084.2
    Conserved Domains (1) summary
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  9. XM_006516869.2XP_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:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases