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Q86XX4

- FRAS1_HUMAN

UniProt

Q86XX4 - FRAS1_HUMAN

Protein

Extracellular matrix protein FRAS1

Gene

FRAS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 2 (03 Apr 2013)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. cell communication Source: InterPro
    2. morphogenesis of an epithelium Source: Ensembl
    3. protein transport Source: Ensembl
    4. skin development Source: Ensembl

    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

    GO - Cellular componenti

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

    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.
    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

    ArrayExpressiQ86XX4.
    CleanExiHS_FRAS1.
    GenevestigatoriQ86XX4.

    Organism-specific databases

    HPAiHPA011281.

    Interactioni

    Protein-protein interaction databases

    BioGridi123137. 2 interactions.
    IntActiQ86XX4. 1 interaction.
    STRINGi9606.ENSP00000264895.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86XX4.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei3902 – 392221HelicalSequence AnalysisAdd
    BLAST

    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.
    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

    MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR     50
    CHGDIVICKP AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK 100
    IHEHGTEWAS SPCSVCSCNH GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP 150
    VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC LCRNGVAQCF TAQCQPLFCN 200
    QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT TCICDRGEVR 250
    CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG 300
    SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV 350
    YEETGEFMSS NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP 400
    VGTLALEVKG QCCPDCTSVH CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC 450
    VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE CSSCQPPLLM RHGQCVPTCG 500
    DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD GGCESSCGKG 550
    FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD 600
    ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG 650
    VCKACHSSCL ACMGPAPSHC TGCKKPEEGL QVEQLSDVGI PSGECLAQCR 700
    AHFYLESTGI CEACHQSCFR CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG 750
    YFHQEGSCTE CHPTCRQCHG PLESDCISCY PHISLTNGNC RTSCREEQFL 800
    NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD HCVPDCPSGY 850
    YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL 900
    DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF 950
    STNTCKECDW SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG 1000
    LCKNCDSYCL QCQGPHECTR CKGPFLLLEA QCVQECGKGY FADHAKHKCT 1050
    ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV YNCVPGFSVH TSNETCSGKI 1100
    HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF HVVSTPTNGQ 1150
    LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ 1200
    FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ 1250
    DVVIEIIDPP LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS 1300
    DVAVLQANDG HSFHNILFQV KTVPQNDRGL QLVANSMVWV PEGGMLQITN 1350
    RILQAEAPGA SAEEIIYKIT QDYPQFGEVV LLVNMPADSP ADEGQHLPDG 1400
    RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA SNAQTRLESH 1450
    MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK 1500
    IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL 1550
    QELMAFSFAG LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT 1600
    APRLAVSPGG STSVGLQVVV RDAETAPKEL FFELRRPPQH GVLLKHTAEF 1650
    RRPMATGDTF TYEDVEKNAL QYIHDGSSTR EDSMEISVTD GLTVTMLEVR 1700
    VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD DSSPDPEIWI 1750
    QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL 1800
    VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA 1850
    PLSFHHFFAT DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL 1900
    EASFPIQDVL ENYIYYFQSV HESIEPTHDI FSFYVSDGTS RSEIHSINIT 1950
    IERKNDEPPR MTLQPLRVQL SSGVVISNSS LSLQDLDTPD NELIFVLTKK 2000
    PDHGHVLWRQ TASEPLENGR VLVQGSTFTY QDILAGLVGY VPSVPGMVVD 2050
    EFQFSLTDGL HVDTGRMKIY TELPASDTPH LAINQGLQLS AGSVARITEQ 2100
    HLKVTDIDSD DHQVMYIMKE DPGAGRLQMM KHGNLEQISI KGPIRSFTQA 2150
    DISQGQPEYS HGTGEPGGSF AFKFDVVDGE GNRLIDKSFS ISISEDKSPP 2200
    VITTNKGLVL DENSVKKITT LQLSATDQDS GPTELIYRIT RQPQLGHLEH 2250
    AASPGIQISS FTQADLTSRN VQYVHSSEAE KHSDAFSFTL SDGVSEVTQT 2300
    FHITLHPVDD SLPVVQNLGM RVQEGMRKTI TEFELKAVDA DTEAESVTFT 2350
    IVQPPRHGTI ERTSNGQHFH LTSTFTMKDI YQNRVSYSHD GSNSLKDRFT 2400
    FTVSDGTNPF FIIEEGGKEI MTAAPQPFRV DILPVDDGTP RIVTNLGLQW 2450
    LEYMDGKATN LITKKELLTM DPDTEDAQLV YEITTGPKHG FVENKLQPGR 2500
    AAATFTQEDV NLGLIRYVLH KEKIREMMDS FQFLVKDSKP NVVSDNVFHI 2550
    QWSLISFKYT SYNVSEKAGS VSVTVQRTGN LNQYAIVLCR TEQGTASSSS 2600
    QPGQQDYVEY AGQVQFDERE DTKSCTIVIN DDDVFENVES FTVELSMPAY 2650
    ALLGEFTQAK VIINDTEDEP TLEFDKKIYW VNESAGFLFA PIERKGDASS 2700
    IVSAICYTVP KSAMGSLFYA LESGSDFKSR GMSAASRVIF GPGVTMSTCD 2750
    VMLIDDSEYE EEEEFEIALA DASDNARIGR VATAKVLISG PNDASTVSLG 2800
    NTAFTVSEDA GTVKIPVIRH GTDLSTFASV WCATRPSDPA SATPGVDYVP 2850
    SSRKVEFGPG VIEQYCTLTI LDDTQYPVIE GLETFVVFLS SAQGAELTKP 2900
    FQAVIAINDT FQDVPSMQFA KDLLLVKEKE GVLHVPITRS GDLSYESSVR 2950
    CYTQSHSAQV MEDFEERQNA DSSRITFLKG DKVKNCTVYI HDDSMFEPEE 3000
    QFRVYLGLPL GNHWSGARIG KNNMATITIS NDEDAPTIEF EEAAYQVREP 3050
    AGPDAIAILN IKVIRRGDQN RTSKVRCSTR DGSAQSGVDY YPKSRVLKFS 3100
    PGVDHIFFKV EILSNEDREW HESFSLVLGP DDPVEAVLGD VTTATVTILD 3150
    QEAAGSLILP APPIVVTLAD YDHVEEVTKE GVKKSPSPGY PLVCVTPCDP 3200
    HFPRYAVMKE RCSEAGINQT SVQFSWEVAA PTDGNGARSP FETITDNTPF 3250
    TSVNHMVLDS IYFSRRFHVR CVAKAVDKVG HVGTPLRSNI VTIGTDSAIC 3300
    HTPVVAGTSR GFQAQSFIAT LKYLDVKHKE HPNRIHISVQ IPHQDGMLPL 3350
    ISTMPLHNLH FLLSESIYRH QHVCSNLVTT YDLRGLAEAG FLDDVVYDST 3400
    ALGPGYDRPF QFDPSVREPK TIQLYKHLNL KSCVWTFDAY YDMTELIDVC 3450
    GGSVTADFQV RDSAQSFLTV HVPLYVSYIY VTAPRGWASL EHHTEMEFSF 3500
    FYDTVLWRTG IQTDSVLSAR LQIIRIYIRE DGRLVIEFKT HAKFRGQFVM 3550
    EHHTLPEVKS FVLTPDHLGG IEFDLQLLWS AQTFDSPHQL WRATSSYNRK 3600
    DYSGEYTIYL IPCTVQPTQP WVDPGEKPLA CTAHAPERFL IPIAFQQTNR 3650
    PVPVVYSLNT EFQLCNNEKV FLMDPNTSDM SLAEMDYKGA FSKGQILYGR 3700
    VLWNPEQNLN SAYKLQLEKV YLCTGKDGYV PFFDPTGTIY NEGPQYGCIQ 3750
    PNKHLKHRFL LLDRNQPEVT DKYFHDVPFE AHFASELPDF HVVSNMPGVD 3800
    GFTLKVDALY KVEAGHQWYL QVIYIIGPDT ISGPRVQRSL TAPLRRNRRD 3850
    LVEPDGQLIL DDSLIYDNEG DQVKNGTNMK SLNLEMQELA VAASLSQTGA 3900
    SIGSALAAIM LLLLVFLVAC FINRKCQKQR KKKPAEDILE EYPLNTKVEV 3950
    PKRHPDRVEK NVNRHYCTVR NVNILSEPEA AYTFKGAKVK RLNLEVRVHN 4000
    NLQDGTEV 4008
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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

    EnsembliENST00000264899; ENSP00000264899; ENSG00000138759. [Q86XX4-4]
    ENST00000325942; 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:
    EMBL
    GenBank
    DDBJ
    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 CCDS54771.1. [Q86XX4-2 ]
    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. 2 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 ENST00000264899 ; ENSP00000264899 ; ENSG00000138759 . [Q86XX4-4 ]
    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.
    PharmGKBi PA134980133.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    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

    ArrayExpressi Q86XX4.
    CleanExi HS_FRAS1.
    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

    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 1, 2014
    This is version 114 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