UniProtKB - Q684R7 (FREM1_MOUSE)
Protein
FRAS1-related extracellular matrix protein 1
Gene
Frem1
Organism
Mus musculus (Mouse)
Status
Functioni
Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.1 Publication
Miscellaneous
Was termed QBRICK because it contains 12 repeats: 'Q' stands for queen and is taken from the queen being the 12th in a suit of playing card, and 'BRICK' stands for the repeating unit.
Frem1 also corresponds to a N-ethyl-N-nitrosourea-induced allele called 'bat'. Homozygous bat mice display similar phenotype than heb mice.
GO - Molecular functioni
- carbohydrate binding Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- cell communication Source: InterPro
- cell-matrix adhesion Source: MGI
- craniofacial suture morphogenesis Source: UniProtKB
Keywordsi
Molecular function | Developmental protein |
Biological process | Cell adhesion |
Ligand | Calcium, Lectin, Metal-binding |
Names & Taxonomyi
Protein namesi | Recommended name: FRAS1-related extracellular matrix protein 1Alternative name(s): Protein QBRICK |
Gene namesi | Name:Frem1 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:2670972, Frem1 |
Subcellular locationi
Extracellular region or secreted
- basement membrane 1 Publication
Note: Localizes at the basement membrane zone of embryonic epidermis and hair follicles.1 Publication
Extracellular region or secreted
- extracellular region Source: UniProtKB-KW
Other locations
- basement membrane Source: BHF-UCL
- collagen-containing extracellular matrix Source: BHF-UCL
- integral component of membrane Source: InterPro
Keywords - Cellular componenti
Basement membrane, Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Defects in Frem1 are the cause of head blebs (heb) which is a spontaneous mutation that is characterized by absent or malformed eyes, which are often open at birth. Cryptophthalmos is noted in all heb homozygous animals, as is occasional hindlimb polydactyly.1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 207 | D → E: Impairs cell adhesion ability in vitro. 1 Publication | 1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 29 | Sequence analysisAdd BLAST | 29 | |
ChainiPRO_0000010123 | 30 – 2191 | FRAS1-related extracellular matrix protein 1Add BLAST | 2162 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 341 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 566 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 628 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1039 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1180 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1584 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 2163 ↔ 2177 | PROSITE-ProRule annotation |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
PaxDbi | Q684R7 |
PRIDEi | Q684R7 |
ProteomicsDBi | 266856 [Q684R7-1] 266857 [Q684R7-2] 266858 [Q684R7-3] |
PTM databases
GlyGeni | Q684R7, 6 sites |
iPTMneti | Q684R7 |
PhosphoSitePlusi | Q684R7 |
Expressioni
Tissue specificityi
Expressed in epidermis and hair follicles. Expressed in many developing epidermal appendages, including the whisker and sensory vibrissae, cranial and trunk hair follicles, meibomian glands, teeth, footpads, eyelash primordia and invaginating mammary glands. Limb expression localizes to sheets of dermal cells on the apical and basal surfaces of the digits but, unlike FRAS1, is excluded from the apical ectodermal ridge. Usually expressed at higher level in dermal cells underlying the differentiating epithelial components, especially underlying the epidermis of the head, limbs, and eyelids. Expression in the eyelid dermis is apparent as early as 13 dpc. Postnatal expression in the skin is limited to the dermal papillae. In the kidney, it is expressed from 12.5 dpc in the mesenchyme surrounding the branching ureteric tree, with a strong expression in the more proximal regions of these tubules rather than at the proliferating and branching ends of the ureteric buds. In hair follicle, it is selectively expressed in the vibrissal hair primordia during development. Preferentially expressed in the whisker pad epithelia of 12.5 dpc embryos, in both the epithelial and mesenchymal cells of developing hair follicles. In the early stages of hair follicle development (i.e. stages 0-1), it is expressed in both hair placodes and dermal condensations. In stage 2, it is detected in dermal condensations and adjacent epithelia, but not in the upper region of the hair follicles. Expressed at the tip of developing hair follicles in the later stages (i.e. stages 3-5).2 Publications
Developmental stagei
Expressed in the embryos of all stages examined and in some adult tissues including eye, kidney, ovary, urinary bladder and testes; however, the overall expression levels in adult tissues are relatively low compared with those in embryonic tissues.
Gene expression databases
Bgeei | ENSMUSG00000059049, Expressed in lung and 185 other tissues |
ExpressionAtlasi | Q684R7, baseline and differential |
Genevisiblei | Q684R7, MM |
Interactioni
Subunit structurei
Interacts with FREM2.
By similarityProtein-protein interaction databases
DIPi | DIP-61243N |
IntActi | Q684R7, 2 interactors |
STRINGi | 10090.ENSMUSP00000071627 |
Miscellaneous databases
RNActi | Q684R7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 300 – 394 | CSPG 1PROSITE-ProRule annotationAdd BLAST | 95 | |
Repeati | 419 – 506 | CSPG 2PROSITE-ProRule annotationAdd BLAST | 88 | |
Repeati | 527 – 621 | CSPG 3PROSITE-ProRule annotationAdd BLAST | 95 | |
Repeati | 648 – 779 | CSPG 4PROSITE-ProRule annotationAdd BLAST | 132 | |
Repeati | 801 – 892 | CSPG 5PROSITE-ProRule annotationAdd BLAST | 92 | |
Repeati | 912 – 1007 | CSPG 6PROSITE-ProRule annotationAdd BLAST | 96 | |
Repeati | 1049 – 1151 | CSPG 7PROSITE-ProRule annotationAdd BLAST | 103 | |
Repeati | 1172 – 1273 | CSPG 8PROSITE-ProRule annotationAdd BLAST | 102 | |
Repeati | 1294 – 1391 | CSPG 9PROSITE-ProRule annotationAdd BLAST | 98 | |
Repeati | 1412 – 1504 | CSPG 10PROSITE-ProRule annotationAdd BLAST | 93 | |
Repeati | 1525 – 1614 | CSPG 11PROSITE-ProRule annotationAdd BLAST | 90 | |
Repeati | 1650 – 1742 | CSPG 12PROSITE-ProRule annotationAdd BLAST | 93 | |
Domaini | 1749 – 1848 | Calx-betaAdd BLAST | 100 | |
Domaini | 2072 – 2186 | C-type lectinPROSITE-ProRule annotationAdd BLAST | 115 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 205 – 207 | Cell attachment site | 3 |
Domaini
The Calx-beta domain binds calcium with high affinity and undergo a major conformational shift upon binding.By similarity
Sequence similaritiesi
Belongs to the FRAS1 family.Curated
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG3597, Eukaryota |
GeneTreei | ENSGT00940000156990 |
InParanoidi | Q684R7 |
OMAi | MVYVTDG |
OrthoDBi | 13258at2759 |
PhylomeDBi | Q684R7 |
TreeFami | TF316876 |
Family and domain databases
Gene3Di | 2.60.40.2030, 1 hit 3.10.100.10, 1 hit |
InterProi | View protein in InterPro IPR001304, C-type_lectin-like IPR016186, C-type_lectin-like/link_sf IPR038081, CalX-like_sf IPR003644, Calx_beta IPR039005, CSPG_rpt IPR016187, CTDL_fold IPR032825, FREM1 |
PANTHERi | PTHR45739:SF7, PTHR45739:SF7, 1 hit |
Pfami | View protein in Pfam PF03160, Calx-beta, 1 hit PF00059, Lectin_C, 1 hit |
SMARTi | View protein in SMART SM00034, CLECT, 1 hit |
SUPFAMi | SSF141072, SSF141072, 1 hit SSF56436, SSF56436, 1 hit |
PROSITEi | View protein in PROSITE PS50041, C_TYPE_LECTIN_2, 1 hit PS51854, CSPG, 12 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q684R7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MHSPGCTGPK AQWFLLLQLL LLHLDRVSAT FISINRGLRV MKGSSAFLSG
60 70 80 90 100
DHLRVAVPKE KDACRLEVVM NEPVTQRVGK LSPQVFDCHF LPNEVKYVHN
110 120 130 140 150
GCPILDEDSV KLRLYRFTET DTFMETFLLR VYLVEPDCNI IRMSSNVLEV
160 170 180 190 200
TEFYGLSQAI DKNLLQFDYD RTASLDCTIR LDPLRTQLPA HGKLVVVNRK
210 220 230 240 250
SEGPRGDQPH SFFSETELGA GLKCPDGSCA LELKQVASLK VSCEEFLLTG
260 270 280 290 300
FHYQHMQPPS PNIDYIPIQL DLTDRRSKTV YKSESAWLPV YIRVGIPNQV
310 320 330 340 350
PRAAFMAMFV LEVDQFILTP LTTSVLDCEE DETPKPLLVF NITKAPLQGY
360 370 380 390 400
VTHLLDHTRP ISSFTWKDLS DMQVAYQPPN SSHPERRHYT MELEVYDFFF
410 420 430 440 450
ERSAPITVHI SIRTADTNAP RVSWNTGLNL LEGQSRAITW EQFQIVDNDD
460 470 480 490 500
IGAVQLVTIG GLQHGRLTVR EGKGFLFTVT DLQAGVVRYH HDDSDTTKDF
510 520 530 540 550
VAFRIFDGHH SSHHKFPINI LPKDDSPPFL ITNVVIELEE GKTILIQGSM
560 570 580 590 600
LRASDMDSSD DYIFFNITKF PQAGEIMKKP GPRLIGYPVP GFLQRDLFSG
610 620 630 640 650
IIYYRHFGGE IFEDSFEFVL WDSHEPPNLS VPQVVTIHIT PVDDQLPKEA
660 670 680 690 700
PGISRHLVVK ETEVAYITKK HLHFLDMESR DGELIYTVTR PPCFSFSHRH
710 720 730 740 750
LDAGKLFMVD SIPKLTKNPT APGLSSFTQG LILISANQHT CSSQFASQHA
760 770 780 790 800
VNHMKVAYMP PMQDIGPSPR HVQFTVSVSN QHGGALHGIC FNITVLPVDN
810 820 830 840 850
QVPEVFTNTL RVVEGGQCTI STEHILVSDV DTPLDSISLS LKERPLHGGV
860 870 880 890 900
ELDGFPLNPR GTFSWRDLNT LKVWYQHDGS EVLQDEIFLE VTDGTNSAAF
910 920 930 940 950
VLHIEVFPVN DEPPILKADL IPMMHCSEGG EVTITPEYIS ATDADSDDLE
960 970 980 990 1000
LLFLIAREPQ HGVVRKAGLH VDRFSQGDVI SGAVTYKHTG GEIGLEPCSD
1010 1020 1030 1040 1050
TVVLVVSDGE ADPLMNGCCY DGPDSSVPLH KSFPTYQLNI TVHPVDNQPP
1060 1070 1080 1090 1100
SIIIGRMLTV DEGFSAALTT HHLTVVDWDT APDDLKFMLA SQPQFGYLEN
1110 1120 1130 1140 1150
ALPSAGFEKS NIGIRIASFQ WTDMKASHIN YVQSRHLRVE PTADQFTVYA
1160 1170 1180 1190 1200
TDGKHRSLET TFHVIINPTN DEAPDLAVQN ITVYEGHMVE LDSSIISATD
1210 1220 1230 1240 1250
RDIPKDPLLF SIALKPQHGL LVDAAISKDS HQIKQLQHEI HSFSVDLLKN
1260 1270 1280 1290 1300
GMKLVYAHDD SESSADNFVI QLSDGKHKIL KTISVNITPV NDETPTLSKK
1310 1320 1330 1340 1350
AEISMAVGDT RVLSSAVLSA TDKDSPREKI HYVFERLPQN GQLQLKIGRD
1360 1370 1380 1390 1400
WVPLSTGMQC TQEDVDLNLL RYTHAGKTDS QDGDSFTFYL WDEDNRSPAF
1410 1420 1430 1440 1450
DCHIIIEDMG KGDIVIHAKP LVVVKGDRGL LTTATLLAVD GADKPEELLY
1460 1470 1480 1490 1500
LITSPPRHGQ VEYVHSPGVP IASFSQMDIA GQTVCYIHKS RTAVPTDSFR
1510 1520 1530 1540 1550
FTISNGLQTQ RGVFEITLQT VDSALPVLTK NKRLRLAEGA MGLLSADHLQ
1560 1570 1580 1590 1600
LTDPDTPPEN LTFFLAQLPR HGYLFLRGKA LQHNFTQRDV DSGGVAYQHS
1610 1620 1630 1640 1650
GGGAREDYFT FLATDRKNQG FVVDGKVQKE PVRFTIQVDQ LDKAAPRITH
1660 1670 1680 1690 1700
LHSPTQVGLL KNGCYGIYIT SRVLKASDPD TEDDQIIFKI LRGPLYGRLE
1710 1720 1730 1740 1750
NTTTGEFIHE RFSQKDLSHK TILYIINPSL QVTSDILEFQ AMDPTGNTAT
1760 1770 1780 1790 1800
PQSLDLRWSY IEWAQTAYEV CENVGLLPLE VTRRGYPMDS AFVGVEVNQV
1810 1820 1830 1840 1850
SATVGKDFTV TPSKLLQFDP GMSTKMWNIA ITYDGLEEDD EVFEVILNSP
1860 1870 1880 1890 1900
VNAVLGTQTK AAVKILDSKG GRCHPSNSFN QSKHSTWGKG PWHPLPSGSS
1910 1920 1930 1940 1950
SLTTSGSPLL ERPPPSFTSG DALQGFGLTD LTQRKTMTQG NGKSVLPSSV
1960 1970 1980 1990 2000
CRNGTDTIYN YHGIVSLKLE GDRFSAHKRK AKISIVSQPQ RTIKVAELPL
2010 2020 2030 2040 2050
ADKVESTTDL HFLRQGLRPL FPKNCSVDLK GLFHFEESTH RLYQCDGISW
2060 2070 2080 2090 2100
KAWSPQTKGL EDRSCPGGWL LHSGYCHILV TRQKGTWTTA TRACREQHQG
2110 2120 2130 2140 2150
DLVTVLSRRH MQWLWAMSGR KPFWIGLKNQ PRTGHWEWIG GEPVAFTNWR
2160 2170 2180 2190
RGAPLHPKPG KNCALVQKRG QWQTKNCSKG KAHNFVCSRK L
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9Q5Z7 | E9Q5Z7_MOUSE | FRAS1-related extracellular matrix ... | Frem1 | 2,173 | Annotation score: | ||
F7D5I3 | F7D5I3_MOUSE | FRAS1-related extracellular matrix ... | Frem1 | 415 | Annotation score: |
Sequence cautioni
The sequence AAH88732 differs from that shown. Reason: Frameshift.Curated
The sequence BAC35069 differs from that shown. Reason: Erroneous initiation.Curated
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015032 | 729 – 747 | Missing in isoform 2. 1 PublicationAdd BLAST | 19 | |
Alternative sequenceiVSP_015033 | 1500 – 1544 | RFTIS…AMGLL → SRWGHKSPCRLPCLSLPDLP SAMDCRPSVGCLKSHCRLWT APCLC in isoform 3. 1 PublicationAdd BLAST | 45 | |
Alternative sequenceiVSP_015034 | 1545 – 2191 | Missing in isoform 3. 1 PublicationAdd BLAST | 647 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ616838 mRNA Translation: CAE83577.1 AB160986 mRNA Translation: BAD89014.1 AK052629 mRNA Translation: BAC35069.1 Different initiation. BC088732 mRNA Translation: AAH88732.1 Frameshift. |
CCDSi | CCDS38791.1 [Q684R7-1] CCDS57281.1 [Q684R7-2] |
RefSeqi | NP_001185740.1, NM_001198811.1 [Q684R7-2] NP_808531.2, NM_177863.4 [Q684R7-1] XP_006538076.1, XM_006538013.3 [Q684R7-2] XP_006538077.1, XM_006538014.2 [Q684R7-2] XP_006538078.1, XM_006538015.1 [Q684R7-2] XP_011248357.1, XM_011250055.2 [Q684R7-2] |
Genome annotation databases
Ensembli | ENSMUST00000071708; ENSMUSP00000071627; ENSMUSG00000059049 [Q684R7-1] ENSMUST00000107230; ENSMUSP00000102849; ENSMUSG00000059049 [Q684R7-2] |
GeneIDi | 329872 |
KEGGi | mmu:329872 |
UCSCi | uc008tkm.2, mouse [Q684R7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ616838 mRNA Translation: CAE83577.1 AB160986 mRNA Translation: BAD89014.1 AK052629 mRNA Translation: BAC35069.1 Different initiation. BC088732 mRNA Translation: AAH88732.1 Frameshift. |
CCDSi | CCDS38791.1 [Q684R7-1] CCDS57281.1 [Q684R7-2] |
RefSeqi | NP_001185740.1, NM_001198811.1 [Q684R7-2] NP_808531.2, NM_177863.4 [Q684R7-1] XP_006538076.1, XM_006538013.3 [Q684R7-2] XP_006538077.1, XM_006538014.2 [Q684R7-2] XP_006538078.1, XM_006538015.1 [Q684R7-2] XP_011248357.1, XM_011250055.2 [Q684R7-2] |
3D structure databases
SMRi | Q684R7 |
ModBasei | Search... |
Protein-protein interaction databases
DIPi | DIP-61243N |
IntActi | Q684R7, 2 interactors |
STRINGi | 10090.ENSMUSP00000071627 |
PTM databases
GlyGeni | Q684R7, 6 sites |
iPTMneti | Q684R7 |
PhosphoSitePlusi | Q684R7 |
Proteomic databases
PaxDbi | Q684R7 |
PRIDEi | Q684R7 |
ProteomicsDBi | 266856 [Q684R7-1] 266857 [Q684R7-2] 266858 [Q684R7-3] |
Protocols and materials databases
Antibodypediai | 42751, 88 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000071708; ENSMUSP00000071627; ENSMUSG00000059049 [Q684R7-1] ENSMUST00000107230; ENSMUSP00000102849; ENSMUSG00000059049 [Q684R7-2] |
GeneIDi | 329872 |
KEGGi | mmu:329872 |
UCSCi | uc008tkm.2, mouse [Q684R7-1] |
Organism-specific databases
CTDi | 158326 |
MGIi | MGI:2670972, Frem1 |
Phylogenomic databases
eggNOGi | KOG3597, Eukaryota |
GeneTreei | ENSGT00940000156990 |
InParanoidi | Q684R7 |
OMAi | MVYVTDG |
OrthoDBi | 13258at2759 |
PhylomeDBi | Q684R7 |
TreeFami | TF316876 |
Miscellaneous databases
BioGRID-ORCSi | 329872, 1 hit in 52 CRISPR screens |
ChiTaRSi | Frem1, mouse |
PROi | PR:Q684R7 |
RNActi | Q684R7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000059049, Expressed in lung and 185 other tissues |
ExpressionAtlasi | Q684R7, baseline and differential |
Genevisiblei | Q684R7, MM |
Family and domain databases
Gene3Di | 2.60.40.2030, 1 hit 3.10.100.10, 1 hit |
InterProi | View protein in InterPro IPR001304, C-type_lectin-like IPR016186, C-type_lectin-like/link_sf IPR038081, CalX-like_sf IPR003644, Calx_beta IPR039005, CSPG_rpt IPR016187, CTDL_fold IPR032825, FREM1 |
PANTHERi | PTHR45739:SF7, PTHR45739:SF7, 1 hit |
Pfami | View protein in Pfam PF03160, Calx-beta, 1 hit PF00059, Lectin_C, 1 hit |
SMARTi | View protein in SMART SM00034, CLECT, 1 hit |
SUPFAMi | SSF141072, SSF141072, 1 hit SSF56436, SSF56436, 1 hit |
PROSITEi | View protein in PROSITE PS50041, C_TYPE_LECTIN_2, 1 hit PS51854, CSPG, 12 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FREM1_MOUSE | |
Accessioni | Q684R7Primary (citable) accession number: Q684R7 Secondary accession number(s): Q5H8C2, Q5M7B3, Q8C732 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 16, 2005 |
Last sequence update: | October 11, 2004 | |
Last modified: | April 7, 2021 | |
This is version 127 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families