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Entry version 117 (08 May 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Hydrolethalus syndrome protein 1

Gene

HYLS1

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

Plays a role in ciliogenesis.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>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

<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:
Hydrolethalus syndrome protein 1
<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:HYLS1Imported
Synonyms:HLS
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26558 HYLS1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610693 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96M11

<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, Cytoplasm, Cytoskeleton

<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

Hydrolethalus syndrome 1 (HLS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery.
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_031867211D → G in HLS1; altered subcellular localization, becomes localized to nuclear structures. 1 PublicationCorresponds to variant dbSNP:rs104894232EnsemblClinVar.1
Defects in HYLS1 may be involved in ciliopathies other than hydrolethalus syndrome 1. A homozygous mutation resulting in a C-terminal extension of 11 residues has been found in patients diagnosed as Joubert syndrome, a ciliopathy presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.1 Publication

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
219844

MalaCards human disease database

More...
MalaCardsi
HYLS1
MIMi236680 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198331

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

More...
Orphaneti
2189 Hydrolethalus
475 Joubert syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671669

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HYLS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74732277

<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_00002849251 – 299Hydrolethalus syndrome protein 1Add BLAST299

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei179PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96M11

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96M11

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96M11

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

More...
PaxDbi
Q96M11

PeptideAtlas

More...
PeptideAtlasi
Q96M11

PRoteomics IDEntifications database

More...
PRIDEi
Q96M11

ProteomicsDB human proteome resource

More...
ProteomicsDBi
77278

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96M11

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

More...
PhosphoSitePlusi
Q96M11

<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
ENSG00000198331 Expressed in 160 organ(s), highest expression level in oocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96M11 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96M11 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041210

<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
GOLGA2Q083793EBI-720016,EBI-618309

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
128581, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q96M11, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000414884

<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
Q96M11

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

<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 HYLS1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410J0N2 Eukaryota
ENOG4111UPE LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000008848

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112979

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96M11

KEGG Orthology (KO)

More...
KOi
K16472

Identification of Orthologs from Complete Genome Data

More...
OMAi
RKELRWG

Database of Orthologous Groups

More...
OrthoDBi
358660at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96M11

TreeFam database of animal gene trees

More...
TreeFami
TF336132

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026227 HYLS1
IPR027918 HYLS1_C_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15311 HYLS1_C, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR02098 HYLETHALUSS1

<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.

Q96M11-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEELLPDGQI WANMDPEERM LAAATAFTHI CAGQGEGDVR REAQSIQYDP
60 70 80 90 100
YSKASVAPGK RPALPVQLQY PHVESNVPSE TVSEASQRLR KPVMKRKVLR
110 120 130 140 150
RKPDGEVLVT DESIISESES GTENDQDLWD LRQRLMNVQF QEDKESSFDV
160 170 180 190 200
SQKFNLPHEY QGISQDQLIC SLQREGMGSP AYEQDLIVAS RPKSFILPKL
210 220 230 240 250
DQLSRNRGKT DRVARYFEYK RDWDSIRLPG EDHRKELRWG VREQMLCRAE
260 270 280 290
PQSKPQHIYV PNNYLVPTEK KRSALRWGVR CDLANGVIPR KLPFPLSPS
Length:299
Mass (Da):34,359
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:iD1EAF5F7D638802D
GO

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

The sequence AAH15047 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03186631C → R2 PublicationsCorresponds to variant dbSNP:rs667782EnsemblClinVar.1
Natural variantiVAR_031867211D → G in HLS1; altered subcellular localization, becomes localized to nuclear structures. 1 PublicationCorresponds to variant dbSNP:rs104894232EnsemblClinVar.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
AK057477 mRNA Translation: BAB71503.1
AK127394 mRNA Translation: BAG54500.1
AP000842 Genomic DNA No translation available.
BC015047 mRNA Translation: AAH15047.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8467.1

NCBI Reference Sequences

More...
RefSeqi
NP_001128265.1, NM_001134793.1
NP_659451.1, NM_145014.2
XP_005271487.1, XM_005271430.2
XP_006718840.1, XM_006718777.3
XP_011540961.1, XM_011542659.2
XP_016872809.1, XM_017017320.1
XP_016872810.1, XM_017017321.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000356438; ENSP00000348815; ENSG00000198331
ENST00000425380; ENSP00000414884; ENSG00000198331
ENST00000526028; ENSP00000436833; ENSG00000198331

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
219844

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:219844

UCSC genome browser

More...
UCSCi
uc001qcx.5 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
AK057477 mRNA Translation: BAB71503.1
AK127394 mRNA Translation: BAG54500.1
AP000842 Genomic DNA No translation available.
BC015047 mRNA Translation: AAH15047.1 Different initiation.
CCDSiCCDS8467.1
RefSeqiNP_001128265.1, NM_001134793.1
NP_659451.1, NM_145014.2
XP_005271487.1, XM_005271430.2
XP_006718840.1, XM_006718777.3
XP_011540961.1, XM_011542659.2
XP_016872809.1, XM_017017320.1
XP_016872810.1, XM_017017321.1

3D structure databases

SMRiQ96M11
ModBaseiSearch...

Protein-protein interaction databases

BioGridi128581, 4 interactors
IntActiQ96M11, 2 interactors
STRINGi9606.ENSP00000414884

PTM databases

iPTMnetiQ96M11
PhosphoSitePlusiQ96M11

Polymorphism and mutation databases

BioMutaiHYLS1
DMDMi74732277

Proteomic databases

EPDiQ96M11
jPOSTiQ96M11
MaxQBiQ96M11
PaxDbiQ96M11
PeptideAtlasiQ96M11
PRIDEiQ96M11
ProteomicsDBi77278

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
219844
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356438; ENSP00000348815; ENSG00000198331
ENST00000425380; ENSP00000414884; ENSG00000198331
ENST00000526028; ENSP00000436833; ENSG00000198331
GeneIDi219844
KEGGihsa:219844
UCSCiuc001qcx.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
219844
DisGeNETi219844

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HYLS1
HGNCiHGNC:26558 HYLS1
HPAiHPA041210
MalaCardsiHYLS1
MIMi236680 phenotype
610693 gene
neXtProtiNX_Q96M11
OpenTargetsiENSG00000198331
Orphaneti2189 Hydrolethalus
475 Joubert syndrome
PharmGKBiPA142671669

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410J0N2 Eukaryota
ENOG4111UPE LUCA
GeneTreeiENSGT00390000008848
HOGENOMiHOG000112979
InParanoidiQ96M11
KOiK16472
OMAiRKELRWG
OrthoDBi358660at2759
PhylomeDBiQ96M11
TreeFamiTF336132

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HYLS1

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

More...
GenomeRNAii
219844

Protein Ontology

More...
PROi
PR:Q96M11

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198331 Expressed in 160 organ(s), highest expression level in oocyte
ExpressionAtlasiQ96M11 baseline and differential
GenevisibleiQ96M11 HS

Family and domain databases

InterProiView protein in InterPro
IPR026227 HYLS1
IPR027918 HYLS1_C_dom
PfamiView protein in Pfam
PF15311 HYLS1_C, 1 hit
PRINTSiPR02098 HYLETHALUSS1

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 nameiHYLS1_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: Q96M11
Secondary accession number(s): B3KXI8, Q96BX9
<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: May 1, 2007
Last sequence update: December 1, 2001
Last modified: May 8, 2019
This is version 117 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. SIMILARITY comments
    Index of protein domains and families
  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
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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