Details for: KRT9

Gene ID: 3857

Symbol: KRT9

Ensembl ID: ENSG00000171403

Description: keratin 9

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: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.5881
    Cell Significance Index: 14.2500
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.3702
    Cell Significance Index: 5.2700
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.1583
    Cell Significance Index: 2.0000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0314
    Cell Significance Index: 13.9000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0285
    Cell Significance Index: 1.4800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0160
    Cell Significance Index: 1.1300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0063
    Cell Significance Index: 0.0900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0033
    Cell Significance Index: -1.4900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0047
    Cell Significance Index: -3.4600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0063
    Cell Significance Index: -0.3000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0071
    Cell Significance Index: -0.8100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0098
    Cell Significance Index: -1.3400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0192
    Cell Significance Index: -3.2800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0219
    Cell Significance Index: -3.9400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0294
    Cell Significance Index: -0.8000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0339
    Cell Significance Index: -6.7300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0339
    Cell Significance Index: -6.8100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0468
    Cell Significance Index: -5.7500
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0572
    Cell Significance Index: -0.3800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0601
    Cell Significance Index: -0.8200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0627
    Cell Significance Index: -8.1000
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0849
    Cell Significance Index: -1.1100
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0888
    Cell Significance Index: -1.5300
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0990
    Cell Significance Index: -1.0600
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0994
    Cell Significance Index: -1.3400
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: -0.1065
    Cell Significance Index: -1.2100
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.1081
    Cell Significance Index: -1.0700
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.1097
    Cell Significance Index: -1.3900
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.1118
    Cell Significance Index: -1.3500
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.1145
    Cell Significance Index: -1.2500
  • Cell Name: podocyte (CL0000653)
    Fold Change: -0.1186
    Cell Significance Index: -1.3600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1190
    Cell Significance Index: -8.8700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1219
    Cell Significance Index: -6.8400
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.1309
    Cell Significance Index: -2.6100
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.1331
    Cell Significance Index: -1.5400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1340
    Cell Significance Index: -9.0100
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1340
    Cell Significance Index: -1.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1357
    Cell Significance Index: -6.3800
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.1393
    Cell Significance Index: -1.2700
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.1531
    Cell Significance Index: -1.3800
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.1535
    Cell Significance Index: -1.6400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1545
    Cell Significance Index: -8.1100
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.1617
    Cell Significance Index: -1.6800
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1619
    Cell Significance Index: -1.5500
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: -0.1679
    Cell Significance Index: -1.5900
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.1690
    Cell Significance Index: -1.6200
  • Cell Name: airway submucosal gland duct basal cell (CL4033024)
    Fold Change: -0.1699
    Cell Significance Index: -1.4900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1758
    Cell Significance Index: -4.7100
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.1826
    Cell Significance Index: -2.1900
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: -0.1844
    Cell Significance Index: -1.6500
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.1871
    Cell Significance Index: -1.6700
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: -0.1893
    Cell Significance Index: -1.6000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1971
    Cell Significance Index: -6.9100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2006
    Cell Significance Index: -5.9100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2046
    Cell Significance Index: -6.7000
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: -0.2101
    Cell Significance Index: -1.5100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2126
    Cell Significance Index: -4.5500
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.2126
    Cell Significance Index: -2.2000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2176
    Cell Significance Index: -5.8100
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.2186
    Cell Significance Index: -1.5700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2198
    Cell Significance Index: -7.0000
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.2215
    Cell Significance Index: -1.4100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2230
    Cell Significance Index: -5.5700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2305
    Cell Significance Index: -8.4600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2322
    Cell Significance Index: -8.1600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2357
    Cell Significance Index: -5.1600
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: -0.2379
    Cell Significance Index: -2.7600
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.2424
    Cell Significance Index: -1.5000
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.2430
    Cell Significance Index: -2.5200
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.2449
    Cell Significance Index: -4.1600
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2592
    Cell Significance Index: -6.6100
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: -0.2593
    Cell Significance Index: -1.7300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2670
    Cell Significance Index: -6.6600
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.2674
    Cell Significance Index: -3.1600
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.2699
    Cell Significance Index: -1.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2742
    Cell Significance Index: -7.9000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2774
    Cell Significance Index: -6.9200
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.2871
    Cell Significance Index: -2.6100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2949
    Cell Significance Index: -4.9600
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.2992
    Cell Significance Index: -4.1500
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.3044
    Cell Significance Index: -3.6400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3056
    Cell Significance Index: -8.7600
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.3058
    Cell Significance Index: -4.2000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3206
    Cell Significance Index: -6.8100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3221
    Cell Significance Index: -6.9600
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.3282
    Cell Significance Index: -4.6100
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.3302
    Cell Significance Index: -5.3100
  • Cell Name: supporting cell (CL0000630)
    Fold Change: -0.3313
    Cell Significance Index: -1.5300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3390
    Cell Significance Index: -5.0800
  • Cell Name: fibroblast (CL0000057)
    Fold Change: -0.3398
    Cell Significance Index: -3.1900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3432
    Cell Significance Index: -6.8900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3443
    Cell Significance Index: -4.9300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3459
    Cell Significance Index: -6.8400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.3509
    Cell Significance Index: -5.3300
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.3523
    Cell Significance Index: -4.1600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.3652
    Cell Significance Index: -4.2600
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3660
    Cell Significance Index: -5.1300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3681
    Cell Significance Index: -6.1600

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:** KRT9 is widely expressed in epithelial cells, including goblet cells, absorptive cells, and intestinal epithelial cells, as well as in immune cells such as T cells, plasma cells, and B cells. 2. **Protein Structure:** KRT9 is a type I keratin, consisting of a central α-helix and two N-terminal α-helices. Its co-expression with KRT1 forms a heterodimeric complex that provides mechanical stability to the cytoskeleton. 3. **Cellular Localization:** KRT9 is primarily localized to the cytoskeleton, particularly in intermediate filaments, although it can also be detected in the nucleus and extracellular space. 4. **Function:** KRT9 participates in maintaining epithelial cell integrity, structure, and function, as well as regulating cell differentiation, proliferation, and survival. **Pathways and Functions:** KRT9 is involved in various cellular processes, including: 1. **Cytoskeleton organization:** KRT9 contributes to the formation and maintenance of intermediate filaments, which provide mechanical strength and stability to cells. 2. **Epithelial cell differentiation:** KRT9 plays a role in regulating epithelial cell differentiation, particularly in the development of the epithelial barrier. 3. **Apoptosis regulation:** KRT9 can influence apoptosis (programmed cell death) by interacting with other proteins involved in the apoptotic pathway. 4. **Cell-cell adhesion:** KRT9 may contribute to cell-cell adhesion by interacting with other adhesion molecules, such as cadherins. **Clinical Significance:** Dysregulation of KRT9 expression has been implicated in various diseases, including: 1. **Cancer:** Altered expression of KRT9 has been observed in various types of cancer, including breast, lung, and colon cancer, suggesting its potential role as a biomarker or therapeutic target. 2. **Autoimmune diseases:** KRT9 has been linked to autoimmune diseases, such as psoriasis and atopic dermatitis, where it may contribute to the disruption of the epithelial barrier. 3. **Skin disorders:** KRT9 mutations have been associated with skin disorders, such as epidermolysis bullosa simplex, highlighting its importance in maintaining skin integrity. In conclusion, KRT9 is a critical component of the intermediate filament cytoskeleton in epithelial cells, playing a vital role in maintaining cellular integrity, structure, and function. Its dysregulation has been implicated in various diseases, highlighting the need for further research into its role in human health and disease.

Genular Protein ID: 242928717

Symbol: K1C9_HUMAN

Name: Keratin, type I cytoskeletal 9

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7507869

Title: Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression.

PubMed ID: 7507869

DOI: 10.1111/j.1432-0436.1993.tb00033.x

PubMed ID: 7512862

Title: Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

PubMed ID: 7512862

DOI: 10.1038/ng0294-174

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 8647270

Title: Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation.

PubMed ID: 8647270

DOI: 10.1016/0014-5793(96)00393-6

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: 2140676

Title: Human placenta contains an epithelial scatter protein.

PubMed ID: 2140676

DOI: 10.1016/0006-291x(90)91140-n

PubMed ID: 10218578

Title: Demonstration of the pathogenic effect of point mutated keratin 9 in vivo.

PubMed ID: 10218578

DOI: 10.1016/s0014-5793(99)00233-1

PubMed ID: 10201533

Title: Regulation of keratin 9 in nonpalmoplantar keratinocytes by palmoplantar fibroblasts through epithelial-mesenchymal interactions.

PubMed ID: 10201533

DOI: 10.1046/j.1523-1747.1999.00544.x

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 7516304

Title: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.

PubMed ID: 7516304

DOI: 10.1007/bf00201564

PubMed ID: 7523529

Title: Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.

PubMed ID: 7523529

DOI: 10.1111/1523-1747.ep12395570

PubMed ID: 7511021

Title: Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer.

PubMed ID: 7511021

DOI: 10.1038/ng0194-106

PubMed ID: 7532199

Title: Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.

PubMed ID: 7532199

DOI: 10.1111/1523-1747.ep12666018

PubMed ID: 9204965

Title: A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma.

PubMed ID: 9204965

DOI: 10.1111/1523-1747.ep12276751

PubMed ID: 9856842

Title: Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

PubMed ID: 9856842

DOI: 10.1046/j.1523-1747.1998.00445.x

PubMed ID: 10632938

Title: Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma.

PubMed ID: 10632938

DOI: 10.1046/j.1525-1470.1999.00111.x

PubMed ID: 10844507

Title: Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene.

PubMed ID: 10844507

DOI: 10.1046/j.1365-2230.2000.00626.x

PubMed ID: 12192490

Title: Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation.

PubMed ID: 12192490

DOI: 10.1007/s00403-002-0328-9

PubMed ID: 12072061

Title: Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.

PubMed ID: 12072061

DOI: 10.1046/j.1365-2133.2002.04764.x

PubMed ID: 12926810

Title: Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma.

PubMed ID: 12926810

DOI: 10.1080/00015550310016652

PubMed ID: 12838553

Title: A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

PubMed ID: 12838553

DOI: 10.1002/ajmg.a.20090

PubMed ID: 14675368

Title: Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.

PubMed ID: 14675368

DOI: 10.1111/j.0906-6705.2003.00012.x

PubMed ID: 15099359

Title: A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.

PubMed ID: 15099359

DOI: 10.1111/j.0007-0963.2004.05865.x

PubMed ID: 15115518

Title: A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.

PubMed ID: 15115518

DOI: 10.1111/j.1365-2230.2004.01497.x

PubMed ID: 15605275

Title: A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma.

PubMed ID: 15605275

DOI: 10.1007/s00403-004-0534-8

PubMed ID: 16911293

Title: L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma.

PubMed ID: 16911293

DOI: 10.1111/j.1365-2133.2006.07358.x

PubMed ID: 16961539

Title: A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma.

PubMed ID: 16961539

DOI: 10.1111/j.1365-4632.2006.02910.x

PubMed ID: 19874353

Title: Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.

PubMed ID: 19874353

DOI: 10.1111/j.1365-2230.2009.03700.x

PubMed ID: 20964665

Title: A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma.

PubMed ID: 20964665

DOI: 10.1111/j.1365-4632.2009.04295.x

PubMed ID: 21715251

Title: A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly.

PubMed ID: 21715251

DOI: 10.1684/ejd.2011.1458

Sequence Information:

  • Length: 623
  • Mass: 62064
  • Checksum: 45C833749B63873D
  • Sequence:
  • MSCRQFSSSY LSRSGGGGGG GLGSGGSIRS SYSRFSSSGG GGGGGRFSSS SGYGGGSSRV 
    CGRGGGGSFG YSYGGGSGGG FSASSLGGGF GGGSRGFGGA SGGGYSSSGG FGGGFGGGSG 
    GGFGGGYGSG FGGFGGFGGG AGGGDGGILT ANEKSTMQEL NSRLASYLDK VQALEEANND 
    LENKIQDWYD KKGPAAIQKN YSPYYNTIDD LKDQIVDLTV GNNKTLLDID NTRMTLDDFR 
    IKFEMEQNLR QGVDADINGL RQVLDNLTME KSDLEMQYET LQEELMALKK NHKEEMSQLT 
    GQNSGDVNVE INVAPGKDLT KTLNDMRQEY EQLIAKNRKD IENQYETQIT QIEHEVSSSG 
    QEVQSSAKEV TQLRHGVQEL EIELQSQLSK KAALEKSLED TKNRYCGQLQ MIQEQISNLE 
    AQITDVRQEI ECQNQEYSLL LSIKMRLEKE IETYHNLLEG GQEDFESSGA GKIGLGGRGG 
    SGGSYGRGSR GGSGGSYGGG GSGGGYGGGS GSRGGSGGSY GGGSGSGGGS GGGYGGGSGG 
    GHSGGSGGGH SGGSGGNYGG GSGSGGGSGG GYGGGSGSRG GSGGSHGGGS GFGGESGGSY 
    GGGEEASGSG GGYGGGSGKS SHS

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.