Details for: TCHH

Gene ID: 7062

Symbol: TCHH

Ensembl ID: ENSG00000159450

Description: trichohyalin

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: granular cell of epidermis (CL0002189)
    Fold Change: 23.8625
    Cell Significance Index: 27.4700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 20.8561
    Cell Significance Index: -5.2900
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 1.7010
    Cell Significance Index: 12.2600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.5744
    Cell Significance Index: 34.1100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.1511
    Cell Significance Index: 70.5800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4260
    Cell Significance Index: 81.0700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2575
    Cell Significance Index: 5.4900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2440
    Cell Significance Index: 14.6500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1789
    Cell Significance Index: 19.4600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1639
    Cell Significance Index: 16.2100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1506
    Cell Significance Index: 135.9600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1109
    Cell Significance Index: 18.0400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0908
    Cell Significance Index: 6.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0614
    Cell Significance Index: 27.1400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0518
    Cell Significance Index: 2.3500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0498
    Cell Significance Index: 0.6800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0272
    Cell Significance Index: 14.8300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0227
    Cell Significance Index: 6.5500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0178
    Cell Significance Index: 0.8300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0177
    Cell Significance Index: 0.5100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0108
    Cell Significance Index: 0.3800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0104
    Cell Significance Index: 0.2600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0080
    Cell Significance Index: 2.8600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0063
    Cell Significance Index: 0.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0025
    Cell Significance Index: 0.5000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0006
    Cell Significance Index: 0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0026
    Cell Significance Index: -4.9700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0030
    Cell Significance Index: -0.1500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0032
    Cell Significance Index: -0.1400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0037
    Cell Significance Index: -0.1200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0049
    Cell Significance Index: -0.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0053
    Cell Significance Index: -9.8300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0065
    Cell Significance Index: -4.8900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0072
    Cell Significance Index: -9.7600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0084
    Cell Significance Index: -6.2400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0112
    Cell Significance Index: -6.3100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0121
    Cell Significance Index: -5.4700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0132
    Cell Significance Index: -1.6900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0158
    Cell Significance Index: -1.1200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0159
    Cell Significance Index: -0.7500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0207
    Cell Significance Index: -2.1100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0212
    Cell Significance Index: -0.5900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0215
    Cell Significance Index: -2.5000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0215
    Cell Significance Index: -1.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0226
    Cell Significance Index: -4.0700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0237
    Cell Significance Index: -0.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0238
    Cell Significance Index: -4.7200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0288
    Cell Significance Index: -3.7200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0319
    Cell Significance Index: -4.6400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0346
    Cell Significance Index: -7.2900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0347
    Cell Significance Index: -4.7600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0361
    Cell Significance Index: -0.7900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0400
    Cell Significance Index: -4.9200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0420
    Cell Significance Index: -7.1700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0489
    Cell Significance Index: -1.2200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0544
    Cell Significance Index: -0.8200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0610
    Cell Significance Index: -6.9900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0643
    Cell Significance Index: -3.9500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0733
    Cell Significance Index: -8.6400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0763
    Cell Significance Index: -4.9200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0765
    Cell Significance Index: -4.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0770
    Cell Significance Index: -5.1800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0798
    Cell Significance Index: -6.1200
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: -0.0857
    Cell Significance Index: -1.0200
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.0872
    Cell Significance Index: -0.7900
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0890
    Cell Significance Index: -0.7700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0958
    Cell Significance Index: -3.3300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1030
    Cell Significance Index: -5.3500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1050
    Cell Significance Index: -2.8100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1059
    Cell Significance Index: -7.8900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1127
    Cell Significance Index: -1.2800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1151
    Cell Significance Index: -2.4100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1198
    Cell Significance Index: -5.3000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1242
    Cell Significance Index: -4.3500
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1360
    Cell Significance Index: -1.8800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1371
    Cell Significance Index: -4.4900
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1384
    Cell Significance Index: -2.0100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1390
    Cell Significance Index: -1.9900
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.1406
    Cell Significance Index: -1.7800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1410
    Cell Significance Index: -5.3400
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1459
    Cell Significance Index: -1.4700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1460
    Cell Significance Index: -4.6500
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.1470
    Cell Significance Index: -0.7700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1497
    Cell Significance Index: -1.0100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1565
    Cell Significance Index: -4.6100
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1632
    Cell Significance Index: -3.3200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1638
    Cell Significance Index: -4.0900
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.1654
    Cell Significance Index: -2.0900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1659
    Cell Significance Index: -6.0900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1675
    Cell Significance Index: -4.2800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1740
    Cell Significance Index: -5.1100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1832
    Cell Significance Index: -4.5700
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1861
    Cell Significance Index: -2.5300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1864
    Cell Significance Index: -5.3200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1877
    Cell Significance Index: -5.0300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1989
    Cell Significance Index: -5.2300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2002
    Cell Significance Index: -4.2500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2036
    Cell Significance Index: -1.6600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2041
    Cell Significance Index: -4.9000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2068
    Cell Significance Index: -5.2700

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:** Trichohyalin is a member of the trichohyalin family of proteins, which are known for their involvement in the formation and maintenance of the cornified envelope, a critical component of the skin's outermost layer. TCHH is characterized by its ability to bind calcium ions and participate in the organization of intermediate filaments, which provide structural support to cells. Its expression is widespread, with notable presence in goblet cells of the colon, enterocytes of the small intestine, and neural cells of the brain. **Pathways and Functions:** Trichohyalin's involvement in various cellular processes is mediated through its interactions with other proteins and molecules. Notably, it plays a crucial role in: 1. **Keratinization:** TCHH is essential for the formation and maintenance of the cornified envelope, which is a hallmark of keratinocyte differentiation. 2. **Cytoskeleton organization:** Trichohyalin's ability to bind calcium ions and intermediate filaments is critical for maintaining the structural integrity of cells. 3. **Calcium ion binding:** TCHH's calcium-binding capacity is involved in regulating cellular calcium homeostasis, which is essential for various cellular processes, including muscle contraction and neurotransmission. 4. **Developmental biology:** Trichohyalin's expression in embryonic tissues suggests its role in early developmental processes, including neural tube formation and epithelial differentiation. **Clinical Significance:** Dysregulation of trichohyalin expression has been implicated in various human diseases, including: 1. **Skin disorders:** Abnormal keratinization and cornified envelope formation are hallmarks of skin diseases such as psoriasis and ichthyosis. 2. **Neurological disorders:** Alterations in trichohyalin expression have been linked to neurodegenerative diseases, including Alzheimer's and Parkinson's. 3. **Cancer:** Changes in trichohyalin expression have been observed in various types of cancer, including colorectal and breast cancer. In conclusion, trichohyalin (TCHH) is a multifunctional protein with significant implications for human biology and disease. Further research into the mechanisms of trichohyalin's actions and its role in various diseases will provide valuable insights into the development of novel therapeutic strategies. **References:** * [Insert references to relevant scientific literature] Note: This article is a hypothetical example and not based on actual research. The information provided is a summary of the gene's characteristics and potential functions, but not supported by specific scientific evidence.

Genular Protein ID: 4214729554

Symbol: TRHY_HUMAN

Name: Trichohyalin

UniProtKB Accession Codes:

Q07283 Q5VUI3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 CarbonylDB 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 1 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 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 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 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: 7685034

Title: The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein.

PubMed ID: 7685034

DOI: 10.1016/s0021-9258(19)50322-2

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 7686953

Title: Trichohyalin: a structural protein of hair, tongue, nail, and epidermis.

PubMed ID: 7686953

DOI: 10.1111/1523-1747.ep12362866

PubMed ID: 27866708

Title: Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome.

PubMed ID: 27866708

DOI: 10.1016/j.ajhg.2016.10.004

PubMed ID: 21248752

Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

PubMed ID: 21248752

DOI: 10.1038/nature09639

Sequence Information:

  • Length: 1943
  • Mass: 253925
  • Checksum: 52FA297BD7AE3E53
  • Sequence:
    • MSPLLRSICD ITEIFNQYVS HDCDGAALTK KDLKNLLERE FGAVLRRPHD PKTVDLILEL 
LDLDSNGRVD FNEFLLFIFK VAQACYYALG QATGLDEEKR ARCDGKESLL QDRRQEEDQR 
RFEPRDRQLE EEPGQRRRQK RQEQERELAE GEEQSEKQER LEQRDRQRRD EELWRQRQEW 
QEREERRAEE EQLQSCKGHE TEEFPDEEQL RRRELLELRR KGREEKQQQR RERQDRVFQE 
EEEKEWRKRE TVLRKEEEKL QEEEPQRQRE LQEEEEQLRK LERQELRRER QEEEQQQQRL 
RREQQLRRKQ EEERREQQEE RREQQERREQ QEERREQQLR REQEERREQQ LRREQEEERR 
EQQLRREQEE ERREQQLRRE QQLRREQQLR REQQLRREQQ LRREQQLRRE QQLRREQQLR 
REQQLRREQE EERHEQKHEQ ERREQRLKRE QEERRDWLKR EEETERHEQE RRKQQLKRDQ 
EEERRERWLK LEEEERREQQ ERREQQLRRE QEERREQRLK RQEEEERLQQ RLRSEQQLRR 
EQEERREQLL KREEEKRLEQ ERREQRLKRE QEERRDQLLK REEERRQQRL KREQEERLEQ 
RLKREEVERL EQEERREQRL KREEPEEERR QQLLKSEEQE ERRQQQLRRE QQERREQRLK 
REEEEERLEQ RLKREHEEER REQELAEEEQ EQARERIKSR IPKWQWQLES EADARQSKVY 
SRPRKQEGQR RRQEQEEKRR RRESELQWQE EERAHRQQQE EEQRRDFTWQ WQAEEKSERG 
RQRLSARPPL REQRERQLRA EERQQREQRF LPEEEEKEQR RRQRREREKE LQFLEEEEQL 
QRRERAQQLQ EEEDGLQEDQ ERRRSQEQRR DQKWRWQLEE ERKRRRHTLY AKPALQEQLR 
KEQQLLQEEE EELQREEREK RRRQEQERQY REEEQLQQEE EQLLREEREK RRRQERERQY 
RKDKKLQQKE EQLLGEEPEK RRRQEREKKY REEEELQQEE EQLLREEREK RRRQEWERQY 
RKKDELQQEE EQLLREEREK RRLQERERQY REEEELQQEE EQLLGEERET RRRQELERQY 
RKEEELQQEE EQLLREEPEK RRRQERERQC REEEELQQEE EQLLREEREK RRRQELERQY 
REEEEVQQEE EQLLREEPEK RRRQELERQY REEEELQQEE EQLLREEQEK RRQERERQYR 
EEEELQRQKR KQRYRDEDQR SDLKWQWEPE KENAVRDNKV YCKGRENEQF RQLEDSQLRD 
RQSQQDLQHL LGEQQERDRE QERRRWQQRD RHFPEEEQLE REEQKEAKRR DRKSQEEKQL 
LREEREEKRR RQETDRKFRE EEQLLQEREE QPLRRQERDR KFREEELRHQ EQGRKFLEEE 
QRLRRQERER KFLKEEQQLR CQEREQQLRQ DRDRKFREEE QQLSRQERDR KFREEEQQVR 
RQERERKFLE EEQQLRQERH RKFREEEQLL QEREEQQLHR QERDRKFLEE EQQLRRQERD 
RKFREQELRS QEPERKFLEE EQQLHRQQRQ RKFLQEEQQL RRQERGQQRR QDRDRKFREE 
EQLRQEREEQ QLSRQERDRK FRLEEQKVRR QEQERKFMED EQQLRRQEGQ QQLRQERDRK 
FREDEQLLQE REEQQLHRQE RDRKFLEEEP QLRRQEREQQ LRHDRDRKFR EEEQLLQEGE 
EQQLRRQERD RKFREEEQQL RRQERERKFL QEEQQLRRQE LERKFREEEQ LRQETEQEQL 
RRQERYRKIL EEEQLRPERE EQQLRRQERD RKFREEEQLR QEREEQQLRS QESDRKFREE 
EQLRQEREEQ QLRPQQRDGK YRWEEEQLQL EEQEQRLRQE RDRQYRAEEQ FATQEKSRRE 
EQELWQEEEQ KRRQERERKL REEHIRRQQK EEQRHRQVGE IKSQEGKGHG RLLEPGTHQF 
ASVPVRSSPL YEYIQEQRSQ YRP

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.