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Entry version 109 (16 Oct 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Protein C8orf37

Gene

C8orf37

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

May be involved in photoreceptor outer segment disk morphogenesis (By similarity).By similarity

<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>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:
Protein C8orf37
<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:C8orf37
Synonyms:smalltalk
<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 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:27232 C8orf37

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614477 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96NL8

<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

Cytoplasm

<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

Cone-rod dystrophy 16 (CORD16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Related information in OMIM
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_067305177R → W in CORD16 and BBS21. 2 PublicationsCorresponds to variant dbSNP:rs387907136EnsemblClinVar.1
Retinitis pigmentosa 64 (RP64)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067306182Q → R in RP64. 1 PublicationCorresponds to variant dbSNP:rs387907137EnsemblClinVar.1
Bardet-Biedl syndrome 21 (BBS21)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067305177R → W in CORD16 and BBS21. 2 PublicationsCorresponds to variant dbSNP:rs387907136EnsemblClinVar.1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Cone-rod dystrophy, Disease mutation, Obesity, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
157657

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
C8orf37

MalaCards human disease database

More...
MalaCardsi
C8orf37
MIMi614500 phenotype
617406 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000156172

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

More...
Orphaneti
110 Bardet-Biedl syndrome
1872 Cone rod dystrophy
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672356

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96NL8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C8orf37

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74732592

<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_00002710581 – 207Protein C8orf37Add BLAST207

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96NL8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96NL8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96NL8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96NL8

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

More...
PaxDbi
Q96NL8

PeptideAtlas

More...
PeptideAtlasi
Q96NL8

PRoteomics IDEntifications database

More...
PRIDEi
Q96NL8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77536

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96NL8

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

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PhosphoSitePlusi
Q96NL8

<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

Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000156172 Expressed in 162 organ(s), highest expression level in oviduct epithelium

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96NL8 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA024198

<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%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
CAPNS1P046322EBI-11904873,EBI-711828

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127610, 5 interactors

Protein interaction database and analysis system

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IntActi
Q96NL8, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000286688

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IVWJ Eukaryota
ENOG4112BQE LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000006173

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000006595

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96NL8

Identification of Orthologs from Complete Genome Data

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OMAi
HTSQRAC

Database of Orthologous Groups

More...
OrthoDBi
1589583at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96NL8

TreeFam database of animal gene trees

More...
TreeFami
TF328851

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029239 C8orf37

The PANTHER Classification System

More...
PANTHERi
PTHR33958 PTHR33958, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14996 RMP, 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.

Q96NL8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEDLDELLD EVESKFCTPD LLRRGMVEQP KGCGGGTHSS DRNQAKAKET
60 70 80 90 100
LRSTETFKKE DDLDSLINEI LEEPNLDKKP SKLKSKSSGN TSVRASIEGL
110 120 130 140 150
GKSCSPVYLG GSSIPCGIGT NISWRACDHL RCIACDFLVV SYDDYMWDKS
160 170 180 190 200
CDYLFFRNNM PEFHKLKAKL IKKKGTRAYA CQCSWRTIEE VTDLQTDHQL

RWVCGKH
Length:207
Mass (Da):23,381
Last modified:December 1, 2001 - 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:i86B438BB7093C7A5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03368319P → A. Corresponds to variant dbSNP:rs36096184EnsemblClinVar.1
Natural variantiVAR_067305177R → W in CORD16 and BBS21. 2 PublicationsCorresponds to variant dbSNP:rs387907136EnsemblClinVar.1
Natural variantiVAR_067306182Q → R in RP64. 1 PublicationCorresponds to variant dbSNP:rs387907137EnsemblClinVar.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
AK055162 mRNA Translation: BAB70866.1
GQ240139 mRNA Translation: ADE62519.1
AP003466 Genomic DNA No translation available.
AC024995 Genomic DNA No translation available.
CH471060 Genomic DNA Translation: EAW91744.1
CH471060 Genomic DNA Translation: EAW91745.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6268.1

NCBI Reference Sequences

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RefSeqi
NP_808880.1, NM_177965.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000286688; ENSP00000286688; ENSG00000156172

Database of genes from NCBI RefSeq genomes

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GeneIDi
157657

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:157657

UCSC genome browser

More...
UCSCi
uc003yho.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
AK055162 mRNA Translation: BAB70866.1
GQ240139 mRNA Translation: ADE62519.1
AP003466 Genomic DNA No translation available.
AC024995 Genomic DNA No translation available.
CH471060 Genomic DNA Translation: EAW91744.1
CH471060 Genomic DNA Translation: EAW91745.1
CCDSiCCDS6268.1
RefSeqiNP_808880.1, NM_177965.3

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi127610, 5 interactors
IntActiQ96NL8, 2 interactors
STRINGi9606.ENSP00000286688

PTM databases

iPTMnetiQ96NL8
PhosphoSitePlusiQ96NL8

Polymorphism and mutation databases

BioMutaiC8orf37
DMDMi74732592

Proteomic databases

EPDiQ96NL8
jPOSTiQ96NL8
MassIVEiQ96NL8
MaxQBiQ96NL8
PaxDbiQ96NL8
PeptideAtlasiQ96NL8
PRIDEiQ96NL8
ProteomicsDBi77536

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
157657

Genome annotation databases

EnsembliENST00000286688; ENSP00000286688; ENSG00000156172
GeneIDi157657
KEGGihsa:157657
UCSCiuc003yho.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
157657
DisGeNETi157657

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C8orf37
GeneReviewsiC8orf37
HGNCiHGNC:27232 C8orf37
HPAiHPA024198
MalaCardsiC8orf37
MIMi614477 gene
614500 phenotype
617406 phenotype
neXtProtiNX_Q96NL8
OpenTargetsiENSG00000156172
Orphaneti110 Bardet-Biedl syndrome
1872 Cone rod dystrophy
791 Retinitis pigmentosa
PharmGKBiPA142672356

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IVWJ Eukaryota
ENOG4112BQE LUCA
GeneTreeiENSGT00390000006173
HOGENOMiHOG000006595
InParanoidiQ96NL8
OMAiHTSQRAC
OrthoDBi1589583at2759
PhylomeDBiQ96NL8
TreeFamiTF328851

Miscellaneous databases

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

More...
GenomeRNAii
157657
PharosiQ96NL8

Protein Ontology

More...
PROi
PR:Q96NL8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000156172 Expressed in 162 organ(s), highest expression level in oviduct epithelium
GenevisibleiQ96NL8 HS

Family and domain databases

InterProiView protein in InterPro
IPR029239 C8orf37
PANTHERiPTHR33958 PTHR33958, 1 hit
PfamiView protein in Pfam
PF14996 RMP, 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 nameiCH037_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: Q96NL8
Secondary accession number(s): F4Y588
<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: January 9, 2007
Last sequence update: December 1, 2001
Last modified: October 16, 2019
This is version 109 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

Complete proteome, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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