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Entry version 164 (08 May 2019)
Sequence version 3 (18 May 2010)
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Protein

Corneodesmosin

Gene

CDSN

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

Important for the epidermal barrier integrity.1 Publication

<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

  • protein homodimerization activity Source: MGI

GO - Biological processi

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:
Corneodesmosin
Alternative name(s):
S protein
<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:CDSN
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1802 CDSN

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602593 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15517

<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>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>Keywords - Cellular componenti

Secreted

<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

Hypotrichosis 2 (HYPT2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally.
Related information in OMIM
Peeling skin syndrome 1 (PSS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B (PubMed:20691404).1 Publication
Disease descriptionA genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels.
Related information in OMIM

Keywords - Diseasei

Hypotrichosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
1041

MalaCards human disease database

More...
MalaCardsi
CDSN
MIMi146520 phenotype
270300 phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90368 Hypotrichosis simplex of the scalp
263553 Peeling skin syndrome type B

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26348

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CDSN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439412

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 32Sequence analysisAdd BLAST32
<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_000002091233 – 529CorneodesmosinAdd BLAST497

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi172N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q15517

MaxQB - The MaxQuant DataBase

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MaxQBi
Q15517

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

More...
PaxDbi
Q15517

PeptideAtlas

More...
PeptideAtlasi
Q15517

PRoteomics IDEntifications database

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PRIDEi
Q15517

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60615

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15517

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

More...
PhosphoSitePlusi
Q15517

<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

Exclusively expressed in skin.

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044730
HPA054184

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107472, 23 interactors

Protein interaction database and analysis system

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IntActi
Q15517, 7 interactors

Molecular INTeraction database

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MINTi
Q15517

STRING: functional protein association networks

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STRINGi
9606.ENSP00000365465

<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

Database of protein disorder

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DisProti
DP00706

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

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SMRi
Q15517

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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi62 – 464Ser-richAdd BLAST403

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IENZ Eukaryota
ENOG41118PZ LUCA

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15517

Database of Orthologous Groups

More...
OrthoDBi
1337671at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15517

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026087 Corneodesmosin

The PANTHER Classification System

More...
PANTHERi
PTHR23207 PTHR23207, 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>Sequence (1+)i

<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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q15517-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGSSRAPWMG RVGGHGMMAL LLAGLLLPGT LAKSIGTFSD PCKDPTRITS
60 70 80 90 100
PNDPCLTGKG DSSGFSSYSG SSSSGSSISS ARSSGGGSSG SSSGSSIAQG
110 120 130 140 150
GSAGSFKPGT GYSQVSYSSG SGSSLQGASG SSQLGSSSSH SGNSGSHSGS
160 170 180 190 200
SSSHSSSSSS FQFSSSSFQV GNGSALPTND NSYRGILNPS QPGQSSSSSQ
210 220 230 240 250
TSGVSSSGQS VSSNQRPCSS DIPDSPCSGG PIVSHSGPYI PSSHSVSGGQ
260 270 280 290 300
RPVVVVVDQH GSGAPGVVQG PPCSNGGLPG KPCPPITSVD KSYGGYEVVG
310 320 330 340 350
GSSDSYLVPG MTYSKGKIYP VGYFTKENPV KGSPGVPSFA AGPPISEGKY
360 370 380 390 400
FSSNPIIPSQ SAASSAIAFQ PVGTGGVQLC GGGSTGSKGP CSPSSSRVPS
410 420 430 440 450
SSSISSSSGS PYHPCGSASQ SPCSPPGTGS FSSSSSSQSS GKIILQPCGS
460 470 480 490 500
KSSSSGHPCM SVSSLTLTGG PDGSPHPDPS AGAKPCGSSS AGKIPCRSIR
510 520
DILAQVKPLG PQLADPEVFL PQGELLDSP
Length:529
Mass (Da):51,522
Last modified:May 18, 2010 - v3
<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:iA040133CB0825C76
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G8JLG2G8JLG2_HUMAN
CDSN
CDSN
529Annotation score:

Annotation score:1 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>
Q2L6G8Q2L6G8_HUMAN
CDSN
CDSN
529Annotation score:

Annotation score:1 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>

<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 AAA21321 differs from that shown. Reason: Frameshift at position 501.Curated
The sequence BAB63316 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC54948 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti406S → G in AAH31993 (PubMed:15489334).Curated1
Sequence conflicti453S → N in AAN70995 (PubMed:12366786).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIMi:177900] (PubMed:10599883, PubMed:12472658,PubMed:10844560). Various CDSN alleles are known including alleles 1.11, 1.21, 1.31, 1.32, 1.41, 1.42, 1.43, 1.51, 1.52, 2.11, 2.21, 2.22 and 2.23 (PubMed:11169256).4 Publications

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_02261518M → L4 PublicationsCorresponds to variant dbSNP:rs3095318Ensembl.1
Natural variantiVAR_02263756L → F in allele 1.31 and allele 1.32. 1 PublicationCorresponds to variant dbSNP:rs7742033Ensembl.1
Natural variantiVAR_022616143N → S10 PublicationsCorresponds to variant dbSNP:rs3130984Ensembl.1
Natural variantiVAR_022638143Missing in allele 2.11. 1 Publication1
Natural variantiVAR_046010145G → S. Corresponds to variant dbSNP:rs6457328Ensembl.1
Natural variantiVAR_022639150S → N in allele 2.21, allele 2.22 and allele 2.23. 1 Publication1
Natural variantiVAR_022617153Missing 3 Publications1
Natural variantiVAR_022618202S → F in allele 1.11, allele 1.21, allele 1.31, allele 1.32, allele 1.51, allele 1.52, allele 2.11, allele 2.21, allele 2.22 and allele 2.23. 8 PublicationsCorresponds to variant dbSNP:rs707913Ensembl.1
Natural variantiVAR_022640253Missing in allele 1.32. 1
Natural variantiVAR_022641401S → G in allele 1.21. 3 PublicationsCorresponds to variant dbSNP:rs33941312Ensembl.1
Natural variantiVAR_022619408S → A in allele 1.51. 5 PublicationsCorresponds to variant dbSNP:rs1042127Ensembl.1
Natural variantiVAR_022620410S → L in allele 2.11, allele 2.21, allele 2.22 and allele 2.23. 7 PublicationsCorresponds to variant dbSNP:rs3132554Ensembl.1
Natural variantiVAR_022621527D → N in allele 2.21, allele 2.22 and allele 2.23. 3 PublicationsCorresponds to variant dbSNP:rs3130981Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L20815 mRNA Translation: AAA21321.1 Sequence problems.
AF030130 mRNA Translation: AAC24196.1
AF491328, AF491327 Genomic DNA Translation: AAN70995.1
AF491330, AF491329 Genomic DNA Translation: AAN70996.1
AF491326, AF491325 Genomic DNA Translation: AAN70994.1
AL662844 Genomic DNA No translation available.
AL662867 Genomic DNA No translation available.
AL773544 Genomic DNA No translation available.
BX927139 Genomic DNA No translation available.
CR759805 Genomic DNA No translation available.
CR753819 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03358.1
BA000025 Genomic DNA Translation: BAB63316.1 Different initiation.
AB088114 Genomic DNA Translation: BAC54948.1 Different initiation.
BC031993 mRNA Translation: AAH31993.1
AF224747 Genomic DNA Translation: AAF78559.1
AF224748 Genomic DNA Translation: AAF78560.1
AF224749 Genomic DNA Translation: AAF78561.1
AF224750 Genomic DNA Translation: AAF78562.1
AF224751 Genomic DNA Translation: AAF78563.1
AF224752 Genomic DNA Translation: AAF78564.1
AF224753 Genomic DNA Translation: AAF78565.1
AF224754 Genomic DNA Translation: AAF78566.1
AF224755 Genomic DNA Translation: AAF78567.1
AF224756 Genomic DNA Translation: AAF78568.1
AF224757 Genomic DNA Translation: AAF78569.1
AF224758 Genomic DNA Translation: AAF78570.1
AF286165 Genomic DNA Translation: AAG02419.1
AJ238461 Genomic DNA Translation: CAB57266.1
AJ238462 Genomic DNA Translation: CAB57267.1
AJ238463 Genomic DNA Translation: CAB57268.1
AJ238464 Genomic DNA Translation: CAB57269.1
AJ238465 Genomic DNA Translation: CAB57270.1
AJ238466 Genomic DNA Translation: CAB57271.1
AJ238467 Genomic DNA Translation: CAB57272.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34389.1

Protein sequence database of the Protein Information Resource

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PIRi
A48679

NCBI Reference Sequences

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RefSeqi
NP_001255.3, NM_001264.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000259726; ENSP00000259726; ENSG00000137197
ENST00000418599; ENSP00000392863; ENSG00000237123
ENST00000445893; ENSP00000388386; ENSG00000237114
ENST00000457875; ENSP00000399604; ENSG00000237165

Database of genes from NCBI RefSeq genomes

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GeneIDi
1041

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1041

UCSC genome browser

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UCSCi
uc011fbm.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
L20815 mRNA Translation: AAA21321.1 Sequence problems.
AF030130 mRNA Translation: AAC24196.1
AF491328, AF491327 Genomic DNA Translation: AAN70995.1
AF491330, AF491329 Genomic DNA Translation: AAN70996.1
AF491326, AF491325 Genomic DNA Translation: AAN70994.1
AL662844 Genomic DNA No translation available.
AL662867 Genomic DNA No translation available.
AL773544 Genomic DNA No translation available.
BX927139 Genomic DNA No translation available.
CR759805 Genomic DNA No translation available.
CR753819 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03358.1
BA000025 Genomic DNA Translation: BAB63316.1 Different initiation.
AB088114 Genomic DNA Translation: BAC54948.1 Different initiation.
BC031993 mRNA Translation: AAH31993.1
AF224747 Genomic DNA Translation: AAF78559.1
AF224748 Genomic DNA Translation: AAF78560.1
AF224749 Genomic DNA Translation: AAF78561.1
AF224750 Genomic DNA Translation: AAF78562.1
AF224751 Genomic DNA Translation: AAF78563.1
AF224752 Genomic DNA Translation: AAF78564.1
AF224753 Genomic DNA Translation: AAF78565.1
AF224754 Genomic DNA Translation: AAF78566.1
AF224755 Genomic DNA Translation: AAF78567.1
AF224756 Genomic DNA Translation: AAF78568.1
AF224757 Genomic DNA Translation: AAF78569.1
AF224758 Genomic DNA Translation: AAF78570.1
AF286165 Genomic DNA Translation: AAG02419.1
AJ238461 Genomic DNA Translation: CAB57266.1
AJ238462 Genomic DNA Translation: CAB57267.1
AJ238463 Genomic DNA Translation: CAB57268.1
AJ238464 Genomic DNA Translation: CAB57269.1
AJ238465 Genomic DNA Translation: CAB57270.1
AJ238466 Genomic DNA Translation: CAB57271.1
AJ238467 Genomic DNA Translation: CAB57272.1
CCDSiCCDS34389.1
PIRiA48679
RefSeqiNP_001255.3, NM_001264.4

3D structure databases

DisProtiDP00706
SMRiQ15517
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107472, 23 interactors
IntActiQ15517, 7 interactors
MINTiQ15517
STRINGi9606.ENSP00000365465

PTM databases

iPTMnetiQ15517
PhosphoSitePlusiQ15517

Polymorphism and mutation databases

BioMutaiCDSN
DMDMi296439412

Proteomic databases

jPOSTiQ15517
MaxQBiQ15517
PaxDbiQ15517
PeptideAtlasiQ15517
PRIDEiQ15517
ProteomicsDBi60615

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
1041
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259726; ENSP00000259726; ENSG00000137197
ENST00000418599; ENSP00000392863; ENSG00000237123
ENST00000445893; ENSP00000388386; ENSG00000237114
ENST00000457875; ENSP00000399604; ENSG00000237165
GeneIDi1041
KEGGihsa:1041
UCSCiuc011fbm.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1041
DisGeNETi1041

GeneCards: human genes, protein and diseases

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GeneCardsi
CDSN
HGNCiHGNC:1802 CDSN
HPAiHPA044730
HPA054184
MalaCardsiCDSN
MIMi146520 phenotype
270300 phenotype
602593 gene
neXtProtiNX_Q15517
Orphaneti90368 Hypotrichosis simplex of the scalp
263553 Peeling skin syndrome type B
PharmGKBiPA26348

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IENZ Eukaryota
ENOG41118PZ LUCA
InParanoidiQ15517
OrthoDBi1337671at2759
PhylomeDBiQ15517

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

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GeneWikii
Corneodesmosin

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

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GenomeRNAii
1041

Protein Ontology

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PROi
PR:Q15517

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Family and domain databases

InterProiView protein in InterPro
IPR026087 Corneodesmosin
PANTHERiPTHR23207 PTHR23207, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiCDSN_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: Q15517
Secondary accession number(s): B0S7V2
, B0UYZ7, O43509, Q5SQ85, Q5STD2, Q7LA70, Q7LA71, Q86Z04, Q8IZU4, Q8IZU5, Q8IZU6, Q8N5P3, Q95IF9, Q9NP52, Q9NPE0, Q9NPG5, Q9NRH4, Q9NRH5, Q9NRH6, Q9NRH7, Q9NRH8, Q9UBH8, Q9UIN6, Q9UIN7, Q9UIN8, Q9UIN9, Q9UIP0
<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: July 15, 1998
Last sequence update: May 18, 2010
Last modified: May 8, 2019
This is version 164 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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