Human Gene FAF1 (ENST00000396153.7) from GENCODE V44
  Description: Homo sapiens Fas associated factor 1 (FAF1), mRNA. (from RefSeq NM_007051)
RefSeq Summary (NM_007051): Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000396153.7
Gencode Gene: ENSG00000185104.21
Transcript (Including UTRs)
   Position: hg38 chr1:50,437,028-50,960,267 Size: 523,240 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg38 chr1:50,441,440-50,959,811 Size: 518,372 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:50,437,028-50,960,267)mRNA (may differ from genome)Protein (650 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FAF1_HUMAN
DESCRIPTION: RecName: Full=FAS-associated factor 1; Short=hFAF1; AltName: Full=UBX domain-containing protein 12; AltName: Full=UBX domain-containing protein 3A;
FUNCTION: Potentiates but cannot initiate FAS-induced apoptosis.
SUBUNIT: Specifically interacts with the cytoplasmic domain of FAS. Interacts with NLRP12 DAPIN/PYRIN domain via its UBA domain.
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Most abundant in testis, slightly less abundant in skeletal muscle and heart, followed by prostate, thymus, ovary, small intestine, and colon. Not detected in the peripheral blood leukocytes.
SIMILARITY: Contains 1 UBA domain.
SIMILARITY: Contains 1 UBX domain.
SEQUENCE CAUTION: Sequence=AAD51876.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FAF1
Diseases sorted by gene-association score: amyotrophic lateral sclerosis type 14 (11), congenital disorder of deglycosylation (11), amyotrophic lateral sclerosis 8 (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D013749 Tetrachlorodibenzodioxin
  • C016403 2,4-dinitrotoluene
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D015127 9,10-Dimethyl-1,2-benzanthracene
  • D016604 Aflatoxin B1
  • D000643 Ammonium Chloride
  • D017638 Asbestos, Crocidolite
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.26 RPKM in Testis
Total median expression: 438.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -247.70456-0.543 Picture PostScript Text
3' UTR -1395.204412-0.316 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006577 - UAS
IPR001012 - UBX

Pfam Domains:
PF00789 - UBX domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1H8C - NMR MuPIT 2DZM - NMR MuPIT 2EC4 - NMR MuPIT 3E21 - X-ray MuPIT 3QC8 - X-ray 3QCA - X-ray MuPIT 3QQ8 - X-ray MuPIT 3QWZ - X-ray MuPIT 3QX1 - X-ray MuPIT 3R3M - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UNN5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019887 protein kinase regulator activity
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0031072 heat shock protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0043130 ubiquitin binding
GO:0051059 NF-kappaB binding

Biological Process:
GO:0006915 apoptotic process
GO:0007253 cytoplasmic sequestering of NF-kappaB
GO:0008219 cell death
GO:0010942 positive regulation of cell death
GO:0030155 regulation of cell adhesion
GO:0031334 positive regulation of protein complex assembly
GO:0042176 regulation of protein catabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0045740 positive regulation of DNA replication
GO:0045859 regulation of protein kinase activity
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1903364 positive regulation of cellular protein catabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0031265 CD95 death-inducing signaling complex
GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK292840 - Homo sapiens cDNA FLJ76472 complete cds, highly similar to Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), transcript variant 1, mRNA.
AL133631 - Homo sapiens mRNA; cDNA DKFZp434P1723 (from clone DKFZp434P1723).
BC004970 - Homo sapiens Fas (TNFRSF6) associated factor 1, mRNA (cDNA clone MGC:3486 IMAGE:2958207), complete cds.
AF132938 - Homo sapiens CGI-03 protein mRNA, complete cds.
AF136173 - Homo sapiens Fas-associated protein factor FAF1 mRNA, complete cds.
AK293659 - Homo sapiens cDNA FLJ50752 complete cds, highly similar to FAS-associated factor 1.
AF094700 - Homo sapiens Fas associated factor 1 mRNA, complete cds.
AF106798 - Homo sapiens fas-associated factor 1 (FAF1) mRNA, complete cds.
BC067100 - Homo sapiens Fas (TNFRSF6) associated factor 1, mRNA (cDNA clone MGC:71170 IMAGE:5928559), complete cds.
AJ271408 - Homo sapiens mRNA for Fas-associated factor, FAF1 (Faf1 gene).
AK094843 - Homo sapiens cDNA FLJ37524 fis, clone BRCAN2007119, highly similar to FAS-associated factor 1.
DQ892939 - Synthetic construct clone IMAGE:100005569; FLH191010.01X; RZPDo839G0576D Fas (TNFRSF6) associated factor 1 (FAF1) gene, encodes complete protein.
DQ896188 - Synthetic construct Homo sapiens clone IMAGE:100010648; FLH191008.01L; RZPDo839G0566D Fas (TNFRSF6) associated factor 1 (FAF1) gene, encodes complete protein.
AB385209 - Synthetic construct DNA, clone: pF1KB9397, Homo sapiens FAF1 gene for FAS-associated factor 1, complete cds, without stop codon, in Flexi system.
JD565041 - Sequence 546065 from Patent EP1572962.
JD320444 - Sequence 301468 from Patent EP1572962.
JD512913 - Sequence 493937 from Patent EP1572962.
JD320682 - Sequence 301706 from Patent EP1572962.
JD406926 - Sequence 387950 from Patent EP1572962.
JD416407 - Sequence 397431 from Patent EP1572962.
JD522857 - Sequence 503881 from Patent EP1572962.
JD409491 - Sequence 390515 from Patent EP1572962.
JD086889 - Sequence 67913 from Patent EP1572962.
JD222215 - Sequence 203239 from Patent EP1572962.
JD257382 - Sequence 238406 from Patent EP1572962.
JD472097 - Sequence 453121 from Patent EP1572962.
JD217597 - Sequence 198621 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_fasPathway - FAS signaling pathway ( CD95 )

-  Other Names for This Gene
  Alternate Gene Symbols: CGI-03, ENST00000396153.1, ENST00000396153.2, ENST00000396153.3, ENST00000396153.4, ENST00000396153.5, ENST00000396153.6, FAF1_HUMAN, NM_007051, Q549F0, Q9UF34, Q9UNN5, Q9UNT3, Q9Y2Z3, UBXD12, UBXN3A, uc001cse.1, uc001cse.2, uc001cse.3
UCSC ID: ENST00000396153.7
RefSeq Accession: NM_007051
Protein: Q9UNN5 (aka FAF1_HUMAN)
CCDS: CCDS554.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.