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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-Experimental evidence at protein leveli

Functioni

May play a role in eye development.1 Publication

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-32558-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Membrane frizzled-related protein
Alternative name(s):
Membrane-type frizzled-related protein
Gene namesi
Name:MFRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:18121. MFRP.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 69CytoplasmicSequence analysisAdd BLAST69
Transmembranei70 – 90Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini91 – 579ExtracellularSequence analysisAdd BLAST489

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

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
Natural variantiVAR_025694182I → T in NNO2. 1 PublicationCorresponds to variant rs121908190dbSNPEnsembl.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

DisGeNETi83552.
MalaCardsiMFRP.
MIMi609549. phenotype.
611040. phenotype.
OpenTargetsiENSG00000235718.
Orphaneti251279. Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen.
35612. Nanophthalmia.
PharmGKBiPA30776.

Polymorphism and mutation databases

DMDMi74717666.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002281321 – 579Membrane frizzled-related proteinAdd BLAST579

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi144 ↔ 170By similarity
Disulfide bondi197 ↔ 216By similarity
Glycosylationi227N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi260 ↔ 272By similarity
Disulfide bondi267 ↔ 285By similarity
Disulfide bondi279 ↔ 294By similarity
Disulfide bondi301 ↔ 327By similarity
Disulfide bondi354 ↔ 377By similarity
Glycosylationi415N-linked (GlcNAc...)Sequence 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

PaxDbiQ9BY79.
PeptideAtlasiQ9BY79.
PRIDEiQ9BY79.

PTM databases

PhosphoSitePlusiQ9BY79.

Expressioni

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

Developmental stagei

Expressed in fetal brain.1 Publication

Gene expression databases

CleanExiHS_MFRP.
ExpressionAtlasiQ9BY79. baseline and differential.
GenevisibleiQ9BY79. HS.

Organism-specific databases

HPAiHPA042946.

Interactioni

Subunit structurei

Interacts with C1QTNF5.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000456533.

Structurei

3D structure databases

ProteinModelPortaliQ9BY79.
SMRiQ9BY79.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Compositional biasi111 – 121Poly-ThrAdd BLAST11

Sequence similaritiesi

Contains 2 CUB domains.PROSITE-ProRule annotation
Contains 1 FZ (frizzled) domain.PROSITE-ProRule annotation
Contains 2 LDL-receptor class A domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3577. Eukaryota.
KOG4292. Eukaryota.
ENOG410XR68. LUCA.
GeneTreeiENSGT00760000119018.
HOGENOMiHOG000048709.
HOVERGENiHBG081968.
InParanoidiQ9BY79.
OMAiGLEACAQ.
OrthoDBiEOG091G0CGM.
PhylomeDBiQ9BY79.
TreeFamiTF316506.

Family and domain databases

CDDicd00041. CUB. 2 hits.
Gene3Di1.10.2000.10. 1 hit.
2.60.120.290. 2 hits.
4.10.400.10. 2 hits.
InterProiIPR000859. CUB_dom.
IPR020067. Frizzled_dom.
IPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
[Graphical view]
PfamiPF00431. CUB. 2 hits.
PF01392. Fz. 1 hit.
PF00057. Ldl_recept_a. 1 hit.
[Graphical view]
PRINTSiPR00261. LDLRECEPTOR.
SMARTiSM00042. CUB. 2 hits.
SM00063. FRI. 1 hit.
SM00192. LDLa. 2 hits.
[Graphical view]
SUPFAMiSSF49854. SSF49854. 2 hits.
SSF57424. SSF57424. 2 hits.
SSF63501. SSF63501. 1 hit.
PROSITEiPS01180. CUB. 2 hits.
PS50038. FZ. 1 hit.
PS01209. LDLRA_1. 1 hit.
PS50068. LDLRA_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 → G.1 PublicationCorresponds to variant rs139436396dbSNPEnsembl.1
Natural variantiVAR_025692119I → V.1 PublicationCorresponds to variant rs4639950dbSNPEnsembl.1
Natural variantiVAR_025693136V → M.2 PublicationsCorresponds to variant rs3814762dbSNPEnsembl.1
Natural variantiVAR_025694182I → T in NNO2. 1 PublicationCorresponds to variant rs121908190dbSNPEnsembl.1
Natural variantiVAR_075401222P → T Found in a patient with high hyperopia; unknown pathological significance. 1 PublicationCorresponds to variant rs767183449dbSNPEnsembl.1
Natural variantiVAR_071160259S → D Requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_025695449G → S.1 PublicationCorresponds to variant rs139725672dbSNPEnsembl.1
Natural variantiVAR_025696514Q → H.1 PublicationCorresponds to variant rs368172459dbSNPEnsembl.1
Natural variantiVAR_075402517R → W Found in a patient with high hyperopia; unknown pathological significance. 1 PublicationCorresponds to variant rs730882144dbSNPEnsembl.1
Natural variantiVAR_075403539R → C Found in a patient with high hyperopia; unknown pathological significance. 1 PublicationCorresponds to variant rs374823079dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.632102.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.632102.

3D structure databases

ProteinModelPortaliQ9BY79.
SMRiQ9BY79.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000456533.

PTM databases

PhosphoSitePlusiQ9BY79.

Polymorphism and mutation databases

DMDMi74717666.

Proteomic databases

PaxDbiQ9BY79.
PeptideAtlasiQ9BY79.
PRIDEiQ9BY79.

Protocols and materials databases

DNASUi83552.
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

CTDi83552.
DisGeNETi83552.
GeneCardsiMFRP.
HGNCiHGNC:18121. MFRP.
HPAiHPA042946.
MalaCardsiMFRP.
MIMi606227. gene.
609549. phenotype.
611040. phenotype.
neXtProtiNX_Q9BY79.
OpenTargetsiENSG00000235718.
Orphaneti251279. Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen.
35612. Nanophthalmia.
PharmGKBiPA30776.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3577. Eukaryota.
KOG4292. Eukaryota.
ENOG410XR68. LUCA.
GeneTreeiENSGT00760000119018.
HOGENOMiHOG000048709.
HOVERGENiHBG081968.
InParanoidiQ9BY79.
OMAiGLEACAQ.
OrthoDBiEOG091G0CGM.
PhylomeDBiQ9BY79.
TreeFamiTF316506.

Enzyme and pathway databases

BioCyciZFISH:G66-32558-MONOMER.

Miscellaneous databases

GenomeRNAii83552.
PROiQ9BY79.
SOURCEiSearch...

Gene expression databases

CleanExiHS_MFRP.
ExpressionAtlasiQ9BY79. baseline and differential.
GenevisibleiQ9BY79. HS.

Family and domain databases

CDDicd00041. CUB. 2 hits.
Gene3Di1.10.2000.10. 1 hit.
2.60.120.290. 2 hits.
4.10.400.10. 2 hits.
InterProiIPR000859. CUB_dom.
IPR020067. Frizzled_dom.
IPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
[Graphical view]
PfamiPF00431. CUB. 2 hits.
PF01392. Fz. 1 hit.
PF00057. Ldl_recept_a. 1 hit.
[Graphical view]
PRINTSiPR00261. LDLRECEPTOR.
SMARTiSM00042. CUB. 2 hits.
SM00063. FRI. 1 hit.
SM00192. LDLa. 2 hits.
[Graphical view]
SUPFAMiSSF49854. SSF49854. 2 hits.
SSF57424. SSF57424. 2 hits.
SSF63501. SSF63501. 1 hit.
PROSITEiPS01180. CUB. 2 hits.
PS50038. FZ. 1 hit.
PS01209. LDLRA_1. 1 hit.
PS50068. LDLRA_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMFRP_HUMAN
AccessioniPrimary (citable) accession number: Q9BY79
Secondary accession number(s): B0YJ36
, B0YJ37, B4DHN8, Q335M3, Q96DQ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 127 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Miscellaneous

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

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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.