Details for: MAK

Gene ID: 4117

Symbol: MAK

Ensembl ID: ENSG00000111837

Description: male germ cell associated kinase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 142.8523
    Cell Significance Index: -22.2200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 87.9976
    Cell Significance Index: -22.3200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 43.0759
    Cell Significance Index: -17.7500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 36.4301
    Cell Significance Index: -14.8000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.0785
    Cell Significance Index: -22.2900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.4282
    Cell Significance Index: -14.7300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 10.4243
    Cell Significance Index: 657.0100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.3609
    Cell Significance Index: -16.1100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.6538
    Cell Significance Index: -22.3100
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 4.8893
    Cell Significance Index: 68.6700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 3.3594
    Cell Significance Index: 57.5700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.5470
    Cell Significance Index: 65.4700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 2.3671
    Cell Significance Index: 56.7700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 2.2087
    Cell Significance Index: 14.9700
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.1844
    Cell Significance Index: 19.3900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.9956
    Cell Significance Index: 122.6600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.5932
    Cell Significance Index: 34.0600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.3965
    Cell Significance Index: 27.2600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.2424
    Cell Significance Index: 180.6000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2044
    Cell Significance Index: 241.6000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1644
    Cell Significance Index: 231.0800
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.0114
    Cell Significance Index: 6.2400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7497
    Cell Significance Index: 42.0700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.7200
    Cell Significance Index: 10.2500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6607
    Cell Significance Index: 25.0200
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.5773
    Cell Significance Index: 7.2700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5756
    Cell Significance Index: 25.4600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5526
    Cell Significance Index: 198.2000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3942
    Cell Significance Index: 30.2500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3801
    Cell Significance Index: 72.3400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3686
    Cell Significance Index: 24.7900
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.3352
    Cell Significance Index: 4.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2863
    Cell Significance Index: 440.7900
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.2069
    Cell Significance Index: 2.7600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1949
    Cell Significance Index: 359.4900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1938
    Cell Significance Index: 364.9300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1882
    Cell Significance Index: 18.6200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1772
    Cell Significance Index: 160.0100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1764
    Cell Significance Index: 239.8700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1392
    Cell Significance Index: 76.0300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1216
    Cell Significance Index: 3.0400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1080
    Cell Significance Index: 1.3400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1056
    Cell Significance Index: 2.9500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0951
    Cell Significance Index: 11.6900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0845
    Cell Significance Index: 13.7500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0814
    Cell Significance Index: 0.9700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0770
    Cell Significance Index: 0.9600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0651
    Cell Significance Index: 41.3700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0643
    Cell Significance Index: 11.6000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0371
    Cell Significance Index: 16.8400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0236
    Cell Significance Index: 2.5700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0139
    Cell Significance Index: 0.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0083
    Cell Significance Index: -0.2900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0101
    Cell Significance Index: -0.6200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0110
    Cell Significance Index: -4.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0160
    Cell Significance Index: -0.4600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0212
    Cell Significance Index: -15.6800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0235
    Cell Significance Index: -17.2000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0264
    Cell Significance Index: -7.6100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0279
    Cell Significance Index: -21.1200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0291
    Cell Significance Index: -16.4000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0343
    Cell Significance Index: -21.4200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0516
    Cell Significance Index: -2.3400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0519
    Cell Significance Index: -8.8600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0624
    Cell Significance Index: -8.0000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0626
    Cell Significance Index: -0.7900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0672
    Cell Significance Index: -1.4600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0723
    Cell Significance Index: -1.0900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0835
    Cell Significance Index: -5.0200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0883
    Cell Significance Index: -10.2900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0885
    Cell Significance Index: -18.6500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0971
    Cell Significance Index: -10.1100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1028
    Cell Significance Index: -7.1100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1117
    Cell Significance Index: -14.4300
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1129
    Cell Significance Index: -0.6700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1159
    Cell Significance Index: -15.9100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1344
    Cell Significance Index: -3.5900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1453
    Cell Significance Index: -4.6600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1458
    Cell Significance Index: -10.8700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1464
    Cell Significance Index: -16.7700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1467
    Cell Significance Index: -6.8400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1479
    Cell Significance Index: -3.1400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1548
    Cell Significance Index: -18.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1591
    Cell Significance Index: -16.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1663
    Cell Significance Index: -3.4500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1681
    Cell Significance Index: -4.5100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1714
    Cell Significance Index: -12.1200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2045
    Cell Significance Index: -6.7000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2066
    Cell Significance Index: -5.9000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2188
    Cell Significance Index: -6.9700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2389
    Cell Significance Index: -12.4100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2416
    Cell Significance Index: -11.3600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2565
    Cell Significance Index: -13.3600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2809
    Cell Significance Index: -18.1200
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.2813
    Cell Significance Index: -1.8300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2845
    Cell Significance Index: -4.2000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2969
    Cell Significance Index: -5.8700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3058
    Cell Significance Index: -6.1400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3076
    Cell Significance Index: -16.1500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3275
    Cell Significance Index: -7.1700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** MAK is a member of the protein kinase family, characterized by its ability to phosphorylate and regulate the activity of downstream targets. The gene is significantly expressed in cells of the eye, including photoreceptor cells, retinal rod cells, and lens epithelial cells. Its expression is also observed in other cell types, such as colon goblet cells and pigmented epithelial cells. The protein kinase activity of MAK is essential for its function, as it undergoes autophosphorylation and interacts with other proteins to regulate cellular processes. **Pathways and Functions:** MAK is involved in a wide range of cellular pathways, including: 1. **Spermatogenesis:** MAK plays a crucial role in the development and maturation of sperm cells. Its kinase activity regulates the phosphorylation of proteins involved in the spermatogenic process, ensuring the proper formation and function of spermatozoa. 2. **Photoreceptor Cell Maintenance:** MAK is essential for maintaining the health and function of photoreceptor cells in the retina. Its kinase activity regulates the phosphorylation of proteins involved in photoreceptor cell survival and differentiation. 3. **Protein Phosphorylation:** MAK is a key regulator of protein phosphorylation, which is a critical post-translational modification that controls protein activity, localization, and interactions. 4. **Intracellular Signal Transduction:** MAK participates in various intracellular signaling pathways, including those involved in cell differentiation, survival, and proliferation. **Clinical Significance:** The dysregulation of MAK has been implicated in various human diseases, including: 1. **Retinal Degeneration:** Mutations in the MAK gene have been associated with retinal degeneration, a condition characterized by the progressive loss of photoreceptor cells. 2. **Spermatogenic Failure:** Abnormalities in MAK expression and function have been linked to spermatogenic failure, a condition that affects male fertility. 3. **Cancer:** The kinase activity of MAK has been shown to regulate cell proliferation and survival, making it a potential target for cancer therapy. In conclusion, MAK is a multifunctional protein kinase that plays a critical role in various cellular processes, including spermatogenesis, photoreceptor cell maintenance, and protein phosphorylation. Its dysregulation has been implicated in human diseases, highlighting the importance of further research into the mechanisms underlying its function and the development of therapeutic strategies to target its activity.

Genular Protein ID: 730756980

Symbol: MAK_HUMAN

Name: Serine/threonine-protein kinase MAK

UniProtKB Accession Codes:

P20794 F1T0K6 G1FL29 Q547D0 Q9NUH7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CORUM 1 CTD 1 ChEBI 13 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 6 Ensembl 4 ExpressionAtlas 1 GO 27 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 8 Rhea 6 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12084720

Title: Identification of human male germ cell-associated kinase, a kinase transcriptionally activated by androgen in prostate cancer cells.

PubMed ID: 12084720

DOI: 10.1074/jbc.m203940200

PubMed ID: 21835304

Title: Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

PubMed ID: 21835304

DOI: 10.1016/j.ajhg.2011.07.005

PubMed ID: 21825139

Title: Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.

PubMed ID: 21825139

DOI: 10.1073/pnas.1108918108

PubMed ID: 21697133

Title: Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.

PubMed ID: 21697133

DOI: 10.1167/iovs.11-7479

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 2183027

Title: A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis.

PubMed ID: 2183027

DOI: 10.1128/mcb.10.5.2261-2268.1990

PubMed ID: 16951154

Title: Male germ cell-associated kinase, a male-specific kinase regulated by androgen, is a coactivator of androgen receptor in prostate cancer cells.

PubMed ID: 16951154

DOI: 10.1158/0008-5472.can-06-1636

PubMed ID: 21986944

Title: Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/C(CDH1).

PubMed ID: 21986944

DOI: 10.1038/onc.2011.464

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

Sequence Information:

  • Length: 623
  • Mass: 70581
  • Checksum: 67F540266F370285
  • Sequence:
    • MNRYTTMRQL GDGTYGSVLM GKSNESGELV AIKRMKRKFY SWDECMNLRE VKSLKKLNHA 
NVIKLKEVIR ENDHLYFIFE YMKENLYQLM KDRNKLFPES VIRNIMYQIL QGLAFIHKHG 
FFHRDMKPEN LLCMGPELVK IADFGLAREL RSQPPYTDYV STRWYRAPEV LLRSSVYSSP 
IDVWAVGSIM AELYMLRPLF PGTSEVDEIF KICQVLGTPK KSDWPEGYQL ASSMNFRFPQ 
CVPINLKTLI PNASNEAIQL MTEMLNWDPK KRPTASQALK HPYFQVGQVL GPSSNHLESK 
QSLNKQLQPL ESKPSLVEVE PKPLPDIIDQ VVGQPQPKTS QQPLQPIQPP QNLSVQQPPK 
QQSQEKPPQT LFPSIVKNMP TKPNGTLSHK SGRRRWGQTI FKSGDSWEEL EDYDFGASHS 
KKPSMGVFKE KRKKDSPFRL PEPVPSGSNH STGENKSLPA VTSLKSDSEL STAPTSKQYY 
LKQSRYLPGV NPKKVSLIAS GKEINPHTWS NQLFPKSLGP VGAELAFKRS NAGNLGSYAT 
YNQSGYIPSF LKKEVQSAGQ RIHLAPLNAT ASEYTWNTKT GRGQFSGRTY NPTAKNLNIV 
NRAQPIPSVH GRTDWVAKYG GHR

Genular Protein ID: 1533420699

Symbol: F8VBW7_HUMAN

Name: N/A

UniProtKB Accession Codes:

F8VBW7

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 RefSeq 1 SAM 1

Sequence Information:

  • Length: 52
  • Mass: 5735
  • Checksum: BB01E1C61A435662
  • Sequence:
    • PVGAELAFKR SNAEESIIKP IEKLSCNETF PEKLEDPQGN LGSYATYNQS GY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.