Seroatlas · Human Serome Atlas

FRAS1

Extracellular matrix organizing protein FRAS1

Also known as: FLJ14927, FLJ22031, FRAS1_HUMAN, KIAA1500

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q86XX4
Gene
FRAS1
Ensembl
ENSG00000138759
Chromosome
4
Canonical length
4008 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

4008 residues, UniProt reviewed canonical sequence.

>Q86XX4|FRAS1
     1  MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR CHGDIVICKP
    61  AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK IHEHGTEWAS SPCSVCSCNH
   121  GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC
   181  LCRNGVAQCF TAQCQPLFCN QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT
   241  TCICDRGEVR CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG
   301  SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV YEETGEFMSS
   361  NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP VGTLALEVKG QCCPDCTSVH
   421  CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE
   481  CSSCQPPLLM RHGQCVPTCG DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD
   541  GGCESSCGKG FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD
   601  ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG VCKACHSSCL
   661  ACMGPAPSHC TGCKKPEEGL QVEQLSDVGI PSGECLAQCR AHFYLESTGI CEACHQSCFR
   721  CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG YFHQEGSCTE CHPTCRQCHG PLESDCISCY
   781  PHISLTNGNC RTSCREEQFL NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD
   841  HCVPDCPSGY YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL
   901  DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF STNTCKECDW
   961  SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG LCKNCDSYCL QCQGPHECTR
  1021  CKGPFLLLEA QCVQECGKGY FADHAKHKCT ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV
  1081  YNCVPGFSVH TSNETCSGKI HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF
  1141  HVVSTPTNGQ LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ
  1201  FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ DVVIEIIDPP
  1261  LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS DVAVLQANDG HSFHNILFQV
  1321  KTVPQNDRGL QLVANSMVWV PEGGMLQITN RILQAEAPGA SAEEIIYKIT QDYPQFGEVV
  1381  LLVNMPADSP ADEGQHLPDG RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA
  1441  SNAQTRLESH MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK
  1501  IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL QELMAFSFAG
  1561  LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT APRLAVSPGG STSVGLQVVV
  1621  RDAETAPKEL FFELRRPPQH GVLLKHTAEF RRPMATGDTF TYEDVEKNAL QYIHDGSSTR
  1681  EDSMEISVTD GLTVTMLEVR VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD
  1741  DSSPDPEIWI QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL
  1801  VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA PLSFHHFFAT
  1861  DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL EASFPIQDVL ENYIYYFQSV
  1921  HESIEPTHDI FSFYVSDGTS RSEIHSINIT IERKNDEPPR MTLQPLRVQL SSGVVISNSS
  1981  LSLQDLDTPD NELIFVLTKK PDHGHVLWRQ TASEPLENGR VLVQGSTFTY QDILAGLVGY
  2041  VPSVPGMVVD EFQFSLTDGL HVDTGRMKIY TELPASDTPH LAINQGLQLS AGSVARITEQ
  2101  HLKVTDIDSD DHQVMYIMKE DPGAGRLQMM KHGNLEQISI KGPIRSFTQA DISQGQPEYS
  2161  HGTGEPGGSF AFKFDVVDGE GNRLIDKSFS ISISEDKSPP VITTNKGLVL DENSVKKITT
  2221  LQLSATDQDS GPTELIYRIT RQPQLGHLEH AASPGIQISS FTQADLTSRN VQYVHSSEAE
  2281  KHSDAFSFTL SDGVSEVTQT FHITLHPVDD SLPVVQNLGM RVQEGMRKTI TEFELKAVDA
  2341  DTEAESVTFT IVQPPRHGTI ERTSNGQHFH LTSTFTMKDI YQNRVSYSHD GSNSLKDRFT
  2401  FTVSDGTNPF FIIEEGGKEI MTAAPQPFRV DILPVDDGTP RIVTNLGLQW LEYMDGKATN
  2461  LITKKELLTM DPDTEDAQLV YEITTGPKHG FVENKLQPGR AAATFTQEDV NLGLIRYVLH
  2521  KEKIREMMDS FQFLVKDSKP NVVSDNVFHI QWSLISFKYT SYNVSEKAGS VSVTVQRTGN
  2581  LNQYAIVLCR TEQGTASSSS QPGQQDYVEY AGQVQFDERE DTKSCTIVIN DDDVFENVES
  2641  FTVELSMPAY ALLGEFTQAK VIINDTEDEP TLEFDKKIYW VNESAGFLFA PIERKGDASS
  2701  IVSAICYTVP KSAMGSLFYA LESGSDFKSR GMSAASRVIF GPGVTMSTCD VMLIDDSEYE
  2761  EEEEFEIALA DASDNARIGR VATAKVLISG PNDASTVSLG NTAFTVSEDA GTVKIPVIRH
  2821  GTDLSTFASV WCATRPSDPA SATPGVDYVP SSRKVEFGPG VIEQYCTLTI LDDTQYPVIE
  2881  GLETFVVFLS SAQGAELTKP FQAVIAINDT FQDVPSMQFA KDLLLVKEKE GVLHVPITRS
  2941  GDLSYESSVR CYTQSHSAQV MEDFEERQNA DSSRITFLKG DKVKNCTVYI HDDSMFEPEE
  3001  QFRVYLGLPL GNHWSGARIG KNNMATITIS NDEDAPTIEF EEAAYQVREP AGPDAIAILN
  3061  IKVIRRGDQN RTSKVRCSTR DGSAQSGVDY YPKSRVLKFS PGVDHIFFKV EILSNEDREW
  3121  HESFSLVLGP DDPVEAVLGD VTTATVTILD QEAAGSLILP APPIVVTLAD YDHVEEVTKE
  3181  GVKKSPSPGY PLVCVTPCDP HFPRYAVMKE RCSEAGINQT SVQFSWEVAA PTDGNGARSP
  3241  FETITDNTPF TSVNHMVLDS IYFSRRFHVR CVAKAVDKVG HVGTPLRSNI VTIGTDSAIC
  3301  HTPVVAGTSR GFQAQSFIAT LKYLDVKHKE HPNRIHISVQ IPHQDGMLPL ISTMPLHNLH
  3361  FLLSESIYRH QHVCSNLVTT YDLRGLAEAG FLDDVVYDST ALGPGYDRPF QFDPSVREPK
  3421  TIQLYKHLNL KSCVWTFDAY YDMTELIDVC GGSVTADFQV RDSAQSFLTV HVPLYVSYIY
  3481  VTAPRGWASL EHHTEMEFSF FYDTVLWRTG IQTDSVLSAR LQIIRIYIRE DGRLVIEFKT
  3541  HAKFRGQFVM EHHTLPEVKS FVLTPDHLGG IEFDLQLLWS AQTFDSPHQL WRATSSYNRK
  3601  DYSGEYTIYL IPCTVQPTQP WVDPGEKPLA CTAHAPERFL IPIAFQQTNR PVPVVYSLNT
  3661  EFQLCNNEKV FLMDPNTSDM SLAEMDYKGA FSKGQILYGR VLWNPEQNLN SAYKLQLEKV
  3721  YLCTGKDGYV PFFDPTGTIY NEGPQYGCIQ PNKHLKHRFL LLDRNQPEVT DKYFHDVPFE
  3781  AHFASELPDF HVVSNMPGVD GFTLKVDALY KVEAGHQWYL QVIYIIGPDT ISGPRVQRSL
  3841  TAPLRRNRRD LVEPDGQLIL DDSLIYDNEG DQVKNGTNMK SLNLEMQELA VAASLSQTGA
  3901  SIGSALAAIM LLLLVFLVAC FINRKCQKQR KKKPAEDILE EYPLNTKVEV PKRHPDRVEK
  3961  NVNRHYCTVR NVNILSEPEA AYTFKGAKVK RLNLEVRVHN NLQDGTEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FRAS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • thyroid gland: 11 nTPM
  • kidney: 6.9 nTPM
  • placenta: 5.4 nTPM
  • pancreas: 5.1 nTPM
  • colon: 3.2 nTPM
  • lung: 3.2 nTPM

Single-cell type

  • pituitary stem cells: 1,736 nCPM
  • renal connecting tubule cells: 1,338 nCPM
  • proximal tubule cells: 871 nCPM
  • distal convoluted tubule cells: 790 nCPM
  • renal collecting duct principal cells: 654 nCPM
  • mesothelial cells: 557 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • thalamus: 37 nTPM
  • cerebral cortex: 26 nTPM
  • white matter: 19 nTPM
  • choroid plexus: 17 nTPM
  • basal ganglia: 16 nTPM
  • pons: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FRAS1.

Disease | AllUniProt

Conditions FRAS1 is implicated in, by any mechanism.

Disease | GeneticClinVar

317 pathogenic / likely-pathogenic of 3,616 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.66
gnomAD pLI
0
gnomAD missense Z
0.08
DepMap mean gene effect
0.12
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FRAS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FRAS1 as an antibody target. Whether an autoantibody or antibody against FRAS1 could matter depends on whether native FRAS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FRAS1 is annotated at the cell surface, where native FRAS1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label FRAS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FRAS1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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