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Q5H8C1

- FREM1_HUMAN

UniProt

Q5H8C1 - FREM1_HUMAN

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Protein
FRAS1-related extracellular matrix protein 1
Gene
FREM1, C9orf143, C9orf145, C9orf154
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: InterPro
  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-SubCell
  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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
PharmGKBiPA134892147.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi335 – 3351N-linked (GlcNAc...) Reviewed prediction
Glycosylationi560 – 5601N-linked (GlcNAc...) Reviewed prediction
Glycosylationi622 – 6221N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1014 – 10141N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1566 – 15661N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi2151 ↔ 2165 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ5H8C1.
PaxDbiQ5H8C1.
PRIDEiQ5H8C1.

PTM databases

PhosphoSiteiQ5H8C1.

Expressioni

Gene expression databases

ArrayExpressiQ5H8C1.
BgeeiQ5H8C1.
CleanExiHS_FREM1.
GenevestigatoriQ5H8C1.

Interactioni

Protein-protein interaction databases

BioGridi127670. 1 interaction.
STRINGi9606.ENSP00000413394.

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

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

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi199 – 2013Cell attachment site By similarity
Motifi1907 – 19093Cell attachment site Reviewed prediction

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.
Contains 1 Calx-beta domain.
Contains 12 CSPG (NG2) repeats.

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiNOG12793.
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

MNSLSWGAAN AVLLLLLLAW ASPTFISINR GVRVMKGHSA FLSGDDLKFA     50
IPKEKDACKV EVVMNEPITQ RVGKLTPQVF DCHFLPNEVK YVHNGCPILD 100
EDTVKLRLYR FTERDTFIET FILWVYLLEP DCNIIHMSNN VLEVPEFNGL 150
SQAIDKNLLR FDYDRMASLE CTVSLDTART RLPAHGQMVL GEPRPEEPRG 200
DQPHSFFPES QLRAKLKCPG GSCTPGLKKI GSLKVSCEEF LLMGLRYQHL 250
DPPSPNIDYI SIQLDLTDTR SKIVYKSESA WLPVYIRAGI PNQIPKAAFM 300
AVFILEVDQF ILTSLTTSVL DCEEDETPKP LLVFNITKAP LQGYVTHLLD 350
HTRPISSFTW KDLSDMQIAY QPPNSSHSER RHDEVELEVY DFFFERSAPM 400
TVHISIRTAD TNAPRVSWNT GLSLLEGQSR AITWEQFQVV DNDDIGAVRL 450
VTVGGLQHGW LTLRGGKGFL FTVADLQAGV VRYHHDDSDS TKDFVVFRIF 500
DGHHSIRHKF PINVLPKDDS PPFLITNVVI ELEEGQTILI QGSMLRASDV 550
DASDDYIFFN ITKPPQAGEI MKKPGPGLIG YPVHGFLQRD LFNGIIYYRH 600
FGGEIFEDSF QFVLWDSHEP PNLSVPQVAT IHITPVDDQL PKEAPGVSRH 650
LVVKETEVAY ITKKQLHFID SESYDRELVY TITTPPFFSF SHRHLDAGKL 700
FMVDSIPKVV KNPTALELRS FTQHAVNYMK VAYMPPMQDI GPHCRDVQFT 750
FSVSNQHGGT LHGICFNITI LPVDNQVPEA FTNPLKVTEG GQSIISTEHI 800
LISDADTKLD NIDLSLRELP LHGRVELNGF PLNSGGTFSW GDLHTLKVRY 850
QHDGTEVLQD DLLLEVTDGT NSAEFVLHVE VFPVNDEPPV LKADLMPVMN 900
CSEGGEVVIT SEYIFATDVD SDNLKLMFVI AREPQHGVVR RAGVTVDQFS 950
QRDVISEAVT YKHTGGEIGL MPCFDTITLV VSDGEAGPFV NGCCYNGPNP 1000
SVPLHASFPV YDLNITVYPV DNQPPSIAIG PVFVVDEGCS TALTVNHLSA 1050
TDPDTAADDL EFVLVSPPQF GYLENILPSV GFEKSNIGIS IDSFQWKDMN 1100
AFHINYVQSR HLRIEPTADQ FTVYVTDGKH HSLEIPFSII INPTNDEAPD 1150
FVVQNITVCE GQMKELDSSI ISAVDLDIPQ DALLFSITQK PRHGLLIDRG 1200
FSKDFSENKQ PANPHQKHAP VHSFSMELLK TGMRLTYMHD DSESLADDFT 1250
IQLSDGKHKI LKTISVEVIP VNDEKPMLSK KAEIAMNMGE TRIISSAILS 1300
AIDEDSPREK IYYVFERLPQ NGQLQLKIGR DWVPLSPGMK CTQEEVDLNL 1350
LRYTHTGAMD SQNQDSFTFY LWDGNNRSPA LDCQITIKDM EKGDIVILTK 1400
PLVVSKGDRG FLTTTTLLAV DGTDKPEELL YVITSPPRYG QIEYVHYPGV 1450
PITNFSQMDV VGQTVCYVHK SKVTVSSDRF RFIISNGLRT EHGVFEITLE 1500
TVDRALPVVT RNKGLRLAQG AVGLLSPDLL QLTDPDTPAE NLTFLLVQLP 1550
QHGQLYLWGT GLLQHNFTQQ DVDSKNVAYR HSGGDSQTDC FTFMATDGTN 1600
QGFIVNGRVW EEPVLFTIQV DQLDKTAPRI TLLHSPSQVG LLKNGCYGIY 1650
ITSRVLKASD PDTEDDQIIF KILQGPKHGH LENTTTGEFI HEKFSQKDLN 1700
SKTILYIINP SLEVNSDTVE FQIMDPTGNS ATPQILELKW SHIEWSQTEY 1750
EVCENVGLLP LEIIRRGYSM DSAFVGIKVN QVSAAVGKDF TVIPSKLIQF 1800
DPGMSTKMWN IAITYDGLEE DDEVFEVILN SPVNAVLGTK TKAAVKILDS 1850
KGGQCHPSYS SNQSKHSTWE KGIWHLLPPG SSSSTTSGSF HLERRPLPSS 1900
MQLAVIRGDT LRGFDSTDLS QRKLRTRGNG KTVRPSSVYR NGTDIIYNYH 1950
GIVSLKLEDD SFPTHKRKAK VSIISQPQKT IKVAELPQAD KVESTTDSHF 2000
PRQDQLPSFP KNCTLELKGL FHFEEGIQKL YQCNGIAWKA WSPQTKDVED 2050
KSCPAGWHQH SGYCHILITE QKGTWNAAAQ ACREQYLGNL VTVFSRQHMR 2100
WLWDIGGRKS FWIGLNDQVH AGHWEWIGGE PVAFTNGRRG PSQRSKLGKS 2150
CVLVQRQGKW QTKDCRRAKP HNYVCSRKL 2179
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.

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.
VSP_015025Add
BLAST
Alternative sequencei1 – 15871587Missing in isoform 4.
VSP_015026Add
BLAST
Alternative sequencei1 – 14641464Missing in isoform 2.
VSP_047283Add
BLAST
Alternative sequencei1465 – 148016VCYVH…SSDRF → MVTQESMLKAALPLFT in isoform 2.
VSP_047284Add
BLAST
Alternative sequencei1588 – 161932TDCFT…LFTIQ → MLDESLAVRRSKKCKEMIMH WEKKEDIDIVNT in isoform 4.
VSP_015029Add
BLAST
Alternative sequencei1804 – 18096MSTKMW → SSILCL in isoform 4.
VSP_015030
Alternative sequencei1810 – 2179370Missing in isoform 4.
VSP_015031Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1735 – 17351I → N in AAH31064. 1 Publication
Sequence conflicti1861 – 18611S → A in CAE46048. 1 Publication

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.
PharmGKBi PA134892147.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
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

ArrayExpressi Q5H8C1.
Bgeei Q5H8C1.
CleanExi HS_FREM1.
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: July 9, 2014
This is version 103 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

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