Details for: MKLN1

Gene ID: 4289

Symbol: MKLN1

Ensembl ID: ENSG00000128585

Description: muskelin 1

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: 663.3762
    Cell Significance Index: -103.1900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 412.1929
    Cell Significance Index: -104.5500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 204.7718
    Cell Significance Index: -83.1900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 191.8018
    Cell Significance Index: -98.6600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 157.4315
    Cell Significance Index: -105.6400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 87.1858
    Cell Significance Index: -83.2400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 86.1061
    Cell Significance Index: -106.1700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 36.7208
    Cell Significance Index: -98.3700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 34.6571
    Cell Significance Index: -75.8500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 32.7955
    Cell Significance Index: -100.7300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 27.2323
    Cell Significance Index: -107.4600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 6.9958
    Cell Significance Index: 47.4000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 4.2362
    Cell Significance Index: 108.8900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 4.1353
    Cell Significance Index: 80.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 3.8880
    Cell Significance Index: 298.3600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 3.4933
    Cell Significance Index: 196.0300
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.9921
    Cell Significance Index: 26.5600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.9518
    Cell Significance Index: 592.1200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.8583
    Cell Significance Index: 1025.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.7928
    Cell Significance Index: 5150.6500
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 2.6610
    Cell Significance Index: 37.2100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.5460
    Cell Significance Index: 505.2700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.4734
    Cell Significance Index: 1710.7100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.4587
    Cell Significance Index: 59.9900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.4392
    Cell Significance Index: 164.0100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.2561
    Cell Significance Index: 48.2300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.0970
    Cell Significance Index: 3228.2000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.5804
    Cell Significance Index: 22.7300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.4367
    Cell Significance Index: 41.0000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.3253
    Cell Significance Index: 58.6200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.2494
    Cell Significance Index: 2352.5300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.2431
    Cell Significance Index: 34.7400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.2160
    Cell Significance Index: 46.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.1685
    Cell Significance Index: 742.0900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.0830
    Cell Significance Index: 66.5700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9391
    Cell Significance Index: 169.2900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9192
    Cell Significance Index: 113.0300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7476
    Cell Significance Index: 675.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.6987
    Cell Significance Index: 317.1300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.4913
    Cell Significance Index: 8.4200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4683
    Cell Significance Index: 76.1600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.4582
    Cell Significance Index: 623.0800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4380
    Cell Significance Index: 12.6200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4192
    Cell Significance Index: 228.9100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4163
    Cell Significance Index: 9.0200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3671
    Cell Significance Index: 50.4100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3289
    Cell Significance Index: 145.4300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.2145
    Cell Significance Index: 3.0800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1743
    Cell Significance Index: 4.1800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1617
    Cell Significance Index: 2.0100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.1549
    Cell Significance Index: 2.6100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1019
    Cell Significance Index: 2.7300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0905
    Cell Significance Index: 4.1000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0598
    Cell Significance Index: 2.1000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0335
    Cell Significance Index: -6.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0343
    Cell Significance Index: -4.9800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0352
    Cell Significance Index: -3.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0443
    Cell Significance Index: -7.5700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0653
    Cell Significance Index: -47.9000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0670
    Cell Significance Index: -49.6200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0757
    Cell Significance Index: -2.0200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0799
    Cell Significance Index: -49.8700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1019
    Cell Significance Index: -57.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.1280
    Cell Significance Index: -96.8800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1564
    Cell Significance Index: -16.2800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1671
    Cell Significance Index: -7.7900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2931
    Cell Significance Index: -61.7300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3165
    Cell Significance Index: -91.0700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3285
    Cell Significance Index: -38.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.3882
    Cell Significance Index: -49.7700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.3951
    Cell Significance Index: -42.9800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.4003
    Cell Significance Index: -40.9000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4022
    Cell Significance Index: -18.9100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4260
    Cell Significance Index: -6.2900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.5324
    Cell Significance Index: -68.7800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5634
    Cell Significance Index: -65.6600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.6015
    Cell Significance Index: -38.8100
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.6021
    Cell Significance Index: -9.1600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.6129
    Cell Significance Index: -9.8900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.6496
    Cell Significance Index: -8.1000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.6916
    Cell Significance Index: -78.9500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.7204
    Cell Significance Index: -82.5300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.7933
    Cell Significance Index: -50.0000
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.8140
    Cell Significance Index: -10.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.9044
    Cell Significance Index: -18.7600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.9121
    Cell Significance Index: -22.8000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.9133
    Cell Significance Index: -68.0700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.9264
    Cell Significance Index: -12.6400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -1.0350
    Cell Significance Index: -73.2000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.0488
    Cell Significance Index: -54.4800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -1.0796
    Cell Significance Index: -15.9400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -1.1089
    Cell Significance Index: -6.7000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.1136
    Cell Significance Index: -88.2000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -1.1493
    Cell Significance Index: -14.5100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.2471
    Cell Significance Index: -64.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.3063
    Cell Significance Index: -80.0900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.3199
    Cell Significance Index: -69.3000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.6142
    Cell Significance Index: -51.7000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -1.6264
    Cell Significance Index: -44.2700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.7017
    Cell Significance Index: -48.7800

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:** 1. **Expression Pattern:** MKLN1 is widely expressed in various cell types, including skeletal muscle fibers, cardiac neurons, astrocytes, and lens epithelial cells. 2. **Structural Features:** MKLN1 is a cytoplasmic protein with multiple domains, including a coiled-coil region, a proline-rich region, and a ubiquitin ligase-like domain. 3. **Functionality:** MKLN1 is involved in regulating the actin cytoskeleton, cell-matrix adhesion, and signal transduction pathways, including postsynaptic regulation and receptor internalization. 4. **Interactions:** MKLN1 interacts with various proteins, including actin-binding proteins, adhesion molecules, and signaling molecules. **Pathways and Functions:** 1. **Actin Cytoskeleton Organization:** MKLN1 regulates the dynamics of the actin cytoskeleton, influencing cell shape, motility, and contraction. 2. **Cell-Matrix Adhesion:** MKLN1 modulates cell-matrix adhesion, essential for tissue development, homeostasis, and disease progression. 3. **Signal Transduction:** MKLN1 participates in postsynaptic regulation, influencing neurotransmitter release and synaptic plasticity. 4. **Regulation of Receptor Internalization:** MKLN1 regulates the internalization of receptors, influencing signal transduction and cellular responses. 5. **Regulation of Cell Shape:** MKLN1 influences cell shape, modulating cell migration, proliferation, and differentiation. **Clinical Significance:** 1. **Muscular Dystrophy:** Abnormalities in MKLN1 expression have been linked to muscular dystrophy, highlighting its role in muscle development and function. 2. **Neurological Disorders:** MKLN1's involvement in postsynaptic regulation and signal transduction suggests its potential role in neurological disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Cancer:** Alterations in MKLN1 expression have been observed in various cancers, including breast, lung, and colon cancer, suggesting its potential as a biomarker or therapeutic target. 4. **Cardiovascular Disease:** MKLN1's role in regulating cell-matrix adhesion and signal transduction may contribute to the development of cardiovascular disease. In conclusion, MKLN1 is a multifunctional protein that plays a crucial role in maintaining cellular integrity, regulating cell shape, and modulating signal transduction pathways. Its involvement in various cellular processes highlights its potential as a therapeutic target for diseases characterized by cellular dysfunction, including muscular dystrophy, neurological disorders, and cancer. Further research is necessary to fully elucidate the functions of MKLN1 and its potential applications in human disease.

Genular Protein ID: 4207168953

Symbol: MKLN1_HUMAN

Name: Muskelin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10640805

Title: cDNA cloning of human muskelin and localisation of the muskelin (MKLN1) gene to human chromosome 7q32 and mouse chromosome 6 B1/B2 by physical mapping and FISH.

PubMed ID: 10640805

DOI: 10.1159/000015385

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 12559565

Title: A novel nuclear protein, Twa1, and Muskelin comprise a complex with RanBPM.

PubMed ID: 12559565

DOI: 10.1016/s0378-1119(02)01153-8

PubMed ID: 17467196

Title: RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat proteins ARMC8alpha and ARMC8beta are components of the CTLH complex.

PubMed ID: 17467196

DOI: 10.1016/j.gene.2007.02.032

PubMed ID: 18710924

Title: Novel role of the muskelin-RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation.

PubMed ID: 18710924

DOI: 10.1083/jcb.200801133

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 29911972

Title: The multi-subunit GID/CTLH E3 ligase promotes proliferation and targets the transcription factor Hbp1 for degradation.

PubMed ID: 29911972

DOI: 10.7554/elife.35528

Sequence Information:

  • Length: 735
  • Mass: 84768
  • Checksum: 1A8F06FE1DE9193D
  • Sequence:
  • MAAGGAVAAA PECRLLPYAL HKWSSFSSTY LPENILVDKP NDQSSRWSSE SNYPPQYLIL 
    KLERPAIVQN ITFGKYEKTH VCNLKKFKVF GGMNEENMTE LLSSGLKNDY NKETFTLKHK 
    IDEQMFPCRF IKIVPLLSWG PSFNFSIWYV ELSGIDDPDI VQPCLNWYSK YREQEAIRLC 
    LKHFRQHNYT EAFESLQKKT KIALEHPMLT DIHDKLVLKG DFDACEELIE KAVNDGLFNQ 
    YISQQEYKPR WSQIIPKSTK GDGEDNRPGM RGGHQMVIDV QTETVYLFGG WDGTQDLADF 
    WAYSVKENQW TCISRDTEKE NGPSARSCHK MCIDIQRRQI YTLGRYLDSS VRNSKSLKSD 
    FYRYDIDTNT WMLLSEDTAA DGGPKLVFDH QMCMDSEKHM IYTFGGRILT CNGSVDDSRA 
    SEPQFSGLFA FNCQCQTWKL LREDSCNAGP EDIQSRIGHC MLFHSKNRCL YVFGGQRSKT 
    YLNDFFSYDV DSDHVDIISD GTKKDSGMVP MTGFTQRATI DPELNEIHVL SGLSKDKEKR 
    EENVRNSFWI YDIVRNSWSC VYKNDQAAKD NPTKSLQEEE PCPRFAHQLV YDELHKVHYL 
    FGGNPGKSCS PKMRLDDFWS LKLCRPSKDY LLRHCKYLIR KHRFEEKAQV DPLSALKYLQ 
    NDLYITVDHS DPEETKEFQL LASALFKSGS DFTALGFSDV DHTYAQRTQL FDTLVNFFPD 
    SMTPPKGNLV DLITL

Genular Protein ID: 4245244450

Symbol: B4DG30_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 712
  • Mass: 82405
  • Checksum: 05F1BB68021FFB58
  • Sequence:
  • MLENMGIGIR NILVDKPNDQ SSRWSSESNY PPQYLILKLE RPAIVQNITF GKYEKTHVCN 
    LKKFKVFGGM NEENMTELLS SGLKNDYNKE TFTLKHKIDE QMFPCRFIKI VPLLSWGPSF 
    NFSIWYVELS GIDDPDIVQP CLNWYSKYRE QEAIRLCLKH FRQHNYTEAF ESLQKKTKIA 
    LEHPMLTDIH DKLVLKGDFD ACEELIEKAV NDGLFNQYIS QQEYKPRWSQ IIPKSTKGDG 
    EDNRPGMRGG HQMVIDVQTE TVYLFGGWDG TQDLADFWAY SVKENQWTCI SRDTEKENGP 
    SARSCHKMCI DIQRRQIYTL GRYLDSSVRN SKSLKSDFYR YDIDTNTWML LSEDTAADGG 
    PKLVFDHQMC MDSEKHMIYT FGGRILTCNG SVDDSRASEP QFSGLFAFNC QCQTWKLLRE 
    DSCNAGPEDI QSRIGHCMLF HSKNRCLYVF GGQRSKTYLN DFFSYDVDSD HVDIISDGTK 
    KDSGMVPMTG FTQRATIDPE LNEIHVLSGL SKDKEKREEN VRNSFWIYDI VRNSWSCVYK 
    NDQAAKDNPT KSLQEEEPCP RFAHQLVYDE LHKVHYLFGG NPGKSCSPKM RLDDFWSLKL 
    CRPSKDYLLR HCKYLIRKHR FEEKAQVDPL SALKYLQNDL YITVDHSDPE ETKEFQLLAS 
    ALFKSGSDFT ALGFSDVDHT YAQRTQLFDT LVNFFPDSMT PPKGNLVDLI TL

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.