UniProtKB - Q86UX7 (URP2_HUMAN)
Protein
Fermitin family homolog 3
Gene
FERMT3
Organism
Homo sapiens (Human)
Status
Functioni
Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity).By similarity3 Publications
Isoform 2 may act as a repressor of NF-kappa-B and apoptosis.3 Publications
GO - Molecular functioni
- integrin binding Source: UniProtKB
GO - Biological processi
- cell-matrix adhesion Source: GO_Central
- integrin activation Source: UniProtKB
- integrin-mediated signaling pathway Source: UniProtKB
- leukocyte cell-cell adhesion Source: UniProtKB
- platelet aggregation Source: UniProtKB
- platelet degranulation Source: Reactome
- positive regulation of cell migration Source: UniProtKB
- regulation of cell-cell adhesion mediated by integrin Source: UniProtKB
- substrate adhesion-dependent cell spreading Source: UniProtKB
Keywordsi
Biological process | Cell adhesion |
Enzyme and pathway databases
PathwayCommonsi | Q86UX7 |
Reactomei | R-HSA-114608, Platelet degranulation |
Names & Taxonomyi
Protein namesi | Recommended name: Fermitin family homolog 3Alternative name(s): Kindlin-3 MIG2-like protein Unc-112-related protein 2 |
Gene namesi | Name:FERMT3 Synonyms:KIND3, MIG2B, URP2 |
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
HGNCi | HGNC:23151, FERMT3 |
MIMi | 607901, gene |
neXtProti | NX_Q86UX7 |
VEuPathDBi | HostDB:ENSG00000149781.12 |
Subcellular locationi
Other locations
- podosome By similarity
Note: Present in the F-actin surrounding ring structure of podosomes, which are specialized adhesion structures of hematopoietic cells.By similarity
Cytoskeleton
- podosome Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: Reactome
Other locations
- cell projection Source: UniProtKB-KW
- cell-substrate junction Source: GO_Central
- membrane Source: UniProtKB
- platelet alpha granule lumen Source: Reactome
Keywords - Cellular componenti
Cell junction, Cell projectionPathology & Biotechi
Involvement in diseasei
Leukocyte adhesion deficiency 3 (LAD3)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074597 | 599 | Q → S in LAD3; unknown pathological significance; decreases cell adhesion in hematopoietic cells; requires 2 nucleotide substitutions. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 83706 |
MalaCardsi | FERMT3 |
MIMi | 612840, phenotype |
OpenTargetsi | ENSG00000149781 |
Orphaneti | 99844, Leukocyte adhesion deficiency type III |
PharmGKBi | PA162388384 |
Miscellaneous databases
Pharosi | Q86UX7, Tbio |
Genetic variation databases
BioMutai | FERMT3 |
DMDMi | 41018464 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000219454 | 1 – 667 | Fermitin family homolog 3Add BLAST | 667 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 8 | PhosphoserineCombined sources | 1 | |
Modified residuei | 11 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 504 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 591 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q86UX7 |
jPOSTi | Q86UX7 |
MassIVEi | Q86UX7 |
MaxQBi | Q86UX7 |
PaxDbi | Q86UX7 |
PeptideAtlasi | Q86UX7 |
PRIDEi | Q86UX7 |
ProteomicsDBi | 69932 [Q86UX7-1] 69933 [Q86UX7-2] |
PTM databases
iPTMneti | Q86UX7 |
PhosphoSitePlusi | Q86UX7 |
Expressioni
Tissue specificityi
Highly expressed in lymph node. Expressed in thymus, spleen and leukocytes. Weakly expressed in placenta, small intestine, stomach, testis and lung. Overexpressed in B-cell malignancies.2 Publications
Gene expression databases
Bgeei | ENSG00000149781, Expressed in granulocyte and 161 other tissues |
ExpressionAtlasi | Q86UX7, baseline and differential |
Genevisiblei | Q86UX7, HS |
Organism-specific databases
HPAi | ENSG00000149781, Tissue enhanced (blood, bone marrow, lymphoid tissue) |
Interactioni
Subunit structurei
Interacts with ITGB1, ITGB2 and ITGB3 (via cytoplasmic tails).
By similarityBinary interactionsi
Hide detailsIsoform 2 [Q86UX7-2]
With | #Exp. | IntAct |
---|---|---|
ANKRD29 [Q8N6D5] | 3 | EBI-12915620,EBI-17439331 |
PRPF18 [Q99633] | 3 | EBI-12915620,EBI-2798416 |
GO - Molecular functioni
- integrin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123735, 51 interactors |
CORUMi | Q86UX7 |
IntActi | Q86UX7, 39 interactors |
STRINGi | 9606.ENSP00000279227 |
Miscellaneous databases
RNActi | Q86UX7, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q86UX7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q86UX7 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 229 – 558 | FERMAdd BLAST | 330 | |
Domaini | 354 – 457 | PHPROSITE-ProRule annotationAdd BLAST | 104 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 147 – 155 | Poly-Lys | 9 |
Domaini
The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.
Sequence similaritiesi
Belongs to the kindlin family.Curated
Phylogenomic databases
eggNOGi | KOG3727, Eukaryota |
GeneTreei | ENSGT00390000013444 |
HOGENOMi | CLU_011611_0_0_1 |
InParanoidi | Q86UX7 |
OMAi | AQINSRW |
OrthoDBi | 248494at2759 |
PhylomeDBi | Q86UX7 |
TreeFami | TF314677 |
Family and domain databases
CDDi | cd14473, FERM_B-lobe, 1 hit cd01237, PH_fermitin, 1 hit |
DisProti | DP01784 |
Gene3Di | 2.30.29.30, 2 hits |
InterProi | View protein in InterPro IPR019749, Band_41_domain IPR035963, FERM_2 IPR019748, FERM_central IPR037843, Kindlin/fermitin IPR040790, Kindlin_2_N IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR037837, PH_Kindlin/fermitin |
PANTHERi | PTHR16160, PTHR16160, 1 hit |
Pfami | View protein in Pfam PF00373, FERM_M, 1 hit PF18124, Kindlin_2_N, 1 hit PF00169, PH, 1 hit |
SMARTi | View protein in SMART SM00295, B41, 1 hit SM00233, PH, 1 hit |
SUPFAMi | SSF47031, SSF47031, 2 hits |
PROSITEi | View protein in PROSITE PS00661, FERM_2, 1 hit PS50003, PH_DOMAIN, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q86UX7-1) [UniParc]FASTAAdd to basket
Also known as: Long, URP2LF
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAGMKTASGD YIDSSWELRV FVGEEDPEAE SVTLRVTGES HIGGVLLKIV
60 70 80 90 100
EQINRKQDWS DHAIWWEQKR QWLLQTHWTL DKYGILADAR LFFGPQHRPV
110 120 130 140 150
ILRLPNRRAL RLRASFSQPL FQAVAAICRL LSIRHPEELS LLRAPEKKEK
160 170 180 190 200
KKKEKEPEEE LYDLSKVVLA GGVAPALFRG MPAHFSDSAQ TEACYHMLSR
210 220 230 240 250
PQPPPDPLLL QRLPRPSSLS DKTQLHSRWL DSSRCLMQQG IKAGDALWLR
260 270 280 290 300
FKYYSFFDLD PKTDPVRLTQ LYEQARWDLL LEEIDCTEEE MMVFAALQYH
310 320 330 340 350
INKLSQSGEV GEPAGTDPGL DDLDVALSNL EVKLEGSAPT DVLDSLTTIP
360 370 380 390 400
ELKDHLRIFR IPRRPRKLTL KGYRQHWVVF KETTLSYYKS QDEAPGDPIQ
410 420 430 440 450
QLNLKGCEVV PDVNVSGQKF CIKLLVPSPE GMSEIYLRCQ DEQQYARWMA
460 470 480 490 500
GCRLASKGRT MADSSYTSEV QAILAFLSLQ RTGSGGPGNH PHGPDASAEG
510 520 530 540 550
LNPYGLVAPR FQRKFKAKQL TPRILEAHQN VAQLSLAEAQ LRFIQAWQSL
560 570 580 590 600
PDFGISYVMV RFKGSRKDEI LGIANNRLIR IDLAVGDVVK TWRFSNMRQW
610 620 630 640 650
NVNWDIRQVA IEFDEHINVA FSCVSASCRI VHEYIGGYIF LSTRERARGE
660
ELDEDLFLQL TGGHEAF
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YFT5 | H0YFT5_HUMAN | Fermitin family homolog 3 | FERMT3 | 184 | Annotation score: | ||
F5H1C6 | F5H1C6_HUMAN | Fermitin family homolog 3 | FERMT3 | 286 | Annotation score: | ||
F5H3I6 | F5H3I6_HUMAN | Fermitin family homolog 3 | FERMT3 | 81 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 472 | A → P in BAC04220 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 480 | Q → R in BAC04220 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074597 | 599 | Q → S in LAD3; unknown pathological significance; decreases cell adhesion in hematopoietic cells; requires 2 nucleotide substitutions. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_009226 | 360 – 363 | Missing in isoform 2. 3 Publications | 4 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY093951 mRNA Translation: AAM19736.1 AY093952 mRNA Translation: AAM19737.1 AK093719 mRNA Translation: BAC04220.1 BC004347 mRNA Translation: AAH04347.2 BC013366 mRNA Translation: AAH13366.1 BC015584 mRNA Translation: AAH15584.1 |
CCDSi | CCDS8059.1 [Q86UX7-2] CCDS8060.1 [Q86UX7-1] |
RefSeqi | NP_113659.3, NM_031471.5 [Q86UX7-2] NP_848537.1, NM_178443.2 [Q86UX7-1] XP_011543596.1, XM_011545294.2 XP_016873887.1, XM_017018398.1 |
Genome annotation databases
Ensembli | ENST00000279227; ENSP00000279227; ENSG00000149781 [Q86UX7-1] ENST00000345728; ENSP00000339950; ENSG00000149781 [Q86UX7-2] |
GeneIDi | 83706 |
KEGGi | hsa:83706 |
UCSCi | uc001nyl.3, human [Q86UX7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY093951 mRNA Translation: AAM19736.1 AY093952 mRNA Translation: AAM19737.1 AK093719 mRNA Translation: BAC04220.1 BC004347 mRNA Translation: AAH04347.2 BC013366 mRNA Translation: AAH13366.1 BC015584 mRNA Translation: AAH15584.1 |
CCDSi | CCDS8059.1 [Q86UX7-2] CCDS8060.1 [Q86UX7-1] |
RefSeqi | NP_113659.3, NM_031471.5 [Q86UX7-2] NP_848537.1, NM_178443.2 [Q86UX7-1] XP_011543596.1, XM_011545294.2 XP_016873887.1, XM_017018398.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2YS3 | NMR | - | A | 349-482 | [»] | |
6V97 | X-ray | 2.38 | A/B | 1-667 | [»] | |
6V9G | X-ray | 2.35 | A/B | 1-667 | [»] | |
7C3M | X-ray | 3.60 | A/B/C | 1-667 | [»] | |
SMRi | Q86UX7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123735, 51 interactors |
CORUMi | Q86UX7 |
IntActi | Q86UX7, 39 interactors |
STRINGi | 9606.ENSP00000279227 |
PTM databases
iPTMneti | Q86UX7 |
PhosphoSitePlusi | Q86UX7 |
Genetic variation databases
BioMutai | FERMT3 |
DMDMi | 41018464 |
Proteomic databases
EPDi | Q86UX7 |
jPOSTi | Q86UX7 |
MassIVEi | Q86UX7 |
MaxQBi | Q86UX7 |
PaxDbi | Q86UX7 |
PeptideAtlasi | Q86UX7 |
PRIDEi | Q86UX7 |
ProteomicsDBi | 69932 [Q86UX7-1] 69933 [Q86UX7-2] |
Protocols and materials databases
Antibodypediai | 29146, 262 antibodies |
Genome annotation databases
Ensembli | ENST00000279227; ENSP00000279227; ENSG00000149781 [Q86UX7-1] ENST00000345728; ENSP00000339950; ENSG00000149781 [Q86UX7-2] |
GeneIDi | 83706 |
KEGGi | hsa:83706 |
UCSCi | uc001nyl.3, human [Q86UX7-1] |
Organism-specific databases
CTDi | 83706 |
DisGeNETi | 83706 |
GeneCardsi | FERMT3 |
HGNCi | HGNC:23151, FERMT3 |
HPAi | ENSG00000149781, Tissue enhanced (blood, bone marrow, lymphoid tissue) |
MalaCardsi | FERMT3 |
MIMi | 607901, gene 612840, phenotype |
neXtProti | NX_Q86UX7 |
OpenTargetsi | ENSG00000149781 |
Orphaneti | 99844, Leukocyte adhesion deficiency type III |
PharmGKBi | PA162388384 |
VEuPathDBi | HostDB:ENSG00000149781.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3727, Eukaryota |
GeneTreei | ENSGT00390000013444 |
HOGENOMi | CLU_011611_0_0_1 |
InParanoidi | Q86UX7 |
OMAi | AQINSRW |
OrthoDBi | 248494at2759 |
PhylomeDBi | Q86UX7 |
TreeFami | TF314677 |
Enzyme and pathway databases
PathwayCommonsi | Q86UX7 |
Reactomei | R-HSA-114608, Platelet degranulation |
Miscellaneous databases
BioGRID-ORCSi | 83706, 23 hits in 870 CRISPR screens |
ChiTaRSi | FERMT3, human |
EvolutionaryTracei | Q86UX7 |
GeneWikii | FERMT3 |
GenomeRNAii | 83706 |
Pharosi | Q86UX7, Tbio |
PROi | PR:Q86UX7 |
RNActi | Q86UX7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000149781, Expressed in granulocyte and 161 other tissues |
ExpressionAtlasi | Q86UX7, baseline and differential |
Genevisiblei | Q86UX7, HS |
Family and domain databases
CDDi | cd14473, FERM_B-lobe, 1 hit cd01237, PH_fermitin, 1 hit |
DisProti | DP01784 |
Gene3Di | 2.30.29.30, 2 hits |
InterProi | View protein in InterPro IPR019749, Band_41_domain IPR035963, FERM_2 IPR019748, FERM_central IPR037843, Kindlin/fermitin IPR040790, Kindlin_2_N IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR037837, PH_Kindlin/fermitin |
PANTHERi | PTHR16160, PTHR16160, 1 hit |
Pfami | View protein in Pfam PF00373, FERM_M, 1 hit PF18124, Kindlin_2_N, 1 hit PF00169, PH, 1 hit |
SMARTi | View protein in SMART SM00295, B41, 1 hit SM00233, PH, 1 hit |
SUPFAMi | SSF47031, SSF47031, 2 hits |
PROSITEi | View protein in PROSITE PS00661, FERM_2, 1 hit PS50003, PH_DOMAIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | URP2_HUMAN | |
Accessioni | Q86UX7Primary (citable) accession number: Q86UX7 Secondary accession number(s): Q8IUA1, Q8N207, Q9BT48 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 16, 2004 |
Last sequence update: | June 1, 2003 | |
Last modified: | February 10, 2021 | |
This is version 163 of the entry and version 1 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
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants