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Entry version 90 (17 Jun 2020)
Sequence version 1 (21 Dec 2004)
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Protein

Late cornified envelope protein 5A

Gene

LCE5A

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

Precursors of the cornified envelope of the stratum corneum.

Miscellaneous

Belongs to the LCE cluster present on 1q21.

<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 - Biological processi

<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

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%5Fand%5Ftaxonomy%5Fsection">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:
Late cornified envelope protein 5A
Alternative name(s):
Late envelope protein 18
Small proline-rich-like epidermal differentiation complex protein 5A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:LCE5A
Synonyms:LEP18, SPRL5A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000186207.4

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16614 LCE5A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612619 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5TCM9

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
254910

Open Targets

More...
OpenTargetsi
ENSG00000186207

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38173

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5TCM9 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LCE5A

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002353391 – 118Late cornified envelope protein 5AAdd BLAST118

Proteomic databases

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

More...
PaxDbi
Q5TCM9

PeptideAtlas

More...
PeptideAtlasi
Q5TCM9

PRoteomics IDEntifications database

More...
PRIDEi
Q5TCM9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
64969

<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

Skin-specific. Expression was readily detected in adult trunk skin, adult arm skin, fetal skin, penal skin, vulva, esophagus and tongue. Not expressed in the cervix, rectum, lung, colon, or placenta. Expression is observed in the heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000186207 Expressed in skin of leg and 43 other tissues

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000186207 Tissue enriched (skin)

<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%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q5TCM9
With#Exp.IntAct
ADAM12 - isoform 4 [O43184-4]3EBI-11955689,EBI-12006944
ALPP [P05187]3EBI-11955689,EBI-1211484
CHIC2 [Q9UKJ5]3EBI-11955689,EBI-741528
CHRD [Q9H2X0]3EBI-11955689,EBI-947551
CREB5 - isoform 3 [Q02930-3]3EBI-11955689,EBI-10192698
CYP21A2 [Q08AG9]3EBI-11955689,EBI-14156412
CYSRT1 [A8MQ03]6EBI-11955689,EBI-3867333
FBLN1 - isoform C [P23142-4]3EBI-11955689,EBI-11956479
HOXA1 [P49639]8EBI-11955689,EBI-740785
KRTAP1-1 [Q07627]3EBI-11955689,EBI-11959885
KRTAP1-5 [Q9BYS1]3EBI-11955689,EBI-11741292
KRTAP10-5 [P60370]3EBI-11955689,EBI-10172150
KRTAP10-7 [P60409]3EBI-11955689,EBI-10172290
KRTAP10-8 [P60410]5EBI-11955689,EBI-10171774
KRTAP10-9 [P60411]4EBI-11955689,EBI-10172052
KRTAP12-3 [P60328]3EBI-11955689,EBI-11953334
KRTAP12-4 [P60329]3EBI-11955689,EBI-10176396
KRTAP21-2 [Q3LI59]3EBI-11955689,EBI-18395721
KRTAP3-1 [Q9BYR8]3EBI-11955689,EBI-9996449
KRTAP4-1 [A0A087WY89]3EBI-11955689,EBI-11957260
KRTAP4-11 [Q9BYQ6]6EBI-11955689,EBI-10302392
KRTAP4-12 [Q9BQ66]9EBI-11955689,EBI-739863
KRTAP4-2 [Q9BYR5]3EBI-11955689,EBI-10172511
KRTAP4-4 [Q9BYR3]6EBI-11955689,EBI-11958132
KRTAP4-5 [Q9BYR2]3EBI-11955689,EBI-11993254
KRTAP5-11 [Q6L8G4]3EBI-11955689,EBI-11993296
KRTAP5-2 [Q701N4]5EBI-11955689,EBI-11958178
KRTAP5-3 [Q6L8H2]4EBI-11955689,EBI-11974251
KRTAP5-4 [Q6L8H1]4EBI-11955689,EBI-11963072
KRTAP5-6 [Q6L8G9]5EBI-11955689,EBI-10250562
KRTAP5-9 [P26371]6EBI-11955689,EBI-3958099
KRTAP6-2 [Q3LI66]3EBI-11955689,EBI-11962084
KRTAP9-2 [Q9BYQ4]8EBI-11955689,EBI-1044640
KRTAP9-3 [Q9BYQ3]6EBI-11955689,EBI-1043191
LCE1A [Q5T7P2]3EBI-11955689,EBI-11962058
LCE1B [Q5T7P3]3EBI-11955689,EBI-10245913
LCE1C [Q5T751]3EBI-11955689,EBI-12224199
LCE1E [Q5T753]3EBI-11955689,EBI-11955335
LCE1F [Q5T754]3EBI-11955689,EBI-11958008
LCE2B [O14633]3EBI-11955689,EBI-11478468
LCE2C [Q5TA81]6EBI-11955689,EBI-11973993
LCE4A [Q5TA78]3EBI-11955689,EBI-10246358
itself4EBI-11955689,EBI-11955689
NECTIN2 - isoform Alpha [Q92692-2]3EBI-11955689,EBI-6979889
NOTCH2NLC [P0DPK4]3EBI-11955689,EBI-22310682
NUTF2 [P61970]3EBI-11955689,EBI-591778
PLSCR2 [Q9NRY7]3EBI-11955689,EBI-3937430
PLSCR3 [Q9NRY6]6EBI-11955689,EBI-750734
PLSCR4 [Q9NRQ2]3EBI-11955689,EBI-769257
POU4F2 [Q12837]3EBI-11955689,EBI-17236143
RGS17 [Q9UGC6]5EBI-11955689,EBI-3918154
RGS20 - isoform 5 [O76081-6]3EBI-11955689,EBI-10178530
RNF4 [P78317]3EBI-11955689,EBI-2340927
SLC39A7 [Q92504]3EBI-11955689,EBI-1051105
SMCP [P49901]3EBI-11955689,EBI-750494
SPRED2 [Q7Z698]3EBI-11955689,EBI-7082156
SPRY1 [O43609]3EBI-11955689,EBI-3866665
TRIM42 [Q8IWZ5]5EBI-11955689,EBI-5235829
UBE2I [Q7KZS0]3EBI-11955689,EBI-10180829
VWC2L [B2RUY7]3EBI-11955689,EBI-11747707
WDYHV1 [Q96HA8]3EBI-11955689,EBI-741158
ZNF655 [Q8N720]3EBI-11955689,EBI-625509
Q96EJ43EBI-11955689,EBI-750454

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
129059, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q5TCM9, 62 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000333952

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5TCM9 protein

<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 biasi3 – 118Cys-richAdd BLAST116

<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 LCE family.Curated

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161842

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_152038_0_0_1

Identification of Orthologs from Complete Genome Data

More...
OMAi
CCGSEYS

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR028205 LCE
IPR026075 SPRR/LCE

The PANTHER Classification System

More...
PANTHERi
PTHR23263 PTHR23263, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14672 LCE, 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

Q5TCM9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSCQQSQQQC QPPPKCTPKC PPKCTPKCPP KCPPKCPPQC SAPCPPPVSS
60 70 80 90 100
CCGSSSGGCC SSEGGGCCLS HHRPRQSLRR RPQSSSCCGS GSGQQSGGSS
110
CCHSSGGSGC CHSSGGCC
Length:118
Mass (Da):11,795
Last modified:December 21, 2004 - v1
<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:iFF37329A50FFB4E7
GO

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_05348740C → Y. Corresponds to variant dbSNP:rs2105117Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AL135842 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1011.1

NCBI Reference Sequences

More...
RefSeqi
NP_848525.1, NM_178438.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000334269; ENSP00000333952; ENSG00000186207

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
254910

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:254910

UCSC genome browser

More...
UCSCi
uc001ezy.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
AL135842 Genomic DNA No translation available.
CCDSiCCDS1011.1
RefSeqiNP_848525.1, NM_178438.4

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi129059, 1 interactor
IntActiQ5TCM9, 62 interactors
STRINGi9606.ENSP00000333952

Polymorphism and mutation databases

BioMutaiLCE5A

Proteomic databases

PaxDbiQ5TCM9
PeptideAtlasiQ5TCM9
PRIDEiQ5TCM9
ProteomicsDBi64969

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
254910

Genome annotation databases

EnsembliENST00000334269; ENSP00000333952; ENSG00000186207
GeneIDi254910
KEGGihsa:254910
UCSCiuc001ezy.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
254910
DisGeNETi254910
EuPathDBiHostDB:ENSG00000186207.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LCE5A
HGNCiHGNC:16614 LCE5A
HPAiENSG00000186207 Tissue enriched (skin)
MIMi612619 gene
neXtProtiNX_Q5TCM9
OpenTargetsiENSG00000186207
PharmGKBiPA38173

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000161842
HOGENOMiCLU_152038_0_0_1
OMAiCCGSEYS

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
254910 100 hits in 779 CRISPR screens

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

More...
GenomeRNAii
254910
PharosiQ5TCM9 Tdark

Protein Ontology

More...
PROi
PR:Q5TCM9
RNActiQ5TCM9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000186207 Expressed in skin of leg and 43 other tissues

Family and domain databases

InterProiView protein in InterPro
IPR028205 LCE
IPR026075 SPRR/LCE
PANTHERiPTHR23263 PTHR23263, 1 hit
PfamiView protein in Pfam
PF14672 LCE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiLCE5A_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: Q5TCM9
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: December 21, 2004
Last modified: June 17, 2020
This is version 90 of the entry and version 1 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

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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