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Entry version 178 (18 Sep 2019)
Sequence version 1 (01 Jun 2001)
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Protein

Fermitin family homolog 1

Gene

FERMT1

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

Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression.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

<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 1
Alternative name(s):
Kindlerin
Kindlin syndrome protein
Kindlin-1
Unc-112-related protein 1
<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:FERMT1
Synonyms:C20orf42, KIND1, URP1
<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 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15889 FERMT1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607900 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BQL6

<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 membrane, Cell projection, Cytoplasm, Cytoskeleton, 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

Kindler syndrome (KNDLRS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss of FERMT1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications (PubMed:21936020).1 Publication
Disease descriptionAn autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy.
Related information in OMIM
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_066942100Missing in KNDLRS. 1 Publication1
Natural variantiVAR_066943400S → P in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312718EnsemblClinVar.1
Natural variantiVAR_066944559W → R in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312719EnsemblClinVar.1
Natural variantiVAR_066945623Missing in KNDLRS. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55612

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
FERMT1

MalaCards human disease database

More...
MalaCardsi
FERMT1
MIMi173650 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000101311

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

More...
Orphaneti
2908 Kindler syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162388314

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FERMT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
26392456

<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_00002194521 – 677Fermitin family homolog 1Add BLAST677

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 residuei170PhosphoserineCombined sources1
Modified residuei179PhosphoserineCombined sources1
Modified residuei361PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9BQL6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BQL6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9BQL6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BQL6

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

More...
PaxDbi
Q9BQL6

PeptideAtlas

More...
PeptideAtlasi
Q9BQL6

PRoteomics IDEntifications database

More...
PRIDEi
Q9BQL6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
78697 [Q9BQL6-1]
78698 [Q9BQL6-2]
78699 [Q9BQL6-3]
78700 [Q9BQL6-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BQL6

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

More...
PhosphoSitePlusi
Q9BQL6

<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 brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes. Overexpressed in some colon and lung tumors. In skin, it is localized within the epidermis and particularly in basal keratocytes. Not detected in epidermal melanocytes and dermal fibroblasts.5 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By TGFB1.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000101311 Expressed in 181 organ(s), highest expression level in mucosa of sigmoid colon

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BQL6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BQL6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039778
HPA041966

<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 the cytoplasmic domain of integrins ITGB1 and ITGB3.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120752, 19 interactors

Protein interaction database and analysis system

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IntActi
Q9BQL6, 11 interactors

Molecular INTeraction database

More...
MINTi
Q9BQL6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000217289

<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

3D structure databases

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

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SMRi
Q9BQL6

Database of comparative protein structure models

More...
ModBasei
Search...

<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>Domaini96 – 653FERMAdd BLAST558
Domaini377 – 473PHPROSITE-ProRule annotationAdd BLAST97

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 – 154Poly-Lys8

<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. The FERM domain contains the subdomains F1, F2 and F3. It is preceded by a F0 domain with a ubiquitin-like fold. The F0 domain is required for integrin activation and for localization at focal adhesions.1 Publication

<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

More...
InParanoidi
Q9BQL6

KEGG Orthology (KO)

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KOi
K17082

Identification of Orthologs from Complete Genome Data

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OMAi
FLRMKNR

Database of Orthologous Groups

More...
OrthoDBi
333292at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BQL6

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, 1 hit

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>. 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 (4+)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 4 <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 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BQL6-1) [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
MLSSTDFTFA SWELVVRVDH PNEEQQKDVT LRVSGDLHVG GVMLKLVEQI
60 70 80 90 100
NISQDWSDFA LWWEQKHCWL LKTHWTLDKY GVQADAKLLF TPQHKMLRLR
110 120 130 140 150
LPNLKMVRLR VSFSAVVFKA VSDICKILNI RRSEELSLLK PSGDYFKKKK
160 170 180 190 200
KKDKNNKEPI IEDILNLESS PTASGSSVSP GLYSKTMTPI YDPINGTPAS
210 220 230 240 250
STMTWFSDSP LTEQNCSILA FSQPPQSPEA LADMYQPRSL VDKAKLNAGW
260 270 280 290 300
LDSSRSLMEQ GIQEDEQLLL RFKYYSFFDL NPKYDAVRIN QLYEQARWAI
310 320 330 340 350
LLEEIDCTEE EMLIFAALQY HISKLSLSAE TQDFAGESEV DEIEAALSNL
360 370 380 390 400
EVTLEGGKAD SLLEDITDIP KLADNLKLFR PKKLLPKAFK QYWFIFKDTS
410 420 430 440 450
IAYFKNKELE QGEPLEKLNL RGCEVVPDVN VAGRKFGIKL LIPVADGMNE
460 470 480 490 500
MYLRCDHENQ YAQWMAACML ASKGKTMADS SYQPEVLNIL SFLRMKNRNS
510 520 530 540 550
ASQVASSLEN MDMNPECFVS PRCAKRHKSK QLAARILEAH QNVAQMPLVE
560 570 580 590 600
AKLRFIQAWQ SLPEFGLTYY LVRFKGSKKD DILGVSYNRL IKIDAATGIP
610 620 630 640 650
VTTWRFTNIK QWNVNWETRQ VVIEFDQNVF TAFTCLSADC KIVHEYIGGY
660 670
IFLSTRSKDQ NETLDEDLFH KLTGGQD
Length:677
Mass (Da):77,437
Last modified:June 1, 2001 - 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:i7354DCD84C516F90
GO
Isoform 2 (identifier: Q9BQL6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-554: QNVAQMPLVEAKLR → LQAPFHSYRSLSHL
     555-677: Missing.

Show »
Length:554
Mass (Da):63,235
Checksum:i51FE18BC2DFE0542
GO
Isoform 3 (identifier: Q9BQL6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-447: Missing.

Show »
Length:230
Mass (Da):26,498
Checksum:i90D6CC89DBCA8BC6
GO
Isoform 4 (identifier: Q9BQL6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     458-495: ENQYAQWMAA...VLNILSFLRM → VSKTPKILSH...ALLCHSAIAL
     496-677: Missing.

Note: No experimental confirmation available.
Show »
Length:495
Mass (Da):56,516
Checksum:i2DD52A11D0630636
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V1L6G3V1L6_HUMAN
Chromosome 20 open reading frame 42...
FERMT1 C20orf42, hCG_1811061
420Annotation 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>
Q5JWV4Q5JWV4_HUMAN
Fermitin family homolog 1
FERMT1
146Annotation 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>

<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 BAA91358 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC03826 differs from that shown. Reason: Erroneous initiation.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 conflicti117V → A in BAC03826 (PubMed:11780052).Curated1
Sequence conflicti262I → T in BAC03826 (PubMed:11780052).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066942100Missing in KNDLRS. 1 Publication1
Natural variantiVAR_048368160I → T. Corresponds to variant dbSNP:rs16991866EnsemblClinVar.1
Natural variantiVAR_061035241V → A. Corresponds to variant dbSNP:rs55666319EnsemblClinVar.1
Natural variantiVAR_066943400S → P in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312718EnsemblClinVar.1
Natural variantiVAR_014398526R → K2 PublicationsCorresponds to variant dbSNP:rs2232074EnsemblClinVar.1
Natural variantiVAR_014399534A → T. Corresponds to variant dbSNP:rs2232078EnsemblClinVar.1
Natural variantiVAR_066944559W → R in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312719EnsemblClinVar.1
Natural variantiVAR_066945623Missing in KNDLRS. 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_0038091 – 447Missing in isoform 3. 1 PublicationAdd BLAST447
Alternative sequenceiVSP_009224458 – 495ENQYA…SFLRM → VSKTPKILSHFTSTKPKSKT QKCFHKFRALLCHSAIAL in isoform 4. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_009225496 – 677Missing in isoform 4. 1 PublicationAdd BLAST182
Alternative sequenceiVSP_003810541 – 554QNVAQ…EAKLR → LQAPFHSYRSLSHL in isoform 2. CuratedAdd BLAST14
Alternative sequenceiVSP_003811555 – 677Missing in isoform 2. CuratedAdd BLAST123

Sequence databases

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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

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DDBJi
Links Updated
AF443278 mRNA Translation: AAN75822.1
AY137240 mRNA Translation: AAM94174.1
AK000123 mRNA Translation: BAA90957.1
AK000747 mRNA Translation: BAA91358.1 Different initiation.
AK092195 mRNA Translation: BAC03826.1 Different initiation.
AL118505 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10392.1
CH471133 Genomic DNA Translation: EAX10393.1
BC035882 mRNA Translation: AAH35882.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13098.1 [Q9BQL6-1]

NCBI Reference Sequences

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RefSeqi
NP_060141.3, NM_017671.4 [Q9BQL6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000217289; ENSP00000217289; ENSG00000101311 [Q9BQL6-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55612

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55612

UCSC genome browser

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UCSCi
uc002wmr.3 human [Q9BQL6-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AF443278 mRNA Translation: AAN75822.1
AY137240 mRNA Translation: AAM94174.1
AK000123 mRNA Translation: BAA90957.1
AK000747 mRNA Translation: BAA91358.1 Different initiation.
AK092195 mRNA Translation: BAC03826.1 Different initiation.
AL118505 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10392.1
CH471133 Genomic DNA Translation: EAX10393.1
BC035882 mRNA Translation: AAH35882.1
CCDSiCCDS13098.1 [Q9BQL6-1]
RefSeqiNP_060141.3, NM_017671.4 [Q9BQL6-1]

3D structure databases

SMRiQ9BQL6
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120752, 19 interactors
IntActiQ9BQL6, 11 interactors
MINTiQ9BQL6
STRINGi9606.ENSP00000217289

PTM databases

iPTMnetiQ9BQL6
PhosphoSitePlusiQ9BQL6

Polymorphism and mutation databases

BioMutaiFERMT1
DMDMi26392456

Proteomic databases

EPDiQ9BQL6
jPOSTiQ9BQL6
MassIVEiQ9BQL6
MaxQBiQ9BQL6
PaxDbiQ9BQL6
PeptideAtlasiQ9BQL6
PRIDEiQ9BQL6
ProteomicsDBi78697 [Q9BQL6-1]
78698 [Q9BQL6-2]
78699 [Q9BQL6-3]
78700 [Q9BQL6-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000217289; ENSP00000217289; ENSG00000101311 [Q9BQL6-1]
GeneIDi55612
KEGGihsa:55612
UCSCiuc002wmr.3 human [Q9BQL6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55612
DisGeNETi55612

GeneCards: human genes, protein and diseases

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GeneCardsi
FERMT1
GeneReviewsiFERMT1
HGNCiHGNC:15889 FERMT1
HPAiHPA039778
HPA041966
MalaCardsiFERMT1
MIMi173650 phenotype
607900 gene
neXtProtiNX_Q9BQL6
OpenTargetsiENSG00000101311
Orphaneti2908 Kindler syndrome
PharmGKBiPA162388314

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3727 Eukaryota
ENOG410XS1B LUCA
GeneTreeiENSGT00390000013444
HOGENOMiHOG000231715
InParanoidiQ9BQL6
KOiK17082
OMAiFLRMKNR
OrthoDBi333292at2759
PhylomeDBiQ9BQL6
TreeFamiTF314677

Miscellaneous databases

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

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ChiTaRSi
FERMT1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
C20orf42

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

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GenomeRNAii
55612

Pharos

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Pharosi
Q9BQL6

Protein Ontology

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PROi
PR:Q9BQL6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101311 Expressed in 181 organ(s), highest expression level in mucosa of sigmoid colon
ExpressionAtlasiQ9BQL6 baseline and differential
GenevisibleiQ9BQL6 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, 1 hit
PROSITEiView protein in PROSITE
PS00661 FERM_2, 1 hit
PS50003 PH_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiFERM1_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: Q9BQL6
Secondary accession number(s): D3DW10
, Q8IX34, Q8IYH2, Q9NWM2, Q9NXQ3
<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: December 6, 2002
Last sequence update: June 1, 2001
Last modified: September 18, 2019
This is version 178 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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