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Entry version 119 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Protein PIH1D3

Gene

PIH1D3

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 cytoplasmic pre-assembly of axonemal dynein.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>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 PIH1D3
Alternative name(s):
PIH1 domain-containing protein 3
Sarcoma antigen NY-SAR-97
<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:PIH1D3
Synonyms:CXorf41
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28570 PIH1D3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300933 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NQM4

<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

<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

Ciliary dyskinesia, primary, 36, X-linked (CILD36)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node.
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_078066119 – 214Missing in CILD36; defective preassembly of outer and inner dynein arms. 1 PublicationAdd BLAST96

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET

More...
DisGeNETi
139212

MalaCards human disease database

More...
MalaCardsi
PIH1D3
MIMi300991 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000080572

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

More...
Orphaneti
244 Primary ciliary dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134882142

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NQM4

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PIH1D3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
71153251

<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_00000797361 – 214Protein PIH1D3Add BLAST214

Proteomic databases

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

More...
PaxDbi
Q9NQM4

PeptideAtlas

More...
PeptideAtlasi
Q9NQM4

PRoteomics IDEntifications database

More...
PRIDEi
Q9NQM4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
82164

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NQM4

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

More...
PhosphoSitePlusi
Q9NQM4

<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

Expressed in testis, small intestine, prostate, adrenal gland, spleen, lung, bladder, breast and ovary.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000080572 Expressed in 37 organ(s), highest expression level in bronchial epithelial cell

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NQM4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA072496

<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

Interacts with HSPA1A/B, HSP90AA1 and DNAI2 (By similarity).

Interacts with DNAAF2 and DNAAF4 (PubMed:28041644).

By similarity1 Publication

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126551, 7 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NQM4, 16 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000441930

<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 PIH1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IN3D Eukaryota
ENOG4111RQI LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015219

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007078

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NQM4

Identification of Orthologs from Complete Genome Data

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OMAi
PSSMCCE

Database of Orthologous Groups

More...
OrthoDBi
1561656at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NQM4

TreeFam database of animal gene trees

More...
TreeFami
TF325677

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR041442 PIH1D1/2/3_CS-like
IPR026697 PIH1D3

The PANTHER Classification System

More...
PANTHERi
PTHR21083 PTHR21083, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF18201 PIH1_CS, 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.

Q9NQM4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MESENMDSEN MKTENMESQN VDFESVSSVT ALEALSKLLN PEEEDDSDYG
60 70 80 90 100
QTNGLSTIGA MGPGNIGPPQ IEELKVIPET SEENNEDIWN SEEIPEGAEY
110 120 130 140 150
DDMWDVREIP EYEIIFRQQV GTEDIFLGLS KKDSSTGCCS ELVAKIKLPN
160 170 180 190 200
TNPSDIQIDI QETILDLRTP QKKLLITLPE LVECTSAKAF YIPETETLEI
210
TMTMKRELDI ANFF
Length:214
Mass (Da):24,069
Last modified:October 1, 2000 - 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:iF86B2E210BBC06F6
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 AAO65181 differs from that shown. Reason: Frameshift.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078066119 – 214Missing in CILD36; defective preassembly of outer and inner dynein arms. 1 PublicationAdd BLAST96

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
AL136112 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02716.1
CH471120 Genomic DNA Translation: EAX02717.1
BC033510 mRNA Translation: AAH33510.1
AY211928 mRNA Translation: AAO65181.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14528.1

NCBI Reference Sequences

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RefSeqi
NP_001162625.1, NM_001169154.1
NP_775765.1, NM_173494.1
XP_011529157.1, XM_011530855.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000336387; ENSP00000337757; ENSG00000080572
ENST00000372453; ENSP00000361531; ENSG00000080572
ENST00000535523; ENSP00000441930; ENSG00000080572

Database of genes from NCBI RefSeq genomes

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GeneIDi
139212

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:139212

UCSC genome browser

More...
UCSCi
uc004enc.3 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
AL136112 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02716.1
CH471120 Genomic DNA Translation: EAX02717.1
BC033510 mRNA Translation: AAH33510.1
AY211928 mRNA Translation: AAO65181.1 Frameshift.
CCDSiCCDS14528.1
RefSeqiNP_001162625.1, NM_001169154.1
NP_775765.1, NM_173494.1
XP_011529157.1, XM_011530855.2

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

BioGridi126551, 7 interactors
IntActiQ9NQM4, 16 interactors
STRINGi9606.ENSP00000441930

PTM databases

iPTMnetiQ9NQM4
PhosphoSitePlusiQ9NQM4

Polymorphism and mutation databases

BioMutaiPIH1D3
DMDMi71153251

Proteomic databases

PaxDbiQ9NQM4
PeptideAtlasiQ9NQM4
PRIDEiQ9NQM4
ProteomicsDBi82164

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
139212

Genome annotation databases

EnsembliENST00000336387; ENSP00000337757; ENSG00000080572
ENST00000372453; ENSP00000361531; ENSG00000080572
ENST00000535523; ENSP00000441930; ENSG00000080572
GeneIDi139212
KEGGihsa:139212
UCSCiuc004enc.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
139212
DisGeNETi139212

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PIH1D3
HGNCiHGNC:28570 PIH1D3
HPAiHPA072496
MalaCardsiPIH1D3
MIMi300933 gene
300991 phenotype
neXtProtiNX_Q9NQM4
OpenTargetsiENSG00000080572
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA134882142

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IN3D Eukaryota
ENOG4111RQI LUCA
GeneTreeiENSGT00390000015219
HOGENOMiHOG000007078
InParanoidiQ9NQM4
OMAiPSSMCCE
OrthoDBi1561656at2759
PhylomeDBiQ9NQM4
TreeFamiTF325677

Miscellaneous databases

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

More...
GenomeRNAii
139212
PharosiQ9NQM4

Protein Ontology

More...
PROi
PR:Q9NQM4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000080572 Expressed in 37 organ(s), highest expression level in bronchial epithelial cell
GenevisibleiQ9NQM4 HS

Family and domain databases

InterProiView protein in InterPro
IPR041442 PIH1D1/2/3_CS-like
IPR026697 PIH1D3
PANTHERiPTHR21083 PTHR21083, 1 hit
PfamiView protein in Pfam
PF18201 PIH1_CS, 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 nameiPIHD3_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: Q9NQM4
Secondary accession number(s): D3DUX5, Q86WE1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 119 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 chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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