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Reviewed, UniProtKB/Swiss-Prot Q92636 (FAN_HUMAN)

Last modified June 16, 2009. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Protein FAN
Alternative name(s):
    Factor associated with neutral sphingomyelinase activation
      Short name=Factor associated with N-SMase activation
Gene names
Name: NSMAF
Synonyms: FAN
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length917 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at transcript level.

General annotation (Comments)

Function

Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE.

Tissue specificity

Ubiquitous.

Sequence similarities

Contains 1 BEACH domain.

Contains 1 GRAM domain.

Contains 6 WD repeats.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DomainRepeat
WD repeat
Gene Ontology (GO)
   Biological processceramide metabolic process Ref.1

Traceable author statement. Source: ProtInc

signal transduction Ref.1

Traceable author statement. Source: ProtInc

   Cellular componentcytoplasm Ref.1

Traceable author statement. Source: ProtInc

soluble fraction Ref.1

Traceable author statement. Source: ProtInc

   Molecular functionreceptor signaling protein activity Ref.1

Traceable author statement. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 917917Protein FAN
PRO_0000050975

Regions

Domain176 – 24772GRAM
Domain290 – 575286BEACH
Repeat628 – 65831WD 1
Repeat670 – 70031WD 2
Repeat712 – 74029WD 3
Repeat761 – 79131WD 4
Repeat803 – 83331WD 5
Repeat884 – 91431WD 6
Compositional bias23 – 286Poly-Leu

Natural variations

Natural variant6261Y → C: dbSNP rs2228505.
VAR_047023
Natural variant8501R → T: dbSNP rs1131173. Ref.1
VAR_047024

Sequences

Sequence LengthMass (Da)Tools
Q92636-1 [UniParc].

Last modified October 14, 2008. Version 2.
Checksum: 36498B5A1378E49C

FASTA917104,372
        10         20         30         40         50         60 
MAFIRKKQQE QQLQLYSKER FSLLLLNLEE YYFEQHRANH ILHKGSHHER KIRGSLKICS 

        70         80         90        100        110        120 
KSVIFEPDSI SQPIIKIPLR DCIKIGKHGE NGANRHFTKA KSGGISLIFS QVYFIKEHNV 

       130        140        150        160        170        180 
VAPYKIERGK MEYVFELDVP GKVEDVVETL LQLHRASCLD KLGDQTAMIT AILQSRLART 

       190        200        210        220        230        240 
SFDKNRFQNI SEKLHMECKA EMVTPLVTNP GHVCITDTNL YFQPLNGYPK PVVQITLQDV 

       250        260        270        280        290        300 
RRIYKRRHGL MPLGLEVFCT EDDLCSDIYL KFYEPQDRDD LYFYIATYLE HHVAEHTAES 

       310        320        330        340        350        360 
YMLQWQRGHL SNYQYLLHLN NLADRSCNDL SQYPVFPWII HDYSSSELDL SNPGTFRDLS 

       370        380        390        400        410        420 
KPVGALNKER LERLLTRYQE MPEPKFMYGS HYSSPGYVLF YLVRIAPEYM LCLQNGRFDN 

       430        440        450        460        470        480 
ADRMFNSIAE TWKNCLDGAT DFKELIPEFY GDDVSFLVNS LKLDLGKRQG GQMVDDVELP 

       490        500        510        520        530        540 
PWASSPEDFL QKSKDALESN YVSEHLHEWI DLIFGYKQKG SDAVGAHNVF HPLTYEGGVD 

       550        560        570        580        590        600 
LNSIQDPDEK VAMLTQILEF GQTPKQLFVT PHPRRITPKF KSLSQTSSYN ASMADSPGEE 

       610        620        630        640        650        660 
SFEDLTEESK TLAWNNITKL QLHEHYKIHK EAVTGITVSR NGSSVFTTSQ DSTLKMFSKE 

       670        680        690        700        710        720 
SKMLQRSISF SNMALSSCLL LPGDATVITS SWDNNVYFYS IAFGRRQDTL MGHDDAVSKI 

       730        740        750        760        770        780 
CWHDNRLYSA SWDSTVKVWS GVPAEMPGTK RHHFDLLAEL EHDVSVDTIS LNAASTLLVS 

       790        800        810        820        830        840 
GTKEGTVNIW DLTTATLMHQ IPCHSGIVCD TAFSPDSRHV LSTGTDGCLN VIDVQTGMLI 

       850        860        870        880        890        900 
SSMTSDEPQR CFVWDGNSVL SGSQSGELLV WDLLGAKISE RIQGHTGAVT CIWMNEQCSS 

       910 
IITGGEDRQI IFWKLQY 

« Hide

References

« Hide 'large scale' references
[1]"FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase."
Adam-Klages S., Adam D., Wiegmann K., Struve S., Kolanus W., Schneider-Mergener J., Kroenke M.
Cell 86:937-947(1996) [PubMed: 8808629] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-850.
Tissue: Muscle.
[2]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].
[3]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Uterus.
+Additional computationally mapped references.

Cross-references

Sequence databases

X96586 mRNA. Translation: CAA65405.1.
CH471068 Genomic DNA. Translation: EAW86817.1.
BC041124 mRNA. Translation: AAH41124.1.
IPIIPI00328260.
RefSeqNP_003571.2.
UniGeneHs.372000

3D structure databases

HSSPHSSP built from PDB template 1MI1 based on UniProtKB Q8NFP9.
ModBaseSearch...

Proteomic databases

PRIDEQ92636.

Genome annotation databases

EnsemblENSG00000035681. Homo sapiens. [Contig view]
GeneID8439.
KEGGhsa:8439.

Organism-specific databases

GeneCardsGC08M059658.
H-InvDBHIX0007527.
HGNCHGNC:8017. NSMAF.
MIM603043. gene.
PharmGKBPA31795.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ92636.
HOVERGENQ92636.
OMAQ92636. FDKNRFQ.

Enzyme and pathway databases

Pathway_Interaction_DBtnfpathway. TNF receptor signaling pathway.

Gene expression databases

ArrayExpressQ92636.
BgeeQ92636.
CleanExHS_NSMAF.
GermOnlineENSG00000035681. Homo sapiens.

Family and domain databases

InterProIPR000409. Beige_BEACH.
IPR004182. GRAM.
IPR015943. WD40/YVTN_repeat-like.
IPR001680. WD40_repeat.
IPR019782. WD40_repeat_2.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_region.
IPR019781. WD40_repeat_sg.
[Graphical view]
Gene3DG3DSA:1.10.1540.10. Beige_BEACH. 1 hit.
G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
PfamPF02138. Beach. 1 hit.
PF02893. GRAM. 1 hit.
PF00400. WD40. 4 hits.
[Graphical view]
ProDomPD000018. WD40. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00568. GRAM. 1 hit.
SM00320. WD40. 7 hits.
[Graphical view]
PROSITEPS50197. BEACH. 1 hit.
PS00678. WD_REPEATS_1. False negative.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

SOURCESearch...

Entry information

Entry nameFAN_HUMAN
AccessionPrimary (citable) accession number: Q92636
Secondary accession number(s): Q8IW26
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: October 14, 2008
Last modified: June 16, 2009
This is version 71 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents