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Q92636

- FAN_HUMAN

UniProt

Q92636 - FAN_HUMAN

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Protein
Protein FAN
Gene
NSMAF, FAN
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31795.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 917917Protein FAN
PRO_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.

Family & Domainsi

Domains and Repeats

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

Compositional bias

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

Sequence similaritiesi

Contains 1 BEACH domain.
Contains 1 GRAM domain.
Contains 6 WD repeats.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti626 – 6261Y → C.
Corresponds to variant rs2228505 [ dbSNP | Ensembl ].
VAR_047023
Natural varianti850 – 8501R → T.1 Publication
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.
VSP_042036Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti218 – 2181T → A in BAG57371. 1 Publication

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 121 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

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