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Protein

Fibulin-1

Gene

FBLN1

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

Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP.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 processHost-virus interaction
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2129379 Molecules associated with elastic fibres

<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:
Fibulin-1
Short name:
FIBL-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:FBLN1
ORF Names:PP213
<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 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000077942.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3600 FBLN1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
135820 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P23142

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<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

A chromosomal aberration involving FBLN1 is found in a complex type of synpolydactyly referred to as 3/3-prime/4 synpolydactyly associated with metacarpal and metatarsal synostoses. Reciprocal translocation t(12;22)(p11.2;q13.3) with RASSF8. Fibroblasts derived from a patient with synpolydactyly displayed alterations in the level of isoform D splice variant incorporated into the ECM and secreted into the conditioned culture medium. By contrast, the expression of isoform C was not perturbed in the patients fibroblasts. Furthermore, no aberrant polypeptides were detected in extracts of cultured patients fibroblasts. The translocation t(12;22) may result in haploinsufficiency of the isoform D splice variant, which could lead to the observed limb malformation.1 Publication
Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer.1 Publication

Organism-specific databases

DisGeNET

More...
DisGeNETi
2192

MalaCards human disease database

More...
MalaCardsi
FBLN1
MIMi608180 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000077942

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

More...
Orphaneti
404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
295197 Synpolydactyly type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28013

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FBLN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215274249

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 291 PublicationAdd BLAST29
<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_000000756330 – 703Fibulin-1Add BLAST674

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi36 ↔ 61By similarity
Disulfide bondi37 ↔ 68By similarity
Disulfide bondi50 ↔ 69By similarity
Disulfide bondi78 ↔ 109By similarity
Disulfide bondi91 ↔ 110By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi98N-linked (GlcNAc...) (complex) asparagine1 Publication1
Disulfide bondi112 ↔ 136By similarity
Disulfide bondi113 ↔ 143By similarity
Disulfide bondi126 ↔ 144By similarity
Disulfide bondi180 ↔ 190By similarity
Disulfide bondi186 ↔ 199By similarity
Disulfide bondi201 ↔ 214By similarity
Disulfide bondi220 ↔ 233By similarity
Disulfide bondi227 ↔ 242By similarity
Disulfide bondi248 ↔ 260By similarity
Disulfide bondi266 ↔ 279By similarity
Disulfide bondi273 ↔ 288By similarity
Disulfide bondi294 ↔ 306By similarity
Disulfide bondi312 ↔ 325By similarity
Disulfide bondi319 ↔ 334By similarity
Disulfide bondi341 ↔ 354By similarity
Disulfide bondi360 ↔ 373By similarity
Disulfide bondi367 ↔ 382By similarity
Disulfide bondi384 ↔ 397By similarity
Disulfide bondi403 ↔ 415By similarity
Disulfide bondi411 ↔ 424By similarity
Disulfide bondi426 ↔ 439By similarity
Disulfide bondi445 ↔ 454By similarity
Disulfide bondi450 ↔ 463By similarity
Disulfide bondi465 ↔ 479By similarity
Disulfide bondi485 ↔ 498By similarity
Disulfide bondi494 ↔ 507By similarity
Disulfide bondi509 ↔ 523By similarity
Disulfide bondi529 ↔ 542By similarity
Glycosylationi535N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi536 ↔ 551By similarity
Glycosylationi539N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi556 ↔ 577By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P23142

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P23142

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

More...
PaxDbi
P23142

PeptideAtlas

More...
PeptideAtlasi
P23142

PRoteomics IDEntifications database

More...
PRIDEi
P23142

ProteomicsDB human proteome resource

More...
ProteomicsDBi
54057
54058 [P23142-2]
54059 [P23142-3]
54060 [P23142-4]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1244

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P23142

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

More...
PhosphoSitePlusi
P23142

<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

Isoform A and isoform B are only expressed in placenta. Isoform C and isoform D are expressed in a variety of tissues and cultured cells.1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Widely expressed during embryonic development. Prominent in the matrix of the leptomeningeal anlage, in basement membranes of the neuroepithelium and the perineurium of peripheral nerves. In embryos of gestational week (gw) 4, staining was observed in the early mesenchymal bone anlagen. In gw 6.5 and 8, all perichondrial structures showed expression but the chondrocytes themselves showed no staining. In gw 10, expression is prominent in the interterritorial matrix surrounding the hypertrophic chondrocytes.1 Publication

<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

Expression increased by estrogen in ovarian cancer cells.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000077942 Expressed in 217 organ(s), highest expression level in endocervix

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P23142 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P23142 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB004393
CAB068187
HPA001612
HPA001613

<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

Homomultimerizes and interacts with various extracellular matrix components such as FN1, LAMA1, LAMA2, NID, ACAN, CSPG2 and type IV collagen. Interacts also with APP, NOV and FGB. Interacts with FBLN7 (By similarity).By similarity
(Microbial infection) Interacts with human papillomavirus/HPV type 16, 18 and 31 proteins E6.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
LCE5AQ5TCM94EBI-11956479,EBI-11955689

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108486, 72 interactors

Protein interaction database and analysis system

More...
IntActi
P23142, 55 interactors

Molecular INTeraction database

More...
MINTi
P23142

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000331544

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P23142

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

More...
SMRi
P23142

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>Domaini36 – 76Anaphylatoxin-like 1PROSITE-ProRule annotationAdd BLAST41
Domaini77 – 111Anaphylatoxin-like 2PROSITE-ProRule annotationAdd BLAST35
Domaini112 – 144Anaphylatoxin-like 3PROSITE-ProRule annotationAdd BLAST33
Domaini176 – 215EGF-like 1PROSITE-ProRule annotationAdd BLAST40
Domaini216 – 261EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST46
Domaini262 – 307EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST46
Domaini308 – 355EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST48
Domaini356 – 398EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini399 – 440EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini441 – 480EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini481 – 524EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST44
Domaini525 – 578EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd BLAST54

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni356 – 440Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic bindingAdd BLAST85

<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 fibulin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR7F Eukaryota
ENOG410Y194 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156642

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007079

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051559

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P23142

KEGG Orthology (KO)

More...
KOi
K17307

Identification of Orthologs from Complete Genome Data

More...
OMAi
CHENQEC

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P23142

TreeFam database of animal gene trees

More...
TreeFami
TF317514

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00017 ANATO, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000020 Anaphylatoxin/fibulin
IPR026823 cEGF
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR017048 Fibulin-1
IPR009030 Growth_fac_rcpt_cys_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12662 cEGF, 3 hits
PF07645 EGF_CA, 4 hits

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF036313 Fibulin-1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00104 ANATO, 3 hits
SM00181 EGF, 9 hits
SM00179 EGF_CA, 8 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57184 SSF57184, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01177 ANAPHYLATOXIN_1, 3 hits
PS01178 ANAPHYLATOXIN_2, 3 hits
PS00010 ASX_HYDROXYL, 4 hits
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 8 hits

<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 (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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform D (identifier: P23142-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MERAAPSRRV PLPLLLLGGL ALLAAGVDAD VLLEACCADG HRMATHQKDC
60 70 80 90 100
SLPYATESKE CRMVQEQCCH SQLEELHCAT GISLANEQDR CATPHGDNAS
110 120 130 140 150
LEATFVKRCC HCCLLGRAAQ AQGQSCEYSL MVGYQCGQVF QACCVKSQET
160 170 180 190 200
GDLDVGGLQE TDKIIEVEEE QEDPYLNDRC RGGGPCKQQC RDTGDEVVCS
210 220 230 240 250
CFVGYQLLSD GVSCEDVNEC ITGSHSCRLG ESCINTVGSF RCQRDSSCGT
260 270 280 290 300
GYELTEDNSC KDIDECESGI HNCLPDFICQ NTLGSFRCRP KLQCKSGFIQ
310 320 330 340 350
DALGNCIDIN ECLSISAPCP IGHTCINTEG SYTCQKNVPN CGRGYHLNEE
360 370 380 390 400
GTRCVDVDEC APPAEPCGKG HRCVNSPGSF RCECKTGYYF DGISRMCVDV
410 420 430 440 450
NECQRYPGRL CGHKCENTLG SYLCSCSVGF RLSVDGRSCE DINECSSSPC
460 470 480 490 500
SQECANVYGS YQCYCRRGYQ LSDVDGVTCE DIDECALPTG GHICSYRCIN
510 520 530 540 550
IPGSFQCSCP SSGYRLAPNG RNCQDIDECV TGIHNCSINE TCFNIQGGFR
560 570 580 590 600
CLAFECPENY RRSAATLQQE KTDTVRCIKS CRPNDVTCVF DPVHTISHTV
610 620 630 640 650
ISLPTFREFT RPEEIIFLRA ITPPHPASQA NIIFDITEGN LRDSFDIIKR
660 670 680 690 700
YMDGMTVGVV RQVRPIVGPF HAVLKLEMNY VVGGVVSHRN VVNVHIFVSE

YWF
Length:703
Mass (Da):77,214
Last modified:November 25, 2008 - v4
<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:i302F7ED2DF34CA71
GO
Isoform A (identifier: P23142-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     567-703: Missing.

Show »
Length:566
Mass (Da):61,552
Checksum:i2F8AAA8886D2A1C0
GO
Isoform B (identifier: P23142-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     567-703: LQQEKTDTVR...VHIFVSEYWF → QKSKKGRQNTPAGSSKEDCRVLPWKQGLEDTHLDA

Show »
Length:601
Mass (Da):65,443
Checksum:i2203FEF959DB3925
GO
Isoform C (identifier: P23142-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     567-703: LQQEKTDTVR...VHIFVSEYWF → RCERLPCHEN...KLFIFVSAEL

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Length:683
Mass (Da):74,434
Checksum:iB6B9ED49F590F612
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AHL2B1AHL2_HUMAN
Fibulin-1
FBLN1
721Annotation score:

Annotation score:2 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>
B1AHN3B1AHN3_HUMAN
Fibulin-1
FBLN1
172Annotation 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>
H7C1M6H7C1M6_HUMAN
Fibulin-1
FBLN1
183Annotation 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>
B1AHM8B1AHM8_HUMAN
Fibulin-1
FBLN1
181Annotation 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>
B1AHM9B1AHM9_HUMAN
Fibulin-1
FBLN1
189Annotation 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>
B1AHM7B1AHM7_HUMAN
Fibulin-1
FBLN1
139Annotation 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>
B1AHM6B1AHM6_HUMAN
Fibulin-1
FBLN1
65Annotation 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>
B1AHM5B1AHM5_HUMAN
Fibulin-1
FBLN1
92Annotation 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>
A0A0U1RRA4A0A0U1RRA4_HUMAN
Fibulin-1
FBLN1
60Annotation 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 AAG17241 differs from that shown. Reason: Frameshift at positions 116, 619 and 639.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 conflicti13P → Q in AAH22497 (PubMed:15489334).Curated1
Sequence conflicti36C → S AA sequence (PubMed:2527614).Curated1
Sequence conflicti41 – 42HR → SH AA sequence (PubMed:2527614).Curated2
Sequence conflicti521R → S in AAH22497 (PubMed:15489334).Curated1
Sequence conflicti548G → A in CAA37770 (PubMed:2269669).Curated1
Sequence conflicti548G → A in CAA37771 (PubMed:2269669).Curated1
Sequence conflicti548G → A in CAA37772 (PubMed:2269669).Curated1
Sequence conflicti548G → A in AAB17099 (PubMed:9106159).Curated1
Sequence conflicti548G → A in AAK37822 (PubMed:10318851).Curated1
Isoform C (identifier: P23142-4)
Sequence conflicti650E → K in AAG17241 (PubMed:15498874).1
Sequence conflicti662L → F in AAG17241 (PubMed:15498874).1
Sequence conflicti680 – 682SAE → FAK in AAG17241 (PubMed:15498874).3

Natural variant

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_015650141Q → R5 PublicationsCorresponds to variant dbSNP:rs136730Ensembl.1
Natural variantiVAR_072739397C → F Found in a family with syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397509432EnsemblClinVar.1
Natural variantiVAR_055720509C → S. Corresponds to variant dbSNP:rs1802787Ensembl.1
Natural variantiVAR_055721695H → R1 PublicationCorresponds to variant dbSNP:rs13268Ensembl.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001383567 – 703Missing in isoform A. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_001384567 – 703LQQEK…SEYWF → QKSKKGRQNTPAGSSKEDCR VLPWKQGLEDTHLDA in isoform B. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_001385567 – 703LQQEK…SEYWF → RCERLPCHENRECSKLPLRI TYYHLSFPTNIQAPAVVFRM GPSSAVPGDSMQLAITGGNE EGFFTTRKVSPHSGVVALTK PVPEPRDLLLTVKMDLSRHG TVSSFVAKLFIFVSAEL in isoform C. 3 PublicationsAdd BLAST137

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
X53741 mRNA Translation: CAA37770.1
X53742 mRNA Translation: CAA37771.1
X53743 mRNA Translation: CAA37772.1
U01244 mRNA Translation: AAB17099.1
AF126110 mRNA Translation: AAK37822.1
AF217999 mRNA Translation: AAG17241.1 Frameshift.
AL021391 Genomic DNA No translation available.
Z95331 Genomic DNA No translation available.
Z98047 Genomic DNA No translation available.
BC022497 mRNA Translation: AAH22497.1
AY040589 Genomic DNA Translation: AAK82945.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14067.1 [P23142-1]
CCDS14068.1 [P23142-3]
CCDS14069.1 [P23142-4]
CCDS43028.1 [P23142-2]

Protein sequence database of the Protein Information Resource

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PIRi
C36346

NCBI Reference Sequences

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RefSeqi
NP_001987.2, NM_001996.3
NP_006476.2, NM_006485.3
NP_006477.2, NM_006486.2
NP_006478.2, NM_006487.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.24601

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262722; ENSP00000262722; ENSG00000077942 [P23142-4]
ENST00000327858; ENSP00000331544; ENSG00000077942 [P23142-1]
ENST00000340923; ENSP00000342212; ENSG00000077942 [P23142-2]
ENST00000442170; ENSP00000393812; ENSG00000077942 [P23142-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2192

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2192

UCSC genome browser

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UCSCi
uc003bgg.2 human [P23142-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X53741 mRNA Translation: CAA37770.1
X53742 mRNA Translation: CAA37771.1
X53743 mRNA Translation: CAA37772.1
U01244 mRNA Translation: AAB17099.1
AF126110 mRNA Translation: AAK37822.1
AF217999 mRNA Translation: AAG17241.1 Frameshift.
AL021391 Genomic DNA No translation available.
Z95331 Genomic DNA No translation available.
Z98047 Genomic DNA No translation available.
BC022497 mRNA Translation: AAH22497.1
AY040589 Genomic DNA Translation: AAK82945.1
CCDSiCCDS14067.1 [P23142-1]
CCDS14068.1 [P23142-3]
CCDS14069.1 [P23142-4]
CCDS43028.1 [P23142-2]
PIRiC36346
RefSeqiNP_001987.2, NM_001996.3
NP_006476.2, NM_006485.3
NP_006477.2, NM_006486.2
NP_006478.2, NM_006487.2
UniGeneiHs.24601

3D structure databases

ProteinModelPortaliP23142
SMRiP23142
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108486, 72 interactors
IntActiP23142, 55 interactors
MINTiP23142
STRINGi9606.ENSP00000331544

PTM databases

GlyConnecti1244
iPTMnetiP23142
PhosphoSitePlusiP23142

Polymorphism and mutation databases

BioMutaiFBLN1
DMDMi215274249

Proteomic databases

EPDiP23142
MaxQBiP23142
PaxDbiP23142
PeptideAtlasiP23142
PRIDEiP23142
ProteomicsDBi54057
54058 [P23142-2]
54059 [P23142-3]
54060 [P23142-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2192
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262722; ENSP00000262722; ENSG00000077942 [P23142-4]
ENST00000327858; ENSP00000331544; ENSG00000077942 [P23142-1]
ENST00000340923; ENSP00000342212; ENSG00000077942 [P23142-2]
ENST00000442170; ENSP00000393812; ENSG00000077942 [P23142-3]
GeneIDi2192
KEGGihsa:2192
UCSCiuc003bgg.2 human [P23142-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2192
DisGeNETi2192
EuPathDBiHostDB:ENSG00000077942.18

GeneCards: human genes, protein and diseases

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GeneCardsi
FBLN1
HGNCiHGNC:3600 FBLN1
HPAiCAB004393
CAB068187
HPA001612
HPA001613
MalaCardsiFBLN1
MIMi135820 gene
608180 phenotype
neXtProtiNX_P23142
OpenTargetsiENSG00000077942
Orphaneti404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
295197 Synpolydactyly type 2
PharmGKBiPA28013

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR7F Eukaryota
ENOG410Y194 LUCA
GeneTreeiENSGT00940000156642
HOGENOMiHOG000007079
HOVERGENiHBG051559
InParanoidiP23142
KOiK17307
OMAiCHENQEC
PhylomeDBiP23142
TreeFamiTF317514

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres

Miscellaneous databases

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

More...
ChiTaRSi
FBLN1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
FBLN1

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

More...
GenomeRNAii
2192

Protein Ontology

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PROi
PR:P23142

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000077942 Expressed in 217 organ(s), highest expression level in endocervix
ExpressionAtlasiP23142 baseline and differential
GenevisibleiP23142 HS

Family and domain databases

CDDicd00017 ANATO, 2 hits
InterProiView protein in InterPro
IPR000020 Anaphylatoxin/fibulin
IPR026823 cEGF
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR017048 Fibulin-1
IPR009030 Growth_fac_rcpt_cys_sf
PfamiView protein in Pfam
PF12662 cEGF, 3 hits
PF07645 EGF_CA, 4 hits
PIRSFiPIRSF036313 Fibulin-1, 1 hit
SMARTiView protein in SMART
SM00104 ANATO, 3 hits
SM00181 EGF, 9 hits
SM00179 EGF_CA, 8 hits
SUPFAMiSSF57184 SSF57184, 2 hits
PROSITEiView protein in PROSITE
PS01177 ANAPHYLATOXIN_1, 3 hits
PS01178 ANAPHYLATOXIN_2, 3 hits
PS00010 ASX_HYDROXYL, 4 hits
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 8 hits

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiFBLN1_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: P23142
Secondary accession number(s): B0QY42
, B1AHL4, P23143, P23144, P37888, Q5TIC4, Q8TBH8, Q9HBQ5, Q9UC21, Q9UGR4, Q9UH41
<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: November 1, 1991
Last sequence update: November 25, 2008
Last modified: December 5, 2018
This is version 224 of the entry and version 4 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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