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Entry version 150 (08 May 2019)
Sequence version 1 (01 Jun 2003)
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Protein

Fermitin family homolog 3

Gene

FERMT3

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 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

<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>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>Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-114608 Platelet degranulation

<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:
Fermitin family homolog 3
Alternative name(s):
Kindlin-3
MIG2-like protein
Unc-112-related protein 2
<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:FERMT3
Synonyms:KIND3, MIG2B, URP2
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23151 FERMT3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607901 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86UX7

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection

<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

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
<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_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

DisGeNET

More...
DisGeNETi
83706

MalaCards human disease database

More...
MalaCardsi
FERMT3
MIMi612840 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000149781

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

More...
Orphaneti
99844 Leukocyte adhesion deficiency type III

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162388384

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FERMT3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
41018464

<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_00002194541 – 667Fermitin family homolog 3Add BLAST667

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei8PhosphoserineCombined sources1
Modified residuei11PhosphotyrosineCombined sources1
Modified residuei504PhosphotyrosineCombined sources1
Modified residuei591PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q86UX7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q86UX7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q86UX7

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

More...
PaxDbi
Q86UX7

PeptideAtlas

More...
PeptideAtlasi
Q86UX7

PRoteomics IDEntifications database

More...
PRIDEi
Q86UX7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
69932
69933 [Q86UX7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86UX7

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

More...
PhosphoSitePlusi
Q86UX7

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q86UX7

<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

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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000149781 Expressed in 142 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q86UX7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86UX7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA065231

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123735, 39 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q86UX7

Protein interaction database and analysis system

More...
IntActi
Q86UX7, 35 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000279227

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1667
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YS3NMR-A349-482[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q86UX7

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q86UX7

<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_and_domains_section">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>Domaini229 – 558FERMAdd BLAST330
Domaini354 – 457PHPROSITE-ProRule annotationAdd BLAST104

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi147 – 155Poly-Lys9

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.

<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 kindlin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3727 Eukaryota
ENOG410XS1B LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000013444

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231715

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q86UX7

KEGG Orthology (KO)

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KOi
K17084

Identification of Orthologs from Complete Genome Data

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OMAi
HFADSPQ

Database of Orthologous Groups

More...
OrthoDBi
248494at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86UX7

TreeFam database of animal gene trees

More...
TreeFami
TF314677

Family and domain databases

Conserved Domains Database

More...
CDDi
cd14473 FERM_B-lobe, 1 hit
cd01237 PH_fermitin, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.29.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...
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

The PANTHER Classification System

More...
PANTHERi
PTHR16160 PTHR16160, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00373 FERM_M, 1 hit
PF18124 Kindlin_2_N, 1 hit
PF00169 PH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00295 B41, 1 hit
SM00233 PH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47031 SSF47031, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00661 FERM_2, 1 hit
PS50003 PH_DOMAIN, 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>.<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_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.

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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
<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: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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YFT5H0YFT5_HUMAN
Fermitin family homolog 3
FERMT3
184Annotation score:

Annotation score:1 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>
F5H1C6F5H1C6_HUMAN
Fermitin family homolog 3
FERMT3
286Annotation score:

Annotation score:1 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>
F5H3I6F5H3I6_HUMAN
Fermitin family homolog 3
FERMT3
81Annotation score:

Annotation score:1 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 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 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
<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_009226360 – 363Missing in isoform 2. 3 Publications4

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
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS8059.1 [Q86UX7-2]
CCDS8060.1 [Q86UX7-1]

NCBI Reference Sequences

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RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000279227; ENSP00000279227; ENSG00000149781 [Q86UX7-1]
ENST00000345728; ENSP00000339950; ENSG00000149781 [Q86UX7-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
83706

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:83706

UCSC genome browser

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UCSCi
uc001nyl.3 human [Q86UX7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
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]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YS3NMR-A349-482[»]
SMRiQ86UX7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123735, 39 interactors
CORUMiQ86UX7
IntActiQ86UX7, 35 interactors
STRINGi9606.ENSP00000279227

PTM databases

iPTMnetiQ86UX7
PhosphoSitePlusiQ86UX7

Polymorphism and mutation databases

BioMutaiFERMT3
DMDMi41018464

Proteomic databases

EPDiQ86UX7
jPOSTiQ86UX7
MaxQBiQ86UX7
PaxDbiQ86UX7
PeptideAtlasiQ86UX7
PRIDEiQ86UX7
ProteomicsDBi69932
69933 [Q86UX7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
83706
DisGeNETi83706

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FERMT3
HGNCiHGNC:23151 FERMT3
HPAiHPA065231
MalaCardsiFERMT3
MIMi607901 gene
612840 phenotype
neXtProtiNX_Q86UX7
OpenTargetsiENSG00000149781
Orphaneti99844 Leukocyte adhesion deficiency type III
PharmGKBiPA162388384

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3727 Eukaryota
ENOG410XS1B LUCA
GeneTreeiENSGT00390000013444
HOGENOMiHOG000231715
InParanoidiQ86UX7
KOiK17084
OMAiHFADSPQ
OrthoDBi248494at2759
PhylomeDBiQ86UX7
TreeFamiTF314677

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation

Miscellaneous databases

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

More...
ChiTaRSi
FERMT3 human
EvolutionaryTraceiQ86UX7

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
FERMT3

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

More...
GenomeRNAii
83706
PMAP-CutDBiQ86UX7

Protein Ontology

More...
PROi
PR:Q86UX7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000149781 Expressed in 142 organ(s), highest expression level in blood
ExpressionAtlasiQ86UX7 baseline and differential
GenevisibleiQ86UX7 HS

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
IPR040790 Kindlin_2_N
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
PF18124 Kindlin_2_N, 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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiURP2_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: Q86UX7
Secondary accession number(s): Q8IUA1, Q8N207, Q9BT48
<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: January 16, 2004
Last sequence update: June 1, 2003
Last modified: May 8, 2019
This is version 150 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

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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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