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UniProtKB - O75054 (IGSF3_HUMAN)

Entry version 154 (02 Dec 2020)
Sequence version 3 (26 Feb 2008)
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Protein

Immunoglobulin superfamily member 3

Gene

IGSF3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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 transcript 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

Miscellaneous

Likely interchromosomal Alu-mediated fusion between IGSF3 on 1p13.1 and GGT on 22q11.2. Breakpoints occurred inside Alu elements as well as in the 5' or 3' ends of them.

<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

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75054

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Immunoglobulin superfamily member 3
Short name:
IgSF3
Alternative name(s):
Glu-Trp-Ile EWI motif-containing protein 3
Short name:
EWI-3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IGSF3
Synonyms:EWI3, KIAA0466
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000143061.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:5950, IGSF3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603491, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75054

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini20 – 1124ExtracellularSequence analysisAdd BLAST1105
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1125 – 1145HelicalSequence analysisAdd BLAST21
Topological domaini1146 – 1194CytoplasmicSequence analysisAdd BLAST49

<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

Membrane

<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

Lacrimal duct defect (LCDD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		3321

MalaCards human disease database

More...MalaCardsi		IGSF3
MIMi149700, phenotype

Open Targets

More...OpenTargetsi		ENSG00000143061

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

More...Orphaneti		451612, Familial congenital nasolacrimal duct obstruction

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29763

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75054, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IGSF3

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Sequence analysisAdd BLAST19
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000032013420 – 1194Immunoglobulin superfamily member 3Add BLAST1175

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi42 ↔ 120PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi43N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi167 ↔ 246PROSITE-ProRule annotation
Disulfide bondi302 ↔ 376PROSITE-ProRule annotation
Glycosylationi418N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi432 ↔ 511PROSITE-ProRule annotation
Disulfide bondi566 ↔ 645PROSITE-ProRule annotation
Glycosylationi655N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi701 ↔ 782PROSITE-ProRule annotation
Disulfide bondi838 ↔ 918PROSITE-ProRule annotation
Glycosylationi842N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi974 ↔ 1080PROSITE-ProRule annotation
Glycosylationi1077N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75054

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75054

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75054

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75054

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

More...PaxDbi		O75054

PeptideAtlas

More...PeptideAtlasi		O75054

PRoteomics IDEntifications database

More...PRIDEi		O75054

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		1365
49728 [O75054-1]
49729 [O75054-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1392, 2 N-Linked glycans (2 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O75054, 8 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75054

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

More...PhosphoSitePlusi		O75054

<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 a wide range of tissues with High expression in Placenta, kidney and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000143061, Expressed in cerebral cortex and 223 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75054, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000143061, Tissue enhanced (placenta)

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109553, 15 interactors

Protein interaction database and analysis system

More...IntActi		O75054, 16 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000358495

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75054, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini20 – 138Ig-like C2-type 1Add BLAST119
Domaini143 – 262Ig-like C2-type 2Add BLAST120
Domaini276 – 386Ig-like C2-type 3Add BLAST111
Domaini401 – 539Ig-like C2-type 4Add BLAST139
Domaini545 – 661Ig-like C2-type 5Add BLAST117
Domaini676 – 803Ig-like C2-type 6Add BLAST128
Domaini813 – 945Ig-like C2-type 7Add BLAST133
Domaini949 – 1097Ig-like C2-type 8Add BLAST149

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi250 – 252EWI motif3

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QRRB, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155177

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005187_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75054

Identification of Orthologs from Complete Genome Data

More...OMAi		EQDFEWS

Database of Orthologous Groups

More...OrthoDBi		180654at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75054

TreeFam database of animal gene trees

More...TreeFami		TF332702

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 8 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR013106, Ig_V-set

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07686, V-set, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00409, IG, 8 hits
SM00408, IGc2, 4 hits
SM00406, IGv, 4 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726, SSF48726, 7 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50835, IG_LIKE, 7 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O75054-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKCFFPVLSC LAVLGVVSAQ RQVTVQEGPL YRTEGSHITI WCNVSGYQGP 
        60         70         80         90        100
SEQNFQWSIY LPSSPEREVQ IVSTMDSSFP YAIYTQRVRG GKIFIERVQG 
       110        120        130        140        150
NSTLLHITDL QARDAGEYEC HTPSTDKQYF GSYSAKMNLV VIPDSLQTTA 
       160        170        180        190        200
MPQTLHRVEQ DPLELTCEVA SETIQHSHLS VAWLRQKVGE KPVEVISLSR 
       210        220        230        240        250
DFMLHSSSEY AQRQSLGEVR LDKLGRTTFR LTIFHLQPSD QGEFYCEAAE 
       260        270        280        290        300
WIQDPDGSWY AMTRKRSEGA VVNVQPTDKE FTVRLETEKR LHTVGEPVEF 
       310        320        330        340        350
RCILEAQNVP DRYFAVSWAF NSSLIATMGP NAVPVLNSEF AHREARGQLK 
       360        370        380        390        400
VAKESDSVFV LKIYHLRQED SGKYNCRVTE REKTVTGEFI DKESKRPKNI 
       410        420        430        440        450
PIIVLPLKSS ISVEVASNAS VILEGEDLRF SCSVRTAGRP QGRFSVIWQL 
       460        470        480        490        500
VDRQNRRSNI MWLDRDGTVQ PGSSYWERSS FGGVQMEQVQ PNSFSLGIFN 
       510        520        530        540        550
SRKEDEGQYE CHVTEWVRAV DGEWQIVGER RASTPISITA LEMGFAVTAI 
       560        570        580        590        600
SRTPGVTYSD SFDLQCIIKP HYPAWVPVSV TWRFQPVGTV EFHDLVTFTR 
       610        620        630        640        650
DGGVQWGDRS SSFRTRTAIE KAESSNNVRL SISRASDTEA GKYQCVAELW 
       660        670        680        690        700
RKNYNNTWTR LAERTSNLLE IRVLQPVTKL QVSKSKRTLT LVENKPIQLN 
       710        720        730        740        750
CSVKSQTSQN SHFAVLWYVH KPSDADGKLI LKTTHNSAFE YGTYAEEEGL 
       760        770        780        790        800
RARLQFERHV SGGLFSLTVQ RAEVSDSGSY YCHVEEWLLS PNYAWYKLAE 
       810        820        830        840        850
EVSGRTEVTV KQPDSRLRLS QAQGNLSVLE TRQVQLECVV LNRTSITSQL 
       860        870        880        890        900
MVEWFVWKPN HPERETVARL SRDATFHYGE QAAKNNLKGR LHLESPSPGV 
       910        920        930        940        950
YRLFIQNVAV QDSGTYSCHV EEWLPSPSGM WYKRAEDTAG QTALTVMRPD 
       960        970        980        990       1000
ASLQVDTVVP NATVSEKAAF QLDCSIVSRS SQDSRFAVAW YSLRTKAGGK 
      1010       1020       1030       1040       1050
RSSPGLEEQE EEREEEEEED DDDDDDPTER TALLSVGPDA VFGPEGSPWE 
      1060       1070       1080       1090       1100
GRLRFQRLSP VLYRLTVLQA SPQDTGNYSC HVEEWLPSPQ KEWYRLTEEE 
      1110       1120       1130       1140       1150
SAPIGIRVLD TSPTLQSIIC SNDALFYFVF FYPFPIFGIL IITILLVRFK 
      1160       1170       1180       1190 
SRNSSKNSDG KNGVPLLWIK EPHLNYSPTC LEPPVLSIHP GAID
Length:1,194
Mass (Da):135,196
Last modified:February 26, 2008 - 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:iC5E22EDBC81714DD
GO
Isoform 2 (identifier: O75054-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     407-408: LK → LTDNWVVKVPQHHQLLSQGHLE

Show »
Length:1,214
Mass (Da):137,516
Checksum:i78BA82F1F6D072BA
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 AAC72013 differs from that shown. Reason: Frameshift.Curated
The sequence BAA32311 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

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 conflicti932Y → S in AAC72013 (PubMed:9790749).Curated1
Sequence conflicti1013R → RE in AAC72013 (PubMed:9790749).Curated1
Sequence conflicti1047S → N in AAC72013 (PubMed:9790749).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03913451S → P. Corresponds to variant dbSNP:rs3965246Ensembl.1
Natural variantiVAR_0391351020D → E1 PublicationCorresponds to variant dbSNP:rs647711EnsemblClinVar.1
Natural variantiVAR_0391361073Q → R. Corresponds to variant dbSNP:rs6703791Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_031609407 – 408LK → LTDNWVVKVPQHHQLLSQGH LE in isoform 2. 1 Publication2

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
AF031174 mRNA Translation: AAC72013.1 Frameshift.
AB007935 mRNA Translation: BAA32311.2 Different initiation.
AL355794 Genomic DNA No translation available.
AL356748 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS30813.1 [O75054-1]
CCDS30814.1 [O75054-2]

NCBI Reference Sequences

More...RefSeqi		NP_001007238.1, NM_001007237.2 [O75054-1]
NP_001533.2, NM_001542.3 [O75054-2]
XP_005270850.1, XM_005270793.2
XP_011539617.1, XM_011541315.1 [O75054-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000318837; ENSP00000321184; ENSG00000143061 [O75054-2]
ENST00000369483; ENSP00000358495; ENSG00000143061 [O75054-2]
ENST00000369486; ENSP00000358498; ENSG00000143061 [O75054-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3321

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3321

UCSC genome browser

More...UCSCi		uc001egr.3, human [O75054-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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
AF031174 mRNA Translation: AAC72013.1 Frameshift.
AB007935 mRNA Translation: BAA32311.2 Different initiation.
AL355794 Genomic DNA No translation available.
AL356748 Genomic DNA No translation available.
CCDSiCCDS30813.1 [O75054-1]
CCDS30814.1 [O75054-2]
RefSeqiNP_001007238.1, NM_001007237.2 [O75054-1]
NP_001533.2, NM_001542.3 [O75054-2]
XP_005270850.1, XM_005270793.2
XP_011539617.1, XM_011541315.1 [O75054-2]

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

BioGRIDi109553, 15 interactors
IntActiO75054, 16 interactors
STRINGi9606.ENSP00000358495

PTM databases

GlyConnecti1392, 2 N-Linked glycans (2 sites)
GlyGeniO75054, 8 sites
iPTMnetiO75054
PhosphoSitePlusiO75054

Polymorphism and mutation databases

BioMutaiIGSF3

Proteomic databases

EPDiO75054
jPOSTiO75054
MassIVEiO75054
MaxQBiO75054
PaxDbiO75054
PeptideAtlasiO75054
PRIDEiO75054
ProteomicsDBi1365
49728 [O75054-1]
49729 [O75054-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		46948, 172 antibodies

The DNASU plasmid repository

More...DNASUi		3321

Genome annotation databases

EnsembliENST00000318837; ENSP00000321184; ENSG00000143061 [O75054-2]
ENST00000369483; ENSP00000358495; ENSG00000143061 [O75054-2]
ENST00000369486; ENSP00000358498; ENSG00000143061 [O75054-1]
GeneIDi3321
KEGGihsa:3321
UCSCiuc001egr.3, human [O75054-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3321
DisGeNETi3321
EuPathDBiHostDB:ENSG00000143061.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		IGSF3
HGNCiHGNC:5950, IGSF3
HPAiENSG00000143061, Tissue enhanced (placenta)
MalaCardsiIGSF3
MIMi149700, phenotype
603491, gene
neXtProtiNX_O75054
OpenTargetsiENSG00000143061
Orphaneti451612, Familial congenital nasolacrimal duct obstruction
PharmGKBiPA29763

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QRRB, Eukaryota
GeneTreeiENSGT00940000155177
HOGENOMiCLU_005187_0_0_1
InParanoidiO75054
OMAiEQDFEWS
OrthoDBi180654at2759
PhylomeDBiO75054
TreeFamiTF332702

Enzyme and pathway databases

PathwayCommonsiO75054

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3321, 79 hits in 846 CRISPR screens

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

More...ChiTaRSi		IGSF3, human

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

More...GenomeRNAii		3321
PharosiO75054, Tbio

Protein Ontology

More...PROi		PR:O75054
RNActiO75054, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000143061, Expressed in cerebral cortex and 223 other tissues
GenevisibleiO75054, HS

Family and domain databases

Gene3Di2.60.40.10, 8 hits
InterProiView protein in InterPro
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR013106, Ig_V-set
PfamiView protein in Pfam
PF07686, V-set, 4 hits
SMARTiView protein in SMART
SM00409, IG, 8 hits
SM00408, IGc2, 4 hits
SM00406, IGv, 4 hits
SUPFAMiSSF48726, SSF48726, 7 hits
PROSITEiView protein in PROSITE
PS50835, IG_LIKE, 7 hits

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 nameiIGSF3_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: O75054
Secondary accession number(s): A6NJZ6, A6NMC7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: December 2, 2020
This is version 154 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

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 1
    Human chromosome 1: 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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