Gene: FRAS1

Basic information

Tag Content
Uniprot ID Q86XX4; A2RRR8; Q86UZ4; Q8N3U9; Q8NAU7; Q96JW7; Q9H6N9; Q9P228;
Entrez ID 80144
Genbank protein ID AAH52281.1; BAB55399.1; BAB15216.1; CAD54734.1; BAA96024.2; CAD38554.1; AAI31821.1; AAH64487.1;
Genbank nucleotide ID NM_001166133.1; NM_025074.6;
Ensembl protein ID ENSP00000326330; ENSP00000422834;
Ensembl nucleotide ID ENSG00000138759
Gene name Extracellular matrix protein FRAS1
Gene symbol FRAS1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR CHGDIVICKP 60
AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK IHEHGTEWAS SPCSVCSCNH 120
GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC 180
LCRNGVAQCF TAQCQPLFCN QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT 240
TCICDRGEVR CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG 300
SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV YEETGEFMSS 360
NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP VGTLALEVKG QCCPDCTSVH 420
CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE 480
CSSCQPPLLM RHGQCVPTCG DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD 540
GGCESSCGKG FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD 600
ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG VCKACHSSCL 660
ACMGPAPSHC TGCKKPEEGL QVEQLSDVGI PSGECLAQCR AHFYLESTGI CEACHQSCFR 720
CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG YFHQEGSCTE CHPTCRQCHG PLESDCISCY 780
PHISLTNGNC RTSCREEQFL NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD 840
HCVPDCPSGY YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL 900
DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF STNTCKECDW 960
SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG LCKNCDSYCL QCQGPHECTR 1020
CKGPFLLLEA QCVQECGKGY FADHAKHKCT ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV 1080
YNCVPGFSVH TSNETCSGKI HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF 1140
HVVSTPTNGQ LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ 1200
FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ DVVIEIIDPP 1260
LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS DVAVLQANDG HSFHNILFQV 1320
KTVPQNDRGL QLVANSMVWV PEGGMLQITN RILQAEAPGA SAEEIIYKIT QDYPQFGEVV 1380
LLVNMPADSP ADEGQHLPDG RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA 1440
SNAQTRLESH MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK 1500
IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL QELMAFSFAG 1560
LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT APRLAVSPGG STSVGLQVVV 1620
RDAETAPKEL FFELRRPPQH GVLLKHTAEF RRPMATGDTF TYEDVEKNAL QYIHDGSSTR 1680
EDSMEISVTD GLTVTMLEVR VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD 1740
DSSPDPEIWI QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL 1800
VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA PLSFHHFFAT 1860
DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL EASFPIQDVL ENYIYYFQSV 1920
HESIEPTHDI FSFYVSDGTS RSEIHSINIT IERKNDEPPR MTLQPLRVQL SSGVVISNSS 1980
LSLQDLDTPD NELIFVLTKK PDHGHVLWRQ TASEPLENGR VLVQGSTFTY QDILAGLVGY 2040
VPSVPGMVVD EFQFSLTDGL HVDTGRMKIY TELPASDTPH LAINQGLQLS AGSVARITEQ 2100
HLKVTDIDSD DHQVMYIMKE DPGAGRLQMM KHGNLEQISI KGPIRSFTQA DISQGQPEYS 2160
HGTGEPGGSF AFKFDVVDGE GNRLIDKSFS ISISEDKSPP VITTNKGLVL DENSVKKITT 2220
LQLSATDQDS GPTELIYRIT RQPQLGHLEH AASPGIQISS FTQADLTSRN VQYVHSSEAE 2280
KHSDAFSFTL SDGVSEVTQT FHITLHPVDD SLPVVQNLGM RVQEGMRKTI TEFELKAVDA 2340
DTEAESVTFT IVQPPRHGTI ERTSNGQHFH LTSTFTMKDI YQNRVSYSHD GSNSLKDRFT 2400
FTVSDGTNPF FIIEEGGKEI MTAAPQPFRV DILPVDDGTP RIVTNLGLQW LEYMDGKATN 2460
LITKKELLTM DPDTEDAQLV YEITTGPKHG FVENKLQPGR AAATFTQEDV NLGLIRYVLH 2520
KEKIREMMDS FQFLVKDSKP NVVSDNVFHI QWSLISFKYT SYNVSEKAGS VSVTVQRTGN 2580
LNQYAIVLCR TEQGTASSSS QPGQQDYVEY AGQVQFDERE DTKSCTIVIN DDDVFENVES 2640
FTVELSMPAY ALLGEFTQAK VIINDTEDEP TLEFDKKIYW VNESAGFLFA PIERKGDASS 2700
IVSAICYTVP KSAMGSLFYA LESGSDFKSR GMSAASRVIF GPGVTMSTCD VMLIDDSEYE 2760
EEEEFEIALA DASDNARIGR VATAKVLISG PNDASTVSLG NTAFTVSEDA GTVKIPVIRH 2820
GTDLSTFASV WCATRPSDPA SATPGVDYVP SSRKVEFGPG VIEQYCTLTI LDDTQYPVIE 2880
GLETFVVFLS SAQGAELTKP FQAVIAINDT FQDVPSMQFA KDLLLVKEKE GVLHVPITRS 2940
GDLSYESSVR CYTQSHSAQV MEDFEERQNA DSSRITFLKG DKVKNCTVYI HDDSMFEPEE 3000
QFRVYLGLPL GNHWSGARIG KNNMATITIS NDEDAPTIEF EEAAYQVREP AGPDAIAILN 3060
IKVIRRGDQN RTSKVRCSTR DGSAQSGVDY YPKSRVLKFS PGVDHIFFKV EILSNEDREW 3120
HESFSLVLGP DDPVEAVLGD VTTATVTILD QEAAGSLILP APPIVVTLAD YDHVEEVTKE 3180
GVKKSPSPGY PLVCVTPCDP HFPRYAVMKE RCSEAGINQT SVQFSWEVAA PTDGNGARSP 3240
FETITDNTPF TSVNHMVLDS IYFSRRFHVR CVAKAVDKVG HVGTPLRSNI VTIGTDSAIC 3300
HTPVVAGTSR GFQAQSFIAT LKYLDVKHKE HPNRIHISVQ IPHQDGMLPL ISTMPLHNLH 3360
FLLSESIYRH QHVCSNLVTT YDLRGLAEAG FLDDVVYDST ALGPGYDRPF QFDPSVREPK 3420
TIQLYKHLNL KSCVWTFDAY YDMTELIDVC GGSVTADFQV RDSAQSFLTV HVPLYVSYIY 3480
VTAPRGWASL EHHTEMEFSF FYDTVLWRTG IQTDSVLSAR LQIIRIYIRE DGRLVIEFKT 3540
HAKFRGQFVM EHHTLPEVKS FVLTPDHLGG IEFDLQLLWS AQTFDSPHQL WRATSSYNRK 3600
DYSGEYTIYL IPCTVQPTQP WVDPGEKPLA CTAHAPERFL IPIAFQQTNR PVPVVYSLNT 3660
EFQLCNNEKV FLMDPNTSDM SLAEMDYKGA FSKGQILYGR VLWNPEQNLN SAYKLQLEKV 3720
YLCTGKDGYV PFFDPTGTIY NEGPQYGCIQ PNKHLKHRFL LLDRNQPEVT DKYFHDVPFE 3780
AHFASELPDF HVVSNMPGVD GFTLKVDALY KVEAGHQWYL QVIYIIGPDT ISGPRVQRSL 3840
TAPLRRNRRD LVEPDGQLIL DDSLIYDNEG DQVKNGTNMK SLNLEMQELA VAASLSQTGA 3900
SIGSALAAIM LLLLVFLVAC FINRKCQKQR KKKPAEDILE EYPLNTKVEV PKRHPDRVEK 3960
NVNRHYCTVR NVNILSEPEA AYTFKGAKVK RLNLEVRVHN NLQDGTEV 4008

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologFRAS1478446J9P6T8Canis lupus familiarisPredictionMore>>
1:1 orthologFRAS1A0A452G0M2Capra hircusPredictionMore>>
1:1 orthologFRAS180144Q86XX4Homo sapiensPredictionMore>>
1:1 orthologFras1231470Q80T14CPOMus musculusPublicationMore>>
1:1 orthologFRAS1461226H2R4C8Pan troglodytesPredictionMore>>
1:1 orthologFras1F1M3H3Rattus norvegicusPredictionMore>>
1:1 orthologfras1563428F1Q633Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005201 extracellular matrix structural constituentISS
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0002009 morphogenesis of an epitheliumIEA
GO:0003338 metanephros morphogenesisIEA
GO:0007154 cell communicationIEA
GO:0015031 protein transportIEA
GO:0030326 embryonic limb morphogenesisIEA
GO:0043588 skin developmentIEA
GO:0060021 roof of mouth developmentIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005604 basement membraneISS
GO:0005886 plasma membraneIEA
GO:0016021 integral component of membraneIEA
GO:0062023 collagen-containing extracellular matrixISS

Reactome Pathway

Reactome ID Reactome Term Evidence

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0106 Calcium
KW-1003 Cell membrane
KW-0325 Glycoprotein
KW-0472 Membrane
KW-0479 Metal-binding
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0677 Repeat
KW-0732 Signal
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR038081 CalX-like_sf
IPR003644 Calx_beta
IPR039005 CSPG_rpt
IPR000742 EGF-like_dom
IPR006212 Furin_repeat
IPR009030 Growth_fac_rcpt_cys_sf
IPR001007 VWF_dom

PROSITE

PROSITE ID PROSITE Term
PS51854 CSPG
PS01208 VWFC_1
PS50184 VWFC_2

Pfam

Pfam ID Pfam Term
PF03160 Calx-beta
PF00093 VWC

Protein-protein interaction

Protein-miRNA interaction