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Showing Protein Gastric intrinsic factor (HMDBP01997)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 3 metabolites
Identification
HMDB Protein ID HMDBP01997
Secondary Accession Numbers
  • 7442
Name Gastric intrinsic factor
Synonyms
  1. IF
  2. INF
  3. Intrinsic factor
Gene Name GIF
Protein Type Transporter
Biological Properties
General Function Involved in cobalamin binding
Specific Function Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum by specific receptor-mediated endocytosis
Pathways Not Available
Reactions Not Available
GO Classification
Function
binding
cobalamin binding
vitamin binding
Process
establishment of localization
transport
vitamin transport
cobalamin transport
Cellular Location
  1. Secreted
Gene Properties
Chromosome Location Chromosome:1
Locus 11q13
SNPs GIF
Gene Sequence 
>1254 bp
ATGGCCTGGTTTGCCCTCTACCTCCTGAGCCTTCTCTGGGCTACAGCTGGGACTAGTACC
CAGACCCAGAGTTCATGCTCCGTTCCCTCAGCACAGGAGCCCTTGGTCAATGGAATACAA
GTACTCATGGAGAACTCGGTGACTTCATCAGCCTACCCAAACCCCAGCATCCTGATTGCC
ATGAATCTGGCCGGAGCCTACAACTTGAAGGCCCAGAAGCTCCTGACTTACCAGCTCATG
TCCAGCGACAACAACGATCTAACCATTGGGCAGCTCGGCCTCACCATCATGGCCCTCACC
TCCTCCTGCCGAGACCCTGGGGATAAAGTATCCATTCTACAAAGACAAATGGAGAACTGG
GCACCTTCCAGCCCCAACGCTGAAGCATCAGCCTTCTATGGGCCCAGTCTAGCGATCTTG
GCACTGTGCCAGAAGAACTCTGAGGCGACCTTGCCGATAGCCGTCCGCTTTGCCAAGACC
CTGCTGGCCAACTCCTCTCCCTTCAATGTAGACACAGGAGCAATGGCAACCTTGGCTCTG
ACCTGTATGTACAACAAGATCCCTGTAGGTTCAGAGGAAGGTTACAGATCCCTGTTTGGT
CAGGTACTAAAGGATATTGTGGAGAAAATCAGCATGAAGATCAAAGATAATGGCATCATT
GGAGACATCTACAGTACTGGCCTCGCCATGCAGGCTCTCTCTGTAACACCTGAGCCATCT
AAAAAGGAATGGAACTGCAAGAAGACTACGGATATGATACTCAATGAGATTAAGCAGGGG
AAATTCCACAACCCCATGTCCATTGCTCAAATCCTCCCTTCCCTGAAAGGCAAGACATAC
CTAGATGTGCCCCAGGTCACTTGTAGTCCTGATCATGAGGTACAACCAACTCTACCCAGC
AACCCTGGCCCTGGCCCCACCTCTGCATCTAACATCACTGTCATATACACCATAAATAAC
CAGCTGAGGGGGGTTGAGCTGCTCTTCAACGAGACCATCAATGTTAGTGTGAAAAGTGGG
TCAGTGTTACTTGTTGTCCTAGAGGAAGCACAGCGCAAAAATCCTATGTTCAAATTTGAA
ACCACAATGACATCTTGGGGCCTTGTCGTCTCTTCTATCAACAATATCGCGGAAAATGTT
AATCACAAGACATACTGGCAGTTTCTTAGTGGTGTAACACCTTTGAATGAAGGGGTTGCT
GACTACATACCCTTCAACCACGAGCACATCACAGCCAATTTCACACAGTACTAA
Protein Properties
Number of Residues 417
Molecular Weight 45415.7
Theoretical pI 6.04
Pfam Domain Function
Signals
  • 1-18
Transmembrane Regions
  • None
Protein Sequence 
>Gastric intrinsic factor
MAWFALYLLSLLWATAGTSTQTQSSCSVPSAQEPLVNGIQVLMENSVTSSAYPNPSILIA
MNLAGAYNLKAQKLLTYQLMSSDNNDLTIGQLGLTIMALTSSCRDPGDKVSILQRQMENW
APSSPNAEASAFYGPSLAILALCQKNSEATLPIAVRFAKTLLANSSPFNVDTGAMATLAL
TCMYNKIPVGSEEGYRSLFGQVLKDIVEKISMKIKDNGIIGDIYSTGLAMQALSVTPEPS
KKEWNCKKTTDMILNEIKQGKFHNPMSIAQILPSLKGKTYLDVPQVTCSPDHEVQPTLPS
NPGPGPTSASNITVIYTINNQLRGVELLFNETINVSVKSGSVLLVVLEEAQRKNPMFKFE
TTMTSWGLVVSSINNIAENVNHKTYWQFLSGVTPLNEGVADYIPFNHEHITANFTQY
GenBank ID Protein 23958689
UniProtKB/Swiss-Prot ID P27352
UniProtKB/Swiss-Prot Entry Name IF_HUMAN
PDB IDs Not Available
GenBank Gene ID BC037958
GeneCard ID GIF
GenAtlas ID GIF
HGNC ID HGNC:4268
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Hewitt JE, Gordon MM, Taggart RT, Mohandas TK, Alpers DH: Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11. Genomics. 1991 Jun;10(2):432-40. [PubMed:2071148 ]
  3. Gordon MM, Brada N, Remacha A, Badell I, del Rio E, Baiget M, Santer R, Quadros EV, Rothenberg SP, Alpers DH: A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. Hum Mutat. 2004 Jan;23(1):85-91. [PubMed:14695536 ]
  4. Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Grasbeck R, de la Chapelle A: Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4130-3. Epub 2005 Feb 28. [PubMed:15738392 ]