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Entry version 164 (08 May 2019)
Sequence version 2 (25 Nov 2008)
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Protein

Trichohyalin

Gene

TCHH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi22 – 331; low affinityPROSITE-ProRule annotationAdd BLAST12
Calcium bindingi62 – 732; high affinityPROSITE-ProRule annotationAdd BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • transition metal ion binding Source: InterPro

GO - Biological processi

  • cornification Source: Reactome
  • intermediate filament organization Source: GO_Central

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processKeratinization
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6809371 Formation of the cornified envelope

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Trichohyalin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TCHH
Synonyms:THH, THL, TRHY
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:11791 TCHH

Online Mendelian Inheritance in Man (OMIM)

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MIMi
190370 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q07283

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Uncombable hair syndrome 3 (UHS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
7062

MalaCards human disease database

More...
MalaCardsi
TCHH
MIMi617252 phenotype

Open Targets

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OpenTargetsi
ENSG00000159450

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36503

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TCHH

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215273930

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001440421 – 1943TrichohyalinAdd BLAST1943

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Substrate of transglutaminase. Some 200 arginines are probably converted to citrullines by peptidylarginine deimidase.

Keywords - PTMi

Citrullination

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q07283

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q07283

MaxQB - The MaxQuant DataBase

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MaxQBi
Q07283

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q07283

PeptideAtlas

More...
PeptideAtlasi
Q07283

PRoteomics IDEntifications database

More...
PRIDEi
Q07283

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58508

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q07283

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q07283

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q07283

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Found in the hard keratinizing tissues such as the inner root sheath (IRS) of hair follicles and medulla, and in the filiform papillae of dorsal tongue epithelium.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed during late differentiation of the epidermis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000159450 Expressed in 69 organ(s), highest expression level in upper arm skin

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q07283 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA028375

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.Curated

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112919, 7 interactors

Protein interaction database and analysis system

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IntActi
Q07283, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000480484

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q07283

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini23 – 48EF-hand 1PROSITE-ProRule annotationAdd BLAST26
Domaini49 – 84EF-hand 2PROSITE-ProRule annotationAdd BLAST36
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati314 – 3261-1; approximateAdd BLAST13
Repeati327 – 3391-2; approximateAdd BLAST13
Repeati340 – 3511-3; approximateAdd BLAST12
Repeati352 – 3641-4Add BLAST13
Repeati365 – 3771-5Add BLAST13
Repeati378 – 3832-16
Repeati384 – 3892-26
Repeati390 – 3952-36
Repeati396 – 4012-46
Repeati402 – 4072-56
Repeati408 – 4132-66
Repeati414 – 4192-76
Repeati420 – 4252-86
Repeati906 – 9354-1Add BLAST30
Repeati936 – 9654-2Add BLAST30
Repeati966 – 9954-3Add BLAST30
Repeati996 – 10254-4Add BLAST30
Repeati1026 – 10554-5Add BLAST30
Repeati1056 – 10854-6Add BLAST30
Repeati1086 – 11154-7Add BLAST30
Repeati1116 – 11454-8Add BLAST30
Repeati1146 – 11754-9Add BLAST30
Repeati1176 – 12044-10Add BLAST29

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 91S-100-likeAdd BLAST91
Regioni314 – 3775 X 13 AA tandem repeats of R-R-E-Q-E-E-E-R-R-E-Q-Q-LAdd BLAST64
Regioni378 – 4258 X 6 AA tandem repeats of R-R-E-Q-Q-LAdd BLAST48
Regioni425 – 6839 X 28 AA approximate tandem repeatsAdd BLAST259
Regioni906 – 120410 X 30 AA tandem repeatsAdd BLAST299
Regioni1292 – 189423 X 26 AA approximate tandem repeatsAdd BLAST603

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Consists of nine domains. Domain 1 contains two EF-hand calcium-binding domains. Domains 2-4, 6, and 8 are almost entirely alpha-helical, configured as a series of peptide repeats of varying regularity, and are thought to form a single-stranded alpha-helical rod stabilized by ionic interactions. Domain 6 is the most regular and may bind KIF directly by ionic interactions. Domains 5 and 7 are less well organized and may induce folds in the molecule. Domain 9 contains the C-terminus, conserved among different species.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the S100-fused protein family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410KDDK Eukaryota
ENOG4111C3S LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000164620

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q07283

KEGG Orthology (KO)

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KOi
K18626

Identification of Orthologs from Complete Genome Data

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OMAi
EQRDGQY

Database of Orthologous Groups

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OrthoDBi
1367189at2759

TreeFam database of animal gene trees

More...
TreeFami
TF344077

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00213 S-100, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR034325 S-100_dom
IPR001751 S100/CaBP-9k_CS
IPR013787 S100_Ca-bd_sub

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01023 S_100, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01394 S_100, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47473 SSF47473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 1 hit
PS00303 S100_CABP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q07283-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSPLLRSICD ITEIFNQYVS HDCDGAALTK KDLKNLLERE FGAVLRRPHD
60 70 80 90 100
PKTVDLILEL LDLDSNGRVD FNEFLLFIFK VAQACYYALG QATGLDEEKR
110 120 130 140 150
ARCDGKESLL QDRRQEEDQR RFEPRDRQLE EEPGQRRRQK RQEQERELAE
160 170 180 190 200
GEEQSEKQER LEQRDRQRRD EELWRQRQEW QEREERRAEE EQLQSCKGHE
210 220 230 240 250
TEEFPDEEQL RRRELLELRR KGREEKQQQR RERQDRVFQE EEEKEWRKRE
260 270 280 290 300
TVLRKEEEKL QEEEPQRQRE LQEEEEQLRK LERQELRRER QEEEQQQQRL
310 320 330 340 350
RREQQLRRKQ EEERREQQEE RREQQERREQ QEERREQQLR REQEERREQQ
360 370 380 390 400
LRREQEEERR EQQLRREQEE ERREQQLRRE QQLRREQQLR REQQLRREQQ
410 420 430 440 450
LRREQQLRRE QQLRREQQLR REQQLRREQE EERHEQKHEQ ERREQRLKRE
460 470 480 490 500
QEERRDWLKR EEETERHEQE RRKQQLKRDQ EEERRERWLK LEEEERREQQ
510 520 530 540 550
ERREQQLRRE QEERREQRLK RQEEEERLQQ RLRSEQQLRR EQEERREQLL
560 570 580 590 600
KREEEKRLEQ ERREQRLKRE QEERRDQLLK REEERRQQRL KREQEERLEQ
610 620 630 640 650
RLKREEVERL EQEERREQRL KREEPEEERR QQLLKSEEQE ERRQQQLRRE
660 670 680 690 700
QQERREQRLK REEEEERLEQ RLKREHEEER REQELAEEEQ EQARERIKSR
710 720 730 740 750
IPKWQWQLES EADARQSKVY SRPRKQEGQR RRQEQEEKRR RRESELQWQE
760 770 780 790 800
EERAHRQQQE EEQRRDFTWQ WQAEEKSERG RQRLSARPPL REQRERQLRA
810 820 830 840 850
EERQQREQRF LPEEEEKEQR RRQRREREKE LQFLEEEEQL QRRERAQQLQ
860 870 880 890 900
EEEDGLQEDQ ERRRSQEQRR DQKWRWQLEE ERKRRRHTLY AKPALQEQLR
910 920 930 940 950
KEQQLLQEEE EELQREEREK RRRQEQERQY REEEQLQQEE EQLLREEREK
960 970 980 990 1000
RRRQERERQY RKDKKLQQKE EQLLGEEPEK RRRQEREKKY REEEELQQEE
1010 1020 1030 1040 1050
EQLLREEREK RRRQEWERQY RKKDELQQEE EQLLREEREK RRLQERERQY
1060 1070 1080 1090 1100
REEEELQQEE EQLLGEERET RRRQELERQY RKEEELQQEE EQLLREEPEK
1110 1120 1130 1140 1150
RRRQERERQC REEEELQQEE EQLLREEREK RRRQELERQY REEEEVQQEE
1160 1170 1180 1190 1200
EQLLREEPEK RRRQELERQY REEEELQQEE EQLLREEQEK RRQERERQYR
1210 1220 1230 1240 1250
EEEELQRQKR KQRYRDEDQR SDLKWQWEPE KENAVRDNKV YCKGRENEQF
1260 1270 1280 1290 1300
RQLEDSQLRD RQSQQDLQHL LGEQQERDRE QERRRWQQRD RHFPEEEQLE
1310 1320 1330 1340 1350
REEQKEAKRR DRKSQEEKQL LREEREEKRR RQETDRKFRE EEQLLQEREE
1360 1370 1380 1390 1400
QPLRRQERDR KFREEELRHQ EQGRKFLEEE QRLRRQERER KFLKEEQQLR
1410 1420 1430 1440 1450
CQEREQQLRQ DRDRKFREEE QQLSRQERDR KFREEEQQVR RQERERKFLE
1460 1470 1480 1490 1500
EEQQLRQERH RKFREEEQLL QEREEQQLHR QERDRKFLEE EQQLRRQERD
1510 1520 1530 1540 1550
RKFREQELRS QEPERKFLEE EQQLHRQQRQ RKFLQEEQQL RRQERGQQRR
1560 1570 1580 1590 1600
QDRDRKFREE EQLRQEREEQ QLSRQERDRK FRLEEQKVRR QEQERKFMED
1610 1620 1630 1640 1650
EQQLRRQEGQ QQLRQERDRK FREDEQLLQE REEQQLHRQE RDRKFLEEEP
1660 1670 1680 1690 1700
QLRRQEREQQ LRHDRDRKFR EEEQLLQEGE EQQLRRQERD RKFREEEQQL
1710 1720 1730 1740 1750
RRQERERKFL QEEQQLRRQE LERKFREEEQ LRQETEQEQL RRQERYRKIL
1760 1770 1780 1790 1800
EEEQLRPERE EQQLRRQERD RKFREEEQLR QEREEQQLRS QESDRKFREE
1810 1820 1830 1840 1850
EQLRQEREEQ QLRPQQRDGK YRWEEEQLQL EEQEQRLRQE RDRQYRAEEQ
1860 1870 1880 1890 1900
FATQEKSRRE EQELWQEEEQ KRRQERERKL REEHIRRQQK EEQRHRQVGE
1910 1920 1930 1940
IKSQEGKGHG RLLEPGTHQF ASVPVRSSPL YEYIQEQRSQ YRP
Length:1,943
Mass (Da):253,925
Last modified:November 25, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i52FA297BD7AE3E53
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA65582 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti115Q → T in AAA65582 (PubMed:7685034).Curated1
Sequence conflicti546R → L in AAA65582 (PubMed:7685034).Curated1
Sequence conflicti617 – 618EQ → DE in AAA65582 (PubMed:7685034).Curated2
Sequence conflicti631 – 632QQ → HE in AAA65582 (PubMed:7685034).Curated2
Sequence conflicti644 – 645QQ → HE in AAA65582 (PubMed:7685034).Curated2
Sequence conflicti821R → G in AAA65582 (PubMed:7685034).Curated1
Sequence conflicti865Missing in AAA65582 (PubMed:7685034).Curated1
Sequence conflicti1289 – 1290RD → AN in AAA65582 (PubMed:7685034).Curated2
Sequence conflicti1354R → L in AAA65582 (PubMed:7685034).Curated1
Sequence conflicti1368R → L in AAA65582 (PubMed:7685034).Curated1
Sequence conflicti1385 – 1386RQ → E in AAA65582 (PubMed:7685034).Curated2
Sequence conflicti1401 – 1402CQ → LE in AAA65582 (PubMed:7685034).Curated2
Sequence conflicti1406Missing in AAA65582 (PubMed:7685034).Curated1
Sequence conflicti1617Missing in AAA65582 (PubMed:7685034).Curated1
Sequence conflicti1782E → G in AAA65582 (PubMed:7685034).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04751963L → R1 PublicationCorresponds to variant dbSNP:rs2515663Ensembl.1
Natural variantiVAR_047520237V → L. Corresponds to variant dbSNP:rs3134814Ensembl.1
Natural variantiVAR_047521552R → S. Corresponds to variant dbSNP:rs6680692Ensembl.1
Natural variantiVAR_047522790L → M. Corresponds to variant dbSNP:rs11803731Ensembl.1
Natural variantiVAR_0475231258L → V1 PublicationCorresponds to variant dbSNP:rs2496253Ensembl.1
Natural variantiVAR_0647571400R → P Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0475241902K → Q1 PublicationCorresponds to variant dbSNP:rs1131471Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L09190 Genomic DNA Translation: AAA65582.1 Sequence problems.
AL589986 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41396.1

Protein sequence database of the Protein Information Resource

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PIRi
A45973

NCBI Reference Sequences

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RefSeqi
NP_009044.2, NM_007113.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000368804; ENSP00000357794; ENSG00000159450
ENST00000614923; ENSP00000480484; ENSG00000159450

Database of genes from NCBI RefSeq genomes

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GeneIDi
7062

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7062

UCSC genome browser

More...
UCSCi
uc001ezp.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L09190 Genomic DNA Translation: AAA65582.1 Sequence problems.
AL589986 Genomic DNA No translation available.
CCDSiCCDS41396.1
PIRiA45973
RefSeqiNP_009044.2, NM_007113.3

3D structure databases

SMRiQ07283
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112919, 7 interactors
IntActiQ07283, 2 interactors
STRINGi9606.ENSP00000480484

PTM databases

CarbonylDBiQ07283
iPTMnetiQ07283
PhosphoSitePlusiQ07283

Polymorphism and mutation databases

BioMutaiTCHH
DMDMi215273930

Proteomic databases

EPDiQ07283
jPOSTiQ07283
MaxQBiQ07283
PaxDbiQ07283
PeptideAtlasiQ07283
PRIDEiQ07283
ProteomicsDBi58508

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368804; ENSP00000357794; ENSG00000159450
ENST00000614923; ENSP00000480484; ENSG00000159450
GeneIDi7062
KEGGihsa:7062
UCSCiuc001ezp.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7062
DisGeNETi7062

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TCHH
HGNCiHGNC:11791 TCHH
HPAiHPA028375
MalaCardsiTCHH
MIMi190370 gene
617252 phenotype
neXtProtiNX_Q07283
OpenTargetsiENSG00000159450
PharmGKBiPA36503

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410KDDK Eukaryota
ENOG4111C3S LUCA
GeneTreeiENSGT00940000164620
InParanoidiQ07283
KOiK18626
OMAiEQRDGQY
OrthoDBi1367189at2759
TreeFamiTF344077

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TCHH

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
7062

Protein Ontology

More...
PROi
PR:Q07283

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000159450 Expressed in 69 organ(s), highest expression level in upper arm skin
GenevisibleiQ07283 HS

Family and domain databases

CDDicd00213 S-100, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR034325 S-100_dom
IPR001751 S100/CaBP-9k_CS
IPR013787 S100_Ca-bd_sub
PfamiView protein in Pfam
PF01023 S_100, 1 hit
SMARTiView protein in SMART
SM01394 S_100, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 1 hit
PS00303 S100_CABP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTRHY_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q07283
Secondary accession number(s): Q5VUI3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: November 25, 2008
Last modified: May 8, 2019
This is version 164 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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