Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q5H8C1

- FREM1_HUMAN

UniProt

Q5H8C1 - FREM1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

FRAS1-related extracellular matrix protein 1

Gene

FREM1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. carbohydrate binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. cell communication Source: InterPro
  2. cell-matrix adhesion Source: Ensembl
  3. 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
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:23399. FREM1.

Subcellular locationi

Secretedextracellular spaceextracellular matrixbasement membrane By similarity
Note: Localizes at the basement membrane zone of embryonic epidermis and hair follicles.By similarity

GO - Cellular componenti

  1. basement membrane Source: UniProtKB-KW
  2. integral component of membrane Source: InterPro
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) [MIM:608980]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti649 – 6491R → W in BNAR. 1 Publication
Corresponds to variant rs121912609 [ dbSNP | Ensembl ].
VAR_063422
Natural varianti1440 – 14401G → S in BNAR. 1 Publication
Corresponds to variant rs121912610 [ dbSNP | Ensembl ].
VAR_063423
Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1324 – 13241L → R in MOTA. 1 Publication
Corresponds to variant rs281875281 [ dbSNP | Ensembl ].
VAR_066412
Natural varianti2091 – 20911V → I in MOTA. 1 Publication
Corresponds to variant rs281875282 [ dbSNP | Ensembl ].
VAR_066413
Trigonocephaly 2 (TRIGNO2) [MIM:614485]: A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti498 – 4981R → Q in TRIGNO2. 1 Publication
Corresponds to variant rs184394424 [ dbSNP | Ensembl ].
VAR_067916
Natural varianti1500 – 15001E → V in TRIGNO2. 1 Publication
Corresponds to variant rs281875280 [ dbSNP | Ensembl ].
VAR_067917

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

MIMi248450. phenotype.
608980. phenotype.
614485. phenotype.
Orphaneti217266. BNAR syndrome.
2140. Congenital diaphragmatic hernia.
3366. Isolated trigonocephaly.
2717. Oculotrichoanal syndrome.
93100. Unilateral renal agenesis.
PharmGKBiPA134892147.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence AnalysisAdd
BLAST
Chaini22 – 21792158FRAS1-related extracellular matrix protein 1PRO_0000010122Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi335 – 3351N-linked (GlcNAc...)Sequence Analysis
Glycosylationi560 – 5601N-linked (GlcNAc...)Sequence Analysis
Glycosylationi622 – 6221N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1014 – 10141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1566 – 15661N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi2151 ↔ 2165PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ5H8C1.
PaxDbiQ5H8C1.
PRIDEiQ5H8C1.

PTM databases

PhosphoSiteiQ5H8C1.

Expressioni

Gene expression databases

BgeeiQ5H8C1.
CleanExiHS_FREM1.
ExpressionAtlasiQ5H8C1. baseline and differential.
GenevestigatoriQ5H8C1.

Interactioni

Protein-protein interaction databases

BioGridi127670. 1 interaction.
STRINGi9606.ENSP00000413394.

Structurei

3D structure databases

ProteinModelPortaliQ5H8C1.
SMRiQ5H8C1. Positions 1742-1851, 2052-2177.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati275 – 394120CSPG 1Add
BLAST
Repeati395 – 502108CSPG 2Add
BLAST
Repeati503 – 621119CSPG 3Add
BLAST
Repeati622 – 758137CSPG 4Add
BLAST
Repeati759 – 869111CSPG 5Add
BLAST
Repeati870 – 1005136CSPG 6Add
BLAST
Repeati1006 – 1129124CSPG 7Add
BLAST
Repeati1130 – 1256127CSPG 8Add
BLAST
Repeati1257 – 1375119CSPG 9Add
BLAST
Repeati1376 – 1487112CSPG 10Add
BLAST
Repeati1488 – 1608121CSPG 11Add
BLAST
Repeati1609 – 1729121CSPG 12Add
BLAST
Domaini1731 – 1830100Calx-betaAdd
BLAST
Domaini2060 – 2174115C-type lectinPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi199 – 2013Cell attachment siteBy similarity
Motifi1907 – 19093Cell attachment siteSequence Analysis

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

eggNOGiNOG12793.
GeneTreeiENSGT00550000074429.
HOGENOMiHOG000231310.
HOVERGENiHBG080222.
InParanoidiQ5H8C1.
OrthoDBiEOG751NDJ.
PhylomeDBiQ5H8C1.
TreeFamiTF316876.

Family and domain databases

Gene3Di3.10.100.10. 1 hit.
InterProiIPR001304. C-type_lectin.
IPR016186. C-type_lectin-like.
IPR016187. C-type_lectin_fold.
IPR003644. Calx_beta.
[Graphical view]
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. Align

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 AAH31064.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence CAH71826.2 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1735 – 17351I → N in AAH31064. (PubMed:15489334)Curated
Sequence conflicti1861 – 18611S → A in CAE46048. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti439 – 4391V → L.1 Publication
Corresponds to variant rs2779500 [ dbSNP | Ensembl ].
VAR_047317
Natural varianti498 – 4981R → Q in TRIGNO2. 1 Publication
Corresponds to variant rs184394424 [ dbSNP | Ensembl ].
VAR_067916
Natural varianti499 – 4991I → V.
Corresponds to variant rs1353223 [ dbSNP | Ensembl ].
VAR_047318
Natural varianti649 – 6491R → W in BNAR. 1 Publication
Corresponds to variant rs121912609 [ dbSNP | Ensembl ].
VAR_063422
Natural varianti803 – 8031S → Y.
Corresponds to variant rs7023244 [ dbSNP | Ensembl ].
VAR_047319
Natural varianti863 – 8631L → V.1 Publication
Corresponds to variant rs7041710 [ dbSNP | Ensembl ].
VAR_047320
Natural varianti1202 – 12021S → R.
Corresponds to variant rs16932300 [ dbSNP | Ensembl ].
VAR_047321
Natural varianti1273 – 12731D → E.
Corresponds to variant rs7025814 [ dbSNP | Ensembl ].
VAR_047322
Natural varianti1324 – 13241L → R in MOTA. 1 Publication
Corresponds to variant rs281875281 [ dbSNP | Ensembl ].
VAR_066412
Natural varianti1440 – 14401G → S in BNAR. 1 Publication
Corresponds to variant rs121912610 [ dbSNP | Ensembl ].
VAR_063423
Natural varianti1500 – 15001E → V in TRIGNO2. 1 Publication
Corresponds to variant rs281875280 [ dbSNP | Ensembl ].
VAR_067917
Natural varianti1502 – 15021V → M.
Corresponds to variant rs10961700 [ dbSNP | Ensembl ].
VAR_047323
Natural varianti1576 – 15761N → I.
Corresponds to variant rs2101770 [ dbSNP | Ensembl ].
VAR_047324
Natural varianti2091 – 20911V → I in MOTA. 1 Publication
Corresponds to variant rs281875282 [ dbSNP | Ensembl ].
VAR_066413
Natural varianti2143 – 21431Q → P.2 Publications
Corresponds to variant rs10961689 [ dbSNP | Ensembl ].
VAR_047325
Natural varianti2174 – 21741V → G.1 Publication
Corresponds to variant rs17856912 [ dbSNP | Ensembl ].
VAR_047326

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 18031803Missing in isoform 3. 1 PublicationVSP_015025Add
BLAST
Alternative sequencei1 – 15871587Missing in isoform 4. 1 PublicationVSP_015026Add
BLAST
Alternative sequencei1 – 14641464Missing in isoform 2. 1 PublicationVSP_047283Add
BLAST
Alternative sequencei1465 – 148016VCYVH…SSDRF → MVTQESMLKAALPLFT in isoform 2. 1 PublicationVSP_047284Add
BLAST
Alternative sequencei1588 – 161932TDCFT…LFTIQ → MLDESLAVRRSKKCKEMIMH WEKKEDIDIVNT in isoform 4. 1 PublicationVSP_015029Add
BLAST
Alternative sequencei1804 – 18096MSTKMW → SSILCL in isoform 4. 1 PublicationVSP_015030
Alternative sequencei1810 – 2179370Missing in isoform 4. 1 PublicationVSP_015031Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005251382.2. [Q5H8C1-1]
XP_005251441.1. XM_005251384.2. [Q5H8C1-2]
XP_006716786.1. XM_006716723.1. [Q5H8C1-1]
XP_006716792.1. XM_006716729.1. [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.
UCSCiuc003zlm.3. human. [Q5H8C1-1]

Polymorphism databases

DMDMi215274141.

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:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS47952.1. [Q5H8C1-1 ]
CCDS55293.1. [Q5H8C1-2 ]
RefSeqi NP_001171175.1. NM_001177704.1. [Q5H8C1-2 ]
NP_659403.4. NM_144966.5. [Q5H8C1-1 ]
XP_005251439.1. XM_005251382.2. [Q5H8C1-1 ]
XP_005251441.1. XM_005251384.2. [Q5H8C1-2 ]
XP_006716786.1. XM_006716723.1. [Q5H8C1-1 ]
XP_006716792.1. XM_006716729.1. [Q5H8C1-2 ]
UniGenei Hs.50850.

3D structure databases

ProteinModelPortali Q5H8C1.
SMRi Q5H8C1. Positions 1742-1851, 2052-2177.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127670. 1 interaction.
STRINGi 9606.ENSP00000413394.

PTM databases

PhosphoSitei Q5H8C1.

Polymorphism databases

DMDMi 215274141.

Proteomic databases

MaxQBi Q5H8C1.
PaxDbi Q5H8C1.
PRIDEi Q5H8C1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000380880 ; ENSP00000370262 ; ENSG00000164946 . [Q5H8C1-1 ]
ENST00000380894 ; ENSP00000370278 ; ENSG00000164946 . [Q5H8C1-2 ]
ENST00000422223 ; ENSP00000412940 ; ENSG00000164946 . [Q5H8C1-1 ]
ENST00000427623 ; ENSP00000412597 ; ENSG00000164946 . [Q5H8C1-4 ]
GeneIDi 158326.
KEGGi hsa:158326.
UCSCi uc003zlm.3. human. [Q5H8C1-1 ]

Organism-specific databases

CTDi 158326.
GeneCardsi GC09M014730.
GeneReviewsi FREM1.
HGNCi HGNC:23399. FREM1.
MIMi 248450. phenotype.
608944. gene.
608980. phenotype.
614485. phenotype.
neXtProti NX_Q5H8C1.
Orphaneti 217266. BNAR syndrome.
2140. Congenital diaphragmatic hernia.
3366. Isolated trigonocephaly.
2717. Oculotrichoanal syndrome.
93100. Unilateral renal agenesis.
PharmGKBi PA134892147.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00550000074429.
HOGENOMi HOG000231310.
HOVERGENi HBG080222.
InParanoidi Q5H8C1.
OrthoDBi EOG751NDJ.
PhylomeDBi Q5H8C1.
TreeFami TF316876.

Miscellaneous databases

GeneWikii FREM1.
GenomeRNAii 158326.
NextBioi 87697.
PROi Q5H8C1.
SOURCEi Search...

Gene expression databases

Bgeei Q5H8C1.
CleanExi HS_FREM1.
ExpressionAtlasi Q5H8C1. baseline and differential.
Genevestigatori Q5H8C1.

Family and domain databases

Gene3Di 3.10.100.10. 1 hit.
InterProi IPR001304. C-type_lectin.
IPR016186. C-type_lectin-like.
IPR016187. C-type_lectin_fold.
IPR003644. Calx_beta.
[Graphical view ]
Pfami PF03160. Calx-beta. 1 hit.
PF00059. Lectin_C. 1 hit.
[Graphical view ]
SMARTi SM00034. CLECT. 1 hit.
[Graphical view ]
SUPFAMi SSF56436. SSF56436. 1 hit.
PROSITEi PS50041. C_TYPE_LECTIN_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle."
    Kiyozumi D., Osada A., Sugimoto N., Weber C.N., Ono Y., Imai T., Okada A., Sekiguchi K.
    Exp. Cell Res. 306:9-23(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS LEU-439; VAL-863 AND PRO-2143.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Testis.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Fetal kidney.
  4. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS PRO-2143 AND GLY-2174.
    Tissue: Testis.
  6. "FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome."
    Alazami A.M., Shaheen R., Alzahrani F., Snape K., Saggar A., Brinkmann B., Bavi P., Al-Gazali L.I., Alkuraya F.S.
    Am. J. Hum. Genet. 85:414-418(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BNAR TRP-649 AND SER-1440.
  7. Cited for: VARIANTS MOTA ARG-1324 AND ILE-2091.
  8. Cited for: VARIANTS TRIGNO2 GLN-498 AND VAL-1500.

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: October 29, 2014
This is version 105 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

External Data

Dasty 3