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Q5H8C1

- FREM1_HUMAN

UniProt

Q5H8C1 - FREM1_HUMAN

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
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 3 (25 Nov 2008)
      Previous versions | rss
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    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

    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

    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.
    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

    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.
    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.
    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.

    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.
    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

    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 1, 2014
    This is version 104 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