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UniProtKB - Q86UX7 (URP2_HUMAN)

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Protein

Fermitin family homolog 3

Gene

FERMT3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • 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
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation

Names & Taxonomyi

Protein namesi
Recommended name:
Fermitin family homolog 3
Alternative name(s):
Kindlin-3
MIG2-like protein
Unc-112-related protein 2
Gene namesi
Name:FERMT3
Synonyms:KIND3, MIG2B, URP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000149781.12
HGNCiHGNC:23151 FERMT3
MIMi607901 gene
neXtProtiNX_Q86UX7

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection

Pathology & Biotechi

Involvement in diseasei

Leukocyte adhesion deficiency 3 (LAD3)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.
See also OMIM:612840
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074597599Q → S in LAD3; unknown pathological significance; decreases cell adhesion in hematopoietic cells; requires 2 nucleotide substitutions. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi83706
MalaCardsiFERMT3
MIMi612840 phenotype
OpenTargetsiENSG00000149781
Orphaneti99844 Leukocyte adhesion deficiency type III
PharmGKBiPA162388384

Polymorphism and mutation databases

BioMutaiFERMT3
DMDMi41018464

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002194541 – 667Fermitin family homolog 3Add BLAST667

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8PhosphoserineCombined sources1
Modified residuei11PhosphotyrosineCombined sources1
Modified residuei504PhosphotyrosineCombined sources1
Modified residuei591PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86UX7
MaxQBiQ86UX7
PaxDbiQ86UX7
PeptideAtlasiQ86UX7
PRIDEiQ86UX7
ProteomicsDBi69932
69933 [Q86UX7-2]

PTM databases

iPTMnetiQ86UX7
PhosphoSitePlusiQ86UX7

Miscellaneous databases

PMAP-CutDBiQ86UX7

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

BgeeiENSG00000149781
CleanExiHS_FERMT3
ExpressionAtlasiQ86UX7 baseline and differential
GenevisibleiQ86UX7 HS

Organism-specific databases

HPAiHPA065231

Interactioni

Subunit structurei

Interacts with ITGB1, ITGB2 and ITGB3 (via cytoplasmic tails).By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi123735, 38 interactors
IntActiQ86UX7, 34 interactors
STRINGi9606.ENSP00000279227

Structurei

Secondary structure

1667
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi370 – 373Combined sources4
Beta strandi377 – 380Combined sources4
Beta strandi385 – 390Combined sources6
Turni391 – 395Combined sources5
Turni404 – 406Combined sources3
Beta strandi408 – 411Combined sources4
Helixi415 – 417Combined sources3
Beta strandi419 – 427Combined sources9
Beta strandi429 – 441Combined sources13
Helixi442 – 456Combined sources15
Helixi465 – 480Combined sources16

3D structure databases

ProteinModelPortaliQ86UX7
SMRiQ86UX7
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ86UX7

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini229 – 558FERMAdd BLAST330
Domaini354 – 457PHPROSITE-ProRule annotationAdd BLAST104

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi147 – 155Poly-Lys9

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

eggNOGiKOG3727 Eukaryota
ENOG410XS1B LUCA
GeneTreeiENSGT00390000013444
HOGENOMiHOG000231715
HOVERGENiHBG020688
InParanoidiQ86UX7
KOiK17084
OMAiHFADSPQ
OrthoDBiEOG091G03SD
PhylomeDBiQ86UX7
TreeFamiTF314677

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
cd01237 PH_fermitin, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR035963 FERM_2
IPR019748 FERM_central
IPR037843 Kindlin/fermitin
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR037837 PH_Kindlin/fermitin
PANTHERiPTHR16160 PTHR16160, 1 hit
PfamiView protein in Pfam
PF00373 FERM_M, 1 hit
PF00169 PH, 1 hit
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM00233 PH, 1 hit
SUPFAMiSSF47031 SSF47031, 2 hits
PROSITEiView protein in PROSITE
PS00661 FERM_2, 1 hit
PS50003 PH_DOMAIN, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86UX7-1) [UniParc]FASTAAdd to basket
Also known as: Long, URP2LF

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.

« Hide

        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
Length:667
Mass (Da):75,953
Last modified:June 1, 2003 - v1
Checksum:i5ACE15EB689B91B5
GO
Isoform 2 (identifier: Q86UX7-2) [UniParc]FASTAAdd to basket
Also known as: Short, URP2SF

The sequence of this isoform differs from the canonical sequence as follows:
     360-363: Missing.

Show »
Length:663
Mass (Da):75,430
Checksum:i243CA27636C67079
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti472A → P in BAC04220 (PubMed:14702039).Curated1
Sequence conflicti480Q → R in BAC04220 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074597599Q → S in LAD3; unknown pathological significance; decreases cell adhesion in hematopoietic cells; requires 2 nucleotide substitutions. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009226360 – 363Missing in isoform 2. 3 Publications4

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
CCDSiCCDS8059.1 [Q86UX7-2]
CCDS8060.1 [Q86UX7-1]
RefSeqiNP_113659.3, NM_031471.5 [Q86UX7-2]
NP_848537.1, NM_178443.2 [Q86UX7-1]
XP_011543596.1, XM_011545294.2 [Q86UX7-1]
XP_016873887.1, XM_017018398.1 [Q86UX7-2]
UniGeneiHs.180535

Genome annotation databases

EnsembliENST00000279227; ENSP00000279227; ENSG00000149781 [Q86UX7-1]
ENST00000345728; ENSP00000339950; ENSG00000149781 [Q86UX7-2]
GeneIDi83706
KEGGihsa:83706
UCSCiuc001nyl.3 human [Q86UX7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiURP2_HUMAN
AccessioniPrimary (citable) accession number: Q86UX7
Secondary accession number(s): Q8IUA1, Q8N207, Q9BT48
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: June 1, 2003
Last modified: July 18, 2018
This is version 145 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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