CleftGeneDB-Search

Gene: Fras1

Basic information

Tag	Content
Uniprot ID	Q80T14; E9QPG9; Q80TC7; Q811H8; Q8BPZ4;
Entrez ID	231470
Genbank protein ID	CAD33519.1; BAC65800.1; BAC34788.1; AAH44881.1;
Genbank nucleotide ID	NM_175473.3
Ensembl protein ID	ENSMUSP00000043250
Ensembl nucleotide ID	ENSMUSG00000034687
Gene name	Extracellular matrix protein FRAS1
Gene symbol	Fras1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	24143185
Functional description
Sequence	MGVLKAWLGV ALALAEFAVL PNCEGACLYQ GSFLADATIW KPDSCQNCRC HGDIVICKPV 60 VCKNPRCAFE KGEVLWIAPN QCCPQCAPRT PGSCHHEGKI HEHGTEWASA PCTVCSCTHG 120 EVRCSHQQCT PLSCGPQELE FLAEGRCCPI CVGTGKPCSY DGHVFQDGED WQLSRCAKCV 180 CRNGLTQCFA AQCQPLFCNQ DEIVVRVPGK CCSQCSARSC STAGQVYEHG EQWKEDACTL 240 CMCDQGQVRC HKQVCPPLRC AKGQGRARHH GQCCEECATP DRSCSSGGVL RYQDEMWKGS 300 ACEFCMCDQG QVTCQTGECA KVACALGEEL VHLEGKCCPE CISRNGYCIY EQKAETMSSS 360 AREIKHVPDG EKWEEGPCKL CECREAQVTC YEPSCPPCPV ATLALVVKGQ CCPDCTPVHC 420 HPDCLTCSHS PDHCDLCQDP TKLLQNGRCV HSCGLGFYQA GSLCLACQPQ CSTCTNGLEC 480 SSCLPPLLMQ QGQCVSTCGD GFYQDHHSCA VCHESCAGCW GPTEKHCMAC RDPLQVLRDS 540 SCENTCGNGF YNRQGTCVAC DQSCKSCGPS SPRCLSCAEK TILHDGKCIS ECPHGYYADS 600 TGSCKVCHSS CASCSGPTAA HCIACIHPQT LRQGHCLPSC GEGFYPDHGI CEACHASCHT 660 CVGPQPSHCT QCKKPEAGLL VEQHSGENVP YGKCVSRCGT HFYLESTGLC EVCHPSCLTC 720 EGKSPHNCTG CESTHALLAG CCVSQCPETH FNLEGTCTEC HPSCRQCHGP LESDCVSCHP 780 HLTLTSGHCK TSCKEEQFLN LVGYCADCHP LCQHCVANLQ DTGSICLKCQ HARHLLLGDH 840 CVPECPPGHY KERGTCKTCH SSCRSCQNGG PFSCSSCDTG LVLTHIGTCS TACFPGHYLD 900 DNQVCQPCNR HCRSCDSQGS CTSCRDPSKV LLFGECQYES CTPQYYLDIA TKTCKECDWS 960 CNACTGPLRT DCLQCMDGYV LQDGVCVEQC SPQHYRDSGS CKRCDSHCVE CQGPHECTRC 1020 EEPFLLFQAQ CVQECGKGYF ADHAKHRCIA CPQGCLRCSH KDRCHLCDHS FFLKSGLCMP 1080 TCVPGFSGHS SNENCTDKMY TPSLHVNGSL TLGIGSMKPL DFSLLNIQHQ DGRVEDLLFH 1140 VVSTPTNGQL LLSRNGKEVQ LEKAGHFSWK DVNEKKVRFV HSKEKLRKGY FSLKISDQQF 1200 FSEPQLINIQ AFSTQAPYVL RNEVLHVSKG ERATITTQLL DIRDDDNPQD VVVNVLDPPL 1260 HGQLLQMPPA PAASIYQFHL DELSRGLLLY AHDGSDSTSD IIVFQANDGH SFQNILFHVK 1320 NIPKNDRALR LVTNSMVWVP EGGMLKITNR ILKAQAPGVR ADDIIYKITH SRPQFGEVVL 1380 LMNLPADSPA GPAEEGHHLP DGRMATPIST FTQQDIDDGV VWYRHLGAPT QSDSFRFQVS 1440 SATSAQEHLE SHMFNIAILP QAPEAPKLSL GTSLHMTARE DGLSVIQPQS LSFVKAESPS 1500 GKIIYNITVP LHPNQGIIEH RDRPHSPIQY FTQEDINQGQ IMYRPPVAPP HLQEIMAFSF 1560 AGLPESVKFY FTVSDGQHTS PEMALTIHLL HSDLQPPAFQ VKAPLLEVSP GGRTSLGLQL 1620 LVRDAQVVPE ELFFQLQKSP QHGMLVKYTA KSSVTMAAGD TFTYDEVERN VLQYVHDGSS 1680 AWEDSLEISV TDGLTVTTSE VKVEVSPSEN RGPRLAPGSS LSMTVASQHT AIITRSHLAY 1740 VDDSSSDPEI WIRLSSLPLY GVLFRSSGPD MDELSGDSNF TMEDINKKNI RYSAVFETDG 1800 HSVTDGFHFS VSDMDGNHVD NQVFTITVTP AENPPHIIAF ADLITVDEGG RAPLSLHHFF 1860 ATEDQDNLQD DAVIKLSALP KYGCIENTGT GDRFGPGANS ELEASFPIQD VLENYIYYFQ 1920 SVHESIEPTH DVFSFYVSDG SGRSEIHSIN ITIERKNDEP PRMTLRPLGV RLSSGVAISN 1980 SSLSLQDLDT PDNELIFVLM KKPDHGHLLR RSTASDPLEN GTVLDQGSSF TYQDVLAGLV 2040 GYLPGDIYMA VDEFRFSLTD GLHVDTGRME IYIELPSTNI PHLAINRGLQ LSAGSVARIT 2100 EQHLKATDTD SEAGQVVYIM KEDPGAGRLL MAKADNLEQI SVRGPIRSFT QADVSQGQIE 2160 YSHGPGEPGG SFAFKFDVVD GEGNKLADQS FSIGVLEDKS PPVVITNRGL VLDENSVEKI 2220 TTAQLSATDQ DSKPTELIYR ITTQPQLGHL EHVASPGIQI SSFTQADLAS RNVQYVRSSG 2280 TGKQSDAFSF VLSDGLHEVT QTFPITIHPV DDARPLVQNR GMRVQEGVRK TITEFELKAV 2340 DVDTEAESIT FTIVQPPRHG TIERTARGQR FHQTSSFTME DIYQNRVSYS HDGSNSLKDR 2400 FTFTVSDGTN PFFIIEEGGE EIMTAAPQQF HVDILPVDDG TPRIVTNLGL QWLEYMDGKA 2460 TNLITKKELL TVDPDTEDSQ LIYEVTTGPM HGYLENKLQP GRAAATFTQE HVNLGLIRYV 2520 LYEEKIQKVM DSFQFLVKDS KPNVVSDNVF HIQWSLISFK YTSYNVSEKA GSVSVTVQRT 2580 GNLNQYAIVL CRTEQGTASS SSHPGQQDYM EYAGQVQFDE GEGTKSCTVI INDDDVFENI 2640 ESFTVGLSMP AYALLGEFTQ AKVVINDTED EPTLEFDKKT YRVNESAGFL FAPIKRQGDS 2700 SSTVSAVCYT VPKSAMGSSL YALESGSDFK SRGRSAESRV IFGPGVTVST CDVMVIDDSE 2760 YEEEEEFEIA LADASNNARI GRQAVAKVLI SGPNDASTVS LGNTAFTISE DAGTVKIPVI 2820 RHGTDLSTFT SVWCATRPSD PASATPGVDY VPSSRKVEFG PGITEQYCTL TILDDTQYPV 2880 IEGLETFVVF LSSAQGAELT KPSQAVIAIN DTFQDVPSMQ FSKDLLLVKE KEGVLHIPII 2940 RSGDLSYESS VRCYTQGHSA QVMEDFEERR NADSSRITFL KGQKTKNCTV YIHDDSMFEP 3000 EEQFRVYLGH PLGNHWSGAR IGKNSVATVT ISNDEDAPTI EFEEAAYQVR EPAGPEAIAV 3060 LSIKVIRRGD QNRTSKIRCS TRDGSAQSGV DYYPKSRVLK FSPGVDHIFF KVEILSNEDR 3120 EWHESFSLVL GPDDLVEAVL GDVTTATVTI LDQEAAGSLI LPAPPIVVTL ADYDHVEELA 3180 KEGVKKAPSP GYPLVCVTPC DPRYPRYAVM KERCSEAGIN QTSVQFSWEV AAPTDGNGAR 3240 SPFETITDNT PFTSVNHKVL DSIYFSRRFH VRCVAKAVDK VGHVGTPLRS NVVTIGTDSA 3300 ICHTPVVAGT ARGFQAQSFI ATLKYLDVKH KEHPNRIHIS VQIPHQDGML PLISTMPLHN 3360 LHFLLSESIY RHQHVCSNLV TAQDLRGLAE AGFLNDAGFH STALGPGYDR PFQFDSSVRE 3420 PKTIQLYRHL NLKSCVWTFD AYYDMTELID VCGGSVTADF QVRDSAQSFL TVHVPLYVSY 3480 IYVTAPRGWA SLEHHTEMEF SFFYDTVLWR TGIQTDSVLS ARLQIIRIYI REDGRLVIEF 3540 KTHAKFRGQF VIEHHTLPDV KSFILTPDHL GGIQFDLQLL WSAQTFDSPH QLWRATSSYN 3600 RKDYSGEYTI YLIPCTVQPT QPWVDPGEKA LACTAHAPER FLIPIAFQQT NRPVPVVYSL 3660 NTEFQLCNNE KVFLMDPNTS DMSLAEMDYK GAFSKGQILY GRVLWNPEQN LHSAYKLQLE 3720 KVYLCTGKDG YVPFFDPTGT IYNEGPQYGC IQPNKHLKHR FLLLDRSQPE VTDKYFHDVP 3780 FEAHFASELP DFQVVSSMPG VDGFTLKVDA LYKVEAGHQW YLQVIYIIGP DSTSRPRVQR 3840 SLTVSLRRHQ RDLVDPSGWL SLDDSLIYDN EGDQVKNGTN MKSLNLEMQE PVIAASLSQT 3900 GASIGSALAA IMLLLLLFLV ACFVTRKCQK QKKKQPPEDT LEEYPLNTKV DVAKRNADKV 3960 EKNANRQYCT VRNVNILSDN EGYYTFKGAK VKKLNLEVRV HNNLQDGTEV

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.

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	Species	Evidence	Details
1:1 ortholog	FRAS1	478446	J9P6T8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	FRAS1		A0A452G0M2		Capra hircus	Prediction	More>>
1:1 ortholog	FRAS1	80144	Q86XX4		Homo sapiens	Prediction	More>>
1:1 ortholog	Fras1	231470	Q80T14	CPO	Mus musculus	Publication	More>>
1:1 ortholog	FRAS1	461226	H2R4C8		Pan troglodytes	Prediction	More>>
1:1 ortholog	Fras1		F1M3H3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	fras1	563428	F1Q633		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs33149911	p.Asn22His	missense variant	-	NC_000071.6:g.96374876A>C	UniProt
rs221539708	p.Val254Ala	missense variant	-	NC_000071.6:g.96554861T>C	UniProt
rs255008216	p.Ala278Val	missense variant	-	NC_000071.6:g.96555212C>T	UniProt
rs232510408	p.His332Tyr	missense variant	-	NC_000071.6:g.96559897C>T	UniProt
rs1133728671	p.Asn345Ile	missense variant	-	NC_000071.6:g.96559937A>T	UniProt
rs250086015	p.Ile349Val	missense variant	-	NC_000071.6:g.96559948A>G	UniProt
rs225138166	p.Ser570Gly	missense variant	-	NC_000071.6:g.96596815A>G	UniProt
rs31848775	p.Ser576Thr	missense variant	-	NC_000071.6:g.96596834G>C	UniProt
rs215503916	p.Ile582Met	missense variant	-	NC_000071.6:g.96596853C>G	UniProt
rs218163972	p.Pro628Ser	missense variant	-	NC_000071.6:g.96598954C>T	UniProt
rs244635380	p.Thr630Ile	missense variant	-	NC_000071.6:g.96598961C>T	UniProt
rs232109080	p.Arg632Ser	missense variant	-	NC_000071.6:g.96598966C>A	UniProt
rs261133305	p.Gly643Asp	missense variant	-	NC_000071.6:g.96599000G>A	UniProt
rs31852374	p.Arg697Gln	missense variant	-	NC_000071.6:g.96600757G>A	UniProt
rs581260844	p.Thr700Ile	missense variant	-	NC_000071.6:g.96600766C>T	UniProt
rs46227572	p.Val712Ala	missense variant	-	NC_000071.6:g.96614775T>C	UniProt
rs233285338	p.Pro725Ser	missense variant	-	NC_000071.6:g.96614813C>T	UniProt
rs240383843	p.Glu732Gly	missense variant	-	NC_000071.6:g.96614835A>G	UniProt
rs245381876	p.Ala739Thr	missense variant	-	NC_000071.6:g.96614855G>A	UniProt
rs583899486	p.Cys741Tyr	missense variant	-	NC_000071.6:g.96614862G>A	UniProt
rs216285655	p.Cys741Arg	missense variant	-	NC_000071.6:g.96614861T>C	UniProt
rs50365642	p.Val743Ile	missense variant	-	NC_000071.6:g.96614867G>A	UniProt
rs49276547	p.Gln745Arg	missense variant	-	NC_000071.6:g.96614874A>G	UniProt
rs249905177	p.Thr785Ala	missense variant	-	NC_000071.6:g.96618436A>G	UniProt
rs256556293	p.His788Arg	missense variant	-	NC_000071.6:g.96618446A>G	UniProt
rs224130683	p.Glu795Asp	missense variant	-	NC_000071.6:g.96618468A>T	UniProt
rs31847023	p.His814Gln	missense variant	-	NC_000071.6:g.96636080C>A	UniProt
rs31848370	p.Thr858Arg	missense variant	-	NC_000071.6:g.96636732C>G	UniProt
rs31850595	p.Ala963Thr	missense variant	-	NC_000071.6:g.96645098G>A	UniProt
rs31850596	p.Gln974Glu	missense variant	-	NC_000071.6:g.96645131C>G	UniProt
rs31850603	p.Arg1019His	missense variant	-	NC_000071.6:g.96645876G>A	UniProt
rs31853356	p.Gln1053Arg	missense variant	-	NC_000071.6:g.96647507A>G	UniProt
rs31853357	p.His1060Tyr	missense variant	-	NC_000071.6:g.96647527C>T	UniProt
rs212123290	p.Arg1063Trp	missense variant	-	NC_000071.6:g.96647536C>T	UniProt
rs29823914	p.Arg1063Gln	missense variant	-	NC_000071.6:g.96647537G>A	UniProt
rs31847225	p.Asp1131Gly	missense variant	-	NC_000071.6:g.96650523A>G	UniProt
rs245199613	p.Val1252Ile	missense variant	-	NC_000071.6:g.96657254G>A	UniProt
rs216061243	p.Asp1296Gly	missense variant	-	NC_000071.6:g.96657387A>G	UniProt
rs257061708	p.Thr1333Ala	missense variant	-	NC_000071.6:g.96667422A>G	UniProt
rs263973398	p.Glu1377Ala	missense variant	-	NC_000071.6:g.96673515A>C	UniProt
rs31849810	p.Ala1445Thr	missense variant	-	NC_000071.6:g.96677285G>A	UniProt
rs232910449	p.Ala1462Val	missense variant	-	NC_000071.6:g.96677337C>T	UniProt
rs31853583	p.Ser1484Thr	missense variant	-	NC_000071.6:g.96682303G>C	UniProt
rs253402395	p.Val1547Met	missense variant	-	NC_000071.6:g.96684448G>A	UniProt
rs234826076	p.Val1646Met	missense variant	-	NC_000071.6:g.96692623G>A	UniProt
rs31859119	p.Leu1757Pro	missense variant	-	NC_000071.6:g.96700202T>C	UniProt
rs241652533	p.Leu1759Arg	missense variant	-	NC_000071.6:g.96700208T>G	UniProt
rs31859120	p.Arg1765Lys	missense variant	-	NC_000071.6:g.96700226G>A	UniProt
rs222818073	p.Asp1770Glu	missense variant	-	NC_000071.6:g.96700242C>A	UniProt
rs240346761	p.Asp1772Asn	missense variant	-	NC_000071.6:g.96700246G>A	UniProt
rs31859123	p.Lys1788Asn	missense variant	-	NC_000071.6:g.96700296G>C	UniProt
rs250753037	p.Ser2171Asn	missense variant	-	NC_000071.6:g.96714020G>A	UniProt
rs218137530	p.Ser2200Phe	missense variant	-	NC_000071.6:g.96714362C>T	UniProt
rs47366912	p.Val2204Ile	missense variant	-	NC_000071.6:g.96714373G>A	UniProt
rs29507350	p.Arg2208Lys	missense variant	-	NC_000071.6:g.96714386G>A	UniProt
rs47022234	p.Ser2216Leu	missense variant	-	NC_000071.6:g.96714410C>T	UniProt
rs220563012	p.Ser2278Phe	missense variant	-	NC_000071.6:g.96726550C>T	UniProt
rs51449566	p.Val2310Leu	missense variant	-	NC_000071.6:g.96726907G>T	UniProt
rs50615252	p.Arg2314Gln	missense variant	-	NC_000071.6:g.96726920G>A	UniProt
rs253209266	p.Arg2314Trp	missense variant	-	NC_000071.6:g.96726919C>T	UniProt
rs31862024	p.Arg2323Ser	missense variant	-	NC_000071.6:g.96726946C>A	UniProt
rs31862714	p.Arg2386Leu	missense variant	-	NC_000071.6:g.96728566G>T	UniProt
rs227780265	p.Phe2413Ile	missense variant	-	NC_000071.6:g.96728646T>A	UniProt
rs244588649	p.Asp2457Asn	missense variant	-	NC_000071.6:g.96731694G>A	UniProt
rs260378758	p.Ala2503Val	missense variant	-	NC_000071.6:g.96733918C>T	UniProt
rs255678958	p.Thr2576Met	missense variant	-	NC_000071.6:g.96736991C>T	UniProt
rs254971449	p.Arg2592His	missense variant	-	NC_000071.6:g.96737039G>A	UniProt
rs31855884	p.Gly2623Ser	missense variant	-	NC_000071.6:g.96739227G>A	UniProt
rs48186895	p.Asp2635Asn	missense variant	-	NC_000071.6:g.96739263G>A	UniProt
rs31855885	p.Glu2657Asp	missense variant	-	NC_000071.6:g.96739331G>C	UniProt
rs31855886	p.Val2664Ile	missense variant	-	NC_000071.6:g.96739350G>A	UniProt
rs261766732	p.Pro2744His	missense variant	-	NC_000071.6:g.96740827C>A	UniProt
rs31863175	p.Ile2937Val	missense variant	-	NC_000071.6:g.96749522A>G	UniProt
rs31863176	p.Glu2964Ala	missense variant	-	NC_000071.6:g.96749604A>C	UniProt
rs236880306	p.Arg2970Lys	missense variant	-	NC_000071.6:g.96749622G>A	UniProt
rs252007916	p.Gln2983Glu	missense variant	-	NC_000071.6:g.96749660C>G	UniProt
rs46608930	p.Leu3135Pro	missense variant	-	NC_000071.6:g.96758142T>C	UniProt
rs31861096	p.Val3143Met	missense variant	-	NC_000071.6:g.96758165G>A	UniProt
rs253702594	p.Asp3235Asn	missense variant	-	NC_000071.6:g.96759660G>A	UniProt
rs33421267	p.Gln3383Arg	missense variant	-	NC_000071.6:g.96764986A>G	UniProt
rs46879015	p.Asn3395Asp	missense variant	-	NC_000071.6:g.96768291A>G	UniProt
rs244780912	p.Ala3630Ser	missense variant	-	NC_000071.6:g.96772632G>T	UniProt
rs31864685	p.Thr3833Ile	missense variant	-	NC_000071.6:g.96781236C>T	UniProt
rs252140005	p.Val3844Ala	missense variant	-	NC_000071.6:g.96781269T>C	UniProt
rs227495775	p.Met3888Ile	missense variant	-	NC_000071.6:g.96781402G>T	UniProt
rs264990256	p.Asn3980Ser	missense variant	-	NC_000071.6:g.96781677A>G	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005201	extracellular matrix structural constituent	RCA
GO:0005515	protein binding	IPI
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002009	morphogenesis of an epithelium	IMP
GO:0003338	metanephros morphogenesis	IMP
GO:0007154	cell communication	IEA
GO:0015031	protein transport	IMP
GO:0030326	embryonic limb morphogenesis	IMP
GO:0043588	skin development	IMP
GO:0060021	roof of mouth development	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005604	basement membrane	IDA
GO:0005886	plasma membrane	IEA
GO:0016021	integral component of membrane	IEA
GO:0062023	collagen-containing extracellular matrix	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0106	Calcium
KW-1003	Cell membrane
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0479	Metal-binding
KW-0597	Phosphoprotein
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

Gene: Fras1

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction