Details for: MYOT

Gene ID: 9499

Symbol: MYOT

Ensembl ID: ENSG00000120729

Description: myotilin

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: amacrine cell (CL0000561)
    Fold Change: 9.47
    Marker Score: 30,352
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 4.9
    Marker Score: 4,693
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 3.84
    Marker Score: 9,611
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.5
    Marker Score: 29,613
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 3.02
    Marker Score: 40,118
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.66
    Marker Score: 7,584
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.61
    Marker Score: 7,490
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 1.89
    Marker Score: 1,436
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1,169
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.52
    Marker Score: 1,893
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169,071
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 871
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.24
    Marker Score: 19,457
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 488
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.02
    Marker Score: 691
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.02
    Marker Score: 3,625
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1
    Marker Score: 22,381
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,825
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,049
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.96
    Marker Score: 401
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.93
    Marker Score: 1,756
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5,234
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,288
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.87
    Marker Score: 262
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.84
    Marker Score: 644
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,263
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.73
    Marker Score: 327
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3,024
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.65
    Marker Score: 1,324
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.62
    Marker Score: 216
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6
    Marker Score: 387
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.57
    Marker Score: 457
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.56
    Marker Score: 3,381
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 175
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.55
    Marker Score: 243
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.54
    Marker Score: 327
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.54
    Marker Score: 3,559
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.53
    Marker Score: 1,500
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 476
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.46
    Marker Score: 274
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.42
    Marker Score: 174
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.4
    Marker Score: 235
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.4
    Marker Score: 131
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.37
    Marker Score: 212
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 372
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.35
    Marker Score: 544
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.35
    Marker Score: 95
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.31
    Marker Score: 345
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.31
    Marker Score: 419
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.31
    Marker Score: 493
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.3
    Marker Score: 201
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.3
    Marker Score: 713
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.29
    Marker Score: 357
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.29
    Marker Score: 1,195
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.28
    Marker Score: 285
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.28
    Marker Score: 350
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.28
    Marker Score: 133
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.27
    Marker Score: 131
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.26
    Marker Score: 117
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.26
    Marker Score: 129
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.25
    Marker Score: 558
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.25
    Marker Score: 2,382
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.24
    Marker Score: 77
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.23
    Marker Score: 68
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.23
    Marker Score: 151
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.22
    Marker Score: 133
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.22
    Marker Score: 2,287
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.21
    Marker Score: 228
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.21
    Marker Score: 67
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.21
    Marker Score: 13,004
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.21
    Marker Score: 1,794
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.2
    Marker Score: 205
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.19
    Marker Score: 348
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.19
    Marker Score: 106
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.19
    Marker Score: 189
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.19
    Marker Score: 91
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.18
    Marker Score: 1,735
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.18
    Marker Score: 521
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.18
    Marker Score: 6,531
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.18
    Marker Score: 718
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.17
    Marker Score: 148
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.16
    Marker Score: 179
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.16
    Marker Score: 92
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.16
    Marker Score: 257
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.15
    Marker Score: 90
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.15
    Marker Score: 216

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** Myotilin is a member of the 4.1 protein family, which is known for its ability to bind actin filaments and regulate muscle contraction. The MYOT gene encodes a 55-kDa protein that is highly expressed in skeletal muscle fibers, cardiac muscle cells, and retinal cells. Myotilin's structure consists of four alpha-helical domains that interact with actin filaments, promoting muscle contraction and relaxation. Additionally, myotilin has been shown to interact with other proteins, such as alpha-actinin and actin-binding proteins, to regulate muscle structure and function. **Pathways and Functions** Myotilin is involved in several key cellular pathways, including: 1. **Actin binding and cytoskeleton organization**: Myotilin's interaction with actin filaments regulates muscle contraction and relaxation by modulating the tension in the sarcolemma. 2. **Axon guidance and neuronal development**: Myotilin's expression in retinal cells and neurons suggests a role in axon guidance and synaptic organization, which are critical for neural development and function. 3. **Muscle contraction and relaxation**: Myotilin's interaction with actin filaments and other proteins regulates muscle contraction and relaxation, ensuring proper muscle function. 4. **Cell adhesion and motility**: Myotilin's expression in retinal cells and other cell types suggests a role in cell adhesion and motility, which are important for tissue development and function. **Clinical Significance** Dysregulation of myotilin has been implicated in various human diseases, including: 1. **Muscular dystrophy**: Mutations in the MYOT gene have been linked to muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and degeneration. 2. **Neurodegenerative diseases**: Myotilin's expression in retinal cells and neurons suggests a potential role in neurodegenerative diseases, such as Alzheimer's and Parkinson's disease. 3. **Cardiac disease**: Myotilin's expression in cardiac muscle cells suggests a potential role in cardiac disease, including hypertrophy and failure. In conclusion, myotilin is a critical protein that plays a central role in maintaining muscle structure and function, as well as regulating cellular processes such as actin binding, axon guidance, and synaptic organization. Further research is needed to fully understand the function and significance of myotilin in human health and disease.

Genular Protein ID: 1313489953

Symbol: MYOTI_HUMAN

Name: Myotilin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10486214

Title: TTID: a novel gene at 5q31 encoding a protein with titin-like features.

PubMed ID: 10486214

DOI: 10.1006/geno.1999.5912

PubMed ID: 10369880

Title: Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.

PubMed ID: 10369880

DOI: 10.1093/hmg/8.7.1329

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 11038172

Title: Indications for a novel muscular dystrophy pathway: gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin.

PubMed ID: 11038172

DOI: 10.1083/jcb.151.2.235

PubMed ID: 12499399

Title: Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.

PubMed ID: 12499399

DOI: 10.1093/hmg/ddg020

PubMed ID: 16076904

Title: The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.

PubMed ID: 16076904

DOI: 10.1242/jcs.02484

PubMed ID: 19418025

Title: Solution structure of the first immunoglobulin domain of human myotilin.

PubMed ID: 19418025

DOI: 10.1007/s10858-009-9320-4

PubMed ID: 10958653

Title: Myotilin is mutated in limb girdle muscular dystrophy 1A.

PubMed ID: 10958653

DOI: 10.1093/hmg/9.14.2141

PubMed ID: 12428213

Title: Myotilin mutation found in second pedigree with LGMD1A.

PubMed ID: 12428213

DOI: 10.1086/344532

PubMed ID: 15111675

Title: Mutations in myotilin cause myofibrillar myopathy.

PubMed ID: 15111675

DOI: 10.1212/01.wnl.0000123576.74801.75

PubMed ID: 16380616

Title: A mutation in myotilin causes spheroid body myopathy.

PubMed ID: 16380616

DOI: 10.1212/01.wnl.0000188872.28149.9a

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 498
  • Mass: 55395
  • Checksum: 7F226DD43A0C611B
  • Sequence:
  • MFNYERPKHF IQSQNPCGSR LQPPGPETSS FSSQTKQSSI IIQPRQCTEQ RFSASSTLSS 
    HITMSSSAFP ASPKQHAGSN PGQRVTTTYN QSPASFLSSI LPSQPDYNSS KIPSAMDSNY 
    QQSSAGQPIN AKPSQTANAK PIPRTPDHEI QGSKEALIQD LERKLKCKDT LLHNGNQRLT 
    YEEKMARRLL GPQNAAAVFQ AQDDSGAQDS QQHNSEHARL QVPTSQVRSR STSRGDVNDQ 
    DAIQEKFYPP RFIQVPENMS IDEGRFCRMD FKVSGLPAPD VSWYLNGRTV QSDDLHKMIV 
    SEKGLHSLIF EVVRASDAGA YACVAKNRAG EATFTVQLDV LAKEHKRAPM FIYKPQSKKV 
    LEGDSVKLEC QISAIPPPKL FWKRNNEMVQ FNTDRISLYQ DNTGRVTLLI KDVNKKDAGW 
    YTVSAVNEAG VTTCNTRLDV TARPNQTLPA PKQLRVRPTF SKYLALNGKG LNVKQAFNPE 
    GEFQRLAAQS GLYESEEL

Genular Protein ID: 948217908

Symbol: A0A0C4DFM5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

Sequence Information:

  • Length: 498
  • Mass: 55395
  • Checksum: C9C8467F9A64F91F
  • Sequence:
  • MFNYERPKHF IQSQNPCGSR LQPPGPETSS FSSQTKQSSI IIQPRQCTEQ RFSASSTLSS 
    HITMSSSAFP ASPQQHAGSN PGQRVTTTYN QSPASFLSSI LPSQPDYNSS KIPSAMDSNY 
    QQSSAGQPIN AKPSQTANAK PIPRTPDHEI QGSKEALIQD LERKLKCKDT LLHNGNQRLT 
    YEEKMARRLL GPQNAAAVFQ AQDDSGAQDS QQHNSEHARL QVPTSQVRSR STSRGDVNDQ 
    DAIQEKFYPP RFIQVPENMS IDEGRFCRMD FKVSGLPAPD VSWYLNGRTV QSDDLHKMIV 
    SEKGLHSLIF EVVRASDAGA YACVAKNRAG EATFTVQLDV LAKEHKRAPM FIYKPQSKKV 
    LEGDSVKLEC QISAIPPPKL FWKRNNEMVQ FNTDRISLYQ DNTGRVTLLI KDVNKKDAGW 
    YTVSAVNEAG VTTCNTRLDV TARPNQTLPA PKQLRVRPTF SKYLALNGKG LNVKQAFNPE 
    GEFQRLAAQS GLYESEEL

Genular Protein ID: 2772076437

Symbol: B4DT68_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

Sequence Information:

  • Length: 383
  • Mass: 42904
  • Checksum: BCE8A970CE3AF5DB
  • Sequence:
  • MDSNYQQSSA GQPINAKPSQ TANAKPIPRT PDHEIQGSKE ALIQDLERKL KCKDTLLHNG 
    NQRLTYEEKM ARRLLGPQNA AAVFQAQDDS GAQDSQQHNS EHARLQVPTS QVRSRSTSRG 
    DVNDQDAIQE KFYPPRFIQV PENMSIDEGR FCRMDFKVSG LPAPDVSWYL NGRTVQSDDL 
    HKMIVSEKGL HSLIFEVVRA SDAGAYACVA KNRAGEATFT VQLDVLAKEH KRAPMFIYKP 
    QSKKVLEGDS VKLECQISAI PPPKLFWKRN NEMVQFNTDR ISLYQDNTGR VTLLIKDVNK 
    KDAGWYTVSA VNEAGVTTCN TRLDVTARPN QTLPAPKQLR VRPTFSKYLA LNGKGLNVKQ 
    AFNPEGEFQR LAAQSGLYES EEL

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.