• Gene id: 158326

Gene Summary

• Gene Symbol: FREM1   Gene   UCSC   Ensembl
• Aliases: BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2
• Gene name: FRAS1 related extracellular matrix 1
• Alternate names: FRAS1-related extracellular matrix protein 1, extracellular matrix protein QBRICK,
• Gene location: 9p22.3 (14911652: 14733485)     Exons: 48     NC_000009.12
• Gene summary(Entrez): This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants
• OMIM: 605602

Protein Summary

• Protein general information: Q5H8C1  
  • Name: FRAS1 related extracellular matrix protein 1 (Protein QBRICK)
  • Length: 2179  
  • Mass: 244154
• Sequence:

  MNSLSWGAANAVLLLLLLAWASPTFISINRGVRVMKGHSAFLSGDDLKFAIPKEKDACKVEVVMNEPITQRVGKL
  TPQVFDCHFLPNEVKYVHNGCPILDEDTVKLRLYRFTERDTFIETFILWVYLLEPDCNIIHMSNNVLEVPEFNGL
  SQAIDKNLLRFDYDRMASLECTVSLDTARTRLPAHGQMVLGEPRPEEPRGDQPHSFFPESQLRAKLKCPGGSCTP
  GLKKIGSLKVSCEEFLLMGLRYQHLDPPSPNIDYISIQLDLTDTRSKIVYKSESAWLPVYIRAGIPNQIPKAAFM
  AVFILEVDQFILTSLTTSVLDCEEDETPKPLLVFNITKAPLQGYVTHLLDHTRPISSFTWKDLSDMQIAYQPPNS
  SHSERRHDEVELEVYDFFFERSAPMTVHISIRTADTNAPRVSWNTGLSLLEGQSRAITWEQFQVVDNDDIGAVRL
  VTVGGLQHGWLTLRGGKGFLFTVADLQAGVVRYHHDDSDSTKDFVVFRIFDGHHSIRHKFPINVLPKDDSPPFLI
  TNVVIELEEGQTILIQGSMLRASDVDASDDYIFFNITKPPQAGEIMKKPGPGLIGYPVHGFLQRDLFNGIIYYRH
  FGGEIFEDSFQFVLWDSHEPPNLSVPQVATIHITPVDDQLPKEAPGVSRHLVVKETEVAYITKKQLHFIDSESYD
  RELVYTITTPPFFSFSHRHLDAGKLFMVDSIPKVVKNPTALELRSFTQHAVNYMKVAYMPPMQDIGPHCRDVQFT
  FSVSNQHGGTLHGICFNITILPVDNQVPEAFTNPLKVTEGGQSIISTEHILISDADTKLDNIDLSLRELPLHGRV
  ELNGFPLNSGGTFSWGDLHTLKVRYQHDGTEVLQDDLLLEVTDGTNSAEFVLHVEVFPVNDEPPVLKADLMPVMN
  CSEGGEVVITSEYIFATDVDSDNLKLMFVIAREPQHGVVRRAGVTVDQFSQRDVISEAVTYKHTGGEIGLMPCFD
  TITLVVSDGEAGPFVNGCCYNGPNPSVPLHASFPVYDLNITVYPVDNQPPSIAIGPVFVVDEGCSTALTVNHLSA
  TDPDTAADDLEFVLVSPPQFGYLENILPSVGFEKSNIGISIDSFQWKDMNAFHINYVQSRHLRIEPTADQFTVYV
  TDGKHHSLEIPFSIIINPTNDEAPDFVVQNITVCEGQMKELDSSIISAVDLDIPQDALLFSITQKPRHGLLIDRG
  FSKDFSENKQPANPHQKHAPVHSFSMELLKTGMRLTYMHDDSESLADDFTIQLSDGKHKILKTISVEVIPVNDEK
  PMLSKKAEIAMNMGETRIISSAILSAIDEDSPREKIYYVFERLPQNGQLQLKIGRDWVPLSPGMKCTQEEVDLNL
  LRYTHTGAMDSQNQDSFTFYLWDGNNRSPALDCQITIKDMEKGDIVILTKPLVVSKGDRGFLTTTTLLAVDGTDK
  PEELLYVITSPPRYGQIEYVHYPGVPITNFSQMDVVGQTVCYVHKSKVTVSSDRFRFIISNGLRTEHGVFEITLE
  TVDRALPVVTRNKGLRLAQGAVGLLSPDLLQLTDPDTPAENLTFLLVQLPQHGQLYLWGTGLLQHNFTQQDVDSK
  NVAYRHSGGDSQTDCFTFMATDGTNQGFIVNGRVWEEPVLFTIQVDQLDKTAPRITLLHSPSQVGLLKNGCYGIY
  ITSRVLKASDPDTEDDQIIFKILQGPKHGHLENTTTGEFIHEKFSQKDLNSKTILYIINPSLEVNSDTVEFQIMD
  PTGNSATPQILELKWSHIEWSQTEYEVCENVGLLPLEIIRRGYSMDSAFVGIKVNQVSAAVGKDFTVIPSKLIQF
  DPGMSTKMWNIAITYDGLEEDDEVFEVILNSPVNAVLGTKTKAAVKILDSKGGQCHPSYSSNQSKHSTWEKGIWH
  LLPPGSSSSTTSGSFHLERRPLPSSMQLAVIRGDTLRGFDSTDLSQRKLRTRGNGKTVRPSSVYRNGTDIIYNYH
  GIVSLKLEDDSFPTHKRKAKVSIISQPQKTIKVAELPQADKVESTTDSHFPRQDQLPSFPKNCTLELKGLFHFEE
  GIQKLYQCNGIAWKAWSPQTKDVEDKSCPAGWHQHSGYCHILITEQKGTWNAAAQACREQYLGNLVTVFSRQHMR
  WLWDIGGRKSFWIGLNDQVHAGHWEWIGGEPVAFTNGRRGPSQRSKLGKSCVLVQRQGKWQTKDCRRAKPHNYVC
  SRKL

• Structural information:
  • Protein Domains: (1731..183-)
    (/note="Calx-beta-)
    (2060..217-)
    (/note="C-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00040"-)
  • Interpro: IPR001304  IPR016186  IPR038081  IPR003644  IPR039005   IPR016187  
  • Prosite: PS50041 PS51854
  • STRING: ENSP00000412940
• Other Databases: GeneCards:  FREM1  Malacards:  FREM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097094	craniofacial suture morphogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007154	cell communication	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007160	cell-matrix adhesion	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04512	ECM-receptor interaction

Diseases

Associated diseases	References
Bifid nose with or without anorectal and renal anomalies	KEGG:H00685
Manitoba oculotrichoanal syndrome	KEGG:H00686
Trigonocephaly	KEGG:H01207
Bifid nose with or without anorectal and renal anomalies	KEGG:H00685
Manitoba oculotrichoanal syndrome	KEGG:H00686
Trigonocephaly	KEGG:H01207
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R