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Protein

FRAS1-related extracellular matrix protein 1

Gene

FREM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Molecular functioni

GO - Biological processi

  • cell communication Source: InterPro
  • cell-matrix adhesion Source: Ensembl
  • craniofacial suture morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Lectin, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
FRAS1-related extracellular matrix protein 1
Alternative name(s):
Protein QBRICK
Gene namesi
Name:FREM1
Synonyms:C9orf143, C9orf145, C9orf154
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:23399. FREM1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs121912609dbSNPEnsembl.1
Natural variantiVAR_0634231440G → S in BNAR. 1 PublicationCorresponds to variant rs121912610dbSNPEnsembl.1
Manitoba oculotrichoanal syndrome (MOTA)1 Publication
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_0664121324L → R in MOTA. 1 PublicationCorresponds to variant rs281875281dbSNPEnsembl.1
Natural variantiVAR_0664132091V → I in MOTA. 1 PublicationCorresponds to variant rs281875282dbSNPEnsembl.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 rs184394424dbSNPEnsembl.1
Natural variantiVAR_0679171500E → V in TRIGNO2. 1 PublicationCorresponds to variant rs281875280dbSNPEnsembl.1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi158326.
MalaCardsiFREM1.
MIMi248450. phenotype.
608980. phenotype.
614485. phenotype.
OpenTargetsiENSG00000164946.
Orphaneti217266. BNAR syndrome.
3366. Isolated trigonocephaly.
2717. Oculotrichoanal syndrome.
93100. Unilateral renal agenesis.
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...)Sequence analysis1
Glycosylationi560N-linked (GlcNAc...)Sequence analysis1
Glycosylationi622N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1014N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1566N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi2151 ↔ 2165PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ5H8C1.
PaxDbiQ5H8C1.
PeptideAtlasiQ5H8C1.
PRIDEiQ5H8C1.

PTM databases

iPTMnetiQ5H8C1.
PhosphoSitePlusiQ5H8C1.

Expressioni

Gene expression databases

BgeeiENSG00000164946.
CleanExiHS_FREM1.
ExpressionAtlasiQ5H8C1. baseline and differential.
GenevisibleiQ5H8C1. HS.

Interactioni

Protein-protein interaction databases

BioGridi127670. 2 interactors.
STRINGi9606.ENSP00000370262.

Structurei

3D structure databases

ProteinModelPortaliQ5H8C1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati275 – 394CSPG 1Add BLAST120
Repeati395 – 502CSPG 2Add BLAST108
Repeati503 – 621CSPG 3Add BLAST119
Repeati622 – 758CSPG 4Add BLAST137
Repeati759 – 869CSPG 5Add BLAST111
Repeati870 – 1005CSPG 6Add BLAST136
Repeati1006 – 1129CSPG 7Add BLAST124
Repeati1130 – 1256CSPG 8Add BLAST127
Repeati1257 – 1375CSPG 9Add BLAST119
Repeati1376 – 1487CSPG 10Add BLAST112
Repeati1488 – 1608CSPG 11Add BLAST121
Repeati1609 – 1729CSPG 12Add BLAST121
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
Contains 1 C-type lectin domain.PROSITE-ProRule annotation
Contains 1 Calx-beta domain.Curated
Contains 12 CSPG (NG2) repeats.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR0E. Eukaryota.
ENOG410ZHZ2. LUCA.
GeneTreeiENSGT00550000074429.
HOGENOMiHOG000082447.
HOVERGENiHBG080222.
InParanoidiQ5H8C1.
OMAiWNIAITY.
OrthoDBiEOG091G02EJ.
PhylomeDBiQ5H8C1.
TreeFamiTF316876.

Family and domain databases

Gene3Di3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin-like.
IPR016186. C-type_lectin-like/link.
IPR003644. Calx_beta.
IPR016187. CTDL_fold.
IPR032825. FREM1.
[Graphical view]
PANTHERiPTHR11878:SF24. PTHR11878:SF24. 1 hit.
PfamiPF03160. Calx-beta. 1 hit.
PF00059. Lectin_C. 1 hit.
[Graphical view]
SMARTiSM00034. CLECT. 1 hit.
[Graphical view]
SUPFAMiSSF56436. SSF56436. 1 hit.
PROSITEiPS50041. C_TYPE_LECTIN_2. 1 hit.
[Graphical view]

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

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

Sequence cautioni

The sequence AAH31064 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH71826 differs from that shown. Reason: Erroneous gene model prediction.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_047317439V → L.1 PublicationCorresponds to variant rs2779500dbSNPEnsembl.1
Natural variantiVAR_067916498R → Q in TRIGNO2. 1 PublicationCorresponds to variant rs184394424dbSNPEnsembl.1
Natural variantiVAR_047318499I → V.Corresponds to variant rs1353223dbSNPEnsembl.1
Natural variantiVAR_063422649R → W in BNAR. 1 PublicationCorresponds to variant rs121912609dbSNPEnsembl.1
Natural variantiVAR_047319803S → Y.Corresponds to variant rs7023244dbSNPEnsembl.1
Natural variantiVAR_047320863L → V.1 PublicationCorresponds to variant rs7041710dbSNPEnsembl.1
Natural variantiVAR_0473211202S → R.Corresponds to variant rs16932300dbSNPEnsembl.1
Natural variantiVAR_0473221273D → E.Corresponds to variant rs7025814dbSNPEnsembl.1
Natural variantiVAR_0664121324L → R in MOTA. 1 PublicationCorresponds to variant rs281875281dbSNPEnsembl.1
Natural variantiVAR_0634231440G → S in BNAR. 1 PublicationCorresponds to variant rs121912610dbSNPEnsembl.1
Natural variantiVAR_0679171500E → V in TRIGNO2. 1 PublicationCorresponds to variant rs281875280dbSNPEnsembl.1
Natural variantiVAR_0473231502V → M.Corresponds to variant rs10961700dbSNPEnsembl.1
Natural variantiVAR_0473241576N → I.Corresponds to variant rs2101770dbSNPEnsembl.1
Natural variantiVAR_0664132091V → I in MOTA. 1 PublicationCorresponds to variant rs281875282dbSNPEnsembl.1
Natural variantiVAR_0473252143Q → P.2 PublicationsCorresponds to variant rs10961689dbSNPEnsembl.1
Natural variantiVAR_0473262174V → G.1 PublicationCorresponds to variant rs17856912dbSNPEnsembl.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.
AL512643, AL390732 Genomic DNA. Translation: CAH71826.2. Sequence problems.
AL390732, AL512643 Genomic DNA. Translation: CAH73848.1.
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

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.
AL512643, AL390732 Genomic DNA. Translation: CAH71826.2. Sequence problems.
AL390732, AL512643 Genomic DNA. Translation: CAH73848.1.
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.
STRINGi9606.ENSP00000370262.

PTM databases

iPTMnetiQ5H8C1.
PhosphoSitePlusiQ5H8C1.

Polymorphism and mutation databases

BioMutaiFREM1.
DMDMi215274141.

Proteomic databases

MaxQBiQ5H8C1.
PaxDbiQ5H8C1.
PeptideAtlasiQ5H8C1.
PRIDEiQ5H8C1.

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.
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. Unilateral renal agenesis.
PharmGKBiPA134892147.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR0E. Eukaryota.
ENOG410ZHZ2. LUCA.
GeneTreeiENSGT00550000074429.
HOGENOMiHOG000082447.
HOVERGENiHBG080222.
InParanoidiQ5H8C1.
OMAiWNIAITY.
OrthoDBiEOG091G02EJ.
PhylomeDBiQ5H8C1.
TreeFamiTF316876.

Miscellaneous databases

ChiTaRSiFREM1. human.
GeneWikiiFREM1.
GenomeRNAii158326.
PROiQ5H8C1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164946.
CleanExiHS_FREM1.
ExpressionAtlasiQ5H8C1. baseline and differential.
GenevisibleiQ5H8C1. HS.

Family and domain databases

Gene3Di3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin-like.
IPR016186. C-type_lectin-like/link.
IPR003644. Calx_beta.
IPR016187. CTDL_fold.
IPR032825. FREM1.
[Graphical view]
PANTHERiPTHR11878:SF24. PTHR11878:SF24. 1 hit.
PfamiPF03160. Calx-beta. 1 hit.
PF00059. Lectin_C. 1 hit.
[Graphical view]
SMARTiSM00034. CLECT. 1 hit.
[Graphical view]
SUPFAMiSSF56436. SSF56436. 1 hit.
PROSITEiPS50041. C_TYPE_LECTIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFREM1_HUMAN
AccessioniPrimary (citable) accession number: Q5H8C1
Secondary accession number(s): B7ZBX4
, Q5VV00, Q5VV01, Q6MZI4, Q8NEG9, Q96LI3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 124 of the entry and version 3 of the sequence. [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

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.