Seroatlas · Human Serome Atlas

MAK

Serine/threonine-protein kinase MAK

Also known as: dJ417M14.2, MAK_HUMAN, RP62

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P20794
Gene
MAK
Ensembl
ENSG00000111837
Chromosome
6
Canonical length
623 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli,Plasma membrane,Basal body,Cytosol,Connecting piece,Principal piece,End piece

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

623 residues, UniProt reviewed canonical sequence.

>P20794|MAK
     1  MNRYTTMRQL GDGTYGSVLM GKSNESGELV AIKRMKRKFY SWDECMNLRE VKSLKKLNHA
    61  NVIKLKEVIR ENDHLYFIFE YMKENLYQLM KDRNKLFPES VIRNIMYQIL QGLAFIHKHG
   121  FFHRDMKPEN LLCMGPELVK IADFGLAREL RSQPPYTDYV STRWYRAPEV LLRSSVYSSP
   181  IDVWAVGSIM AELYMLRPLF PGTSEVDEIF KICQVLGTPK KSDWPEGYQL ASSMNFRFPQ
   241  CVPINLKTLI PNASNEAIQL MTEMLNWDPK KRPTASQALK HPYFQVGQVL GPSSNHLESK
   301  QSLNKQLQPL ESKPSLVEVE PKPLPDIIDQ VVGQPQPKTS QQPLQPIQPP QNLSVQQPPK
   361  QQSQEKPPQT LFPSIVKNMP TKPNGTLSHK SGRRRWGQTI FKSGDSWEEL EDYDFGASHS
   421  KKPSMGVFKE KRKKDSPFRL PEPVPSGSNH STGENKSLPA VTSLKSDSEL STAPTSKQYY
   481  LKQSRYLPGV NPKKVSLIAS GKEINPHTWS NQLFPKSLGP VGAELAFKRS NAGNLGSYAT
   541  YNQSGYIPSF LKKEVQSAGQ RIHLAPLNAT ASEYTWNTKT GRGQFSGRTY NPTAKNLNIV
   601  NRAQPIPSVH GRTDWVAKYG GHR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.48
Highest tissue expression
110 nTPM

Expression across tissuesHPA

Tissue

  • retina: 110 nTPM
  • choroid plexus: 6.7 nTPM
  • fallopian tube: 5 nTPM
  • parathyroid gland: 4.4 nTPM
  • testis: 3.6 nTPM
  • lung: 0.7 nTPM

Single-cell type

  • rod photoreceptor cells: 1,372 nCPM
  • cone photoreceptor cells: 1,004 nCPM
  • epicardial cells: 484 nCPM
  • neutrophils: 258 nCPM
  • cardiomyocytes: 218 nCPM
  • endometrial ciliated cells: 213 nCPM

Immune cell

  • neutrophil: 6.3 nTPM
  • non-classical monocyte: 0.6 nTPM
  • classical monocyte: 0.5 nTPM
  • naive CD8 T-cell: 0.5 nTPM
  • basophil: 0.4 nTPM
  • naive B-cell: 0.4 nTPM

Brain region

  • choroid plexus: 15 nTPM
  • cerebellum: 6.2 nTPM
  • midbrain: 5.2 nTPM
  • medulla oblongata: 4.6 nTPM
  • cerebral cortex: 4 nTPM
  • spinal cord: 3.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAK.

Disease | AllUniProt

Conditions MAK is implicated in, by any mechanism.

Disease | GeneticClinVar

95 pathogenic / likely-pathogenic of 656 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.21
gnomAD pLI
0
gnomAD missense Z
0.4
DepMap mean gene effect
0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MAK in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MAK as an antibody target. Whether an autoantibody or antibody against MAK could matter depends on whether native MAK is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MAK is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MAK as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MAK. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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