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Protein

FRAS1-related extracellular matrix protein 1

Gene

Frem1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

  • cell communication Source: InterPro
  • cell-matrix adhesion Source: MGI
  • craniofacial suture morphogenesis Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein
Biological processCell adhesion
LigandCalcium, Lectin, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
FRAS1-related extracellular matrix protein 1
Alternative name(s):
Protein QBRICK
Gene namesi
Name:Frem1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 4

Organism-specific databases

MGIiMGI:2670972 Frem1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & 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 keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi207D → E: Impairs cell adhesion ability in vitro. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
ChainiPRO_000001012330 – 2191FRAS1-related extracellular matrix protein 1Add BLAST2162

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi341N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi566N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi628N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1039N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1180N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1584N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2163 ↔ 2177PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ684R7
PRIDEiQ684R7

PTM databases

iPTMnetiQ684R7
PhosphoSitePlusiQ684R7

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 E12.5 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

BgeeiENSMUSG00000059049 Expressed in 162 organ(s), highest expression level in lung
CleanExiMM_FREM1
ExpressionAtlasiQ684R7 baseline and differential
GenevisibleiQ684R7 MM

Interactioni

Protein-protein interaction databases

DIPiDIP-61243N
IntActiQ684R7, 2 interactors
STRINGi10090.ENSMUSP00000071627

Structurei

3D structure databases

ProteinModelPortaliQ684R7
SMRiQ684R7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati300 – 394CSPG 1PROSITE-ProRule annotationAdd BLAST95
Repeati419 – 506CSPG 2PROSITE-ProRule annotationAdd BLAST88
Repeati527 – 621CSPG 3PROSITE-ProRule annotationAdd BLAST95
Repeati648 – 779CSPG 4PROSITE-ProRule annotationAdd BLAST132
Repeati801 – 892CSPG 5PROSITE-ProRule annotationAdd BLAST92
Repeati912 – 1007CSPG 6PROSITE-ProRule annotationAdd BLAST96
Repeati1049 – 1151CSPG 7PROSITE-ProRule annotationAdd BLAST103
Repeati1172 – 1273CSPG 8PROSITE-ProRule annotationAdd BLAST102
Repeati1294 – 1391CSPG 9PROSITE-ProRule annotationAdd BLAST98
Repeati1412 – 1504CSPG 10PROSITE-ProRule annotationAdd BLAST93
Repeati1525 – 1614CSPG 11PROSITE-ProRule annotationAdd BLAST90
Repeati1650 – 1742CSPG 12PROSITE-ProRule annotationAdd BLAST93
Domaini1749 – 1848Calx-betaAdd BLAST100
Domaini2072 – 2186C-type lectinPROSITE-ProRule annotationAdd BLAST115

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi205 – 207Cell attachment site3

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, Signal

Phylogenomic databases

eggNOGiENOG410KD85 Eukaryota
ENOG410ZHZ2 LUCA
GeneTreeiENSGT00550000074429
HOGENOMiHOG000231310
HOVERGENiHBG080222
InParanoidiQ684R7
OMAiKKHLHFI
OrthoDBiEOG091G02EJ
PhylomeDBiQ684R7
TreeFamiTF316876

Family and domain databases

Gene3Di2.60.40.2030, 1 hit
3.10.100.10, 1 hit
InterProiView 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
PANTHERiPTHR11878:SF24 PTHR11878:SF24, 1 hit
PfamiView protein in Pfam
PF03160 Calx-beta, 1 hit
PF00059 Lectin_C, 1 hit
SMARTiView protein in SMART
SM00034 CLECT, 1 hit
SUPFAMiSSF141072 SSF141072, 1 hit
SSF56436 SSF56436, 1 hit
PROSITEiView protein in PROSITE
PS50041 C_TYPE_LECTIN_2, 1 hit
PS51854 CSPG, 12 hits

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
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
Length:2,191
Mass (Da):244,544
Last modified:October 11, 2004 - v1
Checksum:iA7D18FD3E32FD3C3
GO
Isoform 2 (identifier: Q684R7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     729-747: Missing.

Show »
Length:2,172
Mass (Da):242,557
Checksum:i871EAAAF66E08C80
GO
Isoform 3 (identifier: Q684R7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1500-1544: RFTISNGLQT...RLAEGAMGLL → SRWGHKSPCR...CRLWTAPCLC
     1545-2191: Missing.

Note: No experimental confirmation available.
Show »
Length:1,544
Mass (Da):172,191
Checksum:i9E2B1C13F4F06715
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9Q5Z7E9Q5Z7_MOUSE
FRAS1-related extracellular matrix ...
Frem1
2,173Annotation score:
F7D5I3F7D5I3_MOUSE
FRAS1-related extracellular matrix ...
Frem1
415Annotation score:

Sequence cautioni

The sequence AAH88732 differs from that shown. Reason: Frameshift at position 1796.Curated
The sequence BAC35069 differs from that shown. Reason: Erroneous initiation.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015032729 – 747Missing in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0150331500 – 1544RFTIS…AMGLL → SRWGHKSPCRLPCLSLPDLP SAMDCRPSVGCLKSHCRLWT APCLC in isoform 3. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_0150341545 – 2191Missing in isoform 3. 1 PublicationAdd BLAST647

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.
CCDSiCCDS38791.1 [Q684R7-1]
CCDS57281.1 [Q684R7-2]
RefSeqiNP_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]
UniGeneiMm.242337

Genome annotation databases

EnsembliENSMUST00000071708; ENSMUSP00000071627; ENSMUSG00000059049 [Q684R7-1]
ENSMUST00000107230; ENSMUSP00000102849; ENSMUSG00000059049 [Q684R7-2]
GeneIDi329872
KEGGimmu:329872
UCSCiuc008tkm.2 mouse [Q684R7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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.
CCDSiCCDS38791.1 [Q684R7-1]
CCDS57281.1 [Q684R7-2]
RefSeqiNP_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]
UniGeneiMm.242337

3D structure databases

ProteinModelPortaliQ684R7
SMRiQ684R7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-61243N
IntActiQ684R7, 2 interactors
STRINGi10090.ENSMUSP00000071627

PTM databases

iPTMnetiQ684R7
PhosphoSitePlusiQ684R7

Proteomic databases

PaxDbiQ684R7
PRIDEiQ684R7

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000071708; ENSMUSP00000071627; ENSMUSG00000059049 [Q684R7-1]
ENSMUST00000107230; ENSMUSP00000102849; ENSMUSG00000059049 [Q684R7-2]
GeneIDi329872
KEGGimmu:329872
UCSCiuc008tkm.2 mouse [Q684R7-1]

Organism-specific databases

CTDi158326
MGIiMGI:2670972 Frem1

Phylogenomic databases

eggNOGiENOG410KD85 Eukaryota
ENOG410ZHZ2 LUCA
GeneTreeiENSGT00550000074429
HOGENOMiHOG000231310
HOVERGENiHBG080222
InParanoidiQ684R7
OMAiKKHLHFI
OrthoDBiEOG091G02EJ
PhylomeDBiQ684R7
TreeFamiTF316876

Miscellaneous databases

ChiTaRSiFrem1 mouse
PROiPR:Q684R7
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000059049 Expressed in 162 organ(s), highest expression level in lung
CleanExiMM_FREM1
ExpressionAtlasiQ684R7 baseline and differential
GenevisibleiQ684R7 MM

Family and domain databases

Gene3Di2.60.40.2030, 1 hit
3.10.100.10, 1 hit
InterProiView 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
PANTHERiPTHR11878:SF24 PTHR11878:SF24, 1 hit
PfamiView protein in Pfam
PF03160 Calx-beta, 1 hit
PF00059 Lectin_C, 1 hit
SMARTiView protein in SMART
SM00034 CLECT, 1 hit
SUPFAMiSSF141072 SSF141072, 1 hit
SSF56436 SSF56436, 1 hit
PROSITEiView protein in PROSITE
PS50041 C_TYPE_LECTIN_2, 1 hit
PS51854 CSPG, 12 hits
ProtoNetiSearch...

Entry informationi

Entry nameiFREM1_MOUSE
AccessioniPrimary (citable) accession number: Q684R7
Secondary accession number(s): Q5H8C2, Q5M7B3, Q8C732
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: October 11, 2004
Last modified: November 7, 2018
This is version 112 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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