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Q92636

- FAN_HUMAN

UniProt

Q92636 - FAN_HUMAN

Protein

Protein FAN

Gene

NSMAF

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 2 (14 Oct 2008)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. receptor signaling protein activity Source: ProtInc
    3. sphingomyelin phosphodiesterase activator activity Source: Ensembl

    GO - Biological processi

    1. ceramide metabolic process Source: ProtInc
    2. intracellular signal transduction Source: GOC
    3. positive regulation of apoptotic process Source: Ensembl
    4. signal transduction Source: ProtInc

    Enzyme and pathway databases

    SignaLinkiQ92636.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAN
    Alternative name(s):
    Factor associated with neutral sphingomyelinase activation
    Short name:
    Factor associated with N-SMase activation
    Gene namesi
    Name:NSMAF
    Synonyms:FAN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:8017. NSMAF.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: ProtInc

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31795.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 917917Protein FANPRO_0000050975Add
    BLAST

    Proteomic databases

    MaxQBiQ92636.
    PaxDbiQ92636.
    PRIDEiQ92636.

    PTM databases

    PhosphoSiteiQ92636.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiQ92636.
    BgeeiQ92636.
    CleanExiHS_NSMAF.
    GenevestigatoriQ92636.

    Organism-specific databases

    HPAiHPA023067.
    HPA023148.
    HPA023151.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACTBP607092EBI-2947053,EBI-353944
    GABARAPO951662EBI-2947053,EBI-712001
    GABARAPL1Q9H0R86EBI-2947053,EBI-746969
    VASPP505522EBI-2947053,EBI-748201

    Protein-protein interaction databases

    BioGridi114019. 11 interactions.
    IntActiQ92636. 13 interactions.
    MINTiMINT-2813141.
    STRINGi9606.ENSP00000411012.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92636.
    SMRiQ92636. Positions 200-575, 580-916.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini176 – 24772GRAMAdd
    BLAST
    Domaini290 – 575286BEACHPROSITE-ProRule annotationAdd
    BLAST
    Repeati628 – 65831WD 1Add
    BLAST
    Repeati670 – 70031WD 2Add
    BLAST
    Repeati712 – 74029WD 3Add
    BLAST
    Repeati761 – 79131WD 4Add
    BLAST
    Repeati803 – 83331WD 5Add
    BLAST
    Repeati884 – 91431WD 6Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi23 – 286Poly-Leu

    Sequence similaritiesi

    Contains 1 BEACH domain.PROSITE-ProRule annotation
    Contains 1 GRAM domain.Curated
    Contains 6 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000231605.
    HOVERGENiHBG005639.
    InParanoidiQ92636.
    OMAiDVQTGML.
    OrthoDBiEOG70CR68.
    PhylomeDBiQ92636.
    TreeFamiTF324912.

    Family and domain databases

    Gene3Di1.10.1540.10. 1 hit.
    2.130.10.10. 1 hit.
    2.30.29.40. 1 hit.
    InterProiIPR000409. BEACH_dom.
    IPR004182. GRAM.
    IPR023362. PH-BEACH_dom.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF02138. Beach. 1 hit.
    PF02893. GRAM. 1 hit.
    PF00400. WD40. 3 hits.
    [Graphical view]
    SMARTiSM01026. Beach. 1 hit.
    SM00568. GRAM. 1 hit.
    SM00320. WD40. 7 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    SSF81837. SSF81837. 1 hit.
    PROSITEiPS50197. BEACH. 1 hit.
    PS50082. WD_REPEATS_2. 4 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q92636-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAFIRKKQQE QQLQLYSKER FSLLLLNLEE YYFEQHRANH ILHKGSHHER    50
    KIRGSLKICS KSVIFEPDSI SQPIIKIPLR DCIKIGKHGE NGANRHFTKA 100
    KSGGISLIFS QVYFIKEHNV VAPYKIERGK MEYVFELDVP GKVEDVVETL 150
    LQLHRASCLD KLGDQTAMIT AILQSRLART SFDKNRFQNI SEKLHMECKA 200
    EMVTPLVTNP GHVCITDTNL YFQPLNGYPK PVVQITLQDV RRIYKRRHGL 250
    MPLGLEVFCT EDDLCSDIYL KFYEPQDRDD LYFYIATYLE HHVAEHTAES 300
    YMLQWQRGHL SNYQYLLHLN NLADRSCNDL SQYPVFPWII HDYSSSELDL 350
    SNPGTFRDLS KPVGALNKER LERLLTRYQE MPEPKFMYGS HYSSPGYVLF 400
    YLVRIAPEYM LCLQNGRFDN ADRMFNSIAE TWKNCLDGAT DFKELIPEFY 450
    GDDVSFLVNS LKLDLGKRQG GQMVDDVELP PWASSPEDFL QKSKDALESN 500
    YVSEHLHEWI DLIFGYKQKG SDAVGAHNVF HPLTYEGGVD LNSIQDPDEK 550
    VAMLTQILEF GQTPKQLFVT PHPRRITPKF KSLSQTSSYN ASMADSPGEE 600
    SFEDLTEESK TLAWNNITKL QLHEHYKIHK EAVTGITVSR NGSSVFTTSQ 650
    DSTLKMFSKE SKMLQRSISF SNMALSSCLL LPGDATVITS SWDNNVYFYS 700
    IAFGRRQDTL MGHDDAVSKI CWHDNRLYSA SWDSTVKVWS GVPAEMPGTK 750
    RHHFDLLAEL EHDVSVDTIS LNAASTLLVS GTKEGTVNIW DLTTATLMHQ 800
    IPCHSGIVCD TAFSPDSRHV LSTGTDGCLN VIDVQTGMLI SSMTSDEPQR 850
    CFVWDGNSVL SGSQSGELLV WDLLGAKISE RIQGHTGAVT CIWMNEQCSS 900
    IITGGEDRQI IFWKLQY 917
    Length:917
    Mass (Da):104,372
    Last modified:October 14, 2008 - v2
    Checksum:i36498B5A1378E49C
    GO
    Isoform 2 (identifier: Q92636-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-20: MAFIRKKQQEQQLQLYSKER → MTGQARFHRGAEACRAIRQCRSRRPRAAHPEGRAGSGRGSRHASPGVRRGG

    Note: No experimental confirmation available.

    Show »
    Length:948
    Mass (Da):107,314
    Checksum:i2682F63DEBDE1765
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti218 – 2181T → A in BAG57371. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti626 – 6261Y → C.
    Corresponds to variant rs2228505 [ dbSNP | Ensembl ].
    VAR_047023
    Natural varianti850 – 8501R → T.
    Corresponds to variant rs1131173 [ dbSNP | Ensembl ].
    VAR_047024

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2020MAFIR…YSKER → MTGQARFHRGAEACRAIRQC RSRRPRAAHPEGRAGSGRGS RHASPGVRRGG in isoform 2. 1 PublicationVSP_042036Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS47864.1. [Q92636-2]
    CCDS6173.1. [Q92636-1]
    RefSeqiNP_001138244.1. NM_001144772.1. [Q92636-2]
    NP_003571.2. NM_003580.3. [Q92636-1]
    UniGeneiHs.372000.

    Genome annotation databases

    EnsembliENST00000038176; ENSP00000038176; ENSG00000035681. [Q92636-1]
    ENST00000427130; ENSP00000411012; ENSG00000035681. [Q92636-2]
    GeneIDi8439.
    KEGGihsa:8439.
    UCSCiuc003xtt.3. human. [Q92636-1]
    uc011lee.2. human. [Q92636-2]

    Polymorphism databases

    DMDMi209572614.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS47864.1. [Q92636-2 ]
    CCDS6173.1. [Q92636-1 ]
    RefSeqi NP_001138244.1. NM_001144772.1. [Q92636-2 ]
    NP_003571.2. NM_003580.3. [Q92636-1 ]
    UniGenei Hs.372000.

    3D structure databases

    ProteinModelPortali Q92636.
    SMRi Q92636. Positions 200-575, 580-916.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114019. 11 interactions.
    IntActi Q92636. 13 interactions.
    MINTi MINT-2813141.
    STRINGi 9606.ENSP00000411012.

    PTM databases

    PhosphoSitei Q92636.

    Polymorphism databases

    DMDMi 209572614.

    Proteomic databases

    MaxQBi Q92636.
    PaxDbi Q92636.
    PRIDEi Q92636.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000038176 ; ENSP00000038176 ; ENSG00000035681 . [Q92636-1 ]
    ENST00000427130 ; ENSP00000411012 ; ENSG00000035681 . [Q92636-2 ]
    GeneIDi 8439.
    KEGGi hsa:8439.
    UCSCi uc003xtt.3. human. [Q92636-1 ]
    uc011lee.2. human. [Q92636-2 ]

    Organism-specific databases

    CTDi 8439.
    GeneCardsi GC08M059496.
    H-InvDB HIX0007527.
    HGNCi HGNC:8017. NSMAF.
    HPAi HPA023067.
    HPA023148.
    HPA023151.
    MIMi 603043. gene.
    neXtProti NX_Q92636.
    PharmGKBi PA31795.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000231605.
    HOVERGENi HBG005639.
    InParanoidi Q92636.
    OMAi DVQTGML.
    OrthoDBi EOG70CR68.
    PhylomeDBi Q92636.
    TreeFami TF324912.

    Enzyme and pathway databases

    SignaLinki Q92636.

    Miscellaneous databases

    ChiTaRSi NSMAF. human.
    GenomeRNAii 8439.
    NextBioi 31574.
    PROi Q92636.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92636.
    Bgeei Q92636.
    CleanExi HS_NSMAF.
    Genevestigatori Q92636.

    Family and domain databases

    Gene3Di 1.10.1540.10. 1 hit.
    2.130.10.10. 1 hit.
    2.30.29.40. 1 hit.
    InterProi IPR000409. BEACH_dom.
    IPR004182. GRAM.
    IPR023362. PH-BEACH_dom.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF02138. Beach. 1 hit.
    PF02893. GRAM. 1 hit.
    PF00400. WD40. 3 hits.
    [Graphical view ]
    SMARTi SM01026. Beach. 1 hit.
    SM00568. GRAM. 1 hit.
    SM00320. WD40. 7 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    SSF81837. SSF81837. 1 hit.
    PROSITEi PS50197. BEACH. 1 hit.
    PS50082. WD_REPEATS_2. 4 hits.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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.

    Entry informationi

    Entry nameiFAN_HUMAN
    AccessioniPrimary (citable) accession number: Q92636
    Secondary accession number(s): B4DFB0, E9PCH0, Q8IW26
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: October 14, 2008
    Last modified: October 1, 2014
    This is version 122 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3