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UniProtKB - Q92636 (FAN_HUMAN)
Protein
Protein FAN
Gene
NSMAF
Organism
Homo sapiens (Human)
Status
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
- sphingomyelin phosphodiesterase activator activity Source: Ensembl
GO - Biological processi
- ceramide metabolic process Source: ProtInc
- positive regulation of apoptotic process Source: Ensembl
- signal transduction Source: ProtInc
Enzyme and pathway databases
PathwayCommonsi | Q92636 |
Reactomei | R-HSA-5626978, TNFR1-mediated ceramide production |
SignaLinki | Q92636 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein FANAlternative name(s): Factor associated with neutral sphingomyelinase activation Short name: Factor associated with N-SMase activation |
Gene namesi | Name:NSMAF Synonyms:FAN |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8017, NSMAF |
MIMi | 603043, gene |
neXtProti | NX_Q92636 |
VEuPathDBi | HostDB:ENSG00000035681 |
Subcellular locationi
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 8439 |
OpenTargetsi | ENSG00000035681 |
PharmGKBi | PA31795 |
Miscellaneous databases
Pharosi | Q92636, Tbio |
Genetic variation databases
BioMutai | NSMAF |
DMDMi | 209572614 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050975 | 1 – 917 | Protein FANAdd BLAST | 917 |
Proteomic databases
EPDi | Q92636 |
jPOSTi | Q92636 |
MassIVEi | Q92636 |
MaxQBi | Q92636 |
PaxDbi | Q92636 |
PeptideAtlasi | Q92636 |
PRIDEi | Q92636 |
ProteomicsDBi | 75390 [Q92636-1] 75391 [Q92636-2] |
PTM databases
iPTMneti | Q92636 |
PhosphoSitePlusi | Q92636 |
Expressioni
Tissue specificityi
Ubiquitous.
Gene expression databases
Bgeei | ENSG00000035681, Expressed in stomach and 243 other tissues |
ExpressionAtlasi | Q92636, baseline and differential |
Genevisiblei | Q92636, HS |
Organism-specific databases
HPAi | ENSG00000035681, Low tissue specificity |
Interactioni
Binary interactionsi
Q92636
Protein-protein interaction databases
BioGRIDi | 114019, 43 interactors |
DIPi | DIP-44106N |
IntActi | Q92636, 39 interactors |
MINTi | Q92636 |
STRINGi | 9606.ENSP00000411012 |
Miscellaneous databases
RNActi | Q92636, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 176 – 247 | GRAMAdd BLAST | 72 | |
Domaini | 189 – 286 | BEACH-type PHPROSITE-ProRule annotationAdd BLAST | 98 | |
Domaini | 290 – 575 | BEACHPROSITE-ProRule annotationAdd BLAST | 286 | |
Repeati | 628 – 658 | WD 1Add BLAST | 31 | |
Repeati | 670 – 700 | WD 2Add BLAST | 31 | |
Repeati | 712 – 740 | WD 3Add BLAST | 29 | |
Repeati | 761 – 791 | WD 4Add BLAST | 31 | |
Repeati | 803 – 833 | WD 5Add BLAST | 31 | |
Repeati | 884 – 914 | WD 6Add BLAST | 31 |
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG1786, Eukaryota |
GeneTreei | ENSGT00940000155059 |
HOGENOMi | CLU_000218_5_2_1 |
InParanoidi | Q92636 |
OMAi | MWMSELC |
OrthoDBi | 101142at2759 |
PhylomeDBi | Q92636 |
TreeFami | TF324912 |
Family and domain databases
CDDi | cd06071, Beach, 1 hit |
Gene3Di | 1.10.1540.10, 1 hit 2.130.10.10, 3 hits 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR000409, BEACH_dom IPR036372, BEACH_dom_sf IPR004182, GRAM IPR023362, PH-BEACH_dom IPR011993, PH-like_dom_sf IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF02138, Beach, 1 hit PF02893, GRAM, 1 hit PF00400, WD40, 3 hits |
SMARTi | View protein in SMART SM01026, Beach, 1 hit SM00568, GRAM, 1 hit SM00320, WD40, 7 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit SSF81837, SSF81837, 1 hit |
PROSITEi | View protein in PROSITE PS50197, BEACH, 1 hit PS51783, PH_BEACH, 1 hit PS50082, WD_REPEATS_2, 4 hits PS50294, WD_REPEATS_REGION, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q92636-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RGF5 | E5RGF5_HUMAN | Protein FAN | NSMAF | 65 | Annotation score: | ||
E5RGU2 | E5RGU2_HUMAN | Protein FAN | NSMAF | 54 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 218 | T → A in BAG57371 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047023 | 626 | Y → C. Corresponds to variant dbSNP:rs2228505Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042036 | 1 – 20 | MAFIR…YSKER → MTGQARFHRGAEACRAIRQC RSRRPRAAHPEGRAGSGRGS RHASPGVRRGG in isoform 2. 1 PublicationAdd BLAST | 20 |
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 |
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] |
Genome annotation databases
Ensembli | ENST00000038176; ENSP00000038176; ENSG00000035681 ENST00000427130; ENSP00000411012; ENSG00000035681 [Q92636-2] |
GeneIDi | 8439 |
KEGGi | hsa:8439 |
MANE-Selecti | ENST00000038176.8; ENSP00000038176.3; NM_003580.4; NP_003571.2 |
UCSCi | uc003xtt.4, human [Q92636-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
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] |
3D structure databases
SMRi | Q92636 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114019, 43 interactors |
DIPi | DIP-44106N |
IntActi | Q92636, 39 interactors |
MINTi | Q92636 |
STRINGi | 9606.ENSP00000411012 |
PTM databases
iPTMneti | Q92636 |
PhosphoSitePlusi | Q92636 |
Genetic variation databases
BioMutai | NSMAF |
DMDMi | 209572614 |
Proteomic databases
EPDi | Q92636 |
jPOSTi | Q92636 |
MassIVEi | Q92636 |
MaxQBi | Q92636 |
PaxDbi | Q92636 |
PeptideAtlasi | Q92636 |
PRIDEi | Q92636 |
ProteomicsDBi | 75390 [Q92636-1] 75391 [Q92636-2] |
Protocols and materials databases
Antibodypediai | 11802, 122 antibodies from 23 providers |
DNASUi | 8439 |
Genome annotation databases
Ensembli | ENST00000038176; ENSP00000038176; ENSG00000035681 ENST00000427130; ENSP00000411012; ENSG00000035681 [Q92636-2] |
GeneIDi | 8439 |
KEGGi | hsa:8439 |
MANE-Selecti | ENST00000038176.8; ENSP00000038176.3; NM_003580.4; NP_003571.2 |
UCSCi | uc003xtt.4, human [Q92636-1] |
Organism-specific databases
CTDi | 8439 |
DisGeNETi | 8439 |
GeneCardsi | NSMAF |
HGNCi | HGNC:8017, NSMAF |
HPAi | ENSG00000035681, Low tissue specificity |
MIMi | 603043, gene |
neXtProti | NX_Q92636 |
OpenTargetsi | ENSG00000035681 |
PharmGKBi | PA31795 |
VEuPathDBi | HostDB:ENSG00000035681 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1786, Eukaryota |
GeneTreei | ENSGT00940000155059 |
HOGENOMi | CLU_000218_5_2_1 |
InParanoidi | Q92636 |
OMAi | MWMSELC |
OrthoDBi | 101142at2759 |
PhylomeDBi | Q92636 |
TreeFami | TF324912 |
Enzyme and pathway databases
PathwayCommonsi | Q92636 |
Reactomei | R-HSA-5626978, TNFR1-mediated ceramide production |
SignaLinki | Q92636 |
Miscellaneous databases
BioGRID-ORCSi | 8439, 6 hits in 1043 CRISPR screens |
ChiTaRSi | NSMAF, human |
GenomeRNAii | 8439 |
Pharosi | Q92636, Tbio |
PROi | PR:Q92636 |
RNActi | Q92636, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000035681, Expressed in stomach and 243 other tissues |
ExpressionAtlasi | Q92636, baseline and differential |
Genevisiblei | Q92636, HS |
Family and domain databases
CDDi | cd06071, Beach, 1 hit |
Gene3Di | 1.10.1540.10, 1 hit 2.130.10.10, 3 hits 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR000409, BEACH_dom IPR036372, BEACH_dom_sf IPR004182, GRAM IPR023362, PH-BEACH_dom IPR011993, PH-like_dom_sf IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf |
Pfami | View protein in Pfam PF02138, Beach, 1 hit PF02893, GRAM, 1 hit PF00400, WD40, 3 hits |
SMARTi | View protein in SMART SM01026, Beach, 1 hit SM00568, GRAM, 1 hit SM00320, WD40, 7 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit SSF81837, SSF81837, 1 hit |
PROSITEi | View protein in PROSITE PS50197, BEACH, 1 hit PS51783, PH_BEACH, 1 hit PS50082, WD_REPEATS_2, 4 hits PS50294, WD_REPEATS_REGION, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FAN_HUMAN | |
Accessioni | Q92636Primary (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: | February 23, 2022 | |
This is version 178 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot