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Q92636

- FAN_HUMAN

UniProt

Q92636 - FAN_HUMAN

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Protein

Protein FAN

Gene

NSMAF

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. receptor signaling protein activity Source: ProtInc
  2. 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
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 FANPRO_0000050975Add
BLAST

Proteomic databases

MaxQBiQ92636.
PaxDbiQ92636.
PRIDEiQ92636.

PTM databases

PhosphoSiteiQ92636.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiQ92636.
CleanExiHS_NSMAF.
ExpressionAtlasiQ92636. baseline and differential.
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. 12 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.
GeneTreeiENSGT00760000119083.
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

        10         20         30         40         50
MAFIRKKQQE QQLQLYSKER FSLLLLNLEE YYFEQHRANH ILHKGSHHER
60 70 80 90 100
KIRGSLKICS KSVIFEPDSI SQPIIKIPLR DCIKIGKHGE NGANRHFTKA
110 120 130 140 150
KSGGISLIFS QVYFIKEHNV VAPYKIERGK MEYVFELDVP GKVEDVVETL
160 170 180 190 200
LQLHRASCLD KLGDQTAMIT AILQSRLART SFDKNRFQNI SEKLHMECKA
210 220 230 240 250
EMVTPLVTNP GHVCITDTNL YFQPLNGYPK PVVQITLQDV RRIYKRRHGL
260 270 280 290 300
MPLGLEVFCT EDDLCSDIYL KFYEPQDRDD LYFYIATYLE HHVAEHTAES
310 320 330 340 350
YMLQWQRGHL SNYQYLLHLN NLADRSCNDL SQYPVFPWII HDYSSSELDL
360 370 380 390 400
SNPGTFRDLS KPVGALNKER LERLLTRYQE MPEPKFMYGS HYSSPGYVLF
410 420 430 440 450
YLVRIAPEYM LCLQNGRFDN ADRMFNSIAE TWKNCLDGAT DFKELIPEFY
460 470 480 490 500
GDDVSFLVNS LKLDLGKRQG GQMVDDVELP PWASSPEDFL QKSKDALESN
510 520 530 540 550
YVSEHLHEWI DLIFGYKQKG SDAVGAHNVF HPLTYEGGVD LNSIQDPDEK
560 570 580 590 600
VAMLTQILEF GQTPKQLFVT PHPRRITPKF KSLSQTSSYN ASMADSPGEE
610 620 630 640 650
SFEDLTEESK TLAWNNITKL QLHEHYKIHK EAVTGITVSR NGSSVFTTSQ
660 670 680 690 700
DSTLKMFSKE SKMLQRSISF SNMALSSCLL LPGDATVITS SWDNNVYFYS
710 720 730 740 750
IAFGRRQDTL MGHDDAVSKI CWHDNRLYSA SWDSTVKVWS GVPAEMPGTK
760 770 780 790 800
RHHFDLLAEL EHDVSVDTIS LNAASTLLVS GTKEGTVNIW DLTTATLMHQ
810 820 830 840 850
IPCHSGIVCD TAFSPDSRHV LSTGTDGCLN VIDVQTGMLI SSMTSDEPQR
860 870 880 890 900
CFVWDGNSVL SGSQSGELLV WDLLGAKISE RIQGHTGAVT CIWMNEQCSS
910
IITGGEDRQI IFWKLQY
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. 12 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.
GeneTreei ENSGT00760000119083.
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

Bgeei Q92636.
CleanExi HS_NSMAF.
ExpressionAtlasi Q92636. baseline and differential.
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: October 29, 2014
This is version 123 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