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Q86XX4

- FRAS1_HUMAN

UniProt

Q86XX4 - FRAS1_HUMAN

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Protein
Extracellular matrix protein FRAS1
Gene
FRAS1, KIAA1500
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. morphogenesis of an epithelium Source: Ensembl
  3. protein transport Source: Ensembl
  4. 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 – 39013875Extracellular Reviewed prediction
Add
BLAST
Transmembranei3902 – 392221Helical; Reviewed prediction
Add
BLAST
Topological domaini3923 – 400886Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-SubCell
  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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

Organism-specific databases

MIMi219000. phenotype.
Orphaneti2052. Fraser syndrome.
PharmGKBiPA134980133.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626 Reviewed prediction
Add
BLAST
Chaini27 – 40083982Extracellular matrix protein FRAS1
PRO_0000010120Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini27 – 8862VWFC 1
Add
BLAST
Domaini93 – 15361VWFC 2
Add
BLAST
Domaini157 – 21761VWFC 3
Add
BLAST
Domaini219 – 27961VWFC 4
Add
BLAST
Domaini283 – 34361VWFC 5
Add
BLAST
Domaini347 – 41771VWFC 6
Add
BLAST
Repeati409 – 46052FU 1
Add
BLAST
Repeati462 – 50544FU 2
Add
BLAST
Repeati507 – 55347FU 3
Add
BLAST
Repeati555 – 59945FU 4
Add
BLAST
Repeati602 – 64746FU 5
Add
BLAST
Repeati649 – 70557FU 6
Add
BLAST
Repeati708 – 75346FU 7
Add
BLAST
Repeati755 – 80046FU 8
Add
BLAST
Repeati803 – 85250FU 9
Add
BLAST
Repeati854 – 90047FU 10
Add
BLAST
Repeati903 – 94846FU 11
Add
BLAST
Repeati952 – 99746FU 12
Add
BLAST
Repeati999 – 104244FU 13
Add
BLAST
Repeati1046 – 108944FU 14
Add
BLAST
Repeati1090 – 1201112CSPG 1
Add
BLAST
Repeati1202 – 1310109CSPG 2
Add
BLAST
Repeati1311 – 1445135CSPG 3
Add
BLAST
Repeati1446 – 1574129CSPG 4
Add
BLAST
Repeati1575 – 1691117CSPG 5
Add
BLAST
Repeati1692 – 1821130CSPG 6
Add
BLAST
Repeati1822 – 1939118CSPG 7
Add
BLAST
Repeati1940 – 2059120CSPG 8
Add
BLAST
Repeati2060 – 2178119CSPG 9
Add
BLAST
Repeati2179 – 2293115CSPG 10
Add
BLAST
Repeati2294 – 2415122CSPG 11
Add
BLAST
Repeati2418 – 2542125CSPG 12
Add
BLAST
Domaini2543 – 2646104Calx-beta 1
Add
BLAST
Domaini2659 – 2770112Calx-beta 2
Add
BLAST
Domaini2784 – 2890107Calx-beta 3
Add
BLAST
Domaini2905 – 3007103Calx-beta 4
Add
BLAST
Domaini3025 – 3129105Calx-beta 5
Add
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.
Contains 5 Calx-beta domains.
Contains 12 CSPG (NG2) repeats.
Contains 6 VWFC domains.

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.
VSP_011287Add
BLAST
Alternative sequencei738 – 40083271Missing in isoform 4.
VSP_011288Add
BLAST
Alternative sequencei808 – 8092DC → GE in isoform 6.
VSP_011289
Alternative sequencei810 – 40083199Missing in isoform 6.
VSP_011290Add
BLAST
Alternative sequencei1953 – 197624RKNDE…SGVVI → VKTLEVGKVEPLTTIFHTIR ELSL in isoform 5.
VSP_011291Add
BLAST
Alternative sequencei1977 – 40082032Missing in isoform 5.
VSP_011292Add
BLAST
Alternative sequencei2156 – 21572QP → HV in isoform 2.
VSP_011293
Alternative sequencei2194 – 21941S → L in isoform 2.
VSP_011294
Alternative sequencei2598 – 25981S → SSSRV in isoform 2.
VSP_011295
Alternative sequencei2717 – 27182LF → SL in isoform 2.
VSP_046232
Alternative sequencei3386 – 33872LA → IS in isoform 2.
VSP_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

EnsembliENST00000264895; ENSP00000264895; ENSG00000138759. [Q86XX4-2]
ENST00000264899; 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 ENST00000264895 ; ENSP00000264895 ; ENSG00000138759 . [Q86XX4-2 ]
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

« 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: September 3, 2014
This is version 113 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

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