UniProtKB - O75054 (IGSF3_HUMAN)
Protein
Immunoglobulin superfamily member 3
Gene
IGSF3
Organism
Homo sapiens (Human)
Status
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.
GO - Biological processi
- lacrimal gland development Source: UniProtKB
Names & Taxonomyi
Protein namesi | Recommended name: Immunoglobulin superfamily member 3Short name: IgSF3 Alternative name(s): Glu-Trp-Ile EWI motif-containing protein 3 Short name: EWI-3 |
Gene namesi | Name:IGSF3 Synonyms:EWI3, KIAA0466 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000143061.17 |
HGNCi | HGNC:5950 IGSF3 |
MIMi | 603491 gene |
neXtProti | NX_O75054 |
Subcellular locationi
Other locations
- Membrane Curated; Single-pass type I membrane protein Curated
Other locations
- cell surface Source: UniProtKB
- integral component of membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 20 – 1124 | ExtracellularSequence analysisAdd BLAST | 1105 | |
Transmembranei | 1125 – 1145 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1146 – 1194 | CytoplasmicSequence analysisAdd BLAST | 49 |
Keywords - Cellular componenti
MembranePathology & Biotechi
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.
See also OMIM:149700Organism-specific databases
DisGeNETi | 3321 |
MalaCardsi | IGSF3 |
MIMi | 149700 phenotype |
OpenTargetsi | ENSG00000143061 |
Orphaneti | 451612 Familial congenital nasolacrimal duct obstruction |
PharmGKBi | PA29763 |
Polymorphism and mutation databases
BioMutai | IGSF3 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 19 | Sequence analysisAdd BLAST | 19 | |
ChainiPRO_0000320134 | 20 – 1194 | Immunoglobulin superfamily member 3Add BLAST | 1175 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 42 ↔ 120 | PROSITE-ProRule annotation | ||
Glycosylationi | 43 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 167 ↔ 246 | PROSITE-ProRule annotation | ||
Disulfide bondi | 302 ↔ 376 | PROSITE-ProRule annotation | ||
Glycosylationi | 418 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 432 ↔ 511 | PROSITE-ProRule annotation | ||
Disulfide bondi | 566 ↔ 645 | PROSITE-ProRule annotation | ||
Glycosylationi | 655 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 701 ↔ 782 | PROSITE-ProRule annotation | ||
Disulfide bondi | 838 ↔ 918 | PROSITE-ProRule annotation | ||
Glycosylationi | 842 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 974 ↔ 1080 | PROSITE-ProRule annotation | ||
Glycosylationi | 1077 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | O75054 |
jPOSTi | O75054 |
MaxQBi | O75054 |
PaxDbi | O75054 |
PeptideAtlasi | O75054 |
PRIDEi | O75054 |
ProteomicsDBi | 49728 49729 [O75054-2] |
PTM databases
GlyConnecti | 1392 |
iPTMneti | O75054 |
PhosphoSitePlusi | O75054 |
Expressioni
Tissue specificityi
Expressed in a wide range of tissues with High expression in Placenta, kidney and lung.1 Publication
Gene expression databases
Bgeei | ENSG00000143061 Expressed in 208 organ(s), highest expression level in cerebral cortex |
Genevisiblei | O75054 HS |
Organism-specific databases
HPAi | HPA036305 HPA036306 |
Interactioni
Protein-protein interaction databases
BioGridi | 109553, 12 interactors |
IntActi | O75054, 7 interactors |
STRINGi | 9606.ENSP00000321184 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 20 – 138 | Ig-like C2-type 1Add BLAST | 119 | |
Domaini | 143 – 262 | Ig-like C2-type 2Add BLAST | 120 | |
Domaini | 276 – 386 | Ig-like C2-type 3Add BLAST | 111 | |
Domaini | 401 – 539 | Ig-like C2-type 4Add BLAST | 139 | |
Domaini | 545 – 661 | Ig-like C2-type 5Add BLAST | 117 | |
Domaini | 676 – 803 | Ig-like C2-type 6Add BLAST | 128 | |
Domaini | 813 – 945 | Ig-like C2-type 7Add BLAST | 133 | |
Domaini | 949 – 1097 | Ig-like C2-type 8Add BLAST | 149 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 250 – 252 | EWI motif | 3 |
Keywords - Domaini
Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG410IFBX Eukaryota ENOG410YWQX LUCA |
GeneTreei | ENSGT00940000155177 |
HOGENOMi | HOG000293322 |
HOVERGENi | HBG107998 |
InParanoidi | O75054 |
KOi | K06522 |
OMAi | VEEWLLN |
OrthoDBi | 180654at2759 |
PhylomeDBi | O75054 |
TreeFami | TF332702 |
Family and domain databases
Gene3Di | 2.60.40.10, 8 hits |
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 |
Pfami | View protein in Pfam PF07686 V-set, 4 hits |
SMARTi | View protein in SMART SM00409 IG, 8 hits SM00408 IGc2, 4 hits SM00406 IGv, 4 hits |
SUPFAMi | SSF48726 SSF48726, 7 hits |
PROSITEi | View protein in PROSITE PS50835 IG_LIKE, 7 hits |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: O75054-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
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
Sequence cautioni
The sequence BAA32311 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 932 | Y → S in AAC72013 (PubMed:9790749).Curated | 1 | |
Sequence conflicti | 1013 | R → RE in AAC72013 (PubMed:9790749).Curated | 1 | |
Sequence conflicti | 1047 | S → N in AAC72013 (PubMed:9790749).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_039134 | 51 | S → P. Corresponds to variant dbSNP:rs3965246Ensembl. | 1 | |
Natural variantiVAR_039135 | 1020 | D → E1 PublicationCorresponds to variant dbSNP:rs647711Ensembl. | 1 | |
Natural variantiVAR_039136 | 1073 | Q → R. Corresponds to variant dbSNP:rs6703791Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_031609 | 407 – 408 | LK → LTDNWVVKVPQHHQLLSQGH LE in isoform 2. 1 Publication | 2 |
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. |
CCDSi | CCDS30813.1 [O75054-1] CCDS30814.1 [O75054-2] |
RefSeqi | NP_001007238.1, NM_001007237.2 [O75054-1] NP_001533.2, NM_001542.3 [O75054-2] XP_005270850.1, XM_005270793.2 [O75054-2] XP_011539617.1, XM_011541315.1 [O75054-2] |
UniGenei | Hs.171057 |
Genome annotation databases
Ensembli | ENST00000318837; ENSP00000321184; ENSG00000143061 [O75054-2] ENST00000369483; ENSP00000358495; ENSG00000143061 [O75054-2] ENST00000369486; ENSP00000358498; ENSG00000143061 [O75054-1] |
GeneIDi | 3321 |
KEGGi | hsa:3321 |
UCSCi | uc001egr.3 human [O75054-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangement, PolymorphismSimilar proteinsi
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. |
CCDSi | CCDS30813.1 [O75054-1] CCDS30814.1 [O75054-2] |
RefSeqi | NP_001007238.1, NM_001007237.2 [O75054-1] NP_001533.2, NM_001542.3 [O75054-2] XP_005270850.1, XM_005270793.2 [O75054-2] XP_011539617.1, XM_011541315.1 [O75054-2] |
UniGenei | Hs.171057 |
3D structure databases
ProteinModelPortali | O75054 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 109553, 12 interactors |
IntActi | O75054, 7 interactors |
STRINGi | 9606.ENSP00000321184 |
PTM databases
GlyConnecti | 1392 |
iPTMneti | O75054 |
PhosphoSitePlusi | O75054 |
Polymorphism and mutation databases
BioMutai | IGSF3 |
Proteomic databases
EPDi | O75054 |
jPOSTi | O75054 |
MaxQBi | O75054 |
PaxDbi | O75054 |
PeptideAtlasi | O75054 |
PRIDEi | O75054 |
ProteomicsDBi | 49728 49729 [O75054-2] |
Protocols and materials databases
DNASUi | 3321 |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000318837; ENSP00000321184; ENSG00000143061 [O75054-2] ENST00000369483; ENSP00000358495; ENSG00000143061 [O75054-2] ENST00000369486; ENSP00000358498; ENSG00000143061 [O75054-1] |
GeneIDi | 3321 |
KEGGi | hsa:3321 |
UCSCi | uc001egr.3 human [O75054-1] |
Organism-specific databases
CTDi | 3321 |
DisGeNETi | 3321 |
EuPathDBi | HostDB:ENSG00000143061.17 |
GeneCardsi | IGSF3 |
H-InvDBi | HIX0000930 |
HGNCi | HGNC:5950 IGSF3 |
HPAi | HPA036305 HPA036306 |
MalaCardsi | IGSF3 |
MIMi | 149700 phenotype 603491 gene |
neXtProti | NX_O75054 |
OpenTargetsi | ENSG00000143061 |
Orphaneti | 451612 Familial congenital nasolacrimal duct obstruction |
PharmGKBi | PA29763 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IFBX Eukaryota ENOG410YWQX LUCA |
GeneTreei | ENSGT00940000155177 |
HOGENOMi | HOG000293322 |
HOVERGENi | HBG107998 |
InParanoidi | O75054 |
KOi | K06522 |
OMAi | VEEWLLN |
OrthoDBi | 180654at2759 |
PhylomeDBi | O75054 |
TreeFami | TF332702 |
Miscellaneous databases
ChiTaRSi | IGSF3 human |
GenomeRNAii | 3321 |
PROi | PR:O75054 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143061 Expressed in 208 organ(s), highest expression level in cerebral cortex |
Genevisiblei | O75054 HS |
Family and domain databases
Gene3Di | 2.60.40.10, 8 hits |
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 |
Pfami | View protein in Pfam PF07686 V-set, 4 hits |
SMARTi | View protein in SMART SM00409 IG, 8 hits SM00408 IGc2, 4 hits SM00406 IGv, 4 hits |
SUPFAMi | SSF48726 SSF48726, 7 hits |
PROSITEi | View protein in PROSITE PS50835 IG_LIKE, 7 hits |
ProtoNeti | Search... |
Entry informationi
Entry namei | IGSF3_HUMAN | |
Accessioni | O75054Primary (citable) accession number: O75054 Secondary accession number(s): A6NJZ6, A6NMC7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 26, 2008 |
Last sequence update: | February 26, 2008 | |
Last modified: | February 13, 2019 | |
This is version 143 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations