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Protein

Serine/threonine-protein kinase MAK

Gene

MAK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells.By similarity3 Publications

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.2 Publications

Cofactori

Mg2+2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei33ATPPROSITE-ProRule annotation1
Active sitei125Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi10 – 18ATPPROSITE-ProRule annotation9

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW
  • protein kinase activity Source: UniProtKB
  • protein serine/threonine kinase activity Source: GO_Central
  • transcription coactivator activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Kinase, Serine/threonine-protein kinase, Transferase
Biological processDifferentiation, Spermatogenesis, Transcription, Transcription regulation
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.11.22 2681
SignaLinkiP20794

Names & Taxonomyi

Protein namesi
Recommended name:
Serine/threonine-protein kinase MAK (EC:2.7.11.12 Publications)
Alternative name(s):
Male germ cell-associated kinase
Gene namesi
Name:MAK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000111837.11
HGNCiHGNC:6816 MAK
MIMi154235 gene
neXtProtiNX_P20794

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 62 (RP62)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:614181
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06698813G → S in RP62; results in a complete loss of kinase activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906647EnsemblClinVar.1
Natural variantiVAR_06698927G → R in RP62. 1 PublicationCorresponds to variant dbSNP:rs754916169Ensembl.1
Natural variantiVAR_066990130N → H in RP62; results in a complete loss of kinase activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906646EnsemblClinVar.1
Natural variantiVAR_066991166R → H in RP62. 1 PublicationCorresponds to variant dbSNP:rs387906648EnsemblClinVar.1
Natural variantiVAR_066992181I → T in RP62. 1 PublicationCorresponds to variant dbSNP:rs750559316Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi33K → R: Abolishes autophosphorylation. 1 Publication1
Mutagenesisi157T → A: Abolishes autophosphorylation and impairs kinase activity. 1 Publication1
Mutagenesisi159Y → F: Abolishes autophosphorylation and impairs kinase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi4117
GeneReviewsiMAK
MalaCardsiMAK
MIMi614181 phenotype
OpenTargetsiENSG00000111837
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA30564

Chemistry databases

ChEMBLiCHEMBL1163106
GuidetoPHARMACOLOGYi2061

Polymorphism and mutation databases

BioMutaiMAK
DMDMi13432166

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000862841 – 623Serine/threonine-protein kinase MAKAdd BLAST623

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei157Phosphothreonine; by autocatalysis1 Publication1
Modified residuei159Phosphotyrosine; by autocatalysis1 Publication1

Post-translational modificationi

Autophosphorylated. Phosphorylated on serine and threonine residues.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP20794
PaxDbiP20794
PeptideAtlasiP20794
PRIDEiP20794
ProteomicsDBi53787
53788 [P20794-2]
53789 [P20794-3]

PTM databases

iPTMnetiP20794
PhosphoSitePlusiP20794

Expressioni

Tissue specificityi

Expressed in prostate cancer cell lines at generally higher levels than in normal prostate epithelial cell lines. Isoform 1 is expressed in kidney, testis, lung, trachea, and retina. Isoform 2 is retina-specific where it is expressed in rod and cone photoreceptors.2 Publications

Inductioni

Up-regulated by dihydrotestosterone (DHT) in androgen-sensitive LNCaP prostate cancer cells in a dose-dependent manner. Up-regulation by DHT is transient, reaching maximum levels after 24 hours and decreases slightly after 48 hours.1 Publication

Gene expression databases

BgeeiENSG00000111837
CleanExiHS_MAK
ExpressionAtlasiP20794 baseline and differential
GenevisibleiP20794 HS

Interactioni

Subunit structurei

Interacts with RP1 (By similarity). Interacts with AR and CDK20. Found in a complex containing MAK, AR and NCOA3. Interacts with FZR1 (via WD repeats).By similarity2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi110291, 16 interactors
CORUMiP20794
IntActiP20794, 15 interactors
STRINGi9606.ENSP00000313021

Chemistry databases

BindingDBiP20794

Structurei

3D structure databases

ProteinModelPortaliP20794
SMRiP20794
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 284Protein kinasePROSITE-ProRule annotationAdd BLAST281

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi309 – 368Glu/Pro-richAdd BLAST60

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0661 Eukaryota
ENOG410XPBB LUCA
GeneTreeiENSGT00650000093283
HOGENOMiHOG000233024
HOVERGENiHBG014652
InParanoidiP20794
KOiK08829
OMAiYATYNQS
OrthoDBiEOG091G0DU3
PhylomeDBiP20794
TreeFamiTF328769

Family and domain databases

InterProiView protein in InterPro
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR008271 Ser/Thr_kinase_AS
PfamiView protein in Pfam
PF00069 Pkinase, 1 hit
SMARTiView protein in SMART
SM00220 S_TKc, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P20794-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNRYTTMRQL GDGTYGSVLM GKSNESGELV AIKRMKRKFY SWDECMNLRE
60 70 80 90 100
VKSLKKLNHA NVIKLKEVIR ENDHLYFIFE YMKENLYQLM KDRNKLFPES
110 120 130 140 150
VIRNIMYQIL QGLAFIHKHG FFHRDMKPEN LLCMGPELVK IADFGLAREL
160 170 180 190 200
RSQPPYTDYV STRWYRAPEV LLRSSVYSSP IDVWAVGSIM AELYMLRPLF
210 220 230 240 250
PGTSEVDEIF KICQVLGTPK KSDWPEGYQL ASSMNFRFPQ CVPINLKTLI
260 270 280 290 300
PNASNEAIQL MTEMLNWDPK KRPTASQALK HPYFQVGQVL GPSSNHLESK
310 320 330 340 350
QSLNKQLQPL ESKPSLVEVE PKPLPDIIDQ VVGQPQPKTS QQPLQPIQPP
360 370 380 390 400
QNLSVQQPPK QQSQEKPPQT LFPSIVKNMP TKPNGTLSHK SGRRRWGQTI
410 420 430 440 450
FKSGDSWEEL EDYDFGASHS KKPSMGVFKE KRKKDSPFRL PEPVPSGSNH
460 470 480 490 500
STGENKSLPA VTSLKSDSEL STAPTSKQYY LKQSRYLPGV NPKKVSLIAS
510 520 530 540 550
GKEINPHTWS NQLFPKSLGP VGAELAFKRS NAGNLGSYAT YNQSGYIPSF
560 570 580 590 600
LKKEVQSAGQ RIHLAPLNAT ASEYTWNTKT GRGQFSGRTY NPTAKNLNIV
610 620
NRAQPIPSVH GRTDWVAKYG GHR
Length:623
Mass (Da):70,581
Last modified:April 27, 2001 - v2
Checksum:i67F540266F370285
GO
Isoform 2 (identifier: P20794-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     532-532: A → AEESIIKPIEKLSCNETFPEKLEDPQ

Show »
Length:648
Mass (Da):73,480
Checksum:iFDF1DD3370B51062
GO
Isoform 3 (identifier: P20794-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     533-572: Missing.

Note: No experimental confirmation available.
Show »
Length:583
Mass (Da):66,345
Checksum:i683A5629058D81D2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06698813G → S in RP62; results in a complete loss of kinase activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906647EnsemblClinVar.1
Natural variantiVAR_06698927G → R in RP62. 1 PublicationCorresponds to variant dbSNP:rs754916169Ensembl.1
Natural variantiVAR_066990130N → H in RP62; results in a complete loss of kinase activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387906646EnsemblClinVar.1
Natural variantiVAR_066991166R → H in RP62. 1 PublicationCorresponds to variant dbSNP:rs387906648EnsemblClinVar.1
Natural variantiVAR_066992181I → T in RP62. 1 PublicationCorresponds to variant dbSNP:rs750559316Ensembl.1
Natural variantiVAR_042006189I → V1 PublicationCorresponds to variant dbSNP:rs56215624Ensembl.1
Natural variantiVAR_042007272R → P in a breast infiltrating ductal carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_066993325P → L1 PublicationCorresponds to variant dbSNP:rs371971492Ensembl.1
Natural variantiVAR_053932329D → E. Corresponds to variant dbSNP:rs17579447Ensembl.1
Natural variantiVAR_042008384N → S1 PublicationCorresponds to variant dbSNP:rs55773478Ensembl.1
Natural variantiVAR_042009520P → S1 PublicationCorresponds to variant dbSNP:rs567083EnsemblClinVar.1
Natural variantiVAR_042010550F → L1 PublicationCorresponds to variant dbSNP:rs56217305Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042470532A → AEESIIKPIEKLSCNETFPE KLEDPQ in isoform 2. 2 Publications1
Alternative sequenceiVSP_042471533 – 572Missing in isoform 3. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF505623 mRNA Translation: AAN16405.1
JN226411 mRNA Translation: AEL29206.1
AB593146 mRNA Translation: BAJ84080.1
AL024498 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55283.1
M35863 Genomic DNA Translation: AAA36195.1
CCDSiCCDS4516.1 [P20794-1]
CCDS75398.1 [P20794-3]
CCDS75399.1 [P20794-2]
PIRiB34711
RefSeqiNP_001229314.1, NM_001242385.1 [P20794-3]
NP_001229886.1, NM_001242957.2 [P20794-2]
NP_005897.1, NM_005906.5 [P20794-1]
XP_011512921.1, XM_011514619.2 [P20794-2]
XP_011512922.1, XM_011514620.2 [P20794-2]
XP_011512924.1, XM_011514622.2 [P20794-3]
XP_016866352.1, XM_017010863.1 [P20794-2]
XP_016866353.1, XM_017010864.1 [P20794-1]
UniGeneiHs.446125

Genome annotation databases

EnsembliENST00000313243; ENSP00000313021; ENSG00000111837 [P20794-1]
ENST00000354489; ENSP00000346484; ENSG00000111837 [P20794-2]
ENST00000474039; ENSP00000476067; ENSG00000111837 [P20794-1]
ENST00000536370; ENSP00000442221; ENSG00000111837 [P20794-3]
GeneIDi4117
KEGGihsa:4117
UCSCiuc003mzm.4 human [P20794-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMAK_HUMAN
AccessioniPrimary (citable) accession number: P20794
Secondary accession number(s): F1T0K6
, G1FL29, Q547D0, Q9NUH7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: April 27, 2001
Last modified: July 18, 2018
This is version 168 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

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