KEGG   Homo sapiens (human): 54914
Entry
54914             CDS       T01001                                 
Symbol
FOCAD, KIAA1797, SCOLIV
Name
(RefSeq) focadhesin
  KO
K27498  focadhesin
Organism
hsa  Homo sapiens (human)
Disease
H02730  Severe congenital liver disease
SSDB
Motif
Pfam: Focadhesin DUF3730 HEAT
Other DBs
NCBI-GeneID: 54914
NCBI-ProteinID: NP_060264
OMIM: 614606
HGNC: 23377
Ensembl: ENSG00000188352
UniProt: Q5VW36 B3KNV9
Position
9:20655625..20995950
AA seq 1801 aa
MSDDIRKRFEFPNSLIQSQAVGHLIAAVLKENGFSEKIHQSTNQTPALNLLWEKCCSDNV
VVRTACCEGLVALVAQDHAEFSYVLNGILNLIPSTRNTHGLIKAIMHLLQMQALKEGQGG
EKNIQSIYTIRNHPHPLITVLEHRPDCWPVFLQQLTAFFQQCPERLEVSCIQIMAPFLWY
LYCEPSQLQEYAKLRLALLKVLLQPQVLCDKDQPSILEQQILQLCCDIVPCLQVKDLIQT
TEAMMFIEEVCLSLLRHPVFWKIQLTQMSLQLLCVSEVSLKITGECSSSIHLLEHSVELL
KEDFPVELVIIGIALLLLQTPASQQKPILNLALKLLSVTEDQKIPKSSLLLVMPILQILS
STALEDCISVDEEGPSRQQLALNLLEMIQQECYRDDHQKLSYKLVCPVTSMYGTIFTAWR
ILEVMTDSSAASDWLASVESLLPITAVIPAPAFLLLAHLLVEDKGQNLHQILKVTTELAQ
ADSSQVPNLIPVLMFKLGRPLEPILYNDILYTLPKLGVHKVCIGQILRIIQLLGTTPRLR
AVTLRLLTSLWEKQDRVYPELQRFMAVSDVPSLSVGKEVQWEKLIAKAASIRDICKQRPY
QHGADMLAAISQVLNECTKPDQATPAALVLQGLHALCQAEVVCIRSTWNALSPKLSCDTR
PLILKTLSELFSLVPSLTVNTTEYENFKVQVLSFLWTHTQNKDPIVANAAYRSLANFSAG
EHTILHLPEKIRPEIPIPEELDDDEDVEDVDLSVPGSCYLKLLSLTPPLVLPALEEFFTS
LVKQEMVNMPRGIYHSALKGGARSDQGKTVAGIPNFILKMYETNKQPGLKPGLAGGMLFC
YDVSMYQSKDGKPLNRLMASRGRSFKQTSLALVHEVHIQLSEWHRAIFLPQAWLAYMNRA
YHAILQGRLGELELQLKHGKEEPEEVQYKKSTAWLWVRDMLTDEITKAAAKESPVVKGNA
LLALSSLAVVVSRHEASLSSDSDGLLEVQPNFLSMKEWVSMVLDTLLVIVDSHYQPRGQL
LSWFYYKSYSGENTASAIARSAAATALSLLVPVFIISCKEKVEEILNMLTARLPGKPSAD
ESQAVQIHMGLALGMFLSRLCEEKLSDISGQEMNLLLMKSLDALENCCFDTSLEYNTGCI
LGVGLVLSLMSHSSQMQSRVHVAALLRKLSAHVDDSGSQSRTFQEVLAYTLSCVCTSAFS
AGIIEATEAEDVMNKLRLLVENSQQTSGFALALGNIVHGLSVCGHGKAEDLGSKLLPAWI
RIVLTEGTPTMLCLAALHGMVALVGSEGDVMQLKSEAIQTSHFQGRLNEVIRTLTQVISV
SGVIGLQSNAVWLLGHLHLSTLSSSQSRASVPTDYSYLPESSFIGAAIGFFITGGKKGPE
SVPPSLLKVVMKPIATVGESYQYPPVNWAALLSPLMRLNFGEEIQQLCLEIMVTQAQSSQ
NAAALLGLWVTPPLIHSLSLNTKRYLLISAPLWIKHISDEQILGFVENLMVAVFKAASPL
GSPELCPSALHGLSQAMKLPSPAHHLWSLLSEATGKIFDLLPNKIRRKDLELYISIAKCL
LEMTDDDANRIAQVTKSNIEKAAFVKLYLVSQGRFPLVNLTDMLSVAVQHREKEVLAWMI
LHSLYQARIVSHANTGVLKRMEWLLELMGYIRNVAYQSTSFHNTALDKALDFFLLIFATA
VVAWADHTAPLLLGLSASWLPWHQENGPAGPVPSFLGRSPMHRVTLQEVLTLLPNSMALL
LQKEPWKEQTQKFIDWLFSIMESPKEALSAQSRDLLKATLLSLRVLPEFKKKAVWTRAYG
W
NT seq 5406 nt   +upstreamnt  +downstreamnt
atgtcagatgatatcaggaaaaggtttgaatttccaaattctcttatccaatcacaggct
gtgggtcatcttattgctgcagtcctaaaggaaaatggtttttcagaaaagattcaccaa
tctacaaatcagactcctgctttgaacttgctgtgggagaagtgttgcagtgacaatgta
gtggttcgaacagcctgctgtgaaggtctggtggcactcgttgctcaggatcatgcagag
ttcagctatgttctcaatgggatactcaacttgattccatcaaccagaaatacacatggc
ttgataaaagccattatgcacttactacaaatgcaagctcttaaggaaggacaaggtggg
gaaaagaatattcagagtatatataccattagaaatcatcctcatcctttgataactgtg
cttgaacacagacctgattgctggccagtgtttttgcagcagctgacagcgtttttccag
cagtgccctgaaaggttagaagtttcatgcattcaaataatggcaccatttctgtggtat
ctgtattgtgaaccatctcagttacaagaatatgctaaactccgactagccctgctgaaa
gtcttacttcaaccccaggttctttgtgacaaagatcaaccatcaatactggaacagcag
atacttcaactgtgttgtgacatagttccatgtttgcaggtaaaagatttgatacagaca
acagaggcgatgatgtttattgaggaagtatgtttaagccttttgcgtcatcctgttttc
tggaaaattcagcttacccagatgagtcttcagctgctgtgtgtcagtgaagtcagctta
aagataactggtgaatgttcatcttcaattcaccttttagagcacagtgttgaacttctg
aaggaggattttcctgttgaactggtcataattggaatagctttactacttctacagact
ccagcaagtcagcagaagccaatcttaaatctagctttgaagctcctctctgttactgag
gatcagaaaatcccaaagtcctctctgctgctagtgatgccaattctgcagatactatct
tctactgccttggaagactgtatatctgtggatgaagaaggtccctctaggcagcagttg
gctctaaaccttttggaaatgatacagcaggaatgttacagagatgaccaccaaaagctc
tcctacaagcttgtgtgccctgtaaccagtatgtatggtacaatatttacagcctggagg
attcttgaagtaatgacagactcgtctgctgcaagtgactggttggcttcagtagagtca
ttgcttcctattactgctgtgatccctgcgcctgcctttcttctgctggctcacctcctt
gttgaagacaaaggacaaaatcttcaccaaatactcaaggtcactacagaattagcccaa
gcagattcctcccaggtgccaaatctgattccagttttgatgttcaaattgggaagacca
ctggaacctatattatataatgatatattgtatactttacctaagcttggtgttcacaag
gtgtgtataggacaaattctacgaataatacaactacttggaaccacaccacgactaaga
gctgtcactttgcgcttgctgacatctttgtgggaaaagcaggaccgagtctatcctgaa
ctgcagcgtttcatggctgtgtctgatgtaccttctctttcggtgggcaaggaagtccaa
tgggagaaactgattgcaaaagcagcatcaatcagagatatatgtaagcagaggccatat
caacatggtgcagatatgttggcagctatttctcaagtgttgaatgaatgcaccaagcct
gatcaagctactccagcagccttggtattacagggtcttcatgcactctgtcaagctgag
gttgtttgcattcgctccacttggaatgctctctctccaaagctgagttgtgacacaaga
cctctcattctgaagacactgagtgaactattttctctagttccttccttaacggtcaat
acaactgaatatgagaattttaaagttcaagtcctcagcttcctctggactcatactcaa
aacaaggacccaattgtagcaaatgctgcatatagatccctggccaactttagtgcagga
gaacacaccattcttcatctgcctgaaaagataagaccagaaattcccattcctgaagag
ttagatgacgatgaagatgttgaggatgtggatctttcagttcctggctcttgctatctc
aaactgttgtcactcactccccctttggttttaccagctttggaggaattttttacatca
cttgtgaagcaagaaatggtgaatatgcctcgtgggatatatcactctgcattaaaagga
ggtgcccgctcagaccaaggaaagactgtagcaggaatccccaattttatattgaaaatg
tatgaaacaaacaagcaaccaggactgaaacctggccttgcaggtggtatgttattttgc
tatgatgtttccatgtatcagagtaaagatggaaaaccattgaacagactgatggccagc
agagggcgaagtttcaagcagacttcacttgctcttgtacatgaggttcatatccagctt
tcagagtggcaccgtgcaatttttcttccacaggcctggcttgcatacatgaatcgagct
tatcatgccattttacagggaagactaggagagctggagttgcagttaaaacatggaaaa
gaagaacctgaggaggtgcagtacaaaaaaagcacagcctggctctgggttagagacatg
ctgactgatgagatcaccaaggcagctgcaaaggagagtccggtagtgaaaggcaatgcg
ctgttagctctaagcagccttgctgtcgtcgtatctagacatgaagccagcctctcctca
gactctgacgggctcctggaggttcaacctaatttcctttcaatgaaagagtgggtttcc
atggtacttgatacactcttggtcattgtggatagccattaccaacccagagggcaactt
ctctcctggttttattataagtcctattctggtgaaaacacagctagtgccattgcccgt
tctgctgccgccacggctttgtctctccttgtgccagttttcattatctcttgcaaagag
aaggttgaggaaatcctgaacatgctgactgccaggttacctgggaaaccaagtgctgat
gagtctcaagccgtgcaaatccacatgggccttgctttagggatgtttctctctcgcttg
tgtgaagagaaactcagtgatatatctggccaagagatgaaccttcttctgatgaagtcg
ttggatgccctggaaaattgctgctttgacactagtcttgaatacaacacgggctgtata
ttgggagttggacttgttctgtccctcatgagccacagcagccaaatgcagtcccgcgtt
cacgtagcagcattgctccggaagctgtctgcgcacgtagatgacagcgggagccagagc
agaacgtttcaggaggtccttgcctacacacttagctgtgtatgtacatcagcgttcagt
gctggaattattgaggctacagaggctgaggatgttatgaacaagcttcgactgttagtg
gagaatagccagcagacttcaggttttgccctggctttaggaaacatagttcatggattg
tctgtgtgtggacatggaaaagctgaagacttgggcagcaaactactccctgcctggatc
agaattgttctaacagagggcactcccacaatgctttgtctggcagctcttcatggcatg
gtggccttggtaggctctgaaggggatgtaatgcagctgaaatcagaagccatccagacc
tctcattttcaaggcagacttaatgaagtcattagaaccttaactcaggtcattagtgtc
tctggggtgattggtctccagtcaaatgcagtctggcttcttggacatcttcatctatct
actctatcctcaagtcaaagtagagcctctgttcctactgactatagctacttgcctgaa
agcagttttattggagcagctattggcttcttcattacaggaggaaaaaaaggtcctgaa
tctgtgcctccttcccttcttaaagtagtgatgaaacccatagcaactgttggagaaagc
taccaatatcctcctgtgaactgggctgcacttctctctccacttatgaggctaaatttt
ggtgaagagatccagcaactgtgccttgaaattatggtgacccaggcacagtcatcccag
aatgcagctgcactattgggcttgtgggtgacaccaccactgatccacagtctgagtctg
aataccaagagatatctcctgatatctgcacctctgtggataaaacacatctctgatgaa
cagatcctgggttttgttgaaaatttaatggtggcagtttttaaagcagcttccccactt
ggaagtcctgagctatgcccaagtgctttacacggtctgagccaggccatgaaactgccc
agccctgcccaccacctctggagtctgctctctgaagctactgggaaaatttttgacctc
ctgccaaataagattcggagaaaggatctagagctgtatatcagcatagcaaaatgcctc
ttagaaatgacagatgatgatgccaatcggatcgcccaggttactaagagcaacatagaa
aaagctgcctttgtcaaactgtacttagtctctcaaggacgattccccttggtgaacctg
accgatatgctgagcgttgctgtgcagcaccgtgagaaagaggtgttggcctggatgatt
ctgcacagcttataccaggcacggattgtgagccatgccaatacgggcgttttgaagaga
atggagtggctcttggaactgatgggttatattagaaatgttgcttaccagtcaacatcc
tttcacaatacggctcttgacaaggctttggacttcttcttgctgatatttgcaaccgca
gtggttgcatgggctgaccacactgcccctctcctcctcggcctcagtgccagttggttg
ccatggcatcaggagaatggcccggctgggccagtaccaagcttccttggcaggagtcca
atgcacagggtcactctgcaggaggttctcactctccttcccaatagcatggctctgctg
ctgcagaaagagccatggaaggaacagacccagaagttcattgactggctattcagcatc
atggaaagccctaaagaagccctctcagcacagtccagggatcttttgaaagccaccctg
ctgtccttgagagttctcccagagtttaagaagaaagctgtatggaccagagcatatggt
tggtga

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