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Q86XX4 (FRAS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Extracellular matrix protein FRAS1
Gene names
Name:FRAS1
Synonyms:KIAA1500
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4008 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Cell membrane; Single-pass type I membrane protein; Extracellular side Potential.

Tissue specificity

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

Domain

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

Involvement in disease

Fraser syndrome (FRASS) [MIM:219000]: Multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9

Sequence similarities

Belongs to the FRAS1 family.

Contains 5 Calx-beta domains.

Contains 12 CSPG (NG2) repeats.

Contains 14 FU (furin-like) repeats.

Contains 6 VWFC domains.

Sequence caution

The sequence BAB15216.1 differs from that shown. Reason: Frameshift at positions 1858 and 1951.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86XX4-1)

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.
Isoform 2 (identifier: Q86XX4-2)

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.
Isoform 4 (identifier: Q86XX4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     713-737: ACHQSCFRCAGKSPHNCTDCGPSHV → GQNLDFCQNLEVISAVCLGISSTEN
     738-4008: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q86XX4-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1953-1976: RKNDEPPRMTLQPLRVQLSSGVVI → VKTLEVGKVEPLTTIFHTIRELSL
     1977-4008: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q86XX4-6)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 40083982Extracellular matrix protein FRAS1
PRO_0000010120

Regions

Topological domain27 – 39013875Extracellular Potential
Transmembrane3902 – 392221Helical; Potential
Topological domain3923 – 400886Cytoplasmic Potential
Domain27 – 8862VWFC 1
Domain93 – 15361VWFC 2
Domain157 – 21761VWFC 3
Domain219 – 27961VWFC 4
Domain283 – 34361VWFC 5
Domain347 – 41771VWFC 6
Repeat409 – 46052FU 1
Repeat462 – 50544FU 2
Repeat507 – 55347FU 3
Repeat555 – 59945FU 4
Repeat602 – 64746FU 5
Repeat649 – 70557FU 6
Repeat708 – 75346FU 7
Repeat755 – 80046FU 8
Repeat803 – 85250FU 9
Repeat854 – 90047FU 10
Repeat903 – 94846FU 11
Repeat952 – 99746FU 12
Repeat999 – 104244FU 13
Repeat1046 – 108944FU 14
Repeat1090 – 1201112CSPG 1
Repeat1202 – 1310109CSPG 2
Repeat1311 – 1445135CSPG 3
Repeat1446 – 1574129CSPG 4
Repeat1575 – 1691117CSPG 5
Repeat1692 – 1821130CSPG 6
Repeat1822 – 1939118CSPG 7
Repeat1940 – 2059120CSPG 8
Repeat2060 – 2178119CSPG 9
Repeat2179 – 2293115CSPG 10
Repeat2294 – 2415122CSPG 11
Repeat2418 – 2542125CSPG 12
Domain2543 – 2646104Calx-beta 1
Domain2659 – 2770112Calx-beta 2
Domain2784 – 2890107Calx-beta 3
Domain2905 – 3007103Calx-beta 4
Domain3025 – 3129105Calx-beta 5

Amino acid modifications

Modified residue3441Phosphoserine Ref.7
Glycosylation3611N-linked (GlcNAc...) Potential
Glycosylation7281N-linked (GlcNAc...) Potential
Glycosylation10931N-linked (GlcNAc...) Potential
Glycosylation11081N-linked (GlcNAc...) Potential
Glycosylation15041N-linked (GlcNAc...) Potential
Glycosylation17771N-linked (GlcNAc...) Potential
Glycosylation19481N-linked (GlcNAc...) Potential
Glycosylation19781N-linked (GlcNAc...) Potential
Glycosylation25631N-linked (GlcNAc...) Potential
Glycosylation26641N-linked (GlcNAc...) Potential
Glycosylation26821N-linked (GlcNAc...) Potential
Glycosylation29081N-linked (GlcNAc...) Potential
Glycosylation29851N-linked (GlcNAc...) Potential
Glycosylation30701N-linked (GlcNAc...) Potential
Glycosylation32181N-linked (GlcNAc...) Potential
Glycosylation36761N-linked (GlcNAc...) Potential
Glycosylation38751N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence713 – 73725ACHQS…GPSHV → GQNLDFCQNLEVISAVCLGI SSTEN in isoform 4.
VSP_011287
Alternative sequence738 – 40083271Missing in isoform 4.
VSP_011288
Alternative sequence808 – 8092DC → GE in isoform 6.
VSP_011289
Alternative sequence810 – 40083199Missing in isoform 6.
VSP_011290
Alternative sequence1953 – 197624RKNDE…SGVVI → VKTLEVGKVEPLTTIFHTIR ELSL in isoform 5.
VSP_011291
Alternative sequence1977 – 40082032Missing in isoform 5.
VSP_011292
Alternative sequence2156 – 21572QP → HV in isoform 2.
VSP_011293
Alternative sequence21941S → L in isoform 2.
VSP_011294
Alternative sequence25981S → SSSRV in isoform 2.
VSP_011295
Alternative sequence2717 – 27182LF → SL in isoform 2.
VSP_046232
Alternative sequence3386 – 33872LA → IS in isoform 2.
VSP_011299
Natural variant321D → G.
Corresponds to variant rs4859905 [ dbSNP | Ensembl ].
VAR_069150
Natural variant541D → H.
Corresponds to variant rs17003071 [ dbSNP | Ensembl ].
VAR_055807
Natural variant2091P → S.
Corresponds to variant rs7699637 [ dbSNP | Ensembl ].
VAR_055808
Natural variant2281Y → H.
Corresponds to variant rs7682296 [ dbSNP | Ensembl ].
VAR_055809
Natural variant2431I → V.
Corresponds to variant rs6848030 [ dbSNP | Ensembl ].
VAR_055810
Natural variant4291S → Y.
Corresponds to variant rs6838959 [ dbSNP | Ensembl ].
VAR_055811
Natural variant4661L → I.
Corresponds to variant rs12504081 [ dbSNP | Ensembl ].
VAR_055812
Natural variant5901M → T.
Corresponds to variant rs35030041 [ dbSNP | Ensembl ].
VAR_055813
Natural variant6871D → G.
Corresponds to variant rs345513 [ dbSNP | Ensembl ].
VAR_069151
Natural variant7101I → L.
Corresponds to variant rs345512 [ dbSNP | Ensembl ].
VAR_069152
Natural variant8171A → V.
Corresponds to variant rs6835769 [ dbSNP | Ensembl ].
VAR_055814
Natural variant9541T → M.
Corresponds to variant rs17003166 [ dbSNP | Ensembl ].
VAR_055815
Natural variant10231G → E.
Corresponds to variant rs17459809 [ dbSNP | Ensembl ].
VAR_055816
Natural variant11361E → K.
Corresponds to variant rs12512164 [ dbSNP | Ensembl ].
VAR_055817
Natural variant16261A → V.
Corresponds to variant rs17003213 [ dbSNP | Ensembl ].
VAR_055818
Natural variant25451D → N.
Corresponds to variant rs4388111 [ dbSNP | Ensembl ].
VAR_069153

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 3, 2013. Version 2.
Checksum: 79972020FA59C3CD

FASTA4,008443,214
        10         20         30         40         50         60 
MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR CHGDIVICKP 

        70         80         90        100        110        120 
AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK IHEHGTEWAS SPCSVCSCNH 

       130        140        150        160        170        180 
GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC 

       190        200        210        220        230        240 
LCRNGVAQCF TAQCQPLFCN QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT 

       250        260        270        280        290        300 
TCICDRGEVR CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG 

       310        320        330        340        350        360 
SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV YEETGEFMSS 

       370        380        390        400        410        420 
NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP VGTLALEVKG QCCPDCTSVH 

       430        440        450        460        470        480 
CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE 

       490        500        510        520        530        540 
CSSCQPPLLM RHGQCVPTCG DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD 

       550        560        570        580        590        600 
GGCESSCGKG FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD 

       610        620        630        640        650        660 
ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG VCKACHSSCL 

       670        680        690        700        710        720 
ACMGPAPSHC TGCKKPEEGL QVEQLSDVGI PSGECLAQCR AHFYLESTGI CEACHQSCFR 

       730        740        750        760        770        780 
CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG YFHQEGSCTE CHPTCRQCHG PLESDCISCY 

       790        800        810        820        830        840 
PHISLTNGNC RTSCREEQFL NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD 

       850        860        870        880        890        900 
HCVPDCPSGY YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL 

       910        920        930        940        950        960 
DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF STNTCKECDW 

       970        980        990       1000       1010       1020 
SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG LCKNCDSYCL QCQGPHECTR 

      1030       1040       1050       1060       1070       1080 
CKGPFLLLEA QCVQECGKGY FADHAKHKCT ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV 

      1090       1100       1110       1120       1130       1140 
YNCVPGFSVH TSNETCSGKI HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF 

      1150       1160       1170       1180       1190       1200 
HVVSTPTNGQ LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ 

      1210       1220       1230       1240       1250       1260 
FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ DVVIEIIDPP 

      1270       1280       1290       1300       1310       1320 
LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS DVAVLQANDG HSFHNILFQV 

      1330       1340       1350       1360       1370       1380 
KTVPQNDRGL QLVANSMVWV PEGGMLQITN RILQAEAPGA SAEEIIYKIT QDYPQFGEVV 

      1390       1400       1410       1420       1430       1440 
LLVNMPADSP ADEGQHLPDG RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA 

      1450       1460       1470       1480       1490       1500 
SNAQTRLESH MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK 

      1510       1520       1530       1540       1550       1560 
IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL QELMAFSFAG 

      1570       1580       1590       1600       1610       1620 
LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT APRLAVSPGG STSVGLQVVV 

      1630       1640       1650       1660       1670       1680 
RDAETAPKEL FFELRRPPQH GVLLKHTAEF RRPMATGDTF TYEDVEKNAL QYIHDGSSTR 

      1690       1700       1710       1720       1730       1740 
EDSMEISVTD GLTVTMLEVR VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD 

      1750       1760       1770       1780       1790       1800 
DSSPDPEIWI QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL 

      1810       1820       1830       1840       1850       1860 
VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA PLSFHHFFAT 

      1870       1880       1890       1900       1910       1920 
DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL EASFPIQDVL ENYIYYFQSV 

      1930       1940       1950       1960       1970       1980 
HESIEPTHDI FSFYVSDGTS RSEIHSINIT IERKNDEPPR MTLQPLRVQL SSGVVISNSS 

      1990       2000       2010       2020       2030       2040 
LSLQDLDTPD NELIFVLTKK PDHGHVLWRQ TASEPLENGR VLVQGSTFTY QDILAGLVGY 

      2050       2060       2070       2080       2090       2100 
VPSVPGMVVD EFQFSLTDGL HVDTGRMKIY TELPASDTPH LAINQGLQLS AGSVARITEQ 

      2110       2120       2130       2140       2150       2160 
HLKVTDIDSD DHQVMYIMKE DPGAGRLQMM KHGNLEQISI KGPIRSFTQA DISQGQPEYS 

      2170       2180       2190       2200       2210       2220 
HGTGEPGGSF AFKFDVVDGE GNRLIDKSFS ISISEDKSPP VITTNKGLVL DENSVKKITT 

      2230       2240       2250       2260       2270       2280 
LQLSATDQDS GPTELIYRIT RQPQLGHLEH AASPGIQISS FTQADLTSRN VQYVHSSEAE 

      2290       2300       2310       2320       2330       2340 
KHSDAFSFTL SDGVSEVTQT FHITLHPVDD SLPVVQNLGM RVQEGMRKTI TEFELKAVDA 

      2350       2360       2370       2380       2390       2400 
DTEAESVTFT IVQPPRHGTI ERTSNGQHFH LTSTFTMKDI YQNRVSYSHD GSNSLKDRFT 

      2410       2420       2430       2440       2450       2460 
FTVSDGTNPF FIIEEGGKEI MTAAPQPFRV DILPVDDGTP RIVTNLGLQW LEYMDGKATN 

      2470       2480       2490       2500       2510       2520 
LITKKELLTM DPDTEDAQLV YEITTGPKHG FVENKLQPGR AAATFTQEDV NLGLIRYVLH 

      2530       2540       2550       2560       2570       2580 
KEKIREMMDS FQFLVKDSKP NVVSDNVFHI QWSLISFKYT SYNVSEKAGS VSVTVQRTGN 

      2590       2600       2610       2620       2630       2640 
LNQYAIVLCR TEQGTASSSS QPGQQDYVEY AGQVQFDERE DTKSCTIVIN DDDVFENVES 

      2650       2660       2670       2680       2690       2700 
FTVELSMPAY ALLGEFTQAK VIINDTEDEP TLEFDKKIYW VNESAGFLFA PIERKGDASS 

      2710       2720       2730       2740       2750       2760 
IVSAICYTVP KSAMGSLFYA LESGSDFKSR GMSAASRVIF GPGVTMSTCD VMLIDDSEYE 

      2770       2780       2790       2800       2810       2820 
EEEEFEIALA DASDNARIGR VATAKVLISG PNDASTVSLG NTAFTVSEDA GTVKIPVIRH 

      2830       2840       2850       2860       2870       2880 
GTDLSTFASV WCATRPSDPA SATPGVDYVP SSRKVEFGPG VIEQYCTLTI LDDTQYPVIE 

      2890       2900       2910       2920       2930       2940 
GLETFVVFLS SAQGAELTKP FQAVIAINDT FQDVPSMQFA KDLLLVKEKE GVLHVPITRS 

      2950       2960       2970       2980       2990       3000 
GDLSYESSVR CYTQSHSAQV MEDFEERQNA DSSRITFLKG DKVKNCTVYI HDDSMFEPEE 

      3010       3020       3030       3040       3050       3060 
QFRVYLGLPL GNHWSGARIG KNNMATITIS NDEDAPTIEF EEAAYQVREP AGPDAIAILN 

      3070       3080       3090       3100       3110       3120 
IKVIRRGDQN RTSKVRCSTR DGSAQSGVDY YPKSRVLKFS PGVDHIFFKV EILSNEDREW 

      3130       3140       3150       3160       3170       3180 
HESFSLVLGP DDPVEAVLGD VTTATVTILD QEAAGSLILP APPIVVTLAD YDHVEEVTKE 

      3190       3200       3210       3220       3230       3240 
GVKKSPSPGY PLVCVTPCDP HFPRYAVMKE RCSEAGINQT SVQFSWEVAA PTDGNGARSP 

      3250       3260       3270       3280       3290       3300 
FETITDNTPF TSVNHMVLDS IYFSRRFHVR CVAKAVDKVG HVGTPLRSNI VTIGTDSAIC 

      3310       3320       3330       3340       3350       3360 
HTPVVAGTSR GFQAQSFIAT LKYLDVKHKE HPNRIHISVQ IPHQDGMLPL ISTMPLHNLH 

      3370       3380       3390       3400       3410       3420 
FLLSESIYRH QHVCSNLVTT YDLRGLAEAG FLDDVVYDST ALGPGYDRPF QFDPSVREPK 

      3430       3440       3450       3460       3470       3480 
TIQLYKHLNL KSCVWTFDAY YDMTELIDVC GGSVTADFQV RDSAQSFLTV HVPLYVSYIY 

      3490       3500       3510       3520       3530       3540 
VTAPRGWASL EHHTEMEFSF FYDTVLWRTG IQTDSVLSAR LQIIRIYIRE DGRLVIEFKT 

      3550       3560       3570       3580       3590       3600 
HAKFRGQFVM EHHTLPEVKS FVLTPDHLGG IEFDLQLLWS AQTFDSPHQL WRATSSYNRK 

      3610       3620       3630       3640       3650       3660 
DYSGEYTIYL IPCTVQPTQP WVDPGEKPLA CTAHAPERFL IPIAFQQTNR PVPVVYSLNT 

      3670       3680       3690       3700       3710       3720 
EFQLCNNEKV FLMDPNTSDM SLAEMDYKGA FSKGQILYGR VLWNPEQNLN SAYKLQLEKV 

      3730       3740       3750       3760       3770       3780 
YLCTGKDGYV PFFDPTGTIY NEGPQYGCIQ PNKHLKHRFL LLDRNQPEVT DKYFHDVPFE 

      3790       3800       3810       3820       3830       3840 
AHFASELPDF HVVSNMPGVD GFTLKVDALY KVEAGHQWYL QVIYIIGPDT ISGPRVQRSL 

      3850       3860       3870       3880       3890       3900 
TAPLRRNRRD LVEPDGQLIL DDSLIYDNEG DQVKNGTNMK SLNLEMQELA VAASLSQTGA 

      3910       3920       3930       3940       3950       3960 
SIGSALAAIM LLLLVFLVAC FINRKCQKQR KKKPAEDILE EYPLNTKVEV PKRHPDRVEK 

      3970       3980       3990       4000 
NVNRHYCTVR NVNILSEPEA AYTFKGAKVK RLNLEVRVHN NLQDGTEV 

« Hide

Isoform 2 [UniParc].

Checksum: 923B92CF3C8C65AE
Show »

FASTA4,012443,636
Isoform 4 [UniParc].

Checksum: 059D9F0FD8FABD69
Show »

FASTA73779,240
Isoform 5 [UniParc].

Checksum: 6EBF480EBA73D9FA
Show »

FASTA1,976216,629
Isoform 6 [UniParc].

Checksum: AC5F091A6416D711
Show »

FASTA80987,173

References

« Hide 'large scale' references
[1]"Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein."
McGregor L.K., Makela V., Darling S.M., Vrontou S., Chalepakis G., Roberts C., Smart N., Rutland P., Prescott N., Hopkins J., Bentley E., Shaw A., Roberts E., Mueller R., Jadeja S., Philip N., Nelson J., Francannet C. expand/collapse author list , Perez-Aytes A., Megarbane A., Kerr B., Wainwright B., Woolf A.S., Winter R.M., Scambler P.J.
Nat. Genet. 34:203-208(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), TISSUE SPECIFICITY, DISEASE.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 159-4008 (ISOFORM 6).
Tissue: Ovary.
[4]"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. expand/collapse author list , 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] OF 193-4008 (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1560-1953 (ISOFORM 1).
Tissue: Placenta.
[5]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1773-4008 (ISOFORM 2).
Tissue: Brain.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1773-4008 (ISOFORM 5).
Tissue: Amygdala.
[7]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-344, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1."
Hoefele J., Wilhelm C., Schiesser M., Mack R., Heinrich U., Weber L.T., Biskup S., Daumer-Haas C., Klein H.G., Rost I.
Gene 520:194-197(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN FRASS.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001159605.1. NM_001166133.1.
NP_079350.5. NM_025074.6.
UniGeneHs.369448.

3D structure databases

ProteinModelPortalQ86XX4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123137. 2 interactions.
IntActQ86XX4. 1 interaction.
STRING9606.ENSP00000264895.

PTM databases

PhosphoSiteQ86XX4.

Polymorphism databases

DMDM476007832.

Proteomic databases

PaxDbQ86XX4.
PRIDEQ86XX4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264895; ENSP00000264895; ENSG00000138759. [Q86XX4-2]
ENST00000264899; ENSP00000264899; ENSG00000138759. [Q86XX4-4]
ENST00000325942; ENSP00000326330; ENSG00000138759. [Q86XX4-5]
GeneID80144.
KEGGhsa:80144.
UCSCuc003hkw.3. human.

Organism-specific databases

CTD80144.
GeneCardsGC04P078978.
HGNCHGNC:19185. FRAS1.
HPAHPA011281.
MIM219000. phenotype.
607830. gene.
neXtProtNX_Q86XX4.
Orphanet2052. Fraser syndrome.
PharmGKBPA134980133.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOVERGENHBG051659.
InParanoidQ86XX4.
OMAYVEYAGQ.
OrthoDBEOG751NDJ.

Gene expression databases

ArrayExpressQ86XX4.
CleanExHS_FRAS1.
GenevestigatorQ86XX4.

Family and domain databases

InterProIPR003644. Calx_beta.
IPR000742. EG-like_dom.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_N_dom.
IPR001007. VWF_C.
[Graphical view]
PfamPF03160. Calx-beta. 5 hits.
PF00093. VWC. 4 hits.
[Graphical view]
SMARTSM00237. Calx_beta. 5 hits.
SM00181. EGF. 1 hit.
SM00261. FU. 14 hits.
SM00214. VWC. 6 hits.
[Graphical view]
SUPFAMSSF57184. SSF57184. 6 hits.
PROSITEPS01208. VWFC_1. 6 hits.
PS50184. VWFC_2. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFRAS1. human.
GeneWikiFRAS1.
GenomeRNAi80144.
NextBio70414.
PROQ86XX4.
SOURCESearch...

Entry information

Entry nameFRAS1_HUMAN
AccessionPrimary (citable) accession number: Q86XX4
Secondary accession number(s): A2RRR8 expand/collapse secondary AC list , Q86UZ4, Q8N3U9, Q8NAU7, Q96JW7, Q9H6N9, Q9P228
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: April 3, 2013
Last modified: April 16, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM