FOCAD
entrez
54914
canonical
uniprot
Q5VW36
canonical
ensembl
ENSG00000188352
resolver
ensp
ENSP00000344307
resolver
ensp
ENSP00000369599
resolver
ensp
ENSP00000564834
resolver
ensp
ENSP00000564835
resolver
ensp
ENSP00000564836
resolver
ensp
ENSP00000564842
resolver
ensp
ENSP00000609198
resolver
ensp
ENSP00000609199
resolver
ensp
ENSP00000609201
resolver
ensp
ENSP00000634756
resolver
ensp
ENSP00000634757
resolver
ensp
ENSP00000634758
resolver
ensp
ENSP00000694222
resolver
enst
ENST00000338382
resolver
enst
ENST00000380249
resolver
enst
ENST00000894775
resolver
enst
ENST00000894776
resolver
enst
ENST00000894777
resolver
enst
ENST00000939139
resolver
enst
ENST00000939140
resolver
enst
ENST00000964697
resolver
enst
ENST00000964698
resolver
enst
ENST00000964699
resolver
genesymbol
FOCAD
resolver
genesymbol_syn
KIAA1797
resolver
hgnc
HGNC:23377
resolver
uniprot
B3KNV9
resolver
uniprot
D3DRJ9
resolver
uniprot
Q6ZME1
resolver
uniprot
Q8IZG0
resolver
uniprot
Q96JM8
resolver
uniprot
Q96MS9
resolver
uniprot
Q9BVF3
resolver
uniprot
Q9NX87
resolver
uniprot_entry
B3KNV9_HUMAN
resolver
uniprot_entry
FOCAD_HUMAN
resolver
uniprot_sec
D3DRJ9
resolver
uniprot_sec
Q6ZME1
resolver
uniprot_sec
Q8IZG0
resolver
uniprot_sec
Q96JM8
resolver
uniprot_sec
Q96MS9
resolver
uniprot_sec
Q9BVF3
resolver
uniprot_sec
Q9NX87
resolver
amino_acid_sequence
MSDDIRKRFEFPNSLIQSQAVGHLIAAVLKENGFSEKIHQSTNQTPALNLLWEKCCSDNVVVRTACCEGLVALVAQDHAEFSYVLNGILNLIPSTRNTHGLIKAIMHLLQMQALKEGQGGEKNIQSIYTIRNHPHPLITVLEHRPDCWPVFLQQLTAFFQQCPERLEVSCIQIMAPFLWYLYCEPSQLQEYAKLRLALLKVLLQPQVLCDKDQPSILEQQILQLCCDIVPCLQVKDLIQTTEAMMFIEEVCLSLLRHPVFWKIQLTQMSLQLLCVSEVSLKITGECSSSIHLLEHSVELLKEDFPVELVIIGIALLLLQTPASQQKPILNLALKLLSVTEDQKIPKSSLLLVMPILQILSSTALEDCISVDEEGPSRQQLALNLLEMIQQECYRDDHQKLSYKLVCPVTSMYGTIFTAWRILEVMTDSSAASDWLASVESLLPITAVIPAPAFLLLAHLLVEDKGQNLHQILKVTTELAQADSSQVPNLIPVLMFKLGRPLEPILYNDILYTLPKLGVHKVCIGQILRIIQLLGTTPRLRAVTLRLLTSLWEKQDRVYPELQRFMAVSDVPSLSVGKEVQWEKLIAKAASIRDICKQRPYQHGADMLAAISQVLNECTKPDQATPAALVLQGLHALCQAEVVCIRSTWNALSPKLSCDTRPLILKTLSELFSLVPSLTVNTTEYENFKVQVLSFLWTHTQNKDPIVANAAYRSLANFSAGEHTILHLPEKIRPEIPIPEELDDDEDVEDVDLSVPGSCYLKLLSLTPPLVLPALEEFFTSLVKQEMVNMPRGIYHSALKGGARSDQGKTVAGIPNFILKMYETNKQPGLKPGLAGGMLFCYDVSMYQSKDGKPLNRLMASRGRSFKQTSLALVHEVHIQLSEWHRAIFLPQAWLAYMNRAYHAILQGRLGELELQLKHGKEEPEEVQYKKSTAWLWVRDMLTDEITKAAAKESPVVKGNALLALSSLAVVVSRHEASLSSDSDGLLEVQPNFLSMKEWVSMVLDTLLVIVDSHYQPRGQLLSWFYYKSYSGENTASAIARSAAATALSLLVPVFIISCKEKVEEILNMLTARLPGKPSADESQAVQIHMGLALGMFLSRLCEEKLSDISGQEMNLLLMKSLDALENCCFDTSLEYNTGCILGVGLVLSLMSHSSQMQSRVHVAALLRKLSAHVDDSGSQSRTFQEVLAYTLSCVCTSAFSAGIIEATEAEDVMNKLRLLVENSQQTSGFALALGNIVHGLSVCGHGKAEDLGSKLLPAWIRIVLTEGTPTMLCLAALHGMVALVGSEGDVMQLKSEAIQTSHFQGRLNEVIRTLTQVISVSGVIGLQSNAVWLLGHLHLSTLSSSQSRASVPTDYSYLPESSFIGAAIGFFITGGKKGPESVPPSLLKVVMKPIATVGESYQYPPVNWAALLSPLMRLNFGEEIQQLCLEIMVTQAQSSQNAAALLGLWVTPPLIHSLSLNTKRYLLISAPLWIKHISDEQILGFVENLMVAVFKAASPLGSPELCPSALHGLSQAMKLPSPAHHLWSLLSEATGKIFDLLPNKIRRKDLELYISIAKCLLEMTDDDANRIAQVTKSNIEKAAFVKLYLVSQGRFPLVNLTDMLSVAVQHREKEVLAWMILHSLYQARIVSHANTGVLKRMEWLLELMGYIRNVAYQSTSFHNTALDKALDFFLLIFATAVVAWADHTAPLLLGLSASWLPWHQENGPAGPVPSFLGRSPMHRVTLQEVLTLLPNSMALLLQKEPWKEQTQKFIDWLFSIMESPKEALSAQSRDLLKATLLSLRVLPEFKKKAVWTRAYGW
uniprot
proteins
disease_involvement
DISEASE: Liver disease, severe congenital (SCOLIV) [MIM:619991]: An autosomal recessive disease characterized by severe neonatal liver cirrhosis and progressive hepatic dysfunction. Affected individuals have feeding difficulties, poor overall growth, and failure to thrive with signs of malnutrition. Additional features include jaundice, abdominal distension, hepatomegaly or hepatosplenomegaly, and ascites in most patients. {ECO:0000269|PubMed:35864190}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the maintenance of SKIC2 and SKIC3 proteostatic levels in the liver. May be involved in the regulation of RNA degradation by the exosome complex (PubMed:35864190). Potential tumor suppressor in gliomas. {ECO:0000250, ECO:0000269|PubMed:22427331, ECO:0000269|PubMed:35864190}.
uniprot
proteins
mass_dalton
200058
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16877819
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22427331
uniprot
proteins
pubmed
35864190
uniprot
proteins
sequence_length
1801
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, focal adhesion {ECO:0000269|PubMed:22427331}. Cytoplasm, cytosol {ECO:0000269|PubMed:35864190}. Note=In astrocytes, colocalizes with VCL to the end of actin stress fibers, which normally terminate at focal adhesions. In hepatocytes, it is found in the cytosol. {ECO:0000269|PubMed:22427331, ECO:0000269|PubMed:35864190}.
uniprot
proteins