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MFRP membrane frizzled-related protein [ Homo sapiens (human) ]

Gene ID: 83552, updated on 17-Mar-2015
Official Symbol
MFRPprovided by HGNC
Official Full Name
membrane frizzled-related proteinprovided by HGNC
Primary source
HGNC:HGNC:18121
See related
Ensembl:ENSG00000259159; HPRD:06941; MIM:606227; Vega:OTTHUMG00000171803
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RD6; NNO2; MCOP5
Summary
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
Orthologs
See MFRP in MapViewer
Location:
11q23
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (119338934..119346673, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119209644..119217383, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369590 Neighboring gene C1q and tumor necrosis factor related protein 5 Neighboring gene ring finger protein 26 Neighboring gene ubiquitin specific peptidase 2 Neighboring gene USP2 antisense RNA 1 (head to head) Neighboring gene hippocampus abundant transcript-like 1 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ30570, MGC32938, DKFZp586B0621

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
embryo development NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
membrane frizzled-related protein
Names
membrane frizzled-related protein
membrane-type frizzled-related protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012235.1 RefSeqGene

    Range
    5001..12740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_031433.3NP_113621.1  membrane frizzled-related protein

    See proteins identical to NP_113621.1

    Status: REVIEWED

    Source sequence(s)
    AP003396
    Consensus CDS
    CCDS8421.1
    UniProtKB/Swiss-Prot
    Q9BY79
    Related
    ENSP00000481824, ENST00000619721
    Conserved Domains (3) summary
    cd07066
    Location:466579
    CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
    cd00041
    Location:301411
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:260294
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    119338934..119346673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    119096203..119103942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)