T3DB: Cubilin

Name	Cubilin
Synonyms	460 kDa receptor IFCR Intestinal intrinsic factor receptor Intrinsic factor-cobalamin receptor Intrinsic factor-vitamin B12 receptor
Gene Name	CUBN
Organism	Human
Amino acid sequence	>lcl\|BSEQ0016258\|Cubilin MMNMSLPFLWSLLTLLIFAEVNGEAGELELQRQKRSINLQQPRMATERGNLVFLTGSAQN IEFRTGSLGKIKLNDEDLSECLHQIQKNKEDIIELKGSAIGLPQNISSQIYQLNSKLVDL ERKFQGLQQTVDKKVCSSNPCQNGGTCLNLHDSFFCICPPQWKGPLCSADVNECEIYSGT PLSCQNGGTCVNTMGSYSCHCPPETYGPQCASKYDDCEGGSVARCVHGICEDLMREQAGE PKYSCVCDAGWMFSPNSPACTLDRDECSFQPGPCSTLVQCFNTQGSFYCGACPTGWQGNG YICEDINECEINNGGCSVAPPVECVNTPGSSHCQACPPGYQGDGRVCTLTDICSVSNGGC HPDASCSSTLGSLPLCTCLPGYTGNGYGPNGCVQLSNICLSHPCLNGQCIDTVSGYFCKC DSGWTGVNCTENINECLSNPCLNGGTCVDGVDSFSCECTRLWTGALCQVPQQVCGESLSG INGSFSYRSPDVGYVHDVNCFWVIKTEMGKVLRITFTFFRLESMDNCPHEFLQVYDGDSS SAFQLGRFCGSSLPHELLSSDNALYFHLYSEHLRNGRGFTVRWETQQPECGGILTGPYGS IKSPGYPGNYPPGRDCVWIVVTSPDLLVTFTFGTLSLEHHDDCNKDYLEIRDGPLYQDPL LGKFCTTFSVPPLQTTGPFARIHFHSDSQISDQGFHITYLTSPSDLRCGGNYTDPEGELF LPELSGPFTHTRQCVYMMKQPQGEQIQINFTHVELQCQSDSSQNYIEVRDGETLLGKVCG NGTISHIKSITNSVWIRFKIDASVEKASFRAVYQVACGDELTGEGVIRSPFFPNVYPGER TCRWTIHQPQSQVILLNFTVFEIGSSAHCETDYVEIGSSSILGSPENKKYCGTDIPSFIT SVYNFLYVTFVKSSSTENHGFMAKFSAEDLACGEILTESTGTIQSPGHPNVYPHGINCTW HILVQPNHLIHLMFETFHLEFHYNCTNDYLEVYDTDSETSLGRYCGKSIPPSLTSSGNSL MLVFVTDSDLAYEGFLINYEAISAATACLQDYTDDLGTFTSPNFPNNYPNNWECIYRITV RTGQLIAVHFTNFSLEEAIGNYYTDFLEIRDGGYEKSPLLGIFYGSNLPPTIISHSNKLW LKFKSDQIDTRSGFSAYWDGSSTGCGGNLTTSSGTFISPNYPMPYYHSSECYWWLKSSHG SAFELEFKDFHLEHHPNCTLDYLAVYDGPSSNSHLLTQLCGDEKPPLIRSSGDSMFIKLR TDEGQQGRGFKAEYRQTCENVVIVNQTYGILESIGYPNPYSENQHCNWTIRATTGNTVNY TFLAFDLEHHINCSTDYLELYDGPRQMGRYCGVDLPPPGSTTSSKLQVLLLTDGVGRREK GFQMQWFVYGCGGELSGATGSFSSPGFPNRYPPNKECIWYIRTDPGSSIQLTIHDFDVEY HSRCNFDVLEIYGGPDFHSPRIAQLCTQRSPENPMQVSSTGNELAIRFKTDLSINGRGFN ASWQAVTGGCGGIFQAPSGEIHSPNYPSPYRSNTDCSWVIRVDRNHRVLLNFTDFDLEPQ DSCIMAYDGLSSTMSRLARTCGREQLANPIVSSGNSLFLRFQSGPSRQNRGFRAQFRQAC GGHILTSSFDTVSSPRFPANYPNNQNCSWIIQAQPPLNHITLSFTHFELERSTTCARDFV EILDGGHEDAPLRGRYCGTDMPHPITSFSSALTLRFVSDSSISAGGFHTTVTASVSACGG TFYMAEGIFNSPGYPDIYPPNVECVWNIVSSPGNRLQLSFISFQLEDSQDCSRDFVEIRE GNATGHLVGRYCGNSFPLNYSSIVGHTLWVRFISDGSGSGTGFQATFMKIFGNDNIVGTH GKVASPFWPENYPHNSNYQWTVNVNASHVVHGRILEMDIEEIQNCYYDKLRIYDGPSIHA RLIGAYCGTQTESFSSTGNSLTFHFYSDSSISGKGFLLEWFAVDAPDGVLPTIAPGACGG FLRTGDAPVFLFSPGWPDSYSNRVDCTWLIQAPDSTVELNILSLDIESHRTCAYDSLVIR DGDNNLAQQLAVLCGREIPGPIRSTGEYMFIRFTSDSSVTRAGFNASFHKSCGGYLHADR GIITSPKYPETYPSNLNCSWHVLVQSGLTIAVHFEQPFQIPNGDSSCNQGDYLVLRNGPD ICSPPLGPPGGNGHFCGSHASSTLFTSDNQMFVQFISDHSNEGQGFKIKYEAKSLACGGN VYIHDADSAGYVTSPNHPHNYPPHADCIWILAAPPETRIQLQFEDRFDIEVTPNCTSNYL ELRDGVDSDAPILSKFCGTSLPSSQWSSGEVMYLRFRSDNSPTHVGFKAKYSIAQCGGRV PGQSGVVESIGHPTLPYRDNLFCEWHLQGLSGHYLTISFEDFNLQNSSGCEKDFVEIWDN HTSGNILGRYCGNTIPDSIDTSSNTAVVRFVTDGSVTASGFRLRFESSMEECGGDLQGSI GTFTSPNYPNPNPHGRICEWRITAPEGRRITLMFNNLRLATHPSCNNEHVIVFNGIRSNS PQLEKLCSSVNVSNEIKSSGNTMKVIFFTDGSRPYGGFTASYTSSEDAVCGGSLPNTPEG NFTSPGYDGVRNYSRNLNCEWTLSNPNQGNSSISIHFEDFYLESHQDCQFDVLEFRVGDA DGPLMWRLCGPSKPTLPLVIPYSQVWIHFVTNERVEHIGFHAKYSFTDCGGIQIGDSGVI TSPNYPNAYDSLTHCSSLLEAPQGHTITLTFSDFDIEPHTTCAWDSVTVRNGGSPESPII GQYCGNSNPRTIQSGSNQLVVTFNSDHSLQGGGFYATWNTQTLGCGGIFHSDNGTIRSPH WPQNFPENSRCSWTAITHKSKHLEISFDNNFLIPSGDGQCQNSFVKVWAGTEEVDKALLA TGCGNVAPGPVITPSNTFTAVFQSQEAPAQGFSASFVSRCGSNFTGPSGYIISPNYPKQY DNNMNCTYVIEANPLSVVLLTFVSFHLEARSAVTGSCVNDGVHIIRGYSVMSTPFATVCG DEMPAPLTIAGPVLLNFYSNEQITDFGFKFSYRIISCGGVFNFSSGIITSPAYSYADYPN DMHCLYTITVSDDKVIELKFSDFDVVPSTSCSHDYLAIYDGANTSDPLLGKFCGSKRPPN VKSSNNSMLLVFKTDSFQTAKGWKMSFRQTLGPQQGCGGYLTGSNNTFASPDSDSNGMYD KNLNCVWIIIAPVNKVIHLTFNTFALEAASTRQRCLYDYVKLYDGDSENANLAGTFCGST VPAPFISSGNFLTVQFISDLTLEREGFNATYTIMDMPCGGTYNATWTPQNISSPNSSDPD VPFSICTWVIDSPPHQQVKITVWALQLTSQDCTQNYLQLQDSPQGHGNSRFQFCGRNASA VPVFYSSMSTAMVIFKSGVVNRNSRMSFTYQIADCNRDYHKAFGNLRSPGWPDNYDNDKD CTVTLTAPQNHTISLFFHSLGIENSVECRNDFLEVRNGSNSNSPLLGKYCGTLLPNPVFS QNNELYLRFKSDSVTSDRGYEIIWTSSPSGCGGTLYGDRGSFTSPGYPGTYPNNTYCEWV LVAPAGRLVTINFYFISIDDPGDCVQNYLTLYDGPNASSPSSGPYCGGDTSIAPFVASSN QVFIKFHADYARRPSAFRLTWDS
Number of residues	3623
Molecular Weight	398732.93
Theoretical pI	5.0
GO Classification	Functions protein homodimerization activity transporter activity receptor activity calcium ion binding cobalamin binding Processes tissue homeostasis small molecule metabolic process cobalamin metabolic process vitamin D metabolic process receptor-mediated endocytosis lipoprotein transport steroid metabolic process vitamin metabolic process water-soluble vitamin metabolic process cholesterol metabolic process lipoprotein metabolic process cobalamin transport Components Golgi apparatus cytosol extrinsic component of external side of plasma membrane extracellular exosome endosome membrane membrane apical plasma membrane brush border membrane endoplasmic reticulum endocytic vesicle plasma membrane lysosomal membrane coated pit lysosomal lumen
General Function	Transporter activity
Specific Function	Cotransporter which plays a role in lipoprotein, vitamin and iron metabolism, by facilitating their uptake. Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the GIF-cobalamin complex. The binding of all ligands requires calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. Interaction with LRP2 mediates its trafficking throughout vesicles and facilitates the uptake of specific ligands like GC, hemoglobin, ALB, TF and SCGB1A1. Interaction with AMN controls its trafficking to the plasma membrane and facilitates endocytosis of ligands. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.
Pfam Domain Function	EGF (PF00008 ) EGF_CA (PF07645 ) CUB (PF00431 ) EGF_3 (PF12947 )
Transmembrane Regions	Not Available
GenBank Protein ID	3929529
UniProtKB ID	O60494
UniProtKB Entry Name	CUBN_HUMAN
Cellular Location	Endosome membrane
Gene sequence	>lcl\|BSEQ0016259\|Cubilin (CUBN) ATGATGAACATGTCTTTACCTTTTCTTTGGAGTTTGCTTACCTTATTAATATTTGCTGAA GTAAATGGCGAAGCTGGAGAACTTGAGCTGCAGAGACAAAAAAGAAGCATCAATCTCCAA CAGCCTCGAATGGCTACAGAGAGAGGAAATTTGGTGTTTCTTACGGGGTCTGCTCAAAAC ATTGAGTTTAGAACCGGATCCCTGGGAAAAATTAAATTAAATGATGAAGATCTCAGTGAG TGTTTACATCAGATCCAGAAAAACAAAGAAGATATTATAGAGTTAAAAGGGAGTGCAATT GGTCTGCCTCAAAATATATCTAGTCAAATCTATCAGCTTAATTCCAAGCTGGTGGATCTT GAGAGAAAATTCCAAGGCTTGCAGCAGACTGTTGACAAAAAGGTTTGCAGCAGCAATCCT TGCCAGAATGGTGGAACCTGCCTCAATCTGCATGATTCCTTTTTTTGTATCTGTCCCCCA CAGTGGAAGGGTCCTCTCTGCTCAGCTGATGTTAACGAATGTGAGATTTACTCAGGAACA CCCTTGAGCTGCCAGAATGGAGGCACATGTGTTAATACAATGGGAAGTTACAGTTGTCAC TGCCCACCTGAGACGTACGGACCCCAGTGTGCATCCAAATATGACGACTGTGAAGGGGGT TCTGTGGCACGCTGTGTCCATGGCATCTGTGAGGATTTAATGCGAGAGCAAGCTGGAGAG CCCAAGTACAGCTGCGTCTGTGATGCTGGGTGGATGTTTTCACCCAACAGCCCTGCCTGC ACGCTGGACAGAGACGAGTGCAGCTTCCAGCCCGGGCCTTGCTCCACACTTGTGCAGTGT TTCAACACTCAAGGCTCTTTCTACTGTGGGGCCTGTCCAACAGGCTGGCAAGGCAATGGA TATATTTGCGAAGATATCAATGAATGTGAGATAAATAACGGCGGCTGTTCTGTGGCTCCA CCCGTTGAGTGTGTGAATACACCTGGGTCTTCCCACTGCCAGGCCTGTCCACCAGGGTAC CAGGGTGACGGAAGAGTGTGCACACTCACAGACATCTGCTCAGTCAGTAATGGAGGCTGC CACCCAGATGCCTCATGCTCCTCAACTCTAGGTTCCTTACCTCTCTGCACGTGTCTCCCG GGTTATACTGGAAATGGTTATGGGCCAAATGGATGTGTGCAGCTCAGTAATATTTGCCTA AGTCACCCCTGTCTAAATGGACAATGCATCGACACTGTCTCTGGTTATTTTTGTAAGTGT GACTCAGGTTGGACAGGTGTCAACTGTACAGAAAACATCAATGAGTGTTTGAGCAACCCC TGTTTGAATGGAGGAACTTGTGTTGATGGCGTTGATTCTTTCAGTTGTGAATGCACACGT CTCTGGACTGGAGCTCTCTGTCAGGTTCCTCAGCAAGTTTGTGGAGAGTCCCTCTCAGGA ATAAATGGAAGCTTCAGCTACAGGAGCCCGGATGTTGGTTATGTTCATGATGTTAACTGC TTCTGGGTTATCAAAACTGAAATGGGAAAGGTCCTGCGTATCACTTTCACTTTTTTCCGG TTAGAATCCATGGACAACTGTCCACACGAGTTTCTTCAGGTTTATGATGGAGATTCCTCT TCTGCTTTTCAACTTGGAAGATTTTGTGGCTCCAGCCTCCCTCATGAACTCCTCAGCAGT GACAATGCTCTCTATTTTCATCTCTATTCTGAACATTTAAGAAATGGGAGAGGCTTTACA GTAAGATGGGAAACACAGCAACCAGAGTGTGGAGGTATCCTGACTGGTCCTTACGGTTCT ATTAAGTCTCCGGGGTATCCTGGAAACTATCCCCCAGGAAGAGATTGTGTCTGGATTGTT GTAACTAGTCCTGACCTCCTGGTAACATTTACTTTTGGGACCTTGAGCCTCGAGCACCAT GATGACTGCAACAAAGATTACCTTGAGATTCGAGATGGTCCTTTGTATCAGGACCCCCTT CTTGGGAAGTTCTGCACCACTTTCTCTGTCCCACCGCTCCAGACTACTGGCCCCTTTGCC AGAATTCACTTCCATTCAGACTCCCAGATTAGTGACCAAGGCTTCCATATCACCTACTTA ACATCACCTTCGGATCTGCGTTGTGGTGGGAACTACACGGACCCAGAGGGTGAACTCTTC TTGCCTGAGTTGTCTGGGCCTTTCACTCACACCAGGCAATGCGTCTATATGATGAAGCAG CCCCAGGGAGAACAAATACAAATCAACTTCACCCACGTGGAGCTGCAATGCCAGAGTGAC AGTTCTCAGAATTACATTGAGGTTCGAGATGGTGAAACCTTACTTGGAAAAGTCTGTGGC AACGGAACCATCTCTCACATTAAATCCATTACTAATAGTGTCTGGATCAGGTTTAAAATA GATGCTTCTGTTGAAAAAGCTAGTTTCAGAGCTGTTTATCAAGTCGCTTGCGGGGATGAA TTAACTGGAGAAGGGGTCATTCGCTCGCCTTTTTTTCCTAACGTGTATCCTGGAGAAAGA ACCTGTAGGTGGACCATCCACCAGCCCCAAAGCCAAGTCATTCTCCTCAACTTCACTGTC TTTGAAATTGGAAGTTCTGCCCACTGTGAAACAGATTATGTTGAGATTGGTAGCAGTTCC ATTTTGGGTTCTCCTGAAAATAAAAAGTATTGCGGTACAGACATACCTTCATTTATAACA TCTGTGTACAATTTTCTTTATGTCACATTCGTGAAAAGTTCTTCTACTGAAAACCATGGT TTCATGGCTAAGTTCAGTGCTGAGGATTTGGCATGTGGAGAAATTCTTACAGAATCAACA GGGACCATTCAAAGTCCTGGCCATCCAAATGTCTACCCCCACGGTATCAACTGTACTTGG CATATATTAGTCCAACCTAATCACCTGATTCATTTAATGTTCGAAACATTTCATCTGGAG TTTCATTACAATTGCACAAACGACTACTTGGAAGTTTATGACACCGACTCTGAGACATCC CTTGGAAGATACTGTGGAAAGTCGATCCCGCCATCTCTCACAAGCAGTGGTAACTCATTG ATGCTGGTGTTTGTGACTGACTCCGACCTCGCTTATGAAGGCTTCTTAATAAACTATGAA GCAATCAGTGCAGCAACAGCATGTTTGCAAGACTACACAGATGATTTGGGGACATTCACT TCTCCAAACTTCCCCAATAATTATCCCAACAACTGGGAATGCATTTATCGGATCACAGTG AGAACTGGCCAACTGATTGCAGTGCACTTCACAAACTTCTCCTTGGAGGAAGCCATTGGA AACTATTATACAGATTTTCTGGAAATCAGAGATGGAGGCTATGAAAAATCACCATTGCTG GGAATATTCTATGGCTCAAATCTACCCCCAACAATCATCTCTCATAGTAACAAACTATGG TTAAAATTTAAGAGTGACCAAATAGACACAAGGTCTGGATTCTCAGCTTACTGGGATGGG TCATCAACAGGTTGCGGGGGTAATCTCACCACTTCAAGCGGCACGTTCATATCTCCCAAC TACCCGATGCCCTATTACCACAGCTCTGAATGCTACTGGTGGTTGAAATCTAGCCACGGC AGCGCATTTGAACTGGAATTCAAAGACTTTCACTTGGAGCATCATCCAAACTGCACTTTA GATTACCTGGCTGTATATGATGGCCCAAGTAGCAACTCTCATCTGCTAACTCAGCTTTGT GGGGATGAGAAACCCCCTCTTATTCGTTCTAGTGGAGACAGCATGTTTATAAAACTGAGG ACAGATGAAGGTCAGCAAGGACGTGGCTTCAAGGCTGAATACCGGCAGACATGTGAGAAT GTGGTAATAGTCAATCAAACCTATGGCATCTTAGAGAGTATAGGGTATCCGAATCCTTAT TCTGAAAATCAGCATTGCAACTGGACCATCCGGGCAACAACAGGCAACACTGTGAACTAC ACATTTTTAGCATTTGACTTGGAACATCACATAAACTGCTCCACAGATTATTTAGAGCTC TATGATGGACCACGGCAGATGGGACGCTACTGTGGAGTAGACCTGCCCCCTCCAGGGAGT ACTACAAGCTCCAAGCTTCAAGTGCTGCTCCTTACAGATGGGGTTGGCCGCCGTGAGAAA GGATTTCAGATGCAGTGGTTTGTTTACGGTTGTGGTGGAGAGCTGTCTGGGGCCACAGGC TCCTTCAGCAGCCCCGGGTTCCCCAACAGGTATCCACCAAACAAGGAGTGTATCTGGTAC ATTAGGACGGACCCCGGGAGTAGCATTCAGCTCACCATCCATGACTTCGATGTGGAGTAT CATTCAAGGTGCAACTTTGATGTCTTGGAGATCTATGGAGGCCCCGATTTCCACTCTCCC AGAATAGCCCAACTGTGTACCCAGAGATCACCTGAGAACCCCATGCAGGTCTCCAGCACT GGAAATGAGCTAGCAATTCGATTCAAGACCGACTTGTCCATAAATGGGAGAGGCTTCAAT GCGTCATGGCAAGCAGTCACTGGAGGTTGTGGTGGGATTTTCCAGGCTCCCAGTGGAGAG ATTCATTCTCCAAATTACCCCAGTCCTTATAGGAGCAACACAGACTGTTCTTGGGTCATT CGGGTTGACAGAAATCATCGTGTTCTCTTGAACTTCACTGACTTTGATCTTGAACCACAA GACTCTTGTATTATGGCATACGATGGCTTAAGCTCCACAATGTCCCGCCTTGCCAGGACG TGTGGAAGGGAGCAGCTGGCTAACCCCATCGTCTCCTCAGGAAACAGCCTCTTCTTGAGA TTTCAGTCTGGCCCTTCCAGACAGAACAGAGGCTTCCGAGCTCAATTCAGGCAAGCCTGC GGAGGCCACATCCTCACCAGCTCATTTGATACTGTTTCCTCTCCACGGTTCCCTGCCAAT TATCCAAACAATCAGAACTGCAGCTGGATCATTCAAGCGCAACCTCCATTAAATCATATC ACCCTCTCTTTTACCCACTTTGAACTTGAAAGAAGCACAACGTGTGCACGTGACTTTGTA GAAATTTTGGATGGCGGCCACGAAGACGCGCCCCTCCGAGGCCGTTACTGTGGCACCGAC ATGCCCCATCCTATCACATCCTTCAGCAGCGCCCTGACGCTGAGATTCGTCTCTGATTCT AGCATCAGTGCTGGGGGTTTCCACACCACGGTCACCGCATCAGTGTCGGCTTGTGGTGGA ACGTTCTACATGGCTGAAGGCATCTTCAACAGCCCTGGCTACCCAGACATTTATCCCCCT AATGTGGAATGTGTCTGGAACATCGTCAGTTCCCCTGGCAACCGGCTCCAGCTGTCTTTT ATATCTTTCCAGTTGGAAGACTCTCAGGACTGCAGCAGAGATTTTGTGGAGATCCGTGAA GGAAATGCCACGGGTCACTTGGTGGGACGATACTGTGGAAACTCCTTCCCTCTCAATTAT TCTTCCATCGTTGGACATACCCTGTGGGTCAGATTTATCTCAGATGGTTCTGGCAGCGGC ACGGGCTTCCAGGCCACATTTATGAAGATATTTGGCAATGATAATATTGTGGGAACTCAT GGGAAAGTCGCCTCTCCTTTCTGGCCTGAAAACTACCCACATAACTCCAATTACCAATGG ACAGTAAATGTGAATGCATCTCACGTTGTCCATGGTAGAATCTTGGAGATGGACATAGAA GAAATACAAAACTGCTATTATGACAAATTAAGGATCTATGATGGGCCTAGCATTCACGCC CGCCTAATTGGAGCTTACTGTGGTACCCAGACTGAATCTTTCAGCTCCACTGGAAATTCT TTGACATTTCATTTTTACTCCGACTCTTCAATCTCAGGGAAGGGATTCCTTCTGGAGTGG TTTGCAGTGGATGCACCTGATGGTGTTTTACCTACCATTGCTCCAGGTGCTTGTGGTGGC TTCCTGAGGACGGGAGATGCACCCGTGTTTCTCTTCTCCCCGGGCTGGCCTGACAGTTAC AGTAATAGAGTGGACTGTACGTGGCTCATCCAGGCTCCCGACTCTACCGTGGAACTCAAC ATTCTTTCCCTGGACATTGAATCTCACCGAACGTGTGCCTATGATAGCCTTGTGATACGA GATGGAGATAATAACTTGGCCCAGCAGCTAGCAGTTCTCTGTGGCAGAGAGATCCCTGGG CCCATCCGGTCTACTGGAGAGTACATGTTCATCCGCTTCACCTCGGACTCCAGTGTAACC AGGGCAGGCTTCAATGCATCCTTTCACAAGAGCTGCGGTGGATATTTGCATGCAGACAGA GGGATCATCACGTCCCCCAAGTATCCAGAGACTTACCCATCCAACCTCAACTGTTCTTGG CACGTCCTGGTCCAAAGTGGCCTGACCATTGCTGTCCATTTTGAACAGCCTTTCCAGATT CCAAATGGAGATTCTTCTTGCAACCAGGGGGATTACTTGGTGCTAAGAAATGGTCCTGAT ATCTGTTCTCCACCCTTGGGACCCCCTGGAGGAAATGGTCATTTTTGTGGCAGTCATGCT TCATCAACTCTGTTCACCTCGGATAATCAAATGTTTGTTCAGTTTATTTCTGATCACAGT AATGAAGGGCAAGGATTTAAAATCAAATATGAGGCAAAGAGTTTAGCCTGTGGGGGCAAC GTCTACATCCATGATGCTGATTCTGCTGGGTATGTGACCTCCCCCAACCACCCTCATAAT TATCCCCCGCACGCTGATTGCATTTGGATCTTAGCGGCTCCACCGGAAACACGCATACAG CTGCAATTTGAAGATCGATTCGATATTGAAGTAACACCCAACTGTACTTCCAACTACCTT GAGTTGCGGGATGGAGTGGATTCGGATGCACCAATACTTTCCAAATTTTGTGGGACATCT TTGCCCAGCAGTCAGTGGTCCTCAGGAGAGGTTATGTATTTGAGATTTCGATCTGACAAC AGCCCCACACATGTGGGATTCAAGGCCAAGTATTCTATAGCTCAGTGTGGGGGAAGAGTA CCAGGGCAAAGTGGTGTTGTTGAAAGCATTGGACATCCAACACTTCCATACAGAGACAAC TTATTCTGTGAGTGGCATCTCCAGGGGCTCTCTGGACACTATCTCACCATCTCTTTTGAA GACTTTAACCTTCAGAATTCTTCTGGCTGTGAAAAAGACTTCGTGGAGATCTGGGACAAT CATACCTCTGGAAACATCTTGGGCAGATACTGTGGAAACACCATTCCTGACAGCATAGAC ACTTCTAGCAATACTGCTGTGGTCAGGTTTGTCACAGACGGCTCTGTGACTGCCTCAGGA TTCAGACTGCGATTTGAATCCAGTATGGAAGAGTGTGGTGGGGATCTTCAGGGCTCTATT GGAACATTTACTTCTCCCAACTACCCGAACCCAAATCCTCATGGCCGGATCTGCGAGTGG AGAATCACTGCCCCGGAGGGAAGGCGGATCACCCTAATGTTTAACAACCTGAGGCTGGCC ACGCATCCGTCCTGCAACAATGAGCATGTGATAGTATTCAATGGCATTAGAAGTAACTCA CCCCAGCTAGAGAAACTGTGTAGTAGTGTGAATGTAAGCAATGAGATTAAATCTTCAGGA AACACAATGAAAGTCATTTTTTTCACGGATGGATCCAGGCCATATGGCGGCTTCACTGCT TCCTATACCTCCAGTGAAGATGCAGTGTGTGGTGGGTCTCTTCCAAATACTCCTGAAGGA AACTTTACTTCTCCTGGCTATGACGGAGTCAGGAATTACTCAAGAAACCTGAACTGCGAA TGGACTCTCAGCAATCCAAATCAGGGAAATTCATCCATTTCCATTCACTTTGAAGATTTT TACCTAGAAAGTCACCAAGACTGTCAATTTGATGTCCTCGAGTTTCGAGTGGGTGATGCT GATGGGCCCCTGATGTGGAGACTTTGTGGTCCTTCAAAGCCTACATTGCCATTGGTTATA CCTTATTCTCAGGTATGGATTCACTTTGTCACCAACGAACGTGTAGAACACATTGGATTC CATGCAAAGTATTCCTTTACAGATTGTGGCGGAATACAGATAGGTGACAGTGGAGTGATC ACAAGCCCCAACTATCCAAATGCTTATGACAGCCTGACCCACTGCTCTTCGCTGTTGGAG GCCCCACAAGGGCACACCATCACTCTCACATTTAGTGACTTTGATATTGAACCCCATACA ACTTGTGCTTGGGACTCTGTCACTGTCAGGAATGGTGGGTCCCCTGAATCACCCATCATA GGACAATACTGTGGAAATTCAAACCCCAGGACAATACAGTCAGGTTCCAATCAGCTGGTC GTGACTTTTAACTCAGACCATTCATTGCAAGGTGGTGGATTTTATGCTACGTGGAACACA CAAACTTTAGGTTGTGGTGGAATATTTCATTCTGATAATGGTACAATCAGATCCCCTCAC TGGCCTCAGAATTTTCCCGAAAACAGCAGATGTTCCTGGACGGCCATTACTCACAAAAGT AAACACTTGGAGATCAGCTTTGACAACAACTTCCTAATCCCCAGCGGTGATGGACAATGT CAGAATAGCTTCGTGAAGGTGTGGGCAGGAACTGAGGAGGTGGACAAAGCCCTGCTAGCC ACTGGCTGTGGGAACGTGGCTCCGGGTCCCGTTATCACACCAAGTAACACATTCACTGCC GTCTTCCAGTCTCAGGAGGCACCAGCTCAGGGCTTCTCCGCGTCCTTTGTTAGCCGATGT GGAAGTAATTTCACTGGCCCTTCAGGTTACATCATTTCTCCAAATTACCCAAAACAATAT GACAACAACATGAATTGCACCTATGTCATAGAGGCTAATCCTCTGTCAGTGGTCCTCTTG ACTTTTGTGTCCTTCCACTTAGAAGCTCGTTCCGCTGTGACGGGAAGCTGTGTCAACGAT GGCGTGCACATTATCAGAGGTTACAGCGTCATGTCCACCCCATTTGCTACTGTGTGTGGG GATGAGATGCCAGCTCCCCTCACCATCGCTGGGCCGGTTCTGCTTAACTTCTACTCCAAC GAGCAAATCACAGACTTCGGATTCAAGTTTTCCTATAGGATAATCTCCTGTGGTGGTGTG TTCAATTTCTCTTCTGGAATCATCACAAGTCCTGCCTATTCATACGCAGACTACCCAAAT GATATGCACTGTCTGTATACCATCACCGTTAGTGACGACAAGGTGATCGAGCTCAAGTTC AGTGATTTTGATGTGGTTCCCTCCACCTCCTGCTCCCATGACTACCTGGCAATTTACGAT GGTGCCAATACCAGCGATCCCCTTCTTGGCAAATTCTGCGGTTCCAAGCGCCCACCAAAT GTGAAGAGCAGCAATAATAGTATGCTCCTGGTGTTCAAGACAGATTCATTTCAGACAGCA AAAGGCTGGAAGATGTCTTTCCGGCAGACATTGGGGCCTCAGCAAGGATGTGGTGGTTAT CTGACAGGCTCGAATAATACCTTTGCCTCTCCTGATTCTGATTCGAATGGAATGTATGAC AAGAATTTAAACTGTGTATGGATCATAATTGCACCTGTAAACAAAGTAATTCACCTCACC TTCAATACATTTGCTCTGGAGGCAGCAAGTACTAGGCAAAGATGCCTTTATGATTATGTA AAGTTATATGATGGGGATAGTGAAAATGCGAACTTGGCTGGAACGTTTTGTGGTTCCACA GTACCTGCTCCTTTTATCTCTTCTGGTAACTTCCTTACGGTTCAATTCATCAGTGACTTA ACATTAGAGAGGGAAGGATTTAATGCTACATACACCATCATGGACATGCCTTGTGGTGGA ACATACAATGCAACTTGGACCCCACAAAATATTTCATCACCCAATTCATCAGACCCAGAT GTCCCATTTTCCATCTGTACTTGGGTCATTGATTCCCCTCCGCATCAGCAGGTCAAGATA ACTGTGTGGGCATTACAGCTGACCTCGCAAGACTGCACGCAGAATTACTTACAGCTTCAG GACTCACCGCAGGGTCACGGAAATTCAAGATTTCAGTTCTGTGGCAGAAATGCTTCGGCT GTGCCAGTGTTTTATTCTTCTATGAGTACTGCAATGGTCATTTTCAAATCTGGAGTTGTA AACAGAAACTCTAGAATGAGTTTCACCTATCAGATTGCAGATTGCAACAGAGACTATCAC AAGGCATTTGGCAACCTGAGAAGCCCTGGATGGCCAGATAACTACGACAATGACAAGGAT TGCACCGTTACTCTCACAGCCCCCCAGAACCACACCATTTCCCTCTTTTTTCATTCACTT GGCATCGAGAACTCAGTTGAATGCAGAAACGATTTCTTGGAGGTGAGAAATGGAAGTAAC AGCAATTCACCATTACTGGGCAAGTACTGTGGAACTCTGCTGCCAAACCCTGTCTTCTCT CAAAATAATGAACTATACCTACGATTTAAGAGTGATAGTGTAACTTCTGATCGTGGATAT GAAATCATCTGGACTTCATCACCCTCTGGATGTGGTGGAACTCTTTATGGAGACAGAGGC TCATTCACCAGCCCCGGCTATCCAGGCACATACCCAAACAACACGTACTGCGAGTGGGTC CTTGTTGCTCCTGCTGGAAGGCTTGTCACCATCAACTTCTACTTCATCAGCATTGACGAT CCAGGAGACTGTGTCCAGAACTATCTCACACTCTATGATGGGCCCAACGCCAGCTCTCCA TCCTCTGGACCATACTGCGGAGGCGACACCAGCATAGCTCCCTTCGTGGCTTCCTCAAAT CAGGTCTTCATAAAATTTCATGCTGATTATGCACGGCGTCCATCCGCATTCCGATTAACT TGGGACAGCTAA
GenBank Gene ID	AF034611
GeneCard ID	Not Available
GenAtlas ID	CUBN
HGNC ID	HGNC:2548
Chromosome Location	10
Locus	10p12.31
References	Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N, Verroust PJ, Moestrup SK: The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. 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Nature. 2004 May 27;429(6990):375-81. 15164054 Kozyraki R, Fyfe J, Kristiansen M, Gerdes C, Jacobsen C, Cui S, Christensen EI, Aminoff M, de la Chapelle A, Krahe R, Verroust PJ, Moestrup SK: The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein. Nat Med. 1999 Jun;5(6):656-61. 10371504 Nykjaer A, Fyfe JC, Kozyraki R, Leheste JR, Jacobsen C, Nielsen MS, Verroust PJ, Aminoff M, de la Chapelle A, Moestrup SK, Ray R, Gliemann J, Willnow TE, Christensen EI: Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13895-900. 11717447 Kozyraki R, Fyfe J, Verroust PJ, Jacobsen C, Dautry-Varsat A, Gburek J, Willnow TE, Christensen EI, Moestrup SK: Megalin-dependent cubilin-mediated endocytosis is a major pathway for the apical uptake of transferrin in polarized epithelia. Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12491-6. Epub 2001 Oct 16. 11606717 Fyfe JC, Madsen M, Hojrup P, Christensen EI, Tanner SM, de la Chapelle A, He Q, Moestrup SK: The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood. 2004 Mar 1;103(5):1573-9. Epub 2003 Oct 23. 14576052 Caratu G, Allegra D, Bimonte M, Schiattarella GG, D'Ambrosio C, Scaloni A, Napolitano M, Russo T, Zambrano N: Identification of the ligands of protein interaction domains through a functional approach. Mol Cell Proteomics. 2007 Feb;6(2):333-45. Epub 2006 Nov 23. 17124247 Andersen CB, Madsen M, Storm T, Moestrup SK, Andersen GR: Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes. Nature. 2010 Mar 18;464(7287):445-8. doi: 10.1038/nature08874. 20237569 Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R: Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet. 1999 Mar;21(3):309-13. 10080186 Kristiansen M, Aminoff M, Jacobsen C, de La Chapelle A, Krahe R, Verroust PJ, Moestrup SK: Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. Blood. 2000 Jul 15;96(2):405-9. 10887099 Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. 16959974 Boger CA, Chen MH, Tin A, Olden M, Kottgen A, de Boer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A, Liu CT, Glazer NL, Li M, O'Connell JR, Tanaka T, Peralta CA, Kutalik Z, Luan J, Zhao JH, Hwang SJ, Akylbekova E, Kramer H, van der Harst P, Smith AV, Lohman K, de Andrade M, Hayward C, Kollerits B, Tonjes A, Aspelund T, Ingelsson E, Eiriksdottir G, Launer LJ, Harris TB, Shuldiner AR, Mitchell BD, Arking DE, Franceschini N, Boerwinkle E, Egan J, Hernandez D, Reilly M, Townsend RR, Lumley T, Siscovick DS, Psaty BM, Kestenbaum B, Haritunians T, Bergmann S, Vollenweider P, Waeber G, Mooser V, Waterworth D, Johnson AD, Florez JC, Meigs JB, Lu X, Turner ST, Atkinson EJ, Leak TS, Aasarod K, Skorpen F, Syvanen AC, Illig T, Baumert J, Koenig W, Kramer BK, Devuyst O, Mychaleckyj JC, Minelli C, Bakker SJ, Kedenko L, Paulweber B, Coassin S, Endlich K, Kroemer HK, Biffar R, Stracke S, Volzke H, Stumvoll M, Magi R, Campbell H, Vitart V, Hastie ND, Gudnason V, Kardia SL, Liu Y, Polasek O, Curhan G, Kronenberg F, Prokopenko I, Rudan I, Arnlov J, Hallan S, Navis G, Parsa A, Ferrucci L, Coresh J, Shlipak MG, Bull SB, Paterson NJ, Wichmann HE, Wareham NJ, Loos RJ, Rotter JI, Pramstaller PP, Cupples LA, Beckmann JS, Yang Q, Heid IM, Rettig R, Dreisbach AW, Bochud M, Fox CS, Kao WH: CUBN is a gene locus for albuminuria. J Am Soc Nephrol. 2011 Mar;22(3):555-70. doi: 10.1681/ASN.2010060598. 21355061 Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, Tuveson DA, Perez-Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust A, Chan-on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT, Stratton MR, Futreal PA: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature. 2011 Jan 27;469(7331):539-42. doi: 10.1038/nature09639. Epub 2011 Jan 19. 21248752 Tzur S, Wasser WG, Rosset S, Skorecki K: Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations. 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