KEGG   Homo sapiens (human): 158326
Entry
158326            CDS       T01001                                 
Symbol
FREM1, BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2
Name
(RefSeq) FRAS1 related extracellular matrix 1
  KO
K23380  FRAS1-related extracelluar matrix protein 1/2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04512  ECM-receptor interaction
Disease
H00685  Bifid nose with or without anorectal and renal anomalies
H00686  Manitoba oculotrichoanal syndrome
H01207  Trigonocephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    158326 (FREM1)
SSDB
Motif
Pfam: Cadherin_3 Frem_N Big_9 Lectin_C Calx-beta
Other DBs
NCBI-GeneID: 158326
NCBI-ProteinID: NP_659403
OMIM: 608944
HGNC: 23399
Ensembl: ENSG00000164946
UniProt: Q5H8C1
Position
9:complement(14737152..14910995)
AA seq 2179 aa
MNSLSWGAANAVLLLLLLAWASPTFISINRGVRVMKGHSAFLSGDDLKFAIPKEKDACKV
EVVMNEPITQRVGKLTPQVFDCHFLPNEVKYVHNGCPILDEDTVKLRLYRFTERDTFIET
FILWVYLLEPDCNIIHMSNNVLEVPEFNGLSQAIDKNLLRFDYDRMASLECTVSLDTART
RLPAHGQMVLGEPRPEEPRGDQPHSFFPESQLRAKLKCPGGSCTPGLKKIGSLKVSCEEF
LLMGLRYQHLDPPSPNIDYISIQLDLTDTRSKIVYKSESAWLPVYIRAGIPNQIPKAAFM
AVFILEVDQFILTSLTTSVLDCEEDETPKPLLVFNITKAPLQGYVTHLLDHTRPISSFTW
KDLSDMQIAYQPPNSSHSERRHDEVELEVYDFFFERSAPMTVHISIRTADTNAPRVSWNT
GLSLLEGQSRAITWEQFQVVDNDDIGAVRLVTVGGLQHGWLTLRGGKGFLFTVADLQAGV
VRYHHDDSDSTKDFVVFRIFDGHHSIRHKFPINVLPKDDSPPFLITNVVIELEEGQTILI
QGSMLRASDVDASDDYIFFNITKPPQAGEIMKKPGPGLIGYPVHGFLQRDLFNGIIYYRH
FGGEIFEDSFQFVLWDSHEPPNLSVPQVATIHITPVDDQLPKEAPGVSRHLVVKETEVAY
ITKKQLHFIDSESYDRELVYTITTPPFFSFSHRHLDAGKLFMVDSIPKVVKNPTALELRS
FTQHAVNYMKVAYMPPMQDIGPHCRDVQFTFSVSNQHGGTLHGICFNITILPVDNQVPEA
FTNPLKVTEGGQSIISTEHILISDADTKLDNIDLSLRELPLHGRVELNGFPLNSGGTFSW
GDLHTLKVRYQHDGTEVLQDDLLLEVTDGTNSAEFVLHVEVFPVNDEPPVLKADLMPVMN
CSEGGEVVITSEYIFATDVDSDNLKLMFVIAREPQHGVVRRAGVTVDQFSQRDVISEAVT
YKHTGGEIGLMPCFDTITLVVSDGEAGPFVNGCCYNGPNPSVPLHASFPVYDLNITVYPV
DNQPPSIAIGPVFVVDEGCSTALTVNHLSATDPDTAADDLEFVLVSPPQFGYLENILPSV
GFEKSNIGISIDSFQWKDMNAFHINYVQSRHLRIEPTADQFTVYVTDGKHHSLEIPFSII
INPTNDEAPDFVVQNITVCEGQMKELDSSIISAVDLDIPQDALLFSITQKPRHGLLIDRG
FSKDFSENKQPANPHQKHAPVHSFSMELLKTGMRLTYMHDDSESLADDFTIQLSDGKHKI
LKTISVEVIPVNDEKPMLSKKAEIAMNMGETRIISSAILSAIDEDSPREKIYYVFERLPQ
NGQLQLKIGRDWVPLSPGMKCTQEEVDLNLLRYTHTGAMDSQNQDSFTFYLWDGNNRSPA
LDCQITIKDMEKGDIVILTKPLVVSKGDRGFLTTTTLLAVDGTDKPEELLYVITSPPRYG
QIEYVHYPGVPITNFSQMDVVGQTVCYVHKSKVTVSSDRFRFIISNGLRTEHGVFEITLE
TVDRALPVVTRNKGLRLAQGAVGLLSPDLLQLTDPDTPAENLTFLLVQLPQHGQLYLWGT
GLLQHNFTQQDVDSKNVAYRHSGGDSQTDCFTFMATDGTNQGFIVNGRVWEEPVLFTIQV
DQLDKTAPRITLLHSPSQVGLLKNGCYGIYITSRVLKASDPDTEDDQIIFKILQGPKHGH
LENTTTGEFIHEKFSQKDLNSKTILYIINPSLEVNSDTVEFQIMDPTGNSATPQILELKW
SHIEWSQTEYEVCENVGLLPLEIIRRGYSMDSAFVGIKVNQVSAAVGKDFTVIPSKLIQF
DPGMSTKMWNIAITYDGLEEDDEVFEVILNSPVNAVLGTKTKAAVKILDSKGGQCHPSYS
SNQSKHSTWEKGIWHLLPPGSSSSTTSGSFHLERRPLPSSMQLAVIRGDTLRGFDSTDLS
QRKLRTRGNGKTVRPSSVYRNGTDIIYNYHGIVSLKLEDDSFPTHKRKAKVSIISQPQKT
IKVAELPQADKVESTTDSHFPRQDQLPSFPKNCTLELKGLFHFEEGIQKLYQCNGIAWKA
WSPQTKDVEDKSCPAGWHQHSGYCHILITEQKGTWNAAAQACREQYLGNLVTVFSRQHMR
WLWDIGGRKSFWIGLNDQVHAGHWEWIGGEPVAFTNGRRGPSQRSKLGKSCVLVQRQGKW
QTKDCRRAKPHNYVCSRKL
NT seq 6540 nt   +upstreamnt  +downstreamnt
atgaactctctgagttggggggctgcgaatgccgtgctgctgctgctcctcctggcctgg
gccagccccaccttcatcagcatcaaccgcggggtgagggtgatgaagggccactctgcc
ttcctgtcaggagatgacctgaagtttgccatccctaaagagaaagatgcctgcaaagtg
gaagttgtgatgaatgagccaataacccagagggttgggaaactcactccacaggtcttt
gactgccatttccttcccaacgaagtcaagtatgttcacaatggttgtccaattcttgat
gaagacacagtgaagctcagactttacagatttactgaaagagataccttcatagaaact
tttatcctgtgggtctatctcctggaaccagactgtaacatcatccatatgagtaacaat
gtgctggaggtgcctgaattcaatggcttgtcccaagcgattgataaaaatctgctcaga
ttcgattatgataggatggctagcctggaatgtaccgtcagcctggacactgcgagaact
cggctgccagcccatggccagatggttctcggggagcctcgaccagaagaacctcgtgga
gatcagccacacagttttttcccagagtcccaactgagagcaaaactgaagtgtccaggt
gggagctgtaccccaggattaaagaaaataggaagcctcaaagtgagctgtgaggagttc
ctgctgatgggccttcgttatcagcatctggatcccccttcacccaacattgattatatc
tccatccaactggacctcacagataccaggagcaaaattgtgtacaagtcagagagtgcg
tggctgcctgtctatatcagagctggaattccgaatcagattccaaaggctgcattcatg
gccgtgtttattctggaagtggatcagttcatcctgacctccttgactacatcagttctg
gactgtgaagaagatgagacccctaaacccttgctggtgttcaacattactaaagccccg
ctccagggctatgtgactcacctgttggatcacaccagaccaatctcctcattcacctgg
aaagatctcagtgacatgcagatcgcctatcagccaccaaacagcagccattctgagagg
agacatgatgaggtagaattggaggtatacgacttcttctttgaaaggagtgcacctatg
acagtccacatctccatcagaacagcagatacaaatgccccccgtgtatcctggaataca
ggtctgagtctccttgaggggcagtctcgagccatcacttgggaacagtttcaggttgtc
gacaatgacgacattggtgctgtccggctagtcaccgttggtggcctgcagcatggatgg
ctgactttaagaggggggaaagggtttctcttcaccgtggctgacctccaggctggagtt
gttcgctatcatcatgatgacagcgactccaccaaagacttcgtggtcttccggatattt
gatggccatcacagcatccgtcacaaattccccatcaacgtcttgcccaaagatgatagt
cccccgttcctcataaccaatgttgtgattgaactggaggaggggcagaccatcctgatc
cagggatccatgctgcgagcttcagatgtggacgccagtgatgactacatcttcttcaat
atcacaaagcctccacaggctggggagatcatgaagaagccagggccaggactgataggc
tatcctgtccatggcttccttcagagggatttgtttaatggaatcatttattatcgtcat
tttggtggagaaatctttgaagattcttttcaatttgtcctgtgggacagccatgaacct
ccaaatctttcagtgccacaggtggcaacaatccatataactccagtggatgaccagctt
ccaaaagaggctcctggagtttctcggcatttggttgtcaaggaaactgaggtggcctat
ataactaagaaacagctacattttatagattcagaatcatatgacagggagctggtctac
acaataactactcctccatttttctccttcagccacagacacttggatgctgggaaatta
tttatggtggacagcataccaaaagtagttaagaatcctacggccctggagctgaggtca
ttcactcagcatgctgtgaactatatgaaagtggcctacatgccccccatgcaagacatt
ggtccccattgcagagatgtccagttcacattttctgtcagtaaccaacatggcggtact
ttgcatgggatctgctttaacattacaatcctcccagtggacaatcaagttcctgaggcg
ttcaccaaccctctgaaagtgactgagggaggtcaaagcatcatcagcacagagcacatt
ctaatttctgatgcagataccaagctggacaatattgacctctccctgcgggaattgcct
ctgcacggaagggtggagctgaatggatttcctctaaattcagggggcacattttcttgg
ggcgatctccataccttaaaagttaggtatcaacatgatggaactgaagttcttcaggat
gacctactcttggaggtcaccgatggcacaaattcagcagaatttgtactacatgttgag
gtattccctgtcaacgatgagccaccagtcttaaaggctgacctcatgcctgtcatgaat
tgctcagagggaggagaggtggtcatcacctctgaatacatttttgctactgatgtggac
agcgataacttgaagttgatgtttgtgattgctcgcgaacctcagcatggggtggtgagg
agagctggagtcacagtggatcagttctctcagagagatgttatctcagaggccgtgaca
tacaaacacacaggtggcgagattggcctgatgccttgttttgacaccattacattggtg
gtttcggatggagaggctggcccttttgtgaatggctgttgctacaatggacccaatcca
tctgttccacttcatgcgtcctttccagtgtatgatctcaacatcacggtatacccagta
gacaaccagccaccttccattgcaataggtcccgtgtttgttgtagatgagggctgctca
acagcccttactgttaaccatttgtccgccactgaccctgacactgcagcagatgacttg
gaatttgttttggtttctcctcctcagtttggctacctcgaaaatatactcccttctgtg
ggttttgaaaaaagcaatattggcataagtatagattcatttcagtggaaagacatgaac
gcttttcacattaactatgtgcagtccaggcatctgaggatagaaccaactgccgaccag
ttcacggtgtacgtcacagatgggaagcatcactccttggagataccattttctattata
atcaaccccacaaatgatgaagctcctgactttgtagtgcagaatattactgtgtgtgag
ggtcagatgaaagagctggactcttccatcatcagcgctgtggacctggacattccccag
gatgccctgctgttcagcatcactcaaaagccacgccatggcctcctcatcgataggggg
tttagcaaagacttctctgagaataagcagccagccaaccctcaccagaaacatgcacct
gttcacagcttttccatggaactcctcaagactggaatgaggttgacgtacatgcatgat
gactcagagagccttgctgatgattttacaatccaattgtcagatgggaaacataagata
cttaaaaccatttcagtagaggtcatcccagttaatgatgaaaaaccaatgctgagcaag
aaggctgaaattgcaatgaatatgggtgaaactcgtattatttccagtgctattctttca
gccatagatgaagactcacccagggagaagatttactatgtatttgaaaggcttccccaa
aatgggcaacttcagcttaagatagggagggactgggttcctctctcccctggcatgaaa
tgcactcaggaggaagtggatctgaacttgctgagatacacacacaccggggcaatggat
tcccagaatcaagatagcttcaccttctacctttgggatggcaacaacaggtcccctgct
cttgactgtcaaatcaccatcaaggacatggaaaaaggtgatattgtcatccttacaaaa
ccactcgtggtgtctaaaggtgatagaggtttcttaacaaccaccacgctcctggctgtg
gacggaacagacaagcctgaggaactgctctatgtcatcacctcccctccgcgatatggc
cagatcgaatatgttcactatcctggagttcccattacaaacttcagccaaatggatgta
gtggggcagacagtttgctatgtacacaagagcaaggtgactgtctccagtgacagattc
agattcatcatcagcaatggactgcggaccgagcacggggtgtttgagatcacactggag
actgtggacagagccctgcctgtggtaaccaggaacaaggggttgagactggcccaaggg
gccgtgggcctgctttcccctgacctccttcagctgaccgaccctgatacacctgcggag
aacctcaccttcctcttggttcagctcccccagcatggccagctctacctgtgggggaca
gggctacttcaacacaatttcacccagcaggatgtggacagcaagaatgtggcctatcgg
cactcaggaggggactcccagactgactgctttactttcatggccacagatgggacaaac
caaggctttattgtgaatgggagagtgtgggaagaacctgttttattcaccattcaggta
gaccaattggacaaaacagctcctcgtatcacactcttgcattccccttctcaagtgggg
ctcctgaaaaatggctgctacgggatttacatcacttcccgcgtgttgaaggcatcagac
cctgacactgaggacgatcagatcatctttaaaattctacaaggcccaaaacatggacat
ctggagaacacaacaacaggtgaatttatccatgagaaatttagccaaaaggacttaaac
agtaagactattctttacatcataaacccatctttggaagtaaattcagataccgtggaa
tttcaaatcatggaccccacagggaactcggccactcctcaaattttggaactgaagtgg
tctcatattgaatggtcacagaccgaatatgaagtctgtgagaatgtgggtttgttgccc
ttggaaattatcagaaggggatattccatggactcggcctttgtgggtataaaggtcaac
caagtgtcagctgcagttggaaaagatttcaccgtgattccatctaaactgattcagttt
gacccaggaatgtcaactaagatgtggaatatagcaattacctatgacggattagaggaa
gatgatgaggtctttgaagtaattctgaactcccctgtgaatgcagttcttggcacaaag
acaaaagctgcagtgaaaattttggactcaaaaggaggacaatgccatccttcatattcc
tccaaccaaagcaagcacagcacatgggagaagggcatttggcatctgctgcccccaggg
tcttcctcatccaccacttctggttcctttcatctggaaagaagacctcttccatcttcc
atgcagctagcagtcatcaggggagacaccctgcggggctttgattctacagatctttct
caaaggaagcttaggacccgtgggaatggcaaaacagttcgtccatcctctgtttataga
aatggaacagacatcatctataattatcatgggatagtttccttgaaactggaggatgac
agtttcccaactcacaaaaggaaggccaaagtatccatcattagtcagccacaaaagaca
atcaaagtggcagaactgcctcaagcagataaggtggaatccacaactgactcacacttc
cccagacaggaccagttgccctcatttccaaagaactgcactctggaattaaagggactc
ttccattttgaagaaggcatccagaagctgtatcagtgcaatgggatcgcctggaaagcc
tggagtccccaaaccaaggatgtggaagacaaatcctgtccagccgggtggcaccagcac
tcaggctactgtcacatcttgatcacagagcagaaaggcacctggaatgcggctgcccaa
gcttgcagggaacaatacctgggcaaccttgtaactgtattctccaggcagcacatgcgg
tggctctgggacattggtgggagaaagtccttttggataggtttgaacgaccaagtgcat
gctggccactgggagtggatcggtggtgaacctgttgccttcaccaatgggagaagaggg
ccctctcaacgctccaagcttggaaagagctgtgttttggttcaaagacaagggaaatgg
caaacaaaagactgtaggagagccaaacctcataattatgtgtgttccagaaaactctaa

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (71)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (69)   
DNA sequence (92)   
   RefSeq(nuc) (74)   
   GenBank (9)   
   EMBL (9)   
Protein domain (5)   
   Pfam (5)   
All databases (193)   

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