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Entry version 142 (08 May 2019)
Sequence version 1 (01 Jun 2001)
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Protein

Membrane frizzled-related protein

Gene

MFRP

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

May play a role in eye development.1 Publication

Miscellaneous

This protein is produced by a bicistronic gene which also produces the C1QTNF5 protein from a non-overlapping reading frame.

<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 - Biological processi

<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:
Membrane frizzled-related protein
Alternative name(s):
Membrane-type frizzled-related protein
<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:MFRP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18121 MFRP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606227 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BY79

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 69CytoplasmicSequence analysisAdd BLAST69
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei70 – 90Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini91 – 579ExtracellularSequence analysisAdd BLAST489

<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>Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Nanophthalmos 2 (NNO2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.
See also OMIM:609549
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_025694182I → T in NNO2. 1 PublicationCorresponds to variant dbSNP:rs121908190EnsemblClinVar.1
Microphthalmia, isolated, 5 (MCOP5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
See also OMIM:611040

Keywords - Diseasei

Disease mutation, Microphthalmia, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
83552

MalaCards human disease database

More...
MalaCardsi
MFRP
MIMi609549 phenotype
611040 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000235718

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

More...
Orphaneti
251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
35612 Nanophthalmia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30776

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MFRP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74717666

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002281321 – 579Membrane frizzled-related proteinAdd BLAST579

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 bondi144 ↔ 170By similarity
Disulfide bondi197 ↔ 216By 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>Glycosylationi227N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi260 ↔ 272By similarity
Disulfide bondi267 ↔ 285By similarity
Disulfide bondi279 ↔ 294By similarity
Disulfide bondi301 ↔ 327By similarity
Disulfide bondi354 ↔ 377By similarity
Glycosylationi415N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi421 ↔ 433By similarity
Disulfide bondi428 ↔ 446By similarity
Disulfide bondi440 ↔ 454By similarity
Disulfide bondi466 ↔ 528By similarity
Disulfide bondi474 ↔ 521By similarity
Disulfide bondi512 ↔ 549By similarity
Disulfide bondi538 ↔ 576By similarity
Disulfide bondi542 ↔ 564By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q9BY79

PeptideAtlas

More...
PeptideAtlasi
Q9BY79

PRoteomics IDEntifications database

More...
PRIDEi
Q9BY79

ProteomicsDB human proteome resource

More...
ProteomicsDBi
79601

PTM databases

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

More...
PhosphoSitePlusi
Q9BY79

<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

Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.2 Publications

<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

Expressed in fetal brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000223953 Expressed in 91 organ(s), highest expression level in adipose tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BY79 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BY79 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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with C1QTNF5.1 Publication

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000481824

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

3D structure databases

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

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SMRi
Q9BY79

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>Domaini144 – 253CUB 1PROSITE-ProRule annotationAdd BLAST110
Domaini259 – 295LDL-receptor class A 1PROSITE-ProRule annotationAdd BLAST37
Domaini301 – 414CUB 2PROSITE-ProRule annotationAdd BLAST114
Domaini420 – 455LDL-receptor class A 2PROSITE-ProRule annotationAdd BLAST36
Domaini461 – 579FZPROSITE-ProRule annotationAdd BLAST119

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi111 – 121Poly-ThrAdd BLAST11

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3577 Eukaryota
KOG4292 Eukaryota
ENOG410XR68 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154525

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000048709

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BY79

Identification of Orthologs from Complete Genome Data

More...
OMAi
EFPCDQL

Database of Orthologous Groups

More...
OrthoDBi
490520at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BY79

TreeFam database of animal gene trees

More...
TreeFami
TF316506

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00041 CUB, 2 hits
cd00112 LDLa, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.2000.10, 1 hit
2.60.120.290, 2 hits
4.10.400.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000859 CUB_dom
IPR020067 Frizzled_dom
IPR036790 Frizzled_dom_sf
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR035914 Sperma_CUB_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00431 CUB, 2 hits
PF01392 Fz, 1 hit
PF00057 Ldl_recept_a, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00261 LDLRECEPTOR

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00042 CUB, 2 hits
SM00063 FRI, 1 hit
SM00192 LDLa, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49854 SSF49854, 2 hits
SSF57424 SSF57424, 2 hits
SSF63501 SSF63501, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01180 CUB, 2 hits
PS50038 FZ, 1 hit
PS01209 LDLRA_1, 1 hit
PS50068 LDLRA_2, 2 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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BY79-1) [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
MKDFSDVILC MEATESSKTE FCNPAFEPES GPPCPPPVFP EDASYSVPAP
60 70 80 90 100
WHGRRPRGLR PDCRFSWLCV LLLSSLLLLL LGLLVAIILA QLQAAPPSGA
110 120 130 140 150
SHSPLPAGGL TTTTTTPTIT TSQAAGTPKG QQESGVSPSP QSTCGGLLSG
160 170 180 190 200
PRGFFSSPNY PDPYPPNTHC VWHIQVATDH AIQLKIEALS IESVASCLFD
210 220 230 240 250
RLELSPEPEG PLLRVCGRVP PPTLNTNASH LLVVFVSDSS VEGFGFHAWY
260 270 280 290 300
QAMAPGRGSC AHDEFRCDQL ICLLPDSVCD GFANCADGSD ETNCSAKFSG
310 320 330 340 350
CGGNLTGLQG TFSTPSYLQQ YPHQLLCTWH ISVPAGHSIE LQFHNFSLEA
360 370 380 390 400
QDECKFDYVE VYETSSSGAF SLLGRFCGAE PPPHLVSSHH ELAVLFRTDH
410 420 430 440 450
GISSGGFSAT YLAFNATENP CGPSELSCQA GGCKGVQWMC DMWRDCTDGS
460 470 480 490 500
DDNCSGPLFP PPELACEPVQ VEMCLGLSYN TTAFPNIWVG MITQEEVVEV
510 520 530 540 550
LSGYKSLTSL PCYQHFRRLL CGLLVPRCTP LGSVLPPCRS VCQEAEHQCQ
560 570
SGLALLGTPW PFNCNRLPEA ADLEACAQP
Length:579
Mass (Da):62,212
Last modified:June 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8E5F8D3A1C4BB074
GO
Isoform 2 (identifier: Q9BY79-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     301-387: CGGNLTGLQG...GAEPPPHLVS → SVEQSHPPTS...TAAAPCSHPQ
     388-505: Missing.

Note: No experimental confirmation available.
Show »
Length:461
Mass (Da):48,919
Checksum:i9165FD3A20A2A44C
GO

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

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0X1KG76A0A0X1KG76_HUMAN
Membrane frizzled-related protein
MFRP
188Annotation 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>
A0A0U1RQG2A0A0U1RQG2_HUMAN
Membrane frizzled-related protein
MFRP
101Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti40P → Q in CAH93521 (PubMed:16123440).Curated1
Sequence conflicti83Missing in CAH93521 (PubMed:16123440).Curated1
Sequence conflicti393A → S in BAB70859 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02569154R → G1 PublicationCorresponds to variant dbSNP:rs139436396Ensembl.1
Natural variantiVAR_025692119I → V1 PublicationCorresponds to variant dbSNP:rs4639950Ensembl.1
Natural variantiVAR_025693136V → M2 PublicationsCorresponds to variant dbSNP:rs3814762EnsemblClinVar.1
Natural variantiVAR_025694182I → T in NNO2. 1 PublicationCorresponds to variant dbSNP:rs121908190EnsemblClinVar.1
Natural variantiVAR_075401222P → T Found in a patient with high hyperopia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767183449Ensembl.1
Natural variantiVAR_071160259S → D Requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_025695449G → S1 PublicationCorresponds to variant dbSNP:rs139725672Ensembl.1
Natural variantiVAR_025696514Q → H1 PublicationCorresponds to variant dbSNP:rs368172459EnsemblClinVar.1
Natural variantiVAR_075402517R → W Found in a patient with high hyperopia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882144EnsemblClinVar.1
Natural variantiVAR_075403539R → C Found in a patient with high hyperopia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs374823079Ensembl.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_055928301 – 387CGGNL…PHLVS → SVEQSHPPTSSPRTMSWLCC LGQIMASAVEASQPPTWPSM PRRTPVGPVSSPARQEGVRV CSGCVTCGETAPMAAMTTAA APCSHPQ in isoform 2. 1 PublicationAdd BLAST87
Alternative sequenceiVSP_055929388 – 505Missing in isoform 2. 1 PublicationAdd BLAST118

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

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DDBJi
Links Updated
AB055505 mRNA Translation: BAB39771.1
AJ862823 mRNA Translation: CAH93521.1
AK055132 mRNA Translation: BAB70859.1
AK295203 mRNA Translation: BAG58200.1
EF444994 Genomic DNA Translation: ACA06013.1
EF444994 Genomic DNA Translation: ACA06015.1
AP003396 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW67483.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8421.1 [Q9BY79-1]

Protein sequence database of the Protein Information Resource

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PIRi
JC7629

NCBI Reference Sequences

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RefSeqi
NP_113621.1, NM_031433.3 [Q9BY79-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000360167; ENSP00000353291; ENSG00000235718 [Q9BY79-2]
ENST00000619721; ENSP00000481824; ENSG00000235718 [Q9BY79-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
83552

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:83552

UCSC genome browser

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UCSCi
uc001pwj.3 human [Q9BY79-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB055505 mRNA Translation: BAB39771.1
AJ862823 mRNA Translation: CAH93521.1
AK055132 mRNA Translation: BAB70859.1
AK295203 mRNA Translation: BAG58200.1
EF444994 Genomic DNA Translation: ACA06013.1
EF444994 Genomic DNA Translation: ACA06015.1
AP003396 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW67483.1
CCDSiCCDS8421.1 [Q9BY79-1]
PIRiJC7629
RefSeqiNP_113621.1, NM_031433.3 [Q9BY79-1]

3D structure databases

SMRiQ9BY79
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000481824

PTM databases

PhosphoSitePlusiQ9BY79

Polymorphism and mutation databases

BioMutaiMFRP
DMDMi74717666

Proteomic databases

PaxDbiQ9BY79
PeptideAtlasiQ9BY79
PRIDEiQ9BY79
ProteomicsDBi79601

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
83552
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360167; ENSP00000353291; ENSG00000235718 [Q9BY79-2]
ENST00000619721; ENSP00000481824; ENSG00000235718 [Q9BY79-1]
GeneIDi83552
KEGGihsa:83552
UCSCiuc001pwj.3 human [Q9BY79-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
83552
DisGeNETi83552

GeneCards: human genes, protein and diseases

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GeneCardsi
MFRP
HGNCiHGNC:18121 MFRP
MalaCardsiMFRP
MIMi606227 gene
609549 phenotype
611040 phenotype
neXtProtiNX_Q9BY79
OpenTargetsiENSG00000235718
Orphaneti251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
35612 Nanophthalmia
PharmGKBiPA30776

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3577 Eukaryota
KOG4292 Eukaryota
ENOG410XR68 LUCA
GeneTreeiENSGT00940000154525
HOGENOMiHOG000048709
InParanoidiQ9BY79
OMAiEFPCDQL
OrthoDBi490520at2759
PhylomeDBiQ9BY79
TreeFamiTF316506

Miscellaneous databases

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

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GenomeRNAii
83552

Protein Ontology

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PROi
PR:Q9BY79

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000223953 Expressed in 91 organ(s), highest expression level in adipose tissue
ExpressionAtlasiQ9BY79 baseline and differential
GenevisibleiQ9BY79 HS

Family and domain databases

CDDicd00041 CUB, 2 hits
cd00112 LDLa, 2 hits
Gene3Di1.10.2000.10, 1 hit
2.60.120.290, 2 hits
4.10.400.10, 2 hits
InterProiView protein in InterPro
IPR000859 CUB_dom
IPR020067 Frizzled_dom
IPR036790 Frizzled_dom_sf
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR035914 Sperma_CUB_dom_sf
PfamiView protein in Pfam
PF00431 CUB, 2 hits
PF01392 Fz, 1 hit
PF00057 Ldl_recept_a, 1 hit
PRINTSiPR00261 LDLRECEPTOR
SMARTiView protein in SMART
SM00042 CUB, 2 hits
SM00063 FRI, 1 hit
SM00192 LDLa, 2 hits
SUPFAMiSSF49854 SSF49854, 2 hits
SSF57424 SSF57424, 2 hits
SSF63501 SSF63501, 1 hit
PROSITEiView protein in PROSITE
PS01180 CUB, 2 hits
PS50038 FZ, 1 hit
PS01209 LDLRA_1, 1 hit
PS50068 LDLRA_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMFRP_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: Q9BY79
Secondary accession number(s): B0YJ36
, B0YJ37, B4DHN8, Q335M3, Q96DQ9
<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: March 21, 2006
Last sequence update: June 1, 2001
Last modified: May 8, 2019
This is version 142 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. 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
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