Details for: MKLN1

Gene ID: 4289

Symbol: MKLN1

Ensembl ID: ENSG00000128585

Description: muskelin 1

Associated with

Cells (max top 100)

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

  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 5.18
    Marker Score: 12,980
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 4.95
    Marker Score: 3,258
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 4.59
    Marker Score: 2,485
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 4.54
    Marker Score: 5,656
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 4.51
    Marker Score: 2,970
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 4.34
    Marker Score: 5,834
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 4.02
    Marker Score: 4,870
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 3.88
    Marker Score: 3,445
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.8
    Marker Score: 67,379
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.46
    Marker Score: 6,660
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 3.38
    Marker Score: 2,345
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 3.36
    Marker Score: 3,870
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 3.27
    Marker Score: 73,145
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.26
    Marker Score: 7,159
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 3.21
    Marker Score: 68,490
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 3.16
    Marker Score: 7,561
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 3.13
    Marker Score: 13,093
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 3.12
    Marker Score: 808
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 3.08
    Marker Score: 2,941
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 3
    Marker Score: 1,668
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.96
    Marker Score: 1,725
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.96
    Marker Score: 864
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.9
    Marker Score: 2,238
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 2.89
    Marker Score: 12,067
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.86
    Marker Score: 13,248
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.83
    Marker Score: 1,493
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.63
    Marker Score: 830
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.61
    Marker Score: 51,870
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 2.58
    Marker Score: 1,284
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.54
    Marker Score: 2,203
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.53
    Marker Score: 1,513
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.51
    Marker Score: 2,170
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.51
    Marker Score: 1,468
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 2.51
    Marker Score: 3,644
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.5
    Marker Score: 7,134
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.49
    Marker Score: 1,391
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.48
    Marker Score: 37,103
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 2.48
    Marker Score: 906
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.48
    Marker Score: 18,992
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 2.47
    Marker Score: 893
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.43
    Marker Score: 92,268
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 2.41
    Marker Score: 2,598
  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.4
    Marker Score: 4,186
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.37
    Marker Score: 993
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.34
    Marker Score: 9,703
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.34
    Marker Score: 2,648
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 2.34
    Marker Score: 595
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.33
    Marker Score: 86,133
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.33
    Marker Score: 78,699
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.32
    Marker Score: 8,241
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.32
    Marker Score: 3,891
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.25
    Marker Score: 648
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.21
    Marker Score: 35,522
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 2.19
    Marker Score: 2,713
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.19
    Marker Score: 2,415
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.16
    Marker Score: 8,368
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 2.15
    Marker Score: 2,595
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.15
    Marker Score: 1,062
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.14
    Marker Score: 20,108
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 2.08
    Marker Score: 754
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 2.06
    Marker Score: 1,548
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.05
    Marker Score: 126,219
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2
    Marker Score: 6,564
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.98
    Marker Score: 8,056
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.97
    Marker Score: 2,107
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.95
    Marker Score: 8,126
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.95
    Marker Score: 20,088
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.9
    Marker Score: 923
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.9
    Marker Score: 10,183
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.89
    Marker Score: 17,971
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.84
    Marker Score: 689
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.83
    Marker Score: 15,758
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.82
    Marker Score: 1,847
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.81
    Marker Score: 574
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.81
    Marker Score: 615
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.81
    Marker Score: 1,013
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.8
    Marker Score: 493
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.8
    Marker Score: 6,049
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.75
    Marker Score: 4,031
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.75
    Marker Score: 6,203
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.74
    Marker Score: 9,153
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.7
    Marker Score: 630
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.7
    Marker Score: 2,408
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 1.7
    Marker Score: 512
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.68
    Marker Score: 1,799
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.65
    Marker Score: 623
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.64
    Marker Score: 10,522
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.63
    Marker Score: 4,381
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.63
    Marker Score: 2,289
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.59
    Marker Score: 8,569
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.59
    Marker Score: 11,965
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.58
    Marker Score: 2,438
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.52
    Marker Score: 6,558
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.52
    Marker Score: 489
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.52
    Marker Score: 475
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.51
    Marker Score: 1,236
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.5
    Marker Score: 475
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 1.49
    Marker Score: 518
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.48
    Marker Score: 892
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.48
    Marker Score: 3,487

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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.