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Entry version 141 (08 May 2019)
Sequence version 3 (17 Oct 2006)
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Protein

Intraflagellar transport protein 52 homolog

Gene

IFT52

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

Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190).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

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 processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

<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:
Intraflagellar transport protein 52 homolog
Alternative name(s):
Protein NGD5 homolog
<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:IFT52
Synonyms:C20orf9, NGD5
ORF Names:CGI-53
<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 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15901 IFT52

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617094 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y366

<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

Keywords - Cellular componenti

Cell projection, Cilium

<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

Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
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_077805199A → T in SRTD16. 1 PublicationCorresponds to variant dbSNP:rs886037869EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
51098

MalaCards human disease database

More...
MalaCardsi
IFT52
MIMi617102 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000101052

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

More...
Orphaneti
1515 Cranioectodermal dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25796

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IFT52

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242524

<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_00000841671 – 437Intraflagellar transport protein 52 homologAdd BLAST437

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y366

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y366

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9Y366

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

More...
PaxDbi
Q9Y366

PeptideAtlas

More...
PeptideAtlasi
Q9Y366

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y366

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85977

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y366

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

More...
PhosphoSitePlusi
Q9Y366

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000101052 Expressed in 203 organ(s), highest expression level in testis

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y366 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA063367
HPA067423

<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

Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88.

Interacts with IFT88 (By similarity).

Interacts with TTC25 (PubMed:25860617).

By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119287, 28 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9Y366

Protein interaction database and analysis system

More...
IntActi
Q9Y366, 16 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000362121

<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

More...
SMRi
Q9Y366

Database of comparative protein structure models

More...
ModBasei
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 biasi348 – 351Poly-Pro4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3861 Eukaryota
ENOG410XPGR LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000011581

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y366

KEGG Orthology (KO)

More...
KOi
K19681

Identification of Orthologs from Complete Genome Data

More...
OMAi
LGSGYIW

Database of Orthologous Groups

More...
OrthoDBi
925838at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y366

TreeFam database of animal gene trees

More...
TreeFami
TF105916

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019196 ABC_transp_unknown
IPR039975 IFT52

The PANTHER Classification System

More...
PANTHERi
PTHR12969 PTHR12969, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09822 ABC_transp_aux, 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.

Q9Y366-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEKELRSTIL FNAYKKEIFT TNNGYKSMQK KLRSNWKIQS LKDEITSEKL
60 70 80 90 100
NGVKLWITAG PREKFTAAEF EILKKYLDTG GDVFVMLGEG GESRFDTNIN
110 120 130 140 150
FLLEEYGIMV NNDAVVRNVY HKYFHPKEAL VSSGVLNREI SRAAGKAVPG
160 170 180 190 200
IIDEESSGNN AQALTFVYPF GATLSVMKPA VAVLSTGSVC FPLNRPILAF
210 220 230 240 250
YHSKNQGGKL AVLGSCHMFS DQYLDKEENS KIMDVVFQWL TTGDIHLNQI
260 270 280 290 300
DAEDPEISDY MMLPYTATLS KRNRECLQES DEIPRDFTTL FDLSIFQLDT
310 320 330 340 350
TSFHSVIEAH EQLNVKHEPL QLIQPQFETP LPTLQPAVFP PSFRELPPPP
360 370 380 390 400
LELFDLDETF SSEKARLAQI TNKCTEEDLE FYVRKCGDIL GVTSKLPKDQ
410 420 430
QDAKHILEHV FFQVVEFKKL NQEHDIDTSE TAFQNNF
Length:437
Mass (Da):49,706
Last modified:October 17, 2006 - 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:iA388E242BDA238A0
GO

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 conflicti84F → L in AAD34048 (PubMed:10810093).Curated1
Sequence conflicti149 – 150PG → LA in AAD34048 (PubMed:10810093).Curated2
Sequence conflicti235V → VV in AAD34048 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077805199A → T in SRTD16. 1 PublicationCorresponds to variant dbSNP:rs886037869EnsemblClinVar.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
AF151811 mRNA Translation: AAD34048.1
AK001436 mRNA Translation: BAG50913.1
AL121886 Genomic DNA No translation available.
Z98752 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75953.1
CH471077 Genomic DNA Translation: EAW75954.1
BC039831 mRNA Translation: AAH39831.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33470.1

NCBI Reference Sequences

More...
RefSeqi
NP_001290387.1, NM_001303458.2
NP_057088.2, NM_016004.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000373030; ENSP00000362121; ENSG00000101052
ENST00000373039; ENSP00000362130; ENSG00000101052

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51098

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51098

UCSC genome browser

More...
UCSCi
uc002xkw.4 human

<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
AF151811 mRNA Translation: AAD34048.1
AK001436 mRNA Translation: BAG50913.1
AL121886 Genomic DNA No translation available.
Z98752 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75953.1
CH471077 Genomic DNA Translation: EAW75954.1
BC039831 mRNA Translation: AAH39831.1
CCDSiCCDS33470.1
RefSeqiNP_001290387.1, NM_001303458.2
NP_057088.2, NM_016004.4

3D structure databases

SMRiQ9Y366
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119287, 28 interactors
CORUMiQ9Y366
IntActiQ9Y366, 16 interactors
STRINGi9606.ENSP00000362121

PTM databases

iPTMnetiQ9Y366
PhosphoSitePlusiQ9Y366

Polymorphism and mutation databases

BioMutaiIFT52
DMDMi116242524

Proteomic databases

EPDiQ9Y366
jPOSTiQ9Y366
MaxQBiQ9Y366
PaxDbiQ9Y366
PeptideAtlasiQ9Y366
PRIDEiQ9Y366
ProteomicsDBi85977

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
51098
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373030; ENSP00000362121; ENSG00000101052
ENST00000373039; ENSP00000362130; ENSG00000101052
GeneIDi51098
KEGGihsa:51098
UCSCiuc002xkw.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51098
DisGeNETi51098

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IFT52
HGNCiHGNC:15901 IFT52
HPAiHPA063367
HPA067423
MalaCardsiIFT52
MIMi617094 gene
617102 phenotype
neXtProtiNX_Q9Y366
OpenTargetsiENSG00000101052
Orphaneti1515 Cranioectodermal dysplasia
PharmGKBiPA25796

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3861 Eukaryota
ENOG410XPGR LUCA
GeneTreeiENSGT00390000011581
InParanoidiQ9Y366
KOiK19681
OMAiLGSGYIW
OrthoDBi925838at2759
PhylomeDBiQ9Y366
TreeFamiTF105916

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
IFT52 human

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

More...
GenomeRNAii
51098

Protein Ontology

More...
PROi
PR:Q9Y366

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101052 Expressed in 203 organ(s), highest expression level in testis
GenevisibleiQ9Y366 HS

Family and domain databases

InterProiView protein in InterPro
IPR019196 ABC_transp_unknown
IPR039975 IFT52
PANTHERiPTHR12969 PTHR12969, 1 hit
PfamiView protein in Pfam
PF09822 ABC_transp_aux, 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 nameiIFT52_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: Q9Y366
Secondary accession number(s): B3KMA1
, E1P5W9, Q5H8Z0, Q9H1G3, Q9H1G4, Q9H1H2
<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 19, 2002
Last sequence update: October 17, 2006
Last modified: May 8, 2019
This is version 141 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, 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 20
    Human chromosome 20: 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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