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

Gene ID: 4117, updated on 8-Dec-2018

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
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

Genomic context

See MAK in Genome Data Viewer
Location:
6p24.2
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (10762723..10838954, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10762956..10838788, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 14C Neighboring gene RNA, 5S ribosomal pseudogene 203 Neighboring gene transmembrane protein 14B Neighboring gene glial cells missing transcription factor 2 Neighboring gene synaptonemal complex protein 2 like Neighboring gene uncharacterized LOC101928191

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
metal ion 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
protein autophosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
axoneme IEA
Inferred from Electronic Annotation
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
serine/threonine-protein kinase MAK
Names
male germ cell-associated kinase retinal-enriched isoform
serine/threonine protein kinase MAK
testicular secretory protein Li 28
NP_001229314.1
NP_001229886.1
NP_005897.1
XP_011512921.1
XP_011512922.1
XP_011512923.1
XP_011512924.1
XP_011512926.1
XP_016866352.1
XP_016866353.1
XP_016866354.1
XP_016866355.1
XP_024302211.1
XP_024302212.1

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

  1. NG_030040.1 RefSeqGene

    Range
    12679..80833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001229314.1

    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, AL024498, BM704130, BP246863
    Consensus CDS
    CCDS75398.1
    UniProtKB/Swiss-Prot
    P20794
    Related
    ENSP00000442221.2, ENST00000536370.5
    Conserved Domains (2) summary
    smart00220
    Location:4284
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  2. NM_001242957.2NP_001229886.1  serine/threonine-protein kinase MAK isoform 3

    See identical proteins and their annotated locations for NP_001229886.1

    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)
    AB593146, AF505623, BM978645, JN135248
    Consensus CDS
    CCDS75399.1
    UniProtKB/Swiss-Prot
    P20794
    UniProtKB/TrEMBL
    F8VBW7
    Conserved Domains (2) summary
    smart00220
    Location:4284
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  3. NM_005906.5NP_005897.1  serine/threonine-protein kinase MAK isoform 1

    See identical proteins and their annotated locations for NP_005897.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB593146, AL024498, BC033002, BM704130
    Consensus CDS
    CCDS4516.1
    UniProtKB/Swiss-Prot
    P20794
    UniProtKB/TrEMBL
    A0A140VK28
    Related
    ENSP00000313021.2, ENST00000313243.6
    Conserved Domains (2) summary
    smart00220
    Location:4284
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

RNA

  1. NR_134935.1 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, BP246863, DB082719
  2. NR_134936.1 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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    10762723..10838954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010865.1XP_016866354.1  serine/threonine-protein kinase MAK isoform X5

  2. XM_011514622.3XP_011512924.1  serine/threonine-protein kinase MAK isoform X4

    See identical proteins and their annotated locations for XP_011512924.1

    UniProtKB/Swiss-Prot
    P20794
    Conserved Domains (2) summary
    smart00220
    Location:4284
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  3. XM_017010864.2XP_016866353.1  serine/threonine-protein kinase MAK isoform X3

    UniProtKB/Swiss-Prot
    P20794
    UniProtKB/TrEMBL
    A0A140VK28
    Related
    ENSP00000476067.1, ENST00000474039.5
    Conserved Domains (2) summary
    smart00220
    Location:4284
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  4. XM_017010863.2XP_016866352.1  serine/threonine-protein kinase MAK isoform X1

    UniProtKB/Swiss-Prot
    P20794
    Related
    ENSP00000346484.3, ENST00000354489.6
    Conserved Domains (2) summary
    smart00220
    Location:4284
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  5. XM_011514619.2XP_011512921.1  serine/threonine-protein kinase MAK isoform X1

    See identical proteins and their annotated locations for XP_011512921.1

    UniProtKB/Swiss-Prot
    P20794
    Conserved Domains (2) summary
    smart00220
    Location:4284
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  6. XM_011514620.2XP_011512922.1  serine/threonine-protein kinase MAK isoform X1

    See identical proteins and their annotated locations for XP_011512922.1

    UniProtKB/Swiss-Prot
    P20794
    Conserved Domains (2) summary
    smart00220
    Location:4284
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  7. XM_011514621.2XP_011512923.1  serine/threonine-protein kinase MAK isoform X2

    Conserved Domains (2) summary
    smart00220
    Location:15265
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd07830
    Location:15265
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  8. XM_024446443.1XP_024302211.1  serine/threonine-protein kinase MAK isoform X6

    Conserved Domains (2) summary
    COG0515
    Location:30186
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:195
    PKc_like; Protein Kinases, catalytic domain
  9. XM_011514624.2XP_011512926.1  serine/threonine-protein kinase MAK isoform X9

    Conserved Domains (1) summary
    cl21453
    Location:124
    PKc_like; Protein Kinases, catalytic domain
  10. XM_024446444.1XP_024302212.1  serine/threonine-protein kinase MAK isoform X8

    Conserved Domains (1) summary
    cd07830
    Location:4284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
  11. XM_017010866.2XP_016866355.1  serine/threonine-protein kinase MAK isoform X7

    Related
    ENSP00000442250.1, ENST00000538030.2

RNA

  1. XR_926215.3 RNA Sequence

  2. XR_002956283.1 RNA Sequence

  3. XR_926220.3 RNA Sequence

  4. XR_001743419.2 RNA Sequence

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