CUBN - cubilin Gene

Also Known as IGS; IFCR; IGS1; MGA1; gp280

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8029

About CUBN

Cytogenetic location: 10p13 Genomic coordinates (GRCh38): 10:16,823,966-17,129,811 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues, 35 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 65.4) and small intestine (RPKM 9.4).

Summary

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 autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]

CUBN Products (1)

mRNA	Protein	Name
NM_001081.4	NP_001072.2	cubilin precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cargo receptor activity	EXP EXP: Inferred from Experiment	14576052	GOA
enables cargo receptor activity	IDA IDA: Inferred from direct assay	14576052	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14576052	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	10552972	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cobalamin metabolic process	IDA IDA: Inferred from direct assay	14576052	GOA
involved in cobalamin transport	IDA IDA: Inferred from direct assay	14576052	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	14576052	GOA
located in endocytic vesicle	IDA IDA: Inferred from direct assay	14576052	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	21082674	GOA
located in membrane	IDA IDA: Inferred from direct assay	14576052	GOA
is active in microvillus membrane	IDA IDA: Inferred from direct assay	14576052	GOA
part of receptor complex	IPI IPI: Inferred from physical interaction	30523278	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CUBN Protein Structure

EGF

EGF_CA

EGF_3

EGF

CUB

0
600
1200
1800
2400
3000
3623 a.a.

Protein Preferred Names	Protein Names
cubilin	460 kDa receptor

CUBN Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83121	Cubilin Antibody (YA2866)	WB, IHC-P	Human

Related Diseases

Diseases	Alias
Imerslund-Grasbeck Syndrome 1	Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria IGS1 Megaloblastic Anemia, Finnish Type Mga1 Enterocyte Cobalamin Malabsorption Imerslund-Grasbeck Syndrome Type 1 Megaloblastic Anemia, 1 Enterocyte Intrinsic Factor Receptor, Defect Of Defect Of Enterocyte Intrinsic Factor Receptor Megaloblastic Anemia 1
Proteinuria, Chronic Benign	PROCHOB
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Cystinosis	Cystine Storage Disease Cystine Diathesis Cystine Disease Cystinoses Protein Defect Of Cystin Transport Cystin Transport, Protein Defect Of Nephropathic Cystinosis Protein Defect Of Cystine Transport
Donnai-Barrow Syndrome	Faciooculoacousticorenal Syndrome Dbs/Foar Syndrome Foar Syndrome Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome Facio-Oculo-Acoustico-Renal Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome Holmes-Schepens Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness DBS Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss Donnai Barrow Syndrome
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Fanconi-Like Syndrome	Fanconi Like Syndrome
Congenital Intrinsic Factor Deficiency	Hereditary Intrinsic Factor Deficiency Intrinsic Factor Deficiency Congenital Pernicious Anemia Gastric Intrinsic Factor Deficiency Hereditary Juvenile Megaloblastic Anemia Due To Intrinsic Factor Deficiency Ifd Intrinsic Factor Deficiency, Congenital, Susceptibility To Congenital Deficiency Of Intrinsic Factor Megaloblastic Anemia Due To Inborn Errors Of Metabolism
Chylomicron Retention Disease	CMRD Anderson Disease Lipid Transport Defect Of Intestine Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells Andd Anderson Syndrome Crd Andersons Disease Malabsorption Syndrome
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Vitamin Metabolic Disorder
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Gamma Heavy Chain Disease	Franklin Disease Franklin'S Disease Gamma Heavy Chain Deposition Disease Igg Heavy Chain Disease Gamma-Heavy Chain Disease Gamma-Hcd Gamma-Chain Disease
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Microphthalmia, Isolated 5	Isolated Microphthalmia 5 MCOP5 Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome Microphthalmia, Isolated, 5 Microphthalmia Mfrp-Related Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen Microphthalmia, Isolated, Type 5
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Tropical Sprue	Tropical Steatorrhea Tropical Enteropathy Sprue, Tropical Sprue - Tropical Idiopathic Tropical Malabsorption Syndrome Tropical Steatorrhoea Tropical Diarrhoea Ts - [Tropical Sprue] Psilosis Sprue Nos
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic Rickets X-Linked Recessive Hypophosphatemic Rickets XLRHR Hypophosphatemic Rickets Disorders Rickets Hypophosphatemic Rickets, Hypophosphatemic, X-Linked Recessive Familial Hypophosphatemic Rickets
Nanophthalmos	Nanophthalmia
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03356	CUBN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CUBN	VGNC	VGNC:27828
Mus musculus	CUBN	MGD	MGI:1931256
Macaca mulatta	CUBN	VGNC	VGNC:82132
Rattus norvegicus	CUBN	RGD	RGD:68355
Felis catus	CUBN	VGNC	VGNC:61279
Canis familiaris	CUBN	VGNC	VGNC:39725
Others	CUBN	NCBI