Q9BY79 · MFRP_HUMAN
- ProteinMembrane frizzled-related protein
- GeneMFRP
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids579 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Miscellaneous
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | apical plasma membrane | |
Cellular Component | membrane | |
Biological Process | embryo development ending in birth or egg hatching | |
Biological Process | eye photoreceptor cell development | |
Biological Process | retina development in camera-type eye | |
Biological Process | visual perception |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameMembrane frizzled-related protein
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BY79
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-69 | Cytoplasmic | ||||
Sequence: MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDASYSVPAPWHGRRPRGLRPDCRFSWLC | ||||||
Transmembrane | 70-90 | Helical; Signal-anchor for type II membrane protein | ||||
Sequence: VLLLSSLLLLLLGLLVAIILA | ||||||
Topological domain | 91-579 | Extracellular | ||||
Sequence: QLQAAPPSGASHSPLPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSPQSTCGGLLSGPRGFFSSPNYPDPYPPNTHCVWHIQVATDHAIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGRVPPPTLNTNASHLLVVFVSDSSVEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPDSVCDGFANCADGSDETNCSAKFSGCGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVSSHHELAVLFRTDHGISSGGFSATYLAFNATENPCGPSELSCQAGGCKGVQWMCDMWRDCTDGSDDNCSGPLFPPPELACEPVQVEMCLGLSYNTTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRSVCQEAEHQCQSGLALLGTPWPFNCNRLPEAADLEACAQP |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Nanophthalmos 2 (NNO2)
- Note
- DescriptionRare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.
- See alsoMIM:609549
Natural variants in NNO2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_025694 | 182 | I>T | in NNO2; dbSNP:rs121908190 |
Microphthalmia, isolated, 5 (MCOP5)
- Note
- 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 alsoMIM:611040
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_025691 | 54 | in dbSNP:rs139436396 | |||
Sequence: R → G | ||||||
Natural variant | VAR_025692 | 119 | in dbSNP:rs4639950 | |||
Sequence: I → V | ||||||
Natural variant | VAR_025693 | 136 | in dbSNP:rs3814762 | |||
Sequence: V → M | ||||||
Natural variant | VAR_025694 | 182 | in NNO2; dbSNP:rs121908190 | |||
Sequence: I → T | ||||||
Natural variant | VAR_075401 | 222 | found in a patient with high hyperopia; uncertain significance; dbSNP:rs767183449 | |||
Sequence: P → T | ||||||
Natural variant | VAR_071160 | 259 | requires 2 nucleotide substitutions | |||
Sequence: S → D | ||||||
Natural variant | VAR_025695 | 449 | in dbSNP:rs139725672 | |||
Sequence: G → S | ||||||
Natural variant | VAR_025696 | 514 | in dbSNP:rs368172459 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_075402 | 517 | found in a patient with high hyperopia; uncertain significance; dbSNP:rs730882144 | |||
Sequence: R → W | ||||||
Natural variant | VAR_075403 | 539 | found in a patient with high hyperopia; uncertain significance; dbSNP:rs374823079 | |||
Sequence: R → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 807 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, disulfide bond, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000228132 | 1-579 | Membrane frizzled-related protein | |||
Sequence: MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDASYSVPAPWHGRRPRGLRPDCRFSWLCVLLLSSLLLLLLGLLVAIILAQLQAAPPSGASHSPLPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSPQSTCGGLLSGPRGFFSSPNYPDPYPPNTHCVWHIQVATDHAIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGRVPPPTLNTNASHLLVVFVSDSSVEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPDSVCDGFANCADGSDETNCSAKFSGCGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVSSHHELAVLFRTDHGISSGGFSATYLAFNATENPCGPSELSCQAGGCKGVQWMCDMWRDCTDGSDDNCSGPLFPPPELACEPVQVEMCLGLSYNTTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRSVCQEAEHQCQSGLALLGTPWPFNCNRLPEAADLEACAQP | ||||||
Disulfide bond | 144↔170 | |||||
Sequence: CGGLLSGPRGFFSSPNYPDPYPPNTHC | ||||||
Disulfide bond | 197↔216 | |||||
Sequence: CLFDRLELSPEPEGPLLRVC | ||||||
Glycosylation | 227 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 260↔272 | |||||
Sequence: CAHDEFRCDQLIC | ||||||
Disulfide bond | 267↔285 | |||||
Sequence: CDQLICLLPDSVCDGFANC | ||||||
Disulfide bond | 279↔294 | |||||
Sequence: CDGFANCADGSDETNC | ||||||
Disulfide bond | 301↔327 | |||||
Sequence: CGGNLTGLQGTFSTPSYLQQYPHQLLC | ||||||
Disulfide bond | 354↔377 | |||||
Sequence: CKFDYVEVYETSSSGAFSLLGRFC | ||||||
Glycosylation | 415 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 421↔433 | |||||
Sequence: CGPSELSCQAGGC | ||||||
Disulfide bond | 428↔446 | |||||
Sequence: CQAGGCKGVQWMCDMWRDC | ||||||
Disulfide bond | 440↔454 | |||||
Sequence: CDMWRDCTDGSDDNC | ||||||
Disulfide bond | 466↔528 | |||||
Sequence: CEPVQVEMCLGLSYNTTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRC | ||||||
Disulfide bond | 474↔521 | |||||
Sequence: CLGLSYNTTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLC | ||||||
Disulfide bond | 512↔549 | |||||
Sequence: CYQHFRRLLCGLLVPRCTPLGSVLPPCRSVCQEAEHQC | ||||||
Disulfide bond | 538↔576 | |||||
Sequence: CRSVCQEAEHQCQSGLALLGTPWPFNCNRLPEAADLEAC | ||||||
Disulfide bond | 542↔564 | |||||
Sequence: CQEAEHQCQSGLALLGTPWPFNC |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Developmental stage
Gene expression databases
Organism-specific databases
Interaction
Subunit
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9BY79 | C1QTNF5 Q9BXJ0 | 3 | EBI-29375513, EBI-19947914 | |
BINARY | Q9BY79 | C1QTNF5 PRO_0000003535 Q9BXJ0 | 5 | EBI-29375513, EBI-34575799 | |
XENO | Q9BY79 | C1qtnf5 Q8K479 | 6 | EBI-29375513, EBI-29374993 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 100-143 | Disordered | ||||
Sequence: ASHSPLPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSPQST | ||||||
Compositional bias | 105-143 | Polar residues | ||||
Sequence: LPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSPQST | ||||||
Domain | 144-253 | CUB 1 | ||||
Sequence: CGGLLSGPRGFFSSPNYPDPYPPNTHCVWHIQVATDHAIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGRVPPPTLNTNASHLLVVFVSDSSVEGFGFHAWYQAM | ||||||
Domain | 259-295 | LDL-receptor class A 1 | ||||
Sequence: SCAHDEFRCDQLICLLPDSVCDGFANCADGSDETNCS | ||||||
Domain | 301-414 | CUB 2 | ||||
Sequence: CGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVSSHHELAVLFRTDHGISSGGFSATYLAF | ||||||
Domain | 420-455 | LDL-receptor class A 2 | ||||
Sequence: PCGPSELSCQAGGCKGVQWMCDMWRDCTDGSDDNCS | ||||||
Domain | 461-579 | FZ | ||||
Sequence: PPELACEPVQVEMCLGLSYNTTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRSVCQEAEHQCQSGLALLGTPWPFNCNRLPEAADLEACAQP |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9BY79-1
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.
- Name1
- Length579
- Mass (Da)62,212
- Last updated2001-06-01 v1
- Checksum8E5F8D3A1C4BB074
Q9BY79-2
- Name2
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A0U1RQG2 | A0A0U1RQG2_HUMAN | MFRP | 101 | ||
A0A0X1KG76 | A0A0X1KG76_HUMAN | MFRP | 188 |
Features
Showing features for sequence conflict, compositional bias, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 40 | in Ref. 2; CAH93521 | ||||
Sequence: P → Q | ||||||
Sequence conflict | 83 | in Ref. 2; CAH93521 | ||||
Sequence: Missing | ||||||
Compositional bias | 105-143 | Polar residues | ||||
Sequence: LPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSPQST | ||||||
Alternative sequence | VSP_055928 | 301-387 | in isoform 2 | |||
Sequence: CGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVS → SVEQSHPPTSSPRTMSWLCCLGQIMASAVEASQPPTWPSMPRRTPVGPVSSPARQEGVRVCSGCVTCGETAPMAAMTTAAAPCSHPQ | ||||||
Alternative sequence | VSP_055929 | 388-505 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 393 | in Ref. 3; BAB70859 | ||||
Sequence: A → S |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB055505 EMBL· GenBank· DDBJ | BAB39771.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ862823 EMBL· GenBank· DDBJ | CAH93521.1 EMBL· GenBank· DDBJ | mRNA | ||
AK055132 EMBL· GenBank· DDBJ | BAB70859.1 EMBL· GenBank· DDBJ | mRNA | ||
AK295203 EMBL· GenBank· DDBJ | BAG58200.1 EMBL· GenBank· DDBJ | mRNA | ||
EF444994 EMBL· GenBank· DDBJ | ACA06013.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
EF444994 EMBL· GenBank· DDBJ | ACA06015.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AP003396 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471065 EMBL· GenBank· DDBJ | EAW67483.1 EMBL· GenBank· DDBJ | Genomic DNA |