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Protein

Protein FAN

Gene

NSMAF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

  • ceramide metabolic process Source: ProtInc
  • positive regulation of apoptotic process Source: Ensembl
  • positive regulation of ceramide biosynthetic process Source: Reactome
  • signal transduction Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000035681-MONOMER.
ReactomeiR-HSA-5626978. TNFR1-mediated ceramide production.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:8017. NSMAF.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: ProtInc
  • cytosol Source: Reactome
  • endomembrane system Source: GO_Central
  • extrinsic component of membrane Source: GO_Central
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi8439.
OpenTargetsiENSG00000035681.
PharmGKBiPA31795.

Polymorphism and mutation databases

BioMutaiNSMAF.
DMDMi209572614.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000509751 – 917Protein FANAdd BLAST917

Proteomic databases

EPDiQ92636.
MaxQBiQ92636.
PaxDbiQ92636.
PeptideAtlasiQ92636.
PRIDEiQ92636.

PTM databases

iPTMnetiQ92636.
PhosphoSitePlusiQ92636.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000035681.
CleanExiHS_NSMAF.
ExpressionAtlasiQ92636. baseline and differential.
GenevisibleiQ92636. HS.

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. 32 interactors.
DIPiDIP-44106N.
IntActiQ92636. 25 interactors.
MINTiMINT-2813141.
STRINGi9606.ENSP00000411012.

Structurei

3D structure databases

ProteinModelPortaliQ92636.
SMRiQ92636.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini176 – 247GRAMAdd BLAST72
Domaini189 – 286BEACH-type PHPROSITE-ProRule annotationAdd BLAST98
Domaini290 – 575BEACHPROSITE-ProRule annotationAdd BLAST286
Repeati628 – 658WD 1Add BLAST31
Repeati670 – 700WD 2Add BLAST31
Repeati712 – 740WD 3Add BLAST29
Repeati761 – 791WD 4Add BLAST31
Repeati803 – 833WD 5Add BLAST31
Repeati884 – 914WD 6Add BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi23 – 28Poly-Leu6

Sequence similaritiesi

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

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1786. Eukaryota.
ENOG410XNQC. LUCA.
GeneTreeiENSGT00760000119083.
HOGENOMiHOG000231605.
HOVERGENiHBG005639.
InParanoidiQ92636.
KOiK18953.
OMAiAPYKIER.
OrthoDBiEOG091G01X8.
PhylomeDBiQ92636.
TreeFamiTF324912.

Family and domain databases

CDDicd06071. Beach. 1 hit.
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.
IPR011993. PH_dom-like.
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]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF50978. SSF50978. 1 hit.
SSF81837. SSF81837. 1 hit.
PROSITEiPS50197. BEACH. 1 hit.
PS51783. PH_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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti218T → A in BAG57371 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047023626Y → C.Corresponds to variant rs2228505dbSNPEnsembl.1
Natural variantiVAR_047024850R → T.Corresponds to variant rs1131173dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0420361 – 20MAFIR…YSKER → MTGQARFHRGAEACRAIRQC RSRRPRAAHPEGRAGSGRGS RHASPGVRRGG in isoform 2. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human. [Q92636-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ92636.
SMRiQ92636.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114019. 32 interactors.
DIPiDIP-44106N.
IntActiQ92636. 25 interactors.
MINTiMINT-2813141.
STRINGi9606.ENSP00000411012.

PTM databases

iPTMnetiQ92636.
PhosphoSitePlusiQ92636.

Polymorphism and mutation databases

BioMutaiNSMAF.
DMDMi209572614.

Proteomic databases

EPDiQ92636.
MaxQBiQ92636.
PaxDbiQ92636.
PeptideAtlasiQ92636.
PRIDEiQ92636.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000038176; ENSP00000038176; ENSG00000035681. [Q92636-1]
ENST00000427130; ENSP00000411012; ENSG00000035681. [Q92636-2]
GeneIDi8439.
KEGGihsa:8439.
UCSCiuc003xtt.4. human. [Q92636-1]

Organism-specific databases

CTDi8439.
DisGeNETi8439.
GeneCardsiNSMAF.
H-InvDBHIX0007527.
HGNCiHGNC:8017. NSMAF.
HPAiHPA023067.
HPA023148.
HPA023151.
MIMi603043. gene.
neXtProtiNX_Q92636.
OpenTargetsiENSG00000035681.
PharmGKBiPA31795.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1786. Eukaryota.
ENOG410XNQC. LUCA.
GeneTreeiENSGT00760000119083.
HOGENOMiHOG000231605.
HOVERGENiHBG005639.
InParanoidiQ92636.
KOiK18953.
OMAiAPYKIER.
OrthoDBiEOG091G01X8.
PhylomeDBiQ92636.
TreeFamiTF324912.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000035681-MONOMER.
ReactomeiR-HSA-5626978. TNFR1-mediated ceramide production.
SignaLinkiQ92636.

Miscellaneous databases

ChiTaRSiNSMAF. human.
GenomeRNAii8439.
PROiQ92636.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000035681.
CleanExiHS_NSMAF.
ExpressionAtlasiQ92636. baseline and differential.
GenevisibleiQ92636. HS.

Family and domain databases

CDDicd06071. Beach. 1 hit.
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.
IPR011993. PH_dom-like.
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]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF50978. SSF50978. 1 hit.
SSF81837. SSF81837. 1 hit.
PROSITEiPS50197. BEACH. 1 hit.
PS51783. PH_BEACH. 1 hit.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 145 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.