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Protein

FRAS1-related extracellular matrix protein 1

Gene

FREM1

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

Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.By similarity

Miscellaneous

Was termed QBRICK because it contains 12 repeats: 'Q' stands for queen and is taken from the queen being the 12th in a suit of playing card, and 'BRICK' stands for the repeating unit.

<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

  • cell communication Source: InterPro
  • cell-matrix adhesion Source: Ensembl
  • craniofacial suture morphogenesis Source: UniProtKB

<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

Molecular functionDevelopmental protein
Biological processCell adhesion
LigandCalcium, Lectin, Metal-binding

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q5H8C1

<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:
FRAS1-related extracellular matrix protein 1Curated
Alternative name(s):
Protein QBRICK
<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:FREM1Imported
Synonyms:C9orf143, C9orf145, C9orf154
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000164946.19

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23399 FREM1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608944 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q5H8C1

<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

Basement membrane, 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

Bifid nose, with or without anorectal and renal anomalies (BNAR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
See also OMIM:608980
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_063422649R → W in BNAR. 1 PublicationCorresponds to variant dbSNP:rs121912609EnsemblClinVar.1
Natural variantiVAR_0634231440G → S in BNAR. 1 PublicationCorresponds to variant dbSNP:rs121912610EnsemblClinVar.1
Manitoba oculotrichoanal syndrome (MOTA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis.
See also OMIM:248450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078339102D → G in MOTA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1338652795Ensembl.1
Natural variantiVAR_0664121324L → R in MOTA. 1 PublicationCorresponds to variant dbSNP:rs281875281EnsemblClinVar.1
Natural variantiVAR_0664132091V → I in MOTA. 1 PublicationCorresponds to variant dbSNP:rs281875282EnsemblClinVar.1
Trigonocephaly 2 (TRIGNO2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head.
See also OMIM:614485
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067916498R → Q in TRIGNO2. 1 PublicationCorresponds to variant dbSNP:rs184394424EnsemblClinVar.1
Natural variantiVAR_0679171500E → V in TRIGNO2. 1 PublicationCorresponds to variant dbSNP:rs281875280EnsemblClinVar.1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
158326

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

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GeneReviewsi
FREM1

MalaCards human disease database

More...
MalaCardsi
FREM1
MIMi248450 phenotype
608980 phenotype
614485 phenotype

Open Targets

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OpenTargetsi
ENSG00000164946

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

More...
Orphaneti
217266 BNAR syndrome
3366 Isolated trigonocephaly
2717 Oculotrichoanal syndrome
93100 Renal agenesis, unilateral

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134892147

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
FREM1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215274141

<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 – 21Sequence analysisAdd BLAST21
<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_000001012222 – 2179FRAS1-related extracellular matrix protein 1Add BLAST2158

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi335N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi560N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi622N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1014N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1566N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi2151 ↔ 2165PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q5H8C1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5H8C1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q5H8C1

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

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PaxDbi
Q5H8C1

PeptideAtlas

More...
PeptideAtlasi
Q5H8C1

PRoteomics IDEntifications database

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PRIDEi
Q5H8C1

ProteomicsDB human proteome resource

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ProteomicsDBi
62849
62850 [Q5H8C1-2]
62851 [Q5H8C1-3]
62852 [Q5H8C1-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5H8C1

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

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PhosphoSitePlusi
Q5H8C1

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000164946 Expressed in 122 organ(s), highest expression level in kidney

CleanEx database of gene expression profiles

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CleanExi
HS_FREM1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q5H8C1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5H8C1 HS

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127670, 2 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q5H8C1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000370262

<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

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ProteinModelPortali
Q5H8C1

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati296 – 390CSPG 1PROSITE-ProRule annotationAdd BLAST95
Repeati413 – 500CSPG 2PROSITE-ProRule annotationAdd BLAST88
Repeati521 – 615CSPG 3PROSITE-ProRule annotationAdd BLAST95
Repeati642 – 754CSPG 4PROSITE-ProRule annotationAdd BLAST113
Repeati776 – 867CSPG 5PROSITE-ProRule annotationAdd BLAST92
Repeati887 – 982CSPG 6PROSITE-ProRule annotationAdd BLAST96
Repeati1024 – 1126CSPG 7PROSITE-ProRule annotationAdd BLAST103
Repeati1147 – 1254CSPG 8PROSITE-ProRule annotationAdd BLAST108
Repeati1275 – 1372CSPG 9PROSITE-ProRule annotationAdd BLAST98
Repeati1393 – 1485CSPG 10PROSITE-ProRule annotationAdd BLAST93
Repeati1506 – 1596CSPG 11PROSITE-ProRule annotationAdd BLAST91
Repeati1628 – 1724CSPG 12PROSITE-ProRule annotationAdd BLAST97
<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>Domaini1731 – 1830Calx-betaAdd BLAST100
Domaini2060 – 2174C-type lectinPROSITE-ProRule annotationAdd BLAST115

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi199 – 201Cell attachment siteBy similarity3
Motifi1907 – 1909Cell attachment siteSequence analysis3

<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 Calx-beta domain binds calcium with high affinity and undergo a major conformational shift upon binding.By similarity

<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 FRAS1 family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IR0E Eukaryota
ENOG410ZHZ2 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156990

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000082447

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080222

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5H8C1

Identification of Orthologs from Complete Genome Data

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OMAi
KKHLHFI

Database of Orthologous Groups

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OrthoDBi
577034at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5H8C1

TreeFam database of animal gene trees

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TreeFami
TF316876

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.2030, 1 hit
3.10.100.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001304 C-type_lectin-like
IPR016186 C-type_lectin-like/link_sf
IPR038081 CalX-like_sf
IPR003644 Calx_beta
IPR039005 CSPG_rpt
IPR016187 CTDL_fold
IPR032825 FREM1

The PANTHER Classification System

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PANTHERi
PTHR11878:SF24 PTHR11878:SF24, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03160 Calx-beta, 1 hit
PF00059 Lectin_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00034 CLECT, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF141072 SSF141072, 1 hit
SSF56436 SSF56436, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50041 C_TYPE_LECTIN_2, 1 hit
PS51854 CSPG, 12 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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5H8C1-1) [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.

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        10         20         30         40         50
MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA
60 70 80 90 100
IPKEKDACKV EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD
110 120 130 140 150
EDTVKLRLYR FTERDTFIET FILWVYLLEP DCNIIHMSNN VLEVPEFNGL
160 170 180 190 200
SQAIDKNLLR FDYDRMASLE CTVSLDTART RLPAHGQMVL GEPRPEEPRG
210 220 230 240 250
DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF LLMGLRYQHL
260 270 280 290 300
DPPSPNIDYI SIQLDLTDTR SKIVYKSESA WLPVYIRAGI PNQIPKAAFM
310 320 330 340 350
AVFILEVDQF ILTSLTTSVL DCEEDETPKP LLVFNITKAP LQGYVTHLLD
360 370 380 390 400
HTRPISSFTW KDLSDMQIAY QPPNSSHSER RHDEVELEVY DFFFERSAPM
410 420 430 440 450
TVHISIRTAD TNAPRVSWNT GLSLLEGQSR AITWEQFQVV DNDDIGAVRL
460 470 480 490 500
VTVGGLQHGW LTLRGGKGFL FTVADLQAGV VRYHHDDSDS TKDFVVFRIF
510 520 530 540 550
DGHHSIRHKF PINVLPKDDS PPFLITNVVI ELEEGQTILI QGSMLRASDV
560 570 580 590 600
DASDDYIFFN ITKPPQAGEI MKKPGPGLIG YPVHGFLQRD LFNGIIYYRH
610 620 630 640 650
FGGEIFEDSF QFVLWDSHEP PNLSVPQVAT IHITPVDDQL PKEAPGVSRH
660 670 680 690 700
LVVKETEVAY ITKKQLHFID SESYDRELVY TITTPPFFSF SHRHLDAGKL
710 720 730 740 750
FMVDSIPKVV KNPTALELRS FTQHAVNYMK VAYMPPMQDI GPHCRDVQFT
760 770 780 790 800
FSVSNQHGGT LHGICFNITI LPVDNQVPEA FTNPLKVTEG GQSIISTEHI
810 820 830 840 850
LISDADTKLD NIDLSLRELP LHGRVELNGF PLNSGGTFSW GDLHTLKVRY
860 870 880 890 900
QHDGTEVLQD DLLLEVTDGT NSAEFVLHVE VFPVNDEPPV LKADLMPVMN
910 920 930 940 950
CSEGGEVVIT SEYIFATDVD SDNLKLMFVI AREPQHGVVR RAGVTVDQFS
960 970 980 990 1000
QRDVISEAVT YKHTGGEIGL MPCFDTITLV VSDGEAGPFV NGCCYNGPNP
1010 1020 1030 1040 1050
SVPLHASFPV YDLNITVYPV DNQPPSIAIG PVFVVDEGCS TALTVNHLSA
1060 1070 1080 1090 1100
TDPDTAADDL EFVLVSPPQF GYLENILPSV GFEKSNIGIS IDSFQWKDMN
1110 1120 1130 1140 1150
AFHINYVQSR HLRIEPTADQ FTVYVTDGKH HSLEIPFSII INPTNDEAPD
1160 1170 1180 1190 1200
FVVQNITVCE GQMKELDSSI ISAVDLDIPQ DALLFSITQK PRHGLLIDRG
1210 1220 1230 1240 1250
FSKDFSENKQ PANPHQKHAP VHSFSMELLK TGMRLTYMHD DSESLADDFT
1260 1270 1280 1290 1300
IQLSDGKHKI LKTISVEVIP VNDEKPMLSK KAEIAMNMGE TRIISSAILS
1310 1320 1330 1340 1350
AIDEDSPREK IYYVFERLPQ NGQLQLKIGR DWVPLSPGMK CTQEEVDLNL
1360 1370 1380 1390 1400
LRYTHTGAMD SQNQDSFTFY LWDGNNRSPA LDCQITIKDM EKGDIVILTK
1410 1420 1430 1440 1450
PLVVSKGDRG FLTTTTLLAV DGTDKPEELL YVITSPPRYG QIEYVHYPGV
1460 1470 1480 1490 1500
PITNFSQMDV VGQTVCYVHK SKVTVSSDRF RFIISNGLRT EHGVFEITLE
1510 1520 1530 1540 1550
TVDRALPVVT RNKGLRLAQG AVGLLSPDLL QLTDPDTPAE NLTFLLVQLP
1560 1570 1580 1590 1600
QHGQLYLWGT GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC FTFMATDGTN
1610 1620 1630 1640 1650
QGFIVNGRVW EEPVLFTIQV DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY
1660 1670 1680 1690 1700
ITSRVLKASD PDTEDDQIIF KILQGPKHGH LENTTTGEFI HEKFSQKDLN
1710 1720 1730 1740 1750
SKTILYIINP SLEVNSDTVE FQIMDPTGNS ATPQILELKW SHIEWSQTEY
1760 1770 1780 1790 1800
EVCENVGLLP LEIIRRGYSM DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF
1810 1820 1830 1840 1850
DPGMSTKMWN IAITYDGLEE DDEVFEVILN SPVNAVLGTK TKAAVKILDS
1860 1870 1880 1890 1900
KGGQCHPSYS SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF HLERRPLPSS
1910 1920 1930 1940 1950
MQLAVIRGDT LRGFDSTDLS QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH
1960 1970 1980 1990 2000
GIVSLKLEDD SFPTHKRKAK VSIISQPQKT IKVAELPQAD KVESTTDSHF
2010 2020 2030 2040 2050
PRQDQLPSFP KNCTLELKGL FHFEEGIQKL YQCNGIAWKA WSPQTKDVED
2060 2070 2080 2090 2100
KSCPAGWHQH SGYCHILITE QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR
2110 2120 2130 2140 2150
WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE PVAFTNGRRG PSQRSKLGKS
2160 2170
CVLVQRQGKW QTKDCRRAKP HNYVCSRKL
Length:2,179
Mass (Da):244,154
Last modified:November 25, 2008 - v3
<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:i9C1C464DF95D2194
GO
Isoform 2 (identifier: Q5H8C1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1464: Missing.
     1465-1480: VCYVHKSKVTVSSDRF → MVTQESMLKAALPLFT

Note: No experimental confirmation available.
Show »
Length:715
Mass (Da):80,212
Checksum:i6C5535B7ADD46BAA
GO
Isoform 3 (identifier: Q5H8C1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1803: Missing.

Note: No experimental confirmation available.
Show »
Length:376
Mass (Da):42,501
Checksum:i5EA052AFC7866A1D
GO
Isoform 4 (identifier: Q5H8C1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1587: Missing.
     1588-1619: TDCFTFMATDGTNQGFIVNGRVWEEPVLFTIQ → MLDESLAVRRSKKCKEMIMHWEKKEDIDIVNT
     1804-1809: MSTKMW → SSILCL
     1810-2179: Missing.

Note: No experimental confirmation available.
Show »
Length:222
Mass (Da):25,008
Checksum:i33B5711E265D3BF4
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WE85F8WE85_HUMAN
FRAS1-related extracellular matrix ...
FREM1
1,335Annotation 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 AAH31064 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti1735I → N in AAH31064 (PubMed:15489334).Curated1
Sequence conflicti1861S → A in CAE46048 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078339102D → G in MOTA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1338652795Ensembl.1
Natural variantiVAR_047317439V → L1 PublicationCorresponds to variant dbSNP:rs2779500EnsemblClinVar.1
Natural variantiVAR_067916498R → Q in TRIGNO2. 1 PublicationCorresponds to variant dbSNP:rs184394424EnsemblClinVar.1
Natural variantiVAR_047318499I → V. Corresponds to variant dbSNP:rs1353223EnsemblClinVar.1
Natural variantiVAR_063422649R → W in BNAR. 1 PublicationCorresponds to variant dbSNP:rs121912609EnsemblClinVar.1
Natural variantiVAR_047319803S → Y. Corresponds to variant dbSNP:rs7023244EnsemblClinVar.1
Natural variantiVAR_047320863L → V1 PublicationCorresponds to variant dbSNP:rs7041710EnsemblClinVar.1
Natural variantiVAR_0473211202S → R. Corresponds to variant dbSNP:rs16932300EnsemblClinVar.1
Natural variantiVAR_0473221273D → E. Corresponds to variant dbSNP:rs7025814EnsemblClinVar.1
Natural variantiVAR_0664121324L → R in MOTA. 1 PublicationCorresponds to variant dbSNP:rs281875281EnsemblClinVar.1
Natural variantiVAR_0634231440G → S in BNAR. 1 PublicationCorresponds to variant dbSNP:rs121912610EnsemblClinVar.1
Natural variantiVAR_0679171500E → V in TRIGNO2. 1 PublicationCorresponds to variant dbSNP:rs281875280EnsemblClinVar.1
Natural variantiVAR_0473231502V → M. Corresponds to variant dbSNP:rs10961700EnsemblClinVar.1
Natural variantiVAR_0473241576N → I. Corresponds to variant dbSNP:rs2101770EnsemblClinVar.1
Natural variantiVAR_0664132091V → I in MOTA. 1 PublicationCorresponds to variant dbSNP:rs281875282EnsemblClinVar.1
Natural variantiVAR_0473252143Q → P2 PublicationsCorresponds to variant dbSNP:rs10961689EnsemblClinVar.1
Natural variantiVAR_0473262174V → G1 PublicationCorresponds to variant dbSNP:rs17856912Ensembl.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_0150251 – 1803Missing in isoform 3. 1 PublicationAdd BLAST1803
Alternative sequenceiVSP_0150261 – 1587Missing in isoform 4. 1 PublicationAdd BLAST1587
Alternative sequenceiVSP_0472831 – 1464Missing in isoform 2. 1 PublicationAdd BLAST1464
Alternative sequenceiVSP_0472841465 – 1480VCYVH…SSDRF → MVTQESMLKAALPLFT in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_0150291588 – 1619TDCFT…LFTIQ → MLDESLAVRRSKKCKEMIMH WEKKEDIDIVNT in isoform 4. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_0150301804 – 1809MSTKMW → SSILCL in isoform 4. 1 Publication6
Alternative sequenceiVSP_0150311810 – 2179Missing in isoform 4. 1 PublicationAdd BLAST370

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
AB160987 mRNA Translation: BAD89015.1
AK058190 mRNA Translation: BAB71709.1
BX641104 mRNA Translation: CAE46048.1
AL354672 Genomic DNA No translation available.
AL390732 Genomic DNA No translation available.
AL512643 Genomic DNA No translation available.
BC031064 mRNA Translation: AAH31064.2 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47952.1 [Q5H8C1-1]
CCDS55293.1 [Q5H8C1-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001171175.1, NM_001177704.1 [Q5H8C1-2]
NP_659403.4, NM_144966.5 [Q5H8C1-1]
XP_005251439.1, XM_005251382.3 [Q5H8C1-1]
XP_005251441.1, XM_005251384.4 [Q5H8C1-2]
XP_006716792.1, XM_006716729.3 [Q5H8C1-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.50850

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000380880; ENSP00000370262; ENSG00000164946 [Q5H8C1-1]
ENST00000380894; ENSP00000370278; ENSG00000164946 [Q5H8C1-2]
ENST00000422223; ENSP00000412940; ENSG00000164946 [Q5H8C1-1]
ENST00000427623; ENSP00000412597; ENSG00000164946 [Q5H8C1-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
158326

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:158326

UCSC genome browser

More...
UCSCi
uc003zll.4 human [Q5H8C1-1]

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

<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

Mendelian genes FRAS1 related extracellular matrix 1 (FREM1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB160987 mRNA Translation: BAD89015.1
AK058190 mRNA Translation: BAB71709.1
BX641104 mRNA Translation: CAE46048.1
AL354672 Genomic DNA No translation available.
AL390732 Genomic DNA No translation available.
AL512643 Genomic DNA No translation available.
BC031064 mRNA Translation: AAH31064.2 Different initiation.
CCDSiCCDS47952.1 [Q5H8C1-1]
CCDS55293.1 [Q5H8C1-2]
RefSeqiNP_001171175.1, NM_001177704.1 [Q5H8C1-2]
NP_659403.4, NM_144966.5 [Q5H8C1-1]
XP_005251439.1, XM_005251382.3 [Q5H8C1-1]
XP_005251441.1, XM_005251384.4 [Q5H8C1-2]
XP_006716792.1, XM_006716729.3 [Q5H8C1-2]
UniGeneiHs.50850

3D structure databases

ProteinModelPortaliQ5H8C1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127670, 2 interactors
CORUMiQ5H8C1
STRINGi9606.ENSP00000370262

PTM databases

iPTMnetiQ5H8C1
PhosphoSitePlusiQ5H8C1

Polymorphism and mutation databases

BioMutaiFREM1
DMDMi215274141

Proteomic databases

EPDiQ5H8C1
jPOSTiQ5H8C1
MaxQBiQ5H8C1
PaxDbiQ5H8C1
PeptideAtlasiQ5H8C1
PRIDEiQ5H8C1
ProteomicsDBi62849
62850 [Q5H8C1-2]
62851 [Q5H8C1-3]
62852 [Q5H8C1-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380880; ENSP00000370262; ENSG00000164946 [Q5H8C1-1]
ENST00000380894; ENSP00000370278; ENSG00000164946 [Q5H8C1-2]
ENST00000422223; ENSP00000412940; ENSG00000164946 [Q5H8C1-1]
ENST00000427623; ENSP00000412597; ENSG00000164946 [Q5H8C1-4]
GeneIDi158326
KEGGihsa:158326
UCSCiuc003zll.4 human [Q5H8C1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
158326
DisGeNETi158326
EuPathDBiHostDB:ENSG00000164946.19

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FREM1
GeneReviewsiFREM1
HGNCiHGNC:23399 FREM1
MalaCardsiFREM1
MIMi248450 phenotype
608944 gene
608980 phenotype
614485 phenotype
neXtProtiNX_Q5H8C1
OpenTargetsiENSG00000164946
Orphaneti217266 BNAR syndrome
3366 Isolated trigonocephaly
2717 Oculotrichoanal syndrome
93100 Renal agenesis, unilateral
PharmGKBiPA134892147

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR0E Eukaryota
ENOG410ZHZ2 LUCA
GeneTreeiENSGT00940000156990
HOGENOMiHOG000082447
HOVERGENiHBG080222
InParanoidiQ5H8C1
OMAiKKHLHFI
OrthoDBi577034at2759
PhylomeDBiQ5H8C1
TreeFamiTF316876

Enzyme and pathway databases

SIGNORiQ5H8C1

Miscellaneous databases

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

More...
ChiTaRSi
FREM1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
FREM1

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

More...
GenomeRNAii
158326

Protein Ontology

More...
PROi
PR:Q5H8C1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164946 Expressed in 122 organ(s), highest expression level in kidney
CleanExiHS_FREM1
ExpressionAtlasiQ5H8C1 baseline and differential
GenevisibleiQ5H8C1 HS

Family and domain databases

Gene3Di2.60.40.2030, 1 hit
3.10.100.10, 1 hit
InterProiView protein in InterPro
IPR001304 C-type_lectin-like
IPR016186 C-type_lectin-like/link_sf
IPR038081 CalX-like_sf
IPR003644 Calx_beta
IPR039005 CSPG_rpt
IPR016187 CTDL_fold
IPR032825 FREM1
PANTHERiPTHR11878:SF24 PTHR11878:SF24, 1 hit
PfamiView protein in Pfam
PF03160 Calx-beta, 1 hit
PF00059 Lectin_C, 1 hit
SMARTiView protein in SMART
SM00034 CLECT, 1 hit
SUPFAMiSSF141072 SSF141072, 1 hit
SSF56436 SSF56436, 1 hit
PROSITEiView protein in PROSITE
PS50041 C_TYPE_LECTIN_2, 1 hit
PS51854 CSPG, 12 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFREM1_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: Q5H8C1
Secondary accession number(s): B7ZBX4
, Q5VV00, Q5VV01, Q6MZI4, Q8NEG9, Q96LI3
<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: August 16, 2005
Last sequence update: November 25, 2008
Last modified: January 16, 2019
This is version 141 of the entry and version 3 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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