MFRP_HUMAN » Membrane frizzled-related protein

MFRP_HUMAN » Membrane frizzled-related protein
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
MFRP_HUMAN » Membrane frizzled-related protein » Membrane-type frizzled-related protein;
Hydrophobic Thickness 34.8 ± 2.6 Å
Tilt Angle 39 ± 6°
ΔGtransfer -31.2 kcal/mol
ΔGfold -28.3 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology In
TM Segments 65-93 (61-95)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 144-250, PDBID: 3KQ4, Subunit B, Seq Identity:36%, CUB domain

AA: 258-294, PDBID: 1F5Y, Subunit A, Seq Identity:46%, Low-density lipoprotein receptor domain class A

AA: 301-411, PDBID: 3KQ4, Subunit B, Seq Identity:45%, CUB domain

AA: 466-572, PDBID: 1IJY, Subunit B, Seq Identity:35%, Fz domain

UniProt annotation for MFRP_HUMAN » Membrane frizzled-related protein
FUNCTION: May play a role in eye development.

SUBUNIT: Interacts with C1QTNF5.

TISSUE SPECIFICITY: Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.

DEVELOPMENTAL STAGE: Expressed in fetal brain.

DISEASE: Nanophthalmos 2 (NNO2) OMIM: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.

DISEASE: Microphthalmia, isolated, 5 (MCOP5) OMIM: A 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. by mutations affecting the gene represented in this entry.

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

UniProt features for MFRP_HUMAN » Membrane frizzled-related protein
CHAIN 1 579 Membrane frizzled-related protein.
DOMAIN 144 253 CUB 1.
DOMAIN 259 295 LDL-receptor class A 1.
DOMAIN 301 414 CUB 2.
DOMAIN 420 455 LDL-receptor class A 2.
DOMAIN 461 579 FZ.
DISULFID 144 170 By similarity.
DISULFID 197 216 By similarity.
DISULFID 260 272 By similarity.
DISULFID 267 285 By similarity.
DISULFID 279 294 By similarity.
DISULFID 301 327 By similarity.
DISULFID 354 377 By similarity.
DISULFID 421 433 By similarity.
DISULFID 428 446 By similarity.
DISULFID 440 454 By similarity.
DISULFID 466 528 By similarity.
DISULFID 474 521 By similarity.
DISULFID 512 549 By similarity.
DISULFID 538 576 By similarity.
DISULFID 542 564 By similarity.
Amino Acid Sequence for MFRP_HUMAN » Membrane frizzled-related protein
MKDFSDVILC MEATESSKTE FCNPAFEPES GPPCPPPVFP EDASYSVPAP WHGRRPRGLR PDCRFSWLCV LLLSSLLLLL LGLLVAIILA QLQAAPPSGA SHSPLPAGGL TTTTTTPTIT TSQAAGTPKG QQESGVSPSP QSTCGGLLSG PRGFFSSPNY PDPYPPNTHC VWHIQVATDH AIQLKIEALS IESVASCLFD RLELSPEPEG PLLRVCGRVP PPTLNTNASH LLVVFVSDSS VEGFGFHAWY QAMAPGRGSC AHDEFRCDQL ICLLPDSVCD GFANCADGSD ETNCSAKFSG CGGNLTGLQG TFSTPSYLQQ YPHQLLCTWH ISVPAGHSIE LQFHNFSLEA QDECKFDYVE VYETSSSGAF SLLGRFCGAE PPPHLVSSHH ELAVLFRTDH GISSGGFSAT YLAFNATENP CGPSELSCQA GGCKGVQWMC DMWRDCTDGS DDNCSGPLFP PPELACEPVQ VEMCLGLSYN TTAFPNIWVG MITQEEVVEV LSGYKSLTSL PCYQHFRRLL CGLLVPRCTP LGSVLPPCRS VCQEAEHQCQ SGLALLGTPW PFNCNRLPEA ADLEACAQP