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Protein

FRAS1-related extracellular matrix protein 1

Gene

FREM1

Organism
Homo sapiens (Human)
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.By similarity

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.

GO - Molecular functioni

GO - Biological processi

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

Keywordsi

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

Enzyme and pathway databases

SIGNORiQ5H8C1

Names & Taxonomyi

Protein namesi
Recommended name:
FRAS1-related extracellular matrix protein 1Curated
Alternative name(s):
Protein QBRICK
Gene namesi
Name:FREM1Imported
Synonyms:C9orf143, C9orf145, C9orf154
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000164946.19
HGNCiHGNC:23399 FREM1
MIMi608944 gene
neXtProtiNX_Q5H8C1

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

Bifid nose, with or without anorectal and renal anomalies (BNAR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
See also OMIM:608980
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063422649R → W in BNAR. 1 PublicationCorresponds to variant dbSNP:rs121912609EnsemblClinVar.1
Natural variantiVAR_0634231440G → S in BNAR. 1 PublicationCorresponds to variant dbSNP:rs121912610EnsemblClinVar.1
Manitoba oculotrichoanal syndrome (MOTA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis.
See also OMIM:248450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078339102D → G in MOTA; unknown pathological significance. 1 Publication1
Natural variantiVAR_0664121324L → R in MOTA. 1 PublicationCorresponds to variant dbSNP:rs281875281EnsemblClinVar.1
Natural variantiVAR_0664132091V → I in MOTA. 1 PublicationCorresponds to variant dbSNP:rs281875282EnsemblClinVar.1
Trigonocephaly 2 (TRIGNO2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head.
See also OMIM:614485
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067916498R → Q in TRIGNO2. 1 PublicationCorresponds to variant dbSNP:rs184394424EnsemblClinVar.1
Natural variantiVAR_0679171500E → V in TRIGNO2. 1 PublicationCorresponds to variant dbSNP:rs281875280EnsemblClinVar.1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi158326
GeneReviewsiFREM1
MalaCardsiFREM1
MIMi248450 phenotype
608980 phenotype
614485 phenotype
OpenTargetsiENSG00000164946
Orphaneti217266 BNAR syndrome
3366 Isolated trigonocephaly
2717 Oculotrichoanal syndrome
93100 Renal agenesis, unilateral
PharmGKBiPA134892147

Polymorphism and mutation databases

BioMutaiFREM1
DMDMi215274141

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000001012222 – 2179FRAS1-related extracellular matrix protein 1Add BLAST2158

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi335N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi560N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi622N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1014N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1566N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2151 ↔ 2165PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ5H8C1
MaxQBiQ5H8C1
PaxDbiQ5H8C1
PeptideAtlasiQ5H8C1
PRIDEiQ5H8C1
ProteomicsDBi62849
62850 [Q5H8C1-2]
62851 [Q5H8C1-3]
62852 [Q5H8C1-4]

PTM databases

iPTMnetiQ5H8C1
PhosphoSitePlusiQ5H8C1

Expressioni

Gene expression databases

BgeeiENSG00000164946 Expressed in 122 organ(s), highest expression level in kidney
CleanExiHS_FREM1
ExpressionAtlasiQ5H8C1 baseline and differential
GenevisibleiQ5H8C1 HS

Interactioni

Protein-protein interaction databases

BioGridi127670, 2 interactors
CORUMiQ5H8C1
STRINGi9606.ENSP00000370262

Structurei

3D structure databases

ProteinModelPortaliQ5H8C1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati296 – 390CSPG 1PROSITE-ProRule annotationAdd BLAST95
Repeati413 – 500CSPG 2PROSITE-ProRule annotationAdd BLAST88
Repeati521 – 615CSPG 3PROSITE-ProRule annotationAdd BLAST95
Repeati642 – 754CSPG 4PROSITE-ProRule annotationAdd BLAST113
Repeati776 – 867CSPG 5PROSITE-ProRule annotationAdd BLAST92
Repeati887 – 982CSPG 6PROSITE-ProRule annotationAdd BLAST96
Repeati1024 – 1126CSPG 7PROSITE-ProRule annotationAdd BLAST103
Repeati1147 – 1254CSPG 8PROSITE-ProRule annotationAdd BLAST108
Repeati1275 – 1372CSPG 9PROSITE-ProRule annotationAdd BLAST98
Repeati1393 – 1485CSPG 10PROSITE-ProRule annotationAdd BLAST93
Repeati1506 – 1596CSPG 11PROSITE-ProRule annotationAdd BLAST91
Repeati1628 – 1724CSPG 12PROSITE-ProRule annotationAdd BLAST97
Domaini1731 – 1830Calx-betaAdd BLAST100
Domaini2060 – 2174C-type lectinPROSITE-ProRule annotationAdd BLAST115

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi199 – 201Cell attachment siteBy similarity3
Motifi1907 – 1909Cell attachment siteSequence analysis3

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

eggNOGiENOG410IR0E Eukaryota
ENOG410ZHZ2 LUCA
GeneTreeiENSGT00550000074429
HOGENOMiHOG000082447
HOVERGENiHBG080222
InParanoidiQ5H8C1
OMAiKKHLHFI
OrthoDBiEOG091G02EJ
PhylomeDBiQ5H8C1
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 (4+)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5H8C1-1) [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
MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA
60 70 80 90 100
IPKEKDACKV EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD
110 120 130 140 150
EDTVKLRLYR FTERDTFIET FILWVYLLEP DCNIIHMSNN VLEVPEFNGL
160 170 180 190 200
SQAIDKNLLR FDYDRMASLE CTVSLDTART RLPAHGQMVL GEPRPEEPRG
210 220 230 240 250
DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF LLMGLRYQHL
260 270 280 290 300
DPPSPNIDYI SIQLDLTDTR SKIVYKSESA WLPVYIRAGI PNQIPKAAFM
310 320 330 340 350
AVFILEVDQF ILTSLTTSVL DCEEDETPKP LLVFNITKAP LQGYVTHLLD
360 370 380 390 400
HTRPISSFTW KDLSDMQIAY QPPNSSHSER RHDEVELEVY DFFFERSAPM
410 420 430 440 450
TVHISIRTAD TNAPRVSWNT GLSLLEGQSR AITWEQFQVV DNDDIGAVRL
460 470 480 490 500
VTVGGLQHGW LTLRGGKGFL FTVADLQAGV VRYHHDDSDS TKDFVVFRIF
510 520 530 540 550
DGHHSIRHKF PINVLPKDDS PPFLITNVVI ELEEGQTILI QGSMLRASDV
560 570 580 590 600
DASDDYIFFN ITKPPQAGEI MKKPGPGLIG YPVHGFLQRD LFNGIIYYRH
610 620 630 640 650
FGGEIFEDSF QFVLWDSHEP PNLSVPQVAT IHITPVDDQL PKEAPGVSRH
660 670 680 690 700
LVVKETEVAY ITKKQLHFID SESYDRELVY TITTPPFFSF SHRHLDAGKL
710 720 730 740 750
FMVDSIPKVV KNPTALELRS FTQHAVNYMK VAYMPPMQDI GPHCRDVQFT
760 770 780 790 800
FSVSNQHGGT LHGICFNITI LPVDNQVPEA FTNPLKVTEG GQSIISTEHI
810 820 830 840 850
LISDADTKLD NIDLSLRELP LHGRVELNGF PLNSGGTFSW GDLHTLKVRY
860 870 880 890 900
QHDGTEVLQD DLLLEVTDGT NSAEFVLHVE VFPVNDEPPV LKADLMPVMN
910 920 930 940 950
CSEGGEVVIT SEYIFATDVD SDNLKLMFVI AREPQHGVVR RAGVTVDQFS
960 970 980 990 1000
QRDVISEAVT YKHTGGEIGL MPCFDTITLV VSDGEAGPFV NGCCYNGPNP
1010 1020 1030 1040 1050
SVPLHASFPV YDLNITVYPV DNQPPSIAIG PVFVVDEGCS TALTVNHLSA
1060 1070 1080 1090 1100
TDPDTAADDL EFVLVSPPQF GYLENILPSV GFEKSNIGIS IDSFQWKDMN
1110 1120 1130 1140 1150
AFHINYVQSR HLRIEPTADQ FTVYVTDGKH HSLEIPFSII INPTNDEAPD
1160 1170 1180 1190 1200
FVVQNITVCE GQMKELDSSI ISAVDLDIPQ DALLFSITQK PRHGLLIDRG
1210 1220 1230 1240 1250
FSKDFSENKQ PANPHQKHAP VHSFSMELLK TGMRLTYMHD DSESLADDFT
1260 1270 1280 1290 1300
IQLSDGKHKI LKTISVEVIP VNDEKPMLSK KAEIAMNMGE TRIISSAILS
1310 1320 1330 1340 1350
AIDEDSPREK IYYVFERLPQ NGQLQLKIGR DWVPLSPGMK CTQEEVDLNL
1360 1370 1380 1390 1400
LRYTHTGAMD SQNQDSFTFY LWDGNNRSPA LDCQITIKDM EKGDIVILTK
1410 1420 1430 1440 1450
PLVVSKGDRG FLTTTTLLAV DGTDKPEELL YVITSPPRYG QIEYVHYPGV
1460 1470 1480 1490 1500
PITNFSQMDV VGQTVCYVHK SKVTVSSDRF RFIISNGLRT EHGVFEITLE
1510 1520 1530 1540 1550
TVDRALPVVT RNKGLRLAQG AVGLLSPDLL QLTDPDTPAE NLTFLLVQLP
1560 1570 1580 1590 1600
QHGQLYLWGT GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC FTFMATDGTN
1610 1620 1630 1640 1650
QGFIVNGRVW EEPVLFTIQV DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY
1660 1670 1680 1690 1700
ITSRVLKASD PDTEDDQIIF KILQGPKHGH LENTTTGEFI HEKFSQKDLN
1710 1720 1730 1740 1750
SKTILYIINP SLEVNSDTVE FQIMDPTGNS ATPQILELKW SHIEWSQTEY
1760 1770 1780 1790 1800
EVCENVGLLP LEIIRRGYSM DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF
1810 1820 1830 1840 1850
DPGMSTKMWN IAITYDGLEE DDEVFEVILN SPVNAVLGTK TKAAVKILDS
1860 1870 1880 1890 1900
KGGQCHPSYS SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF HLERRPLPSS
1910 1920 1930 1940 1950
MQLAVIRGDT LRGFDSTDLS QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH
1960 1970 1980 1990 2000
GIVSLKLEDD SFPTHKRKAK VSIISQPQKT IKVAELPQAD KVESTTDSHF
2010 2020 2030 2040 2050
PRQDQLPSFP KNCTLELKGL FHFEEGIQKL YQCNGIAWKA WSPQTKDVED
2060 2070 2080 2090 2100
KSCPAGWHQH SGYCHILITE QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR
2110 2120 2130 2140 2150
WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE PVAFTNGRRG PSQRSKLGKS
2160 2170
CVLVQRQGKW QTKDCRRAKP HNYVCSRKL
Length:2,179
Mass (Da):244,154
Last modified:November 25, 2008 - v3
Checksum:i9C1C464DF95D2194
GO
Isoform 2 (identifier: Q5H8C1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1464: Missing.
     1465-1480: VCYVHKSKVTVSSDRF → MVTQESMLKAALPLFT

Note: No experimental confirmation available.
Show »
Length:715
Mass (Da):80,212
Checksum:i6C5535B7ADD46BAA
GO
Isoform 3 (identifier: Q5H8C1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1803: Missing.

Note: No experimental confirmation available.
Show »
Length:376
Mass (Da):42,501
Checksum:i5EA052AFC7866A1D
GO
Isoform 4 (identifier: Q5H8C1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1587: Missing.
     1588-1619: TDCFTFMATDGTNQGFIVNGRVWEEPVLFTIQ → MLDESLAVRRSKKCKEMIMHWEKKEDIDIVNT
     1804-1809: MSTKMW → SSILCL
     1810-2179: Missing.

Note: No experimental confirmation available.
Show »
Length:222
Mass (Da):25,008
Checksum:i33B5711E265D3BF4
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WE85F8WE85_HUMAN
FRAS1-related extracellular matrix ...
FREM1
1,335Annotation score:

Sequence cautioni

The sequence AAH31064 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1735I → N in AAH31064 (PubMed:15489334).Curated1
Sequence conflicti1861S → A in CAE46048 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078339102D → G in MOTA; unknown pathological significance. 1 Publication1
Natural variantiVAR_047317439V → L1 PublicationCorresponds to variant dbSNP:rs2779500EnsemblClinVar.1
Natural variantiVAR_067916498R → Q in TRIGNO2. 1 PublicationCorresponds to variant dbSNP:rs184394424EnsemblClinVar.1
Natural variantiVAR_047318499I → V. Corresponds to variant dbSNP:rs1353223EnsemblClinVar.1
Natural variantiVAR_063422649R → W in BNAR. 1 PublicationCorresponds to variant dbSNP:rs121912609EnsemblClinVar.1
Natural variantiVAR_047319803S → Y. Corresponds to variant dbSNP:rs7023244EnsemblClinVar.1
Natural variantiVAR_047320863L → V1 PublicationCorresponds to variant dbSNP:rs7041710EnsemblClinVar.1
Natural variantiVAR_0473211202S → R. Corresponds to variant dbSNP:rs16932300EnsemblClinVar.1
Natural variantiVAR_0473221273D → E. Corresponds to variant dbSNP:rs7025814EnsemblClinVar.1
Natural variantiVAR_0664121324L → R in MOTA. 1 PublicationCorresponds to variant dbSNP:rs281875281EnsemblClinVar.1
Natural variantiVAR_0634231440G → S in BNAR. 1 PublicationCorresponds to variant dbSNP:rs121912610EnsemblClinVar.1
Natural variantiVAR_0679171500E → V in TRIGNO2. 1 PublicationCorresponds to variant dbSNP:rs281875280EnsemblClinVar.1
Natural variantiVAR_0473231502V → M. Corresponds to variant dbSNP:rs10961700EnsemblClinVar.1
Natural variantiVAR_0473241576N → I. Corresponds to variant dbSNP:rs2101770EnsemblClinVar.1
Natural variantiVAR_0664132091V → I in MOTA. 1 PublicationCorresponds to variant dbSNP:rs281875282EnsemblClinVar.1
Natural variantiVAR_0473252143Q → P2 PublicationsCorresponds to variant dbSNP:rs10961689EnsemblClinVar.1
Natural variantiVAR_0473262174V → G1 PublicationCorresponds to variant dbSNP:rs17856912Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0150251 – 1803Missing in isoform 3. 1 PublicationAdd BLAST1803
Alternative sequenceiVSP_0150261 – 1587Missing in isoform 4. 1 PublicationAdd BLAST1587
Alternative sequenceiVSP_0472831 – 1464Missing in isoform 2. 1 PublicationAdd BLAST1464
Alternative sequenceiVSP_0472841465 – 1480VCYVH…SSDRF → MVTQESMLKAALPLFT in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_0150291588 – 1619TDCFT…LFTIQ → MLDESLAVRRSKKCKEMIMH WEKKEDIDIVNT in isoform 4. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_0150301804 – 1809MSTKMW → SSILCL in isoform 4. 1 Publication6
Alternative sequenceiVSP_0150311810 – 2179Missing in isoform 4. 1 PublicationAdd BLAST370

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB160987 mRNA Translation: BAD89015.1
AK058190 mRNA Translation: BAB71709.1
BX641104 mRNA Translation: CAE46048.1
AL354672 Genomic DNA No translation available.
AL390732 Genomic DNA No translation available.
AL512643 Genomic DNA No translation available.
BC031064 mRNA Translation: AAH31064.2 Different initiation.
CCDSiCCDS47952.1 [Q5H8C1-1]
CCDS55293.1 [Q5H8C1-2]
RefSeqiNP_001171175.1, NM_001177704.1 [Q5H8C1-2]
NP_659403.4, NM_144966.5 [Q5H8C1-1]
XP_005251439.1, XM_005251382.3 [Q5H8C1-1]
XP_005251441.1, XM_005251384.4 [Q5H8C1-2]
XP_006716792.1, XM_006716729.3 [Q5H8C1-2]
UniGeneiHs.50850

Genome annotation databases

EnsembliENST00000380880; ENSP00000370262; ENSG00000164946 [Q5H8C1-1]
ENST00000380894; ENSP00000370278; ENSG00000164946 [Q5H8C1-2]
ENST00000422223; ENSP00000412940; ENSG00000164946 [Q5H8C1-1]
ENST00000427623; ENSP00000412597; ENSG00000164946 [Q5H8C1-4]
GeneIDi158326
KEGGihsa:158326
UCSCiuc003zll.4 human [Q5H8C1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mendelian genes FRAS1 related extracellular matrix 1 (FREM1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB160987 mRNA Translation: BAD89015.1
AK058190 mRNA Translation: BAB71709.1
BX641104 mRNA Translation: CAE46048.1
AL354672 Genomic DNA No translation available.
AL390732 Genomic DNA No translation available.
AL512643 Genomic DNA No translation available.
BC031064 mRNA Translation: AAH31064.2 Different initiation.
CCDSiCCDS47952.1 [Q5H8C1-1]
CCDS55293.1 [Q5H8C1-2]
RefSeqiNP_001171175.1, NM_001177704.1 [Q5H8C1-2]
NP_659403.4, NM_144966.5 [Q5H8C1-1]
XP_005251439.1, XM_005251382.3 [Q5H8C1-1]
XP_005251441.1, XM_005251384.4 [Q5H8C1-2]
XP_006716792.1, XM_006716729.3 [Q5H8C1-2]
UniGeneiHs.50850

3D structure databases

ProteinModelPortaliQ5H8C1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127670, 2 interactors
CORUMiQ5H8C1
STRINGi9606.ENSP00000370262

PTM databases

iPTMnetiQ5H8C1
PhosphoSitePlusiQ5H8C1

Polymorphism and mutation databases

BioMutaiFREM1
DMDMi215274141

Proteomic databases

EPDiQ5H8C1
MaxQBiQ5H8C1
PaxDbiQ5H8C1
PeptideAtlasiQ5H8C1
PRIDEiQ5H8C1
ProteomicsDBi62849
62850 [Q5H8C1-2]
62851 [Q5H8C1-3]
62852 [Q5H8C1-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380880; ENSP00000370262; ENSG00000164946 [Q5H8C1-1]
ENST00000380894; ENSP00000370278; ENSG00000164946 [Q5H8C1-2]
ENST00000422223; ENSP00000412940; ENSG00000164946 [Q5H8C1-1]
ENST00000427623; ENSP00000412597; ENSG00000164946 [Q5H8C1-4]
GeneIDi158326
KEGGihsa:158326
UCSCiuc003zll.4 human [Q5H8C1-1]

Organism-specific databases

CTDi158326
DisGeNETi158326
EuPathDBiHostDB:ENSG00000164946.19
GeneCardsiFREM1
GeneReviewsiFREM1
HGNCiHGNC:23399 FREM1
MalaCardsiFREM1
MIMi248450 phenotype
608944 gene
608980 phenotype
614485 phenotype
neXtProtiNX_Q5H8C1
OpenTargetsiENSG00000164946
Orphaneti217266 BNAR syndrome
3366 Isolated trigonocephaly
2717 Oculotrichoanal syndrome
93100 Renal agenesis, unilateral
PharmGKBiPA134892147
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR0E Eukaryota
ENOG410ZHZ2 LUCA
GeneTreeiENSGT00550000074429
HOGENOMiHOG000082447
HOVERGENiHBG080222
InParanoidiQ5H8C1
OMAiKKHLHFI
OrthoDBiEOG091G02EJ
PhylomeDBiQ5H8C1
TreeFamiTF316876

Enzyme and pathway databases

SIGNORiQ5H8C1

Miscellaneous databases

ChiTaRSiFREM1 human
GeneWikiiFREM1
GenomeRNAii158326
PROiPR:Q5H8C1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164946 Expressed in 122 organ(s), highest expression level in kidney
CleanExiHS_FREM1
ExpressionAtlasiQ5H8C1 baseline and differential
GenevisibleiQ5H8C1 HS

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_HUMAN
AccessioniPrimary (citable) accession number: Q5H8C1
Secondary accession number(s): B7ZBX4
, Q5VV00, Q5VV01, Q6MZI4, Q8NEG9, Q96LI3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 139 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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