ENSG00000134812


Homo sapiens

Features
Gene ID: ENSG00000134812
  
Biological name :GIF
  
Synonyms : gastric intrinsic factor / GIF / P27352
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q12.1
Gene start: 59829268
Gene end: 59845501
  
Corresponding Affymetrix probe sets: 207033_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000257248
Ensembl peptide - ENSP00000433196
NCBI entrez gene - 2694     See in Manteia.
OMIM - 609342
RefSeq - NM_005142
RefSeq - XM_011544939
RefSeq Peptide - NP_005133
swissprot - E9PM21
swissprot - P27352
Ensembl - ENSG00000134812
  
Related genetic diseases (OMIM): 261000 - Intrinsic factor deficiency, 261000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 GifENSMUSG00000024682Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TCN1 / P20061 / transcobalamin 1ENSG0000013482730
TCN2 / P20062 / transcobalamin 2ENSG0000018533925


Protein motifs (from Interpro)
Interpro ID Name
 IPR002157  Cobalamin (vitamin B12)-binding protein
 IPR027954  Domain of unknown function DUF4430


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006824 cobalt ion transport IEA
 biological_processGO:0009235 cobalamin metabolic process TAS
 biological_processGO:0015889 cobalamin transport IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005768 endosome TAS
 cellular_componentGO:0005902 microvillus IDA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0043202 lysosomal lumen TAS
 molecular_functionGO:0031419 cobalamin binding IDA


Pathways (from Reactome)
Pathway description
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective GIF causes intrinsic factor deficiency
Defective AMN causes hereditary megaloblastic anemia 1
Defective CUBN causes hereditary megaloblastic anemia 1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001889 Megaloblastic anemia 
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 HP:0001939 Metabolism abnormality 
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 HP:0002024 Malabsorption 
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 HP:0002715 Immunological abnormality 
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 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
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 HP:0003474 Sensory impairment 
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 HP:0003621 Juvenile onset 
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 HP:0005219 Absence of intrinsic factor by immunoassay of gastric juices 
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 HP:0005518 Erythrocyte macrocytosis 
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 HP:0200118 Malabsorption of Vitamin B12 
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 HP:0200143 Megaloblastic erythroid hyperplasia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000166126 AMN / Q9BXJ7 / amnion associated transmembrane protein  / complex / reaction
 ENSG00000107611 CUBN / O60494 / cubilin  / complex / reaction






 

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