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Q86XX4

- FRAS1_HUMAN

UniProt

Q86XX4 - FRAS1_HUMAN

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Protein

Extracellular matrix protein FRAS1

Gene

FRAS1

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

Functioni

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. cell communication Source: InterPro
  2. embryonic limb morphogenesis Source: Ensembl
  3. metanephros morphogenesis Source: Ensembl
  4. morphogenesis of an epithelium Source: Ensembl
  5. palate development Source: Ensembl
  6. protein transport Source: Ensembl
  7. skin development Source: Ensembl
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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:19185. FRAS1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 39013875ExtracellularSequence AnalysisAdd
BLAST
Transmembranei3902 – 392221HelicalSequence AnalysisAdd
BLAST
Topological domaini3923 – 400886CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-KW
  3. sublamina densa Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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

Organism-specific databases

MIMi219000. phenotype.
Orphaneti2052. Fraser syndrome.
93100. Unilateral renal agenesis.
PharmGKBiPA134980133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 40083982Extracellular matrix protein FRAS1PRO_0000010120Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei344 – 3441Phosphoserine1 Publication
Glycosylationi361 – 3611N-linked (GlcNAc...)Sequence Analysis
Glycosylationi728 – 7281N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1093 – 10931N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1108 – 11081N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1504 – 15041N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1777 – 17771N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1948 – 19481N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1978 – 19781N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2563 – 25631N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2664 – 26641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2682 – 26821N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2908 – 29081N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2985 – 29851N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3070 – 30701N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3218 – 32181N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3676 – 36761N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3875 – 38751N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ86XX4.
PaxDbiQ86XX4.
PRIDEiQ86XX4.

PTM databases

PhosphoSiteiQ86XX4.

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

CleanExiHS_FRAS1.
ExpressionAtlasiQ86XX4. baseline and differential.
GenevestigatoriQ86XX4.

Organism-specific databases

HPAiHPA011281.

Interactioni

Protein-protein interaction databases

BioGridi123137. 16 interactions.
IntActiQ86XX4. 1 interaction.
STRINGi9606.ENSP00000264895.

Structurei

3D structure databases

ProteinModelPortaliQ86XX4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini27 – 8862VWFC 1PROSITE-ProRule annotationAdd
BLAST
Domaini93 – 15361VWFC 2PROSITE-ProRule annotationAdd
BLAST
Domaini157 – 21761VWFC 3PROSITE-ProRule annotationAdd
BLAST
Domaini219 – 27961VWFC 4PROSITE-ProRule annotationAdd
BLAST
Domaini283 – 34361VWFC 5PROSITE-ProRule annotationAdd
BLAST
Domaini347 – 41771VWFC 6PROSITE-ProRule annotationAdd
BLAST
Repeati409 – 46052FU 1Add
BLAST
Repeati462 – 50544FU 2Add
BLAST
Repeati507 – 55347FU 3Add
BLAST
Repeati555 – 59945FU 4Add
BLAST
Repeati602 – 64746FU 5Add
BLAST
Repeati649 – 70557FU 6Add
BLAST
Repeati708 – 75346FU 7Add
BLAST
Repeati755 – 80046FU 8Add
BLAST
Repeati803 – 85250FU 9Add
BLAST
Repeati854 – 90047FU 10Add
BLAST
Repeati903 – 94846FU 11Add
BLAST
Repeati952 – 99746FU 12Add
BLAST
Repeati999 – 104244FU 13Add
BLAST
Repeati1046 – 108944FU 14Add
BLAST
Repeati1090 – 1201112CSPG 1Add
BLAST
Repeati1202 – 1310109CSPG 2Add
BLAST
Repeati1311 – 1445135CSPG 3Add
BLAST
Repeati1446 – 1574129CSPG 4Add
BLAST
Repeati1575 – 1691117CSPG 5Add
BLAST
Repeati1692 – 1821130CSPG 6Add
BLAST
Repeati1822 – 1939118CSPG 7Add
BLAST
Repeati1940 – 2059120CSPG 8Add
BLAST
Repeati2060 – 2178119CSPG 9Add
BLAST
Repeati2179 – 2293115CSPG 10Add
BLAST
Repeati2294 – 2415122CSPG 11Add
BLAST
Repeati2418 – 2542125CSPG 12Add
BLAST
Domaini2543 – 2646104Calx-beta 1Add
BLAST
Domaini2659 – 2770112Calx-beta 2Add
BLAST
Domaini2784 – 2890107Calx-beta 3Add
BLAST
Domaini2905 – 3007103Calx-beta 4Add
BLAST
Domaini3025 – 3129105Calx-beta 5Add
BLAST

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

eggNOGiNOG12793.
GeneTreeiENSGT00550000074429.
HOVERGENiHBG051659.
InParanoidiQ86XX4.
OMAiFTMEDIN.
OrthoDBiEOG751NDJ.

Family and domain databases

InterProiIPR003644. Calx_beta.
IPR000742. EG-like_dom.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_N_dom.
IPR001007. VWF_C.
[Graphical view]
PfamiPF03160. Calx-beta. 5 hits.
PF00093. VWC. 4 hits.
[Graphical view]
SMARTiSM00237. Calx_beta. 5 hits.
SM00181. EGF. 1 hit.
SM00261. FU. 14 hits.
SM00214. VWC. 6 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. Align

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321D → G.
Corresponds to variant rs4859905 [ dbSNP | Ensembl ].
VAR_069150
Natural varianti54 – 541D → H.
Corresponds to variant rs17003071 [ dbSNP | Ensembl ].
VAR_055807
Natural varianti209 – 2091P → S.
Corresponds to variant rs7699637 [ dbSNP | Ensembl ].
VAR_055808
Natural varianti228 – 2281Y → H.
Corresponds to variant rs7682296 [ dbSNP | Ensembl ].
VAR_055809
Natural varianti243 – 2431I → V.
Corresponds to variant rs6848030 [ dbSNP | Ensembl ].
VAR_055810
Natural varianti429 – 4291S → Y.
Corresponds to variant rs6838959 [ dbSNP | Ensembl ].
VAR_055811
Natural varianti466 – 4661L → I.
Corresponds to variant rs12504081 [ dbSNP | Ensembl ].
VAR_055812
Natural varianti590 – 5901M → T.
Corresponds to variant rs35030041 [ dbSNP | Ensembl ].
VAR_055813
Natural varianti687 – 6871D → G.
Corresponds to variant rs345513 [ dbSNP | Ensembl ].
VAR_069151
Natural varianti710 – 7101I → L.
Corresponds to variant rs345512 [ dbSNP | Ensembl ].
VAR_069152
Natural varianti817 – 8171A → V.
Corresponds to variant rs6835769 [ dbSNP | Ensembl ].
VAR_055814
Natural varianti954 – 9541T → M.
Corresponds to variant rs17003166 [ dbSNP | Ensembl ].
VAR_055815
Natural varianti1023 – 10231G → E.
Corresponds to variant rs17459809 [ dbSNP | Ensembl ].
VAR_055816
Natural varianti1136 – 11361E → K.
Corresponds to variant rs12512164 [ dbSNP | Ensembl ].
VAR_055817
Natural varianti1626 – 16261A → V.
Corresponds to variant rs17003213 [ dbSNP | Ensembl ].
VAR_055818
Natural varianti2545 – 25451D → N.
Corresponds to variant rs4388111 [ dbSNP | Ensembl ].
VAR_069153

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei713 – 73725ACHQS…GPSHV → GQNLDFCQNLEVISAVCLGI SSTEN in isoform 4. 1 PublicationVSP_011287Add
BLAST
Alternative sequencei738 – 40083271Missing in isoform 4. 1 PublicationVSP_011288Add
BLAST
Alternative sequencei808 – 8092DC → GE in isoform 6. 1 PublicationVSP_011289
Alternative sequencei810 – 40083199Missing in isoform 6. 1 PublicationVSP_011290Add
BLAST
Alternative sequencei1953 – 197624RKNDE…SGVVI → VKTLEVGKVEPLTTIFHTIR ELSL in isoform 5. 2 PublicationsVSP_011291Add
BLAST
Alternative sequencei1977 – 40082032Missing in isoform 5. 2 PublicationsVSP_011292Add
BLAST
Alternative sequencei2156 – 21572QP → HV in isoform 2. 1 PublicationVSP_011293
Alternative sequencei2194 – 21941S → L in isoform 2. 1 PublicationVSP_011294
Alternative sequencei2598 – 25981S → SSSRV in isoform 2. 1 PublicationVSP_011295
Alternative sequencei2717 – 27182LF → SL in isoform 2. 1 PublicationVSP_046232
Alternative sequencei3386 – 33872LA → IS in isoform 2. 1 PublicationVSP_011299

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.
CCDSiCCDS54772.1. [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]
GeneIDi80144.
KEGGihsa:80144.
UCSCiuc003hkw.3. human.

Polymorphism databases

DMDMi476007832.

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 .
CCDSi CCDS54772.1. [Q86XX4-5 ]
RefSeqi NP_001159605.1. NM_001166133.1. [Q86XX4-5 ]
NP_079350.5. NM_025074.6. [Q86XX4-2 ]
UniGenei Hs.369448.

3D structure databases

ProteinModelPortali Q86XX4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123137. 16 interactions.
IntActi Q86XX4. 1 interaction.
STRINGi 9606.ENSP00000264895.

PTM databases

PhosphoSitei Q86XX4.

Polymorphism databases

DMDMi 476007832.

Proteomic databases

MaxQBi Q86XX4.
PaxDbi Q86XX4.
PRIDEi Q86XX4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000325942 ; ENSP00000326330 ; ENSG00000138759 . [Q86XX4-5 ]
GeneIDi 80144.
KEGGi hsa:80144.
UCSCi uc003hkw.3. human.

Organism-specific databases

CTDi 80144.
GeneCardsi GC04P078978.
HGNCi HGNC:19185. FRAS1.
HPAi HPA011281.
MIMi 219000. phenotype.
607830. gene.
neXtProti NX_Q86XX4.
Orphaneti 2052. Fraser syndrome.
93100. Unilateral renal agenesis.
PharmGKBi PA134980133.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00550000074429.
HOVERGENi HBG051659.
InParanoidi Q86XX4.
OMAi FTMEDIN.
OrthoDBi EOG751NDJ.

Miscellaneous databases

ChiTaRSi FRAS1. human.
GeneWikii FRAS1.
GenomeRNAii 80144.
NextBioi 70414.
PROi Q86XX4.
SOURCEi Search...

Gene expression databases

CleanExi HS_FRAS1.
ExpressionAtlasi Q86XX4. baseline and differential.
Genevestigatori Q86XX4.

Family and domain databases

InterProi IPR003644. Calx_beta.
IPR000742. EG-like_dom.
IPR006212. Furin_repeat.
IPR009030. Growth_fac_rcpt_N_dom.
IPR001007. VWF_C.
[Graphical view ]
Pfami PF03160. Calx-beta. 5 hits.
PF00093. VWC. 4 hits.
[Graphical view ]
SMARTi SM00237. Calx_beta. 5 hits.
SM00181. EGF. 1 hit.
SM00261. FU. 14 hits.
SM00214. VWC. 6 hits.
[Graphical view ]
SUPFAMi SSF57184. SSF57184. 6 hits.
PROSITEi PS01208. VWFC_1. 6 hits.
PS50184. VWFC_2. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.
    , 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. 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. 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.

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: October 29, 2014
This is version 115 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

External Data

Dasty 3