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Q8IWF2 (FXRD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
FAD-dependent oxidoreductase domain-containing protein 2
Alternative name(s):
Endoplasmic reticulum flavoprotein associated with degradation
Gene names
Name:FOXRED2
Synonyms:ERFAD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length684 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable flavoprotein which may function in endoplasmic reticulum associated degradation (ERAD). May bind non-native proteins in the endoplasmic reticulum and target them to the ubiquitination machinery for subsequent degradation. Ref.7

Cofactor

FAD.

Subunit structure

Interacts with SEL1L. May interact with OS9 and DNAJC10. Ref.7

Subcellular location

Endoplasmic reticulum lumen Ref.7.

Post-translational modification

N-glycosylated. Ref.7

Sequence similarities

Belongs to the FOXRED2 family.

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
   LigandFAD
Flavoprotein
   Molecular functionOxidoreductase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processER-associated ubiquitin-dependent protein catabolic process

Inferred from mutant phenotype Ref.7. Source: UniProtKB

   Cellular_componentendoplasmic reticulum lumen

Inferred from direct assay Ref.7. Source: UniProtKB

   Molecular_functionflavin adenine dinucleotide binding

Inferred from direct assay Ref.7. Source: UniProtKB

oxidoreductase activity

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction Ref.7. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IWF2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8IWF2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-327: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 684658FAD-dependent oxidoreductase domain-containing protein 2
PRO_0000337692

Regions

Motif681 – 6844Prevents secretion from ER Potential

Amino acid modifications

Glycosylation1431N-linked (GlcNAc...) Ref.6

Natural variations

Alternative sequence1 – 327327Missing in isoform 2.
VSP_033997
Natural variant711R → C.
Corresponds to variant rs56767103 [ dbSNP | Ensembl ].
VAR_062247
Natural variant1791F → L. Ref.1 Ref.5
Corresponds to variant rs760718 [ dbSNP | Ensembl ].
VAR_043704
Natural variant3081N → S. Ref.1 Ref.4 Ref.5
Corresponds to variant rs2277841 [ dbSNP | Ensembl ].
VAR_043705
Natural variant3741K → R.
Corresponds to variant rs35813894 [ dbSNP | Ensembl ].
VAR_043706
Natural variant6371E → D.
Corresponds to variant rs35748020 [ dbSNP | Ensembl ].
VAR_043707

Experimental info

Sequence conflict3451F → S in BAB15610. Ref.2
Sequence conflict6071T → A in BAB15227. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 8209FFAF6289DDAF

FASTA68477,791
        10         20         30         40         50         60 
MGLSAAAPLW GPPGLLLAIA LHPALSVPPR RDYCVLGAGP AGLQMAYFLQ RAGRDYAVFE 

        70         80         90        100        110        120 
RAPRPGSFFT RYPRHRKLIS INKRYTGKAN AEFNLRHDWN SLLSHDPRLL FRHYSRAYFP 

       130        140        150        160        170        180 
DARDMVRYLG DFADTLGLRV QYNTTIAHVT LDKDRQAWNG HYFILTDQKG QVHQCSVLFV 

       190        200        210        220        230        240 
ATGLSVPNQV DFPGSEYAEG YESVSVDPED FVGQNVLILG RGNSAFETAE NILGVTNFIH 

       250        260        270        280        290        300 
MLSRSRVRLS WATHYVGDLR AINNGLLDTY QLKSLDGLLE SDLTDLAILK DSKGKFHVTP 

       310        320        330        340        350        360 
KFFLEEANTN QSADSITLPQ DDNDNFAMRV PYDRVIRCLG WNFDFSIFNK SLRLNSGNAF 

       370        380        390        400        410        420 
GKKYPLIRAS YESKGSRGLF ILGTASHSVD YRKSAGGFIH GFRYTVRAVH RLLEHRHHSV 

       430        440        450        460        470        480 
TWPATELPIT QLTSSIVRRV NEASGLYQMF GVLADVILLK ENSTAFEYLE EFPIQMLAQL 

       490        500        510        520        530        540 
ETLTGRKAKH GLFVINMEYG RNFSGPDKDV FFDDRSVGHT EDAWQSNFLH PVIYYYRYLP 

       550        560        570        580        590        600 
TEQEVRFRPA HWPLPRPTAI HHIVEDFLTD WTAPIGHILP LRRFLENCLD TDLRSFYAES 

       610        620        630        640        650        660 
CFLFALTRQK LPPFCQQGYL RMQGLVSTES LWQHRVESRL LRDYAPTGRR LEDSSQQLGD 

       670        680 
QEPLGSPLAP GPLAQSVDSN KEEL 

« Hide

Isoform 2 [UniParc].

Checksum: 14C82B1E14D54A0A
Show »

FASTA35741,157

References

« Hide 'large scale' references
[1]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS LEU-179 AND SER-308.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Placenta.
[3]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-308.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS LEU-179 AND SER-308.
Tissue: Brain, Colon and Eye.
[6]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-143.
Tissue: Liver.
[7]"A luminal flavoprotein in endoplasmic reticulum-associated degradation."
Riemer J., Appenzeller-Herzog C., Johansson L., Bodenmiller B., Hartmann-Petersen R., Ellgaard L.
Proc. Natl. Acad. Sci. U.S.A. 106:14831-14836(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, FAD-BINDING, GLYCOSYLATION, SUBCELLULAR LOCATION, INTERACTION WITH DNAJC10; OS9 AND SEL1L.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
CR456444 mRNA. Translation: CAG30330.1.
AK025714 mRNA. Translation: BAB15227.1.
AK026975 mRNA. Translation: BAB15610.1.
AK315555 mRNA. Translation: BAG37931.1.
AL022313 Genomic DNA. Translation: CAI19228.1.
CH471095 Genomic DNA. Translation: EAW60106.1.
BC015726 mRNA. Translation: AAH15726.1.
BC027716 mRNA. Translation: AAH27716.1.
BC040351 mRNA. Translation: AAH40351.1.
CCDSCCDS13929.1. [Q8IWF2-1]
RefSeqNP_001095841.1. NM_001102371.1. [Q8IWF2-1]
NP_079231.4. NM_024955.5. [Q8IWF2-1]
UniGeneHs.387601.

3D structure databases

ProteinModelPortalQ8IWF2.
SMRQ8IWF2. Positions 28-232.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123074. 7 interactions.
DIPDIP-48946N.
STRING9606.ENSP00000216187.

PTM databases

PhosphoSiteQ8IWF2.

Polymorphism databases

DMDM74759632.

Proteomic databases

MaxQBQ8IWF2.
PaxDbQ8IWF2.
PRIDEQ8IWF2.

Protocols and materials databases

DNASU80020.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000216187; ENSP00000216187; ENSG00000100350. [Q8IWF2-1]
ENST00000397223; ENSP00000380400; ENSG00000100350. [Q8IWF2-1]
ENST00000397224; ENSP00000380401; ENSG00000100350. [Q8IWF2-1]
GeneID80020.
KEGGhsa:80020.
UCSCuc003apn.4. human. [Q8IWF2-1]

Organism-specific databases

CTD80020.
GeneCardsGC22M036883.
H-InvDBHIX0203159.
HGNCHGNC:26264. FOXRED2.
HPAHPA031611.
HPA031612.
MIM613777. gene.
neXtProtNX_Q8IWF2.
PharmGKBPA145148808.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG303889.
HOGENOMHOG000031485.
HOVERGENHBG100868.
InParanoidQ8IWF2.
OMAQAWNGHY.
OrthoDBEOG7M6D70.
PhylomeDBQ8IWF2.
TreeFamTF324712.

Gene expression databases

ArrayExpressQ8IWF2.
BgeeQ8IWF2.
CleanExHS_FOXRED2.
GenevestigatorQ8IWF2.

Family and domain databases

PROSITEPS00014. ER_TARGET. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi80020.
NextBio70142.
PROQ8IWF2.
SOURCESearch...

Entry information

Entry nameFXRD2_HUMAN
AccessionPrimary (citable) accession number: Q8IWF2
Secondary accession number(s): B2RDI4 expand/collapse secondary AC list , Q8N378, Q96BD1, Q9H5L5, Q9H6M8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM