• Gene id: 8029

Gene Summary

• Gene Symbol: CUBN   Gene   UCSC   Ensembl
• Aliases: IFCR, IGS, IGS1, MGA1, gp280
• Gene name: cubilin
• Alternate names: cubilin, 460 kDa receptor, cubilin (intrinsic factor-cobalamin receptor), cubilin precursor variant 1, cubilin precursor variant 2, cubilin precursor variant 3, intestinal intrinsic factor receptor, intrinsic factor-vitamin B12 receptor,
• Gene location: 10p13 (17130491: 16823965)     Exons: 71     NC_000010.11
• Gene summary(Entrez): Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autos

Protein Summary

• Protein general information: O60494  
  • Name: Cubilin (460 kDa receptor) (Intestinal intrinsic factor receptor) (Intrinsic factor cobalamin receptor) (Intrinsic factor vitamin B12 receptor)
  • Length: 3623  
  • Mass: 398736
  • Tissue specificity: Detected in kidney cortex (at protein level) (PubMed
• Sequence:

  MMNMSLPFLWSLLTLLIFAEVNGEAGELELQRQKRSINLQQPRMATERGNLVFLTGSAQNIEFRTGSLGKIKLND
  EDLSECLHQIQKNKEDIIELKGSAIGLPQNISSQIYQLNSKLVDLERKFQGLQQTVDKKVCSSNPCQNGGTCLNL
  HDSFFCICPPQWKGPLCSADVNECEIYSGTPLSCQNGGTCVNTMGSYSCHCPPETYGPQCASKYDDCEGGSVARC
  VHGICEDLMREQAGEPKYSCVCDAGWMFSPNSPACTLDRDECSFQPGPCSTLVQCFNTQGSFYCGACPTGWQGNG
  YICEDINECEINNGGCSVAPPVECVNTPGSSHCQACPPGYQGDGRVCTLTDICSVSNGGCHPDASCSSTLGSLPL
  CTCLPGYTGNGYGPNGCVQLSNICLSHPCLNGQCIDTVSGYFCKCDSGWTGVNCTENINECLSNPCLNGGTCVDG
  VDSFSCECTRLWTGALCQVPQQVCGESLSGINGSFSYRSPDVGYVHDVNCFWVIKTEMGKVLRITFTFFRLESMD
  NCPHEFLQVYDGDSSSAFQLGRFCGSSLPHELLSSDNALYFHLYSEHLRNGRGFTVRWETQQPECGGILTGPYGS
  IKSPGYPGNYPPGRDCVWIVVTSPDLLVTFTFGTLSLEHHDDCNKDYLEIRDGPLYQDPLLGKFCTTFSVPPLQT
  TGPFARIHFHSDSQISDQGFHITYLTSPSDLRCGGNYTDPEGELFLPELSGPFTHTRQCVYMMKQPQGEQIQINF
  THVELQCQSDSSQNYIEVRDGETLLGKVCGNGTISHIKSITNSVWIRFKIDASVEKASFRAVYQVACGDELTGEG
  VIRSPFFPNVYPGERTCRWTIHQPQSQVILLNFTVFEIGSSAHCETDYVEIGSSSILGSPENKKYCGTDIPSFIT
  SVYNFLYVTFVKSSSTENHGFMAKFSAEDLACGEILTESTGTIQSPGHPNVYPHGINCTWHILVQPNHLIHLMFE
  TFHLEFHYNCTNDYLEVYDTDSETSLGRYCGKSIPPSLTSSGNSLMLVFVTDSDLAYEGFLINYEAISAATACLQ
  DYTDDLGTFTSPNFPNNYPNNWECIYRITVRTGQLIAVHFTNFSLEEAIGNYYTDFLEIRDGGYEKSPLLGIFYG
  SNLPPTIISHSNKLWLKFKSDQIDTRSGFSAYWDGSSTGCGGNLTTSSGTFISPNYPMPYYHSSECYWWLKSSHG
  SAFELEFKDFHLEHHPNCTLDYLAVYDGPSSNSHLLTQLCGDEKPPLIRSSGDSMFIKLRTDEGQQGRGFKAEYR
  QTCENVVIVNQTYGILESIGYPNPYSENQHCNWTIRATTGNTVNYTFLAFDLEHHINCSTDYLELYDGPRQMGRY
  CGVDLPPPGSTTSSKLQVLLLTDGVGRREKGFQMQWFVYGCGGELSGATGSFSSPGFPNRYPPNKECIWYIRTDP
  GSSIQLTIHDFDVEYHSRCNFDVLEIYGGPDFHSPRIAQLCTQRSPENPMQVSSTGNELAIRFKTDLSINGRGFN
  ASWQAVTGGCGGIFQAPSGEIHSPNYPSPYRSNTDCSWVIRVDRNHRVLLNFTDFDLEPQDSCIMAYDGLSSTMS
  RLARTCGREQLANPIVSSGNSLFLRFQSGPSRQNRGFRAQFRQACGGHILTSSFDTVSSPRFPANYPNNQNCSWI
  IQAQPPLNHITLSFTHFELERSTTCARDFVEILDGGHEDAPLRGRYCGTDMPHPITSFSSALTLRFVSDSSISAG
  GFHTTVTASVSACGGTFYMAEGIFNSPGYPDIYPPNVECVWNIVSSPGNRLQLSFISFQLEDSQDCSRDFVEIRE
  GNATGHLVGRYCGNSFPLNYSSIVGHTLWVRFISDGSGSGTGFQATFMKIFGNDNIVGTHGKVASPFWPENYPHN
  SNYQWTVNVNASHVVHGRILEMDIEEIQNCYYDKLRIYDGPSIHARLIGAYCGTQTESFSSTGNSLTFHFYSDSS
  ISGKGFLLEWFAVDAPDGVLPTIAPGACGGFLRTGDAPVFLFSPGWPDSYSNRVDCTWLIQAPDSTVELNILSLD
  IESHRTCAYDSLVIRDGDNNLAQQLAVLCGREIPGPIRSTGEYMFIRFTSDSSVTRAGFNASFHKSCGGYLHADR
  GIITSPKYPETYPSNLNCSWHVLVQSGLTIAVHFEQPFQIPNGDSSCNQGDYLVLRNGPDICSPPLGPPGGNGHF
  CGSHASSTLFTSDNQMFVQFISDHSNEGQGFKIKYEAKSLACGGNVYIHDADSAGYVTSPNHPHNYPPHADCIWI
  LAAPPETRIQLQFEDRFDIEVTPNCTSNYLELRDGVDSDAPILSKFCGTSLPSSQWSSGEVMYLRFRSDNSPTHV
  GFKAKYSIAQCGGRVPGQSGVVESIGHPTLPYRDNLFCEWHLQGLSGHYLTISFEDFNLQNSSGCEKDFVEIWDN
  HTSGNILGRYCGNTIPDSIDTSSNTAVVRFVTDGSVTASGFRLRFESSMEECGGDLQGSIGTFTSPNYPNPNPHG
  RICEWRITAPEGRRITLMFNNLRLATHPSCNNEHVIVFNGIRSNSPQLEKLCSSVNVSNEIKSSGNTMKVIFFTD
  GSRPYGGFTASYTSSEDAVCGGSLPNTPEGNFTSPGYDGVRNYSRNLNCEWTLSNPNQGNSSISIHFEDFYLESH
  QDCQFDVLEFRVGDADGPLMWRLCGPSKPTLPLVIPYSQVWIHFVTNERVEHIGFHAKYSFTDCGGIQIGDSGVI
  TSPNYPNAYDSLTHCSSLLEAPQGHTITLTFSDFDIEPHTTCAWDSVTVRNGGSPESPIIGQYCGNSNPRTIQSG
  SNQLVVTFNSDHSLQGGGFYATWNTQTLGCGGIFHSDNGTIRSPHWPQNFPENSRCSWTAITHKSKHLEISFDNN
  FLIPSGDGQCQNSFVKVWAGTEEVDKALLATGCGNVAPGPVITPSNTFTAVFQSQEAPAQGFSASFVSRCGSNFT
  GPSGYIISPNYPKQYDNNMNCTYVIEANPLSVVLLTFVSFHLEARSAVTGSCVNDGVHIIRGYSVMSTPFATVCG
  DEMPAPLTIAGPVLLNFYSNEQITDFGFKFSYRIISCGGVFNFSSGIITSPAYSYADYPNDMHCLYTITVSDDKV
  IELKFSDFDVVPSTSCSHDYLAIYDGANTSDPLLGKFCGSKRPPNVKSSNNSMLLVFKTDSFQTAKGWKMSFRQT
  LGPQQGCGGYLTGSNNTFASPDSDSNGMYDKNLNCVWIIIAPVNKVIHLTFNTFALEAASTRQRCLYDYVKLYDG
  DSENANLAGTFCGSTVPAPFISSGNFLTVQFISDLTLEREGFNATYTIMDMPCGGTYNATWTPQNISSPNSSDPD
  VPFSICTWVIDSPPHQQVKITVWALQLTSQDCTQNYLQLQDSPQGHGNSRFQFCGRNASAVPVFYSSMSTAMVIF
  KSGVVNRNSRMSFTYQIADCNRDYHKAFGNLRSPGWPDNYDNDKDCTVTLTAPQNHTISLFFHSLGIENSVECRN
  DFLEVRNGSNSNSPLLGKYCGTLLPNPVFSQNNELYLRFKSDSVTSDRGYEIIWTSSPSGCGGTLYGDRGSFTSP
  GYPGTYPNNTYCEWVLVAPAGRLVTINFYFISIDDPGDCVQNYLTLYDGPNASSPSSGPYCGGDTSIAPFVASSN
  QVFIKFHADYARRPSAFRLTWDS

• Structural information:
  • Protein Domains: (132..16-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (170..21-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (263..30-)
    (/note="EGF-like-)
    (-)
    (/evi-)
  • Interpro: IPR000859  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR024731  IPR009030  IPR035914  
  • Prosite: PS00010 PS01180 PS00022 PS01186 PS50026 PS01187
  • CDD: cd00041
  • PDB: 3KQ4 6GJE
  • PDBsum: 3KQ4 6GJE
  • DIP: 58583
  • STRING: ENSP00000367064
• Other Databases: GeneCards:  CUBN  Malacards:  CUBN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0031419	cobalamin binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0015889	cobalamin transport	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0034384	high-density lipoprotein particle clearance	TAS	biological process
GO:0042359	vitamin D metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045177	apical part of cell	IEA	cellular component
GO:0042953	lipoprotein transport	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0030139	endocytic vesicle	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0006898	receptor-mediated endocytosis	IEA	biological process
GO:0005903	brush border	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0038024	cargo receptor activity	TAS	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001894	tissue homeostasis	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031232	extrinsic component of external side of plasma membrane	NAS	cellular component
GO:0031526	brush border membrane	NAS	cellular component
GO:0006898	receptor-mediated endocytosis	NAS	biological process
GO:0031526	brush border membrane	ISS	cellular component
GO:0008144	drug binding	ISS	molecular function
GO:0016324	apical plasma membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Vitamin B12 deficiency anaemia	KEGG:H01277
Vitamin B12 deficiency anaemia	KEGG:H01277
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq