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Q92636 (FAN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 118. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

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) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length917 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92636-1)

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: Q92636-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MAFIRKKQQEQQLQLYSKER → MTGQARFHRGAEACRAIRQCRSRRPRAAHPEGRAGSGRGSRHASPGVRRGG
Note: No experimental confirmation available.

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

Alternative sequence1 – 2020MAFIR…YSKER → MTGQARFHRGAEACRAIRQC RSRRPRAAHPEGRAGSGRGS RHASPGVRRGG in isoform 2.
VSP_042036
Natural variant6261Y → C.
Corresponds to variant rs2228505 [ dbSNP | Ensembl ].
VAR_047023
Natural variant8501R → T. Ref.1
Corresponds to variant rs1131173 [ dbSNP | Ensembl ].
VAR_047024

Experimental info

Sequence conflict2181T → A in BAG57371. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 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

Isoform 2 [UniParc].

Checksum: 2682F63DEBDE1765
Show »

FASTA948107,314

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-850 (ISOFORM 1).
Tissue: Muscle.
[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] (ISOFORM 2).
Tissue: Cerebellum.
[3]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [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].
[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).
Tissue: Uterus.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X96586 mRNA. Translation: CAA65405.1.
AK294009 mRNA. Translation: BAG57371.1.
AC068522 Genomic DNA. No translation available.
AC092700 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW86817.1.
BC041124 mRNA. Translation: AAH41124.1.
RefSeqNP_001138244.1. NM_001144772.1.
NP_003571.2. NM_003580.3.
UniGeneHs.372000.

3D structure databases

ProteinModelPortalQ92636.
SMRQ92636. Positions 200-575, 642-916.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114019. 11 interactions.
IntActQ92636. 13 interactions.
MINTMINT-2813141.
STRING9606.ENSP00000411012.

PTM databases

PhosphoSiteQ92636.

Polymorphism databases

DMDM209572614.

Proteomic databases

PaxDbQ92636.
PRIDEQ92636.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000038176; ENSP00000038176; ENSG00000035681. [Q92636-1]
ENST00000427130; ENSP00000411012; ENSG00000035681. [Q92636-2]
GeneID8439.
KEGGhsa:8439.
UCSCuc003xtt.3. human. [Q92636-1]
uc011lee.2. human. [Q92636-2]

Organism-specific databases

CTD8439.
GeneCardsGC08M059496.
H-InvDBHIX0007527.
HGNCHGNC:8017. NSMAF.
HPAHPA023067.
HPA023148.
HPA023151.
MIM603043. gene.
neXtProtNX_Q92636.
PharmGKBPA31795.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000231605.
HOVERGENHBG005639.
InParanoidQ92636.
OMADVQTGML.
OrthoDBEOG70CR68.
PhylomeDBQ92636.
TreeFamTF324912.

Enzyme and pathway databases

SignaLinkQ92636.

Gene expression databases

ArrayExpressQ92636.
BgeeQ92636.
CleanExHS_NSMAF.
GenevestigatorQ92636.

Family and domain databases

Gene3D1.10.1540.10. 1 hit.
2.130.10.10. 1 hit.
2.30.29.40. 1 hit.
InterProIPR000409. BEACH_dom.
IPR004182. GRAM.
IPR023362. PH-BEACH_dom.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF02138. Beach. 1 hit.
PF02893. GRAM. 1 hit.
PF00400. WD40. 3 hits.
[Graphical view]
SMARTSM01026. Beach. 1 hit.
SM00568. GRAM. 1 hit.
SM00320. WD40. 7 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
SSF81837. SSF81837. 1 hit.
PROSITEPS50197. BEACH. 1 hit.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNSMAF. human.
GenomeRNAi8439.
NextBio31574.
PROQ92636.
SOURCESearch...

Entry information

Entry nameFAN_HUMAN
AccessionPrimary (citable) accession number: Q92636
Secondary accession number(s): B4DFB0, E9PCH0, Q8IW26
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: October 14, 2008
Last modified: April 16, 2014
This is version 118 of the entry and version 2 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 8

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