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Protein

Extracellular matrix protein FRAS1

Gene

FRAS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Extracellular matrix protein FRAS1
Gene namesi
Name:FRAS1
Synonyms:KIAA1500
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:19185. FRAS1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 3901ExtracellularSequence analysisAdd BLAST3875
Transmembranei3902 – 3922HelicalSequence analysisAdd BLAST21
Topological domaini3923 – 4008CytoplasmicSequence analysisAdd BLAST86

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Fraser syndrome (FRASS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMultisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects.
See also OMIM:219000

Organism-specific databases

DisGeNETi80144.
MalaCardsiFRAS1.
MIMi219000. phenotype.
OpenTargetsiENSG00000138759.
Orphaneti2052. Fraser syndrome.
93100. Unilateral renal agenesis.
PharmGKBiPA134980133.

Polymorphism and mutation databases

BioMutaiFRAS1.
DMDMi476007832.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000001012027 – 4008Extracellular matrix protein FRAS1Add BLAST3982

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei344PhosphoserineCombined sources1
Glycosylationi361N-linked (GlcNAc...)Sequence analysis1
Glycosylationi728N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1093N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1108N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1504N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1777N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1948N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1978N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2563N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2664N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2682N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2908N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2985N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3070N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3218N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3676N-linked (GlcNAc...)Sequence analysis1
Glycosylationi3875N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ86XX4.
MaxQBiQ86XX4.
PaxDbiQ86XX4.
PeptideAtlasiQ86XX4.
PRIDEiQ86XX4.

PTM databases

iPTMnetiQ86XX4.
PhosphoSitePlusiQ86XX4.

Expressioni

Tissue specificityi

Expressed in many adult tissues, with highest levels in kidney, pancreas and thalamus. Relatively high expression was also detected in fetal kidney and heart.1 Publication

Gene expression databases

BgeeiENSG00000138759.
CleanExiHS_FRAS1.
ExpressionAtlasiQ86XX4. baseline and differential.
GenevisibleiQ86XX4. HS.

Organism-specific databases

HPAiHPA011281.
HPA051601.

Interactioni

Protein-protein interaction databases

BioGridi123137. 33 interactors.
IntActiQ86XX4. 1 interactor.
STRINGi9606.ENSP00000264895.

Structurei

3D structure databases

ProteinModelPortaliQ86XX4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 88VWFC 1PROSITE-ProRule annotationAdd BLAST62
Domaini93 – 153VWFC 2PROSITE-ProRule annotationAdd BLAST61
Domaini157 – 217VWFC 3PROSITE-ProRule annotationAdd BLAST61
Domaini219 – 279VWFC 4PROSITE-ProRule annotationAdd BLAST61
Domaini283 – 343VWFC 5PROSITE-ProRule annotationAdd BLAST61
Domaini347 – 417VWFC 6PROSITE-ProRule annotationAdd BLAST71
Repeati409 – 460FU 1Add BLAST52
Repeati462 – 505FU 2Add BLAST44
Repeati507 – 553FU 3Add BLAST47
Repeati555 – 599FU 4Add BLAST45
Repeati602 – 647FU 5Add BLAST46
Repeati649 – 705FU 6Add BLAST57
Repeati708 – 753FU 7Add BLAST46
Repeati755 – 800FU 8Add BLAST46
Repeati803 – 852FU 9Add BLAST50
Repeati854 – 900FU 10Add BLAST47
Repeati903 – 948FU 11Add BLAST46
Repeati952 – 997FU 12Add BLAST46
Repeati999 – 1042FU 13Add BLAST44
Repeati1046 – 1089FU 14Add BLAST44
Repeati1090 – 1201CSPG 1Add BLAST112
Repeati1202 – 1310CSPG 2Add BLAST109
Repeati1311 – 1445CSPG 3Add BLAST135
Repeati1446 – 1574CSPG 4Add BLAST129
Repeati1575 – 1691CSPG 5Add BLAST117
Repeati1692 – 1821CSPG 6Add BLAST130
Repeati1822 – 1939CSPG 7Add BLAST118
Repeati1940 – 2059CSPG 8Add BLAST120
Repeati2060 – 2178CSPG 9Add BLAST119
Repeati2179 – 2293CSPG 10Add BLAST115
Repeati2294 – 2415CSPG 11Add BLAST122
Repeati2418 – 2542CSPG 12Add BLAST125
Domaini2543 – 2646Calx-beta 1Add BLAST104
Domaini2659 – 2770Calx-beta 2Add BLAST112
Domaini2784 – 2890Calx-beta 3Add BLAST107
Domaini2905 – 3007Calx-beta 4Add BLAST103
Domaini3025 – 3129Calx-beta 5Add BLAST105

Domaini

The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.By similarity

Sequence similaritiesi

Belongs to the FRAS1 family.Curated
Contains 5 Calx-beta domains.Curated
Contains 12 CSPG (NG2) repeats.Curated
Contains 14 FU (furin-like) repeats.Curated
Contains 6 VWFC domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1216. Eukaryota.
KOG1306. Eukaryota.
KOG3525. Eukaryota.
KOG3597. Eukaryota.
ENOG410XQ7P. LUCA.
GeneTreeiENSGT00550000074429.
HOGENOMiHOG000202959.
HOVERGENiHBG051659.
InParanoidiQ86XX4.
OMAiYVEYAGQ.
OrthoDBiEOG091G02YT.

Family and domain databases

InterProiIPR003644. Calx_beta.
IPR000742. EGF-like_dom.
IPR032822. FRAS1.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_.
IPR001007. VWF_dom.
[Graphical view]
PANTHERiPTHR11878:SF29. PTHR11878:SF29. 2 hits.
PfamiPF03160. Calx-beta. 5 hits.
PF00093. VWC. 4 hits.
[Graphical view]
SMARTiSM00237. Calx_beta. 5 hits.
SM00181. EGF. 9 hits.
SM00261. FU. 14 hits.
SM00214. VWC. 6 hits.
SM00215. VWC_out. 3 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 6 hits.
PROSITEiPS01208. VWFC_1. 6 hits.
PS50184. VWFC_2. 6 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86XX4-1) [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
MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR
60 70 80 90 100
CHGDIVICKP AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK
110 120 130 140 150
IHEHGTEWAS SPCSVCSCNH GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP
160 170 180 190 200
VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC LCRNGVAQCF TAQCQPLFCN
210 220 230 240 250
QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT TCICDRGEVR
260 270 280 290 300
CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG
310 320 330 340 350
SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV
360 370 380 390 400
YEETGEFMSS NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP
410 420 430 440 450
VGTLALEVKG QCCPDCTSVH CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC
460 470 480 490 500
VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE CSSCQPPLLM RHGQCVPTCG
510 520 530 540 550
DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD GGCESSCGKG
560 570 580 590 600
FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD
610 620 630 640 650
ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG
660 670 680 690 700
VCKACHSSCL ACMGPAPSHC TGCKKPEEGL QVEQLSDVGI PSGECLAQCR
710 720 730 740 750
AHFYLESTGI CEACHQSCFR CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG
760 770 780 790 800
YFHQEGSCTE CHPTCRQCHG PLESDCISCY PHISLTNGNC RTSCREEQFL
810 820 830 840 850
NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD HCVPDCPSGY
860 870 880 890 900
YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL
910 920 930 940 950
DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF
960 970 980 990 1000
STNTCKECDW SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG
1010 1020 1030 1040 1050
LCKNCDSYCL QCQGPHECTR CKGPFLLLEA QCVQECGKGY FADHAKHKCT
1060 1070 1080 1090 1100
ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV YNCVPGFSVH TSNETCSGKI
1110 1120 1130 1140 1150
HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF HVVSTPTNGQ
1160 1170 1180 1190 1200
LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ
1210 1220 1230 1240 1250
FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ
1260 1270 1280 1290 1300
DVVIEIIDPP LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS
1310 1320 1330 1340 1350
DVAVLQANDG HSFHNILFQV KTVPQNDRGL QLVANSMVWV PEGGMLQITN
1360 1370 1380 1390 1400
RILQAEAPGA SAEEIIYKIT QDYPQFGEVV LLVNMPADSP ADEGQHLPDG
1410 1420 1430 1440 1450
RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA SNAQTRLESH
1460 1470 1480 1490 1500
MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK
1510 1520 1530 1540 1550
IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL
1560 1570 1580 1590 1600
QELMAFSFAG LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT
1610 1620 1630 1640 1650
APRLAVSPGG STSVGLQVVV RDAETAPKEL FFELRRPPQH GVLLKHTAEF
1660 1670 1680 1690 1700
RRPMATGDTF TYEDVEKNAL QYIHDGSSTR EDSMEISVTD GLTVTMLEVR
1710 1720 1730 1740 1750
VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD DSSPDPEIWI
1760 1770 1780 1790 1800
QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL
1810 1820 1830 1840 1850
VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA
1860 1870 1880 1890 1900
PLSFHHFFAT DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL
1910 1920 1930 1940 1950
EASFPIQDVL ENYIYYFQSV HESIEPTHDI FSFYVSDGTS RSEIHSINIT
1960 1970 1980 1990 2000
IERKNDEPPR MTLQPLRVQL SSGVVISNSS LSLQDLDTPD NELIFVLTKK
2010 2020 2030 2040 2050
PDHGHVLWRQ TASEPLENGR VLVQGSTFTY QDILAGLVGY VPSVPGMVVD
2060 2070 2080 2090 2100
EFQFSLTDGL HVDTGRMKIY TELPASDTPH LAINQGLQLS AGSVARITEQ
2110 2120 2130 2140 2150
HLKVTDIDSD DHQVMYIMKE DPGAGRLQMM KHGNLEQISI KGPIRSFTQA
2160 2170 2180 2190 2200
DISQGQPEYS HGTGEPGGSF AFKFDVVDGE GNRLIDKSFS ISISEDKSPP
2210 2220 2230 2240 2250
VITTNKGLVL DENSVKKITT LQLSATDQDS GPTELIYRIT RQPQLGHLEH
2260 2270 2280 2290 2300
AASPGIQISS FTQADLTSRN VQYVHSSEAE KHSDAFSFTL SDGVSEVTQT
2310 2320 2330 2340 2350
FHITLHPVDD SLPVVQNLGM RVQEGMRKTI TEFELKAVDA DTEAESVTFT
2360 2370 2380 2390 2400
IVQPPRHGTI ERTSNGQHFH LTSTFTMKDI YQNRVSYSHD GSNSLKDRFT
2410 2420 2430 2440 2450
FTVSDGTNPF FIIEEGGKEI MTAAPQPFRV DILPVDDGTP RIVTNLGLQW
2460 2470 2480 2490 2500
LEYMDGKATN LITKKELLTM DPDTEDAQLV YEITTGPKHG FVENKLQPGR
2510 2520 2530 2540 2550
AAATFTQEDV NLGLIRYVLH KEKIREMMDS FQFLVKDSKP NVVSDNVFHI
2560 2570 2580 2590 2600
QWSLISFKYT SYNVSEKAGS VSVTVQRTGN LNQYAIVLCR TEQGTASSSS
2610 2620 2630 2640 2650
QPGQQDYVEY AGQVQFDERE DTKSCTIVIN DDDVFENVES FTVELSMPAY
2660 2670 2680 2690 2700
ALLGEFTQAK VIINDTEDEP TLEFDKKIYW VNESAGFLFA PIERKGDASS
2710 2720 2730 2740 2750
IVSAICYTVP KSAMGSLFYA LESGSDFKSR GMSAASRVIF GPGVTMSTCD
2760 2770 2780 2790 2800
VMLIDDSEYE EEEEFEIALA DASDNARIGR VATAKVLISG PNDASTVSLG
2810 2820 2830 2840 2850
NTAFTVSEDA GTVKIPVIRH GTDLSTFASV WCATRPSDPA SATPGVDYVP
2860 2870 2880 2890 2900
SSRKVEFGPG VIEQYCTLTI LDDTQYPVIE GLETFVVFLS SAQGAELTKP
2910 2920 2930 2940 2950
FQAVIAINDT FQDVPSMQFA KDLLLVKEKE GVLHVPITRS GDLSYESSVR
2960 2970 2980 2990 3000
CYTQSHSAQV MEDFEERQNA DSSRITFLKG DKVKNCTVYI HDDSMFEPEE
3010 3020 3030 3040 3050
QFRVYLGLPL GNHWSGARIG KNNMATITIS NDEDAPTIEF EEAAYQVREP
3060 3070 3080 3090 3100
AGPDAIAILN IKVIRRGDQN RTSKVRCSTR DGSAQSGVDY YPKSRVLKFS
3110 3120 3130 3140 3150
PGVDHIFFKV EILSNEDREW HESFSLVLGP DDPVEAVLGD VTTATVTILD
3160 3170 3180 3190 3200
QEAAGSLILP APPIVVTLAD YDHVEEVTKE GVKKSPSPGY PLVCVTPCDP
3210 3220 3230 3240 3250
HFPRYAVMKE RCSEAGINQT SVQFSWEVAA PTDGNGARSP FETITDNTPF
3260 3270 3280 3290 3300
TSVNHMVLDS IYFSRRFHVR CVAKAVDKVG HVGTPLRSNI VTIGTDSAIC
3310 3320 3330 3340 3350
HTPVVAGTSR GFQAQSFIAT LKYLDVKHKE HPNRIHISVQ IPHQDGMLPL
3360 3370 3380 3390 3400
ISTMPLHNLH FLLSESIYRH QHVCSNLVTT YDLRGLAEAG FLDDVVYDST
3410 3420 3430 3440 3450
ALGPGYDRPF QFDPSVREPK TIQLYKHLNL KSCVWTFDAY YDMTELIDVC
3460 3470 3480 3490 3500
GGSVTADFQV RDSAQSFLTV HVPLYVSYIY VTAPRGWASL EHHTEMEFSF
3510 3520 3530 3540 3550
FYDTVLWRTG IQTDSVLSAR LQIIRIYIRE DGRLVIEFKT HAKFRGQFVM
3560 3570 3580 3590 3600
EHHTLPEVKS FVLTPDHLGG IEFDLQLLWS AQTFDSPHQL WRATSSYNRK
3610 3620 3630 3640 3650
DYSGEYTIYL IPCTVQPTQP WVDPGEKPLA CTAHAPERFL IPIAFQQTNR
3660 3670 3680 3690 3700
PVPVVYSLNT EFQLCNNEKV FLMDPNTSDM SLAEMDYKGA FSKGQILYGR
3710 3720 3730 3740 3750
VLWNPEQNLN SAYKLQLEKV YLCTGKDGYV PFFDPTGTIY NEGPQYGCIQ
3760 3770 3780 3790 3800
PNKHLKHRFL LLDRNQPEVT DKYFHDVPFE AHFASELPDF HVVSNMPGVD
3810 3820 3830 3840 3850
GFTLKVDALY KVEAGHQWYL QVIYIIGPDT ISGPRVQRSL TAPLRRNRRD
3860 3870 3880 3890 3900
LVEPDGQLIL DDSLIYDNEG DQVKNGTNMK SLNLEMQELA VAASLSQTGA
3910 3920 3930 3940 3950
SIGSALAAIM LLLLVFLVAC FINRKCQKQR KKKPAEDILE EYPLNTKVEV
3960 3970 3980 3990 4000
PKRHPDRVEK NVNRHYCTVR NVNILSEPEA AYTFKGAKVK RLNLEVRVHN

NLQDGTEV
Length:4,008
Mass (Da):443,214
Last modified:April 3, 2013 - v2
Checksum:i79972020FA59C3CD
GO
Isoform 2 (identifier: Q86XX4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2156-2157: QP → HV
     2194-2194: S → L
     2598-2598: S → SSSRV
     2717-2718: LF → SL
     3386-3387: LA → IS

Note: No experimental confirmation available.
Show »
Length:4,012
Mass (Da):443,636
Checksum:i923B92CF3C8C65AE
GO
Isoform 4 (identifier: Q86XX4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     713-737: ACHQSCFRCAGKSPHNCTDCGPSHV → GQNLDFCQNLEVISAVCLGISSTEN
     738-4008: Missing.

Note: No experimental confirmation available.
Show »
Length:737
Mass (Da):79,240
Checksum:i059D9F0FD8FABD69
GO
Isoform 5 (identifier: Q86XX4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1953-1976: RKNDEPPRMTLQPLRVQLSSGVVI → VKTLEVGKVEPLTTIFHTIRELSL
     1977-4008: Missing.

Note: No experimental confirmation available.
Show »
Length:1,976
Mass (Da):216,629
Checksum:i6EBF480EBA73D9FA
GO
Isoform 6 (identifier: Q86XX4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     808-809: DC → GE
     810-4008: Missing.

Show »
Length:809
Mass (Da):87,173
Checksum:iAC5F091A6416D711
GO

Sequence cautioni

The sequence BAB15216 differs from that shown. Reason: Frameshift at positions 1858 and 1951.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06915032D → G.Corresponds to variant rs4859905dbSNPEnsembl.1
Natural variantiVAR_05580754D → H.Corresponds to variant rs17003071dbSNPEnsembl.1
Natural variantiVAR_055808209P → S.Corresponds to variant rs7699637dbSNPEnsembl.1
Natural variantiVAR_055809228Y → H.Corresponds to variant rs7682296dbSNPEnsembl.1
Natural variantiVAR_055810243I → V.Corresponds to variant rs6848030dbSNPEnsembl.1
Natural variantiVAR_055811429S → Y.Corresponds to variant rs6838959dbSNPEnsembl.1
Natural variantiVAR_055812466L → I.Corresponds to variant rs12504081dbSNPEnsembl.1
Natural variantiVAR_055813590M → T.Corresponds to variant rs35030041dbSNPEnsembl.1
Natural variantiVAR_069151687D → G.Corresponds to variant rs345513dbSNPEnsembl.1
Natural variantiVAR_069152710I → L.Corresponds to variant rs345512dbSNPEnsembl.1
Natural variantiVAR_055814817A → V.Corresponds to variant rs6835769dbSNPEnsembl.1
Natural variantiVAR_055815954T → M.Corresponds to variant rs17003166dbSNPEnsembl.1
Natural variantiVAR_0558161023G → E.Corresponds to variant rs17459809dbSNPEnsembl.1
Natural variantiVAR_0558171136E → K.Corresponds to variant rs12512164dbSNPEnsembl.1
Natural variantiVAR_0558181626A → V.Corresponds to variant rs17003213dbSNPEnsembl.1
Natural variantiVAR_0691532545D → N.Corresponds to variant rs4388111dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011287713 – 737ACHQS…GPSHV → GQNLDFCQNLEVISAVCLGI SSTEN in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_011288738 – 4008Missing in isoform 4. 1 PublicationAdd BLAST3271
Alternative sequenceiVSP_011289808 – 809DC → GE in isoform 6. 1 Publication2
Alternative sequenceiVSP_011290810 – 4008Missing in isoform 6. 1 PublicationAdd BLAST3199
Alternative sequenceiVSP_0112911953 – 1976RKNDE…SGVVI → VKTLEVGKVEPLTTIFHTIR ELSL in isoform 5. 2 PublicationsAdd BLAST24
Alternative sequenceiVSP_0112921977 – 4008Missing in isoform 5. 2 PublicationsAdd BLAST2032
Alternative sequenceiVSP_0112932156 – 2157QP → HV in isoform 2. 1 Publication2
Alternative sequenceiVSP_0112942194S → L in isoform 2. 1 Publication1
Alternative sequenceiVSP_0112952598S → SSSRV in isoform 2. 1 Publication1
Alternative sequenceiVSP_0462322717 – 2718LF → SL in isoform 2. 1 Publication2
Alternative sequenceiVSP_0112993386 – 3387LA → IS in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ512501 Genomic DNA. Translation: CAD54734.1.
AC093652 Genomic DNA. No translation available.
AC093886 Genomic DNA. No translation available.
AC093897 Genomic DNA. No translation available.
AC104808 Genomic DNA. No translation available.
AC131945 Genomic DNA. No translation available.
BC052281 mRNA. Translation: AAH52281.1.
BC064487 mRNA. Translation: AAH64487.1.
BC131820 mRNA. Translation: AAI31821.1.
AK025684 mRNA. Translation: BAB15216.1. Frameshift.
AK027833 mRNA. Translation: BAB55399.1.
AB040933 mRNA. Translation: BAA96024.2.
AL831853 mRNA. Translation: CAD38554.1.
CCDSiCCDS54771.1. [Q86XX4-2]
CCDS54772.1. [Q86XX4-5]
RefSeqiNP_001159605.1. NM_001166133.1. [Q86XX4-5]
NP_079350.5. NM_025074.6. [Q86XX4-2]
UniGeneiHs.369448.

Genome annotation databases

EnsembliENST00000325942; ENSP00000326330; ENSG00000138759. [Q86XX4-5]
ENST00000512123; ENSP00000422834; ENSG00000138759. [Q86XX4-2]
GeneIDi80144.
KEGGihsa:80144.
UCSCiuc003hkw.4. human. [Q86XX4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ512501 Genomic DNA. Translation: CAD54734.1.
AC093652 Genomic DNA. No translation available.
AC093886 Genomic DNA. No translation available.
AC093897 Genomic DNA. No translation available.
AC104808 Genomic DNA. No translation available.
AC131945 Genomic DNA. No translation available.
BC052281 mRNA. Translation: AAH52281.1.
BC064487 mRNA. Translation: AAH64487.1.
BC131820 mRNA. Translation: AAI31821.1.
AK025684 mRNA. Translation: BAB15216.1. Frameshift.
AK027833 mRNA. Translation: BAB55399.1.
AB040933 mRNA. Translation: BAA96024.2.
AL831853 mRNA. Translation: CAD38554.1.
CCDSiCCDS54771.1. [Q86XX4-2]
CCDS54772.1. [Q86XX4-5]
RefSeqiNP_001159605.1. NM_001166133.1. [Q86XX4-5]
NP_079350.5. NM_025074.6. [Q86XX4-2]
UniGeneiHs.369448.

3D structure databases

ProteinModelPortaliQ86XX4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123137. 33 interactors.
IntActiQ86XX4. 1 interactor.
STRINGi9606.ENSP00000264895.

PTM databases

iPTMnetiQ86XX4.
PhosphoSitePlusiQ86XX4.

Polymorphism and mutation databases

BioMutaiFRAS1.
DMDMi476007832.

Proteomic databases

EPDiQ86XX4.
MaxQBiQ86XX4.
PaxDbiQ86XX4.
PeptideAtlasiQ86XX4.
PRIDEiQ86XX4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325942; ENSP00000326330; ENSG00000138759. [Q86XX4-5]
ENST00000512123; ENSP00000422834; ENSG00000138759. [Q86XX4-2]
GeneIDi80144.
KEGGihsa:80144.
UCSCiuc003hkw.4. human. [Q86XX4-1]

Organism-specific databases

CTDi80144.
DisGeNETi80144.
GeneCardsiFRAS1.
HGNCiHGNC:19185. FRAS1.
HPAiHPA011281.
HPA051601.
MalaCardsiFRAS1.
MIMi219000. phenotype.
607830. gene.
neXtProtiNX_Q86XX4.
OpenTargetsiENSG00000138759.
Orphaneti2052. Fraser syndrome.
93100. Unilateral renal agenesis.
PharmGKBiPA134980133.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1216. Eukaryota.
KOG1306. Eukaryota.
KOG3525. Eukaryota.
KOG3597. Eukaryota.
ENOG410XQ7P. LUCA.
GeneTreeiENSGT00550000074429.
HOGENOMiHOG000202959.
HOVERGENiHBG051659.
InParanoidiQ86XX4.
OMAiYVEYAGQ.
OrthoDBiEOG091G02YT.

Miscellaneous databases

ChiTaRSiFRAS1. human.
GeneWikiiFRAS1.
GenomeRNAii80144.
PROiQ86XX4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138759.
CleanExiHS_FRAS1.
ExpressionAtlasiQ86XX4. baseline and differential.
GenevisibleiQ86XX4. HS.

Family and domain databases

InterProiIPR003644. Calx_beta.
IPR000742. EGF-like_dom.
IPR032822. FRAS1.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_.
IPR001007. VWF_dom.
[Graphical view]
PANTHERiPTHR11878:SF29. PTHR11878:SF29. 2 hits.
PfamiPF03160. Calx-beta. 5 hits.
PF00093. VWC. 4 hits.
[Graphical view]
SMARTiSM00237. Calx_beta. 5 hits.
SM00181. EGF. 9 hits.
SM00261. FU. 14 hits.
SM00214. VWC. 6 hits.
SM00215. VWC_out. 3 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 6 hits.
PROSITEiPS01208. VWFC_1. 6 hits.
PS50184. VWFC_2. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFRAS1_HUMAN
AccessioniPrimary (citable) accession number: Q86XX4
Secondary accession number(s): A2RRR8
, Q86UZ4, Q8N3U9, Q8NAU7, Q96JW7, Q9H6N9, Q9P228
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: April 3, 2013
Last modified: November 2, 2016
This is version 133 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.