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UniProtKB - P23142 (FBLN1_HUMAN)

Entry version 231 (13 Nov 2019)
Sequence version 4 (25 Nov 2008)
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

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 & Seán O’Donoghue; 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P23142

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

The CPTAC Assay portal

More...CPTACi		non-CPTAC-1123

Encyclopedia of Proteome Dynamics

More...EPDi		P23142

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P23142

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		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: a multi-organism proteome resource

More...ProteomicsDBi		2960
54057 [P23142-1]
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

More...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 and FGB.

Interacts with FBLN7 (By similarity).

Interacts with CCN3 (PubMed:9927660).

By similarity1 Publication

(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
Q5TCM94EBI-11956479,EBI-11955689

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108486, 74 interactors

Protein interaction database and analysis system

More...IntActi		P23142, 76 interactors

Molecular INTeraction database

More...MINTi		P23142

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000331544

<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

More...GeneTreei		ENSGT00940000156642

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000007079

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P23142

KEGG Orthology (KO)

More...KOi		K17307

Database of Orthologous Groups

More...OrthoDBi		1174178at2759

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>. 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.

<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 <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
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

Show »
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>
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>
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>
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>
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>
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>
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.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.<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

More...EMBLi

GenBank nucleotide sequence database

More...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

More...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

More...PIRi		C36346

NCBI Reference Sequences

More...RefSeqi		NP_001987.2, NM_001996.3 [P23142-4]
NP_006476.2, NM_006485.3 [P23142-3]
NP_006477.2, NM_006486.2 [P23142-1]
NP_006478.2, NM_006487.2 [P23142-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...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

More...GeneIDi		2192

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2192

UCSC genome browser

More...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 [P23142-4]
NP_006476.2, NM_006485.3 [P23142-3]
NP_006477.2, NM_006486.2 [P23142-1]
NP_006478.2, NM_006487.2 [P23142-2]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi108486, 74 interactors
IntActiP23142, 76 interactors
MINTiP23142
STRINGi9606.ENSP00000331544

PTM databases

GlyConnecti1244
iPTMnetiP23142
PhosphoSitePlusiP23142

Polymorphism and mutation databases

BioMutaiFBLN1
DMDMi215274249

Proteomic databases

CPTACinon-CPTAC-1123
EPDiP23142
jPOSTiP23142
MassIVEiP23142
MaxQBiP23142
PaxDbiP23142
PeptideAtlasiP23142
PRIDEiP23142
ProteomicsDBi2960
54057 [P23142-1]
54058 [P23142-2]
54059 [P23142-3]
54060 [P23142-4]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		2192

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

More...CTDi		2192
DisGeNETi2192

GeneCards: human genes, protein and diseases

More...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
InParanoidiP23142
KOiK17307
OrthoDBi1174178at2759
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
PharosiP23142

Protein Ontology

More...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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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: November 13, 2019
This is version 231 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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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