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Aliases for SARAF Gene

Aliases for SARAF Gene

  • Store-Operated Calcium Entry Associated Regulatory Factor 2 3 5
  • SOCE-Associated Regulatory Factor 2 3 4
  • Transmembrane Protein 66 2 3 4
  • HBV X-Transactivated Gene 3 Protein 3 4
  • HBV XAg-Transactivated Protein 3 3 4
  • TMEM66 3 4
  • XTP3 3 4
  • Store-Operated Calcium Entry-Associated Regulatory Factor 3
  • Testicular Secretory Protein Li 59 3
  • SARAF Short Isoform 3
  • SARAF Long Isoform 3
  • Protein FOAP-7 4
  • HSPC035 3
  • FOAP-7 3

External Ids for SARAF Gene

Previous HGNC Symbols for SARAF Gene

  • TMEM66

Summaries for SARAF Gene

GeneCards Summary for SARAF Gene

SARAF (Store-Operated Calcium Entry Associated Regulatory Factor) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SARAF Gene

  • Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+) overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a slow inactivation of STIM (STIM1 or STIM2)-dependent SOCE activity: possibly act by facilitating the deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions.

Gene Wiki entry for SARAF Gene

Additional gene information for SARAF Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SARAF Gene

Genomics for SARAF Gene

Regulatory Elements for SARAF Gene

Enhancers for SARAF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H030088 2 FANTOM5 Ensembl ENCODE dbSUPER 21.7 -9.6 -9578 9 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF766 FOS NFYC REST ZNF592 LEPROTL1 SARAF WRN GTF2E2 HSPA8P11 ENSG00000253708 MBOAT4
GH08H030075 1.5 FANTOM5 Ensembl ENCODE dbSUPER 28.5 +6.4 6444 1 ZNF362 MAFG FEZF1 DPF2 ZNF316 CBX5 SMARCA4 GATA2 IKZF1 HMBOX1 LEPROTL1 SARAF MBOAT4 ENSG00000272256 RNU6-1218P
GH08H030097 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15 -16.8 -16804 4 PKNOX1 ATF1 MLX ZNF133 ARID4B DMAP1 YY1 MXD4 REST PPARG LEPROTL1 SARAF MBOAT4 GC08M030097 RPS15AP24
GH08H030079 1.4 ENCODE dbSUPER 16.7 +0.9 885 4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 LEPROTL1 WRN GTF2E2 SARAF TAGLN2P2 LINC02209 LOC105379354 RBPMS HSPA8P11 ENSG00000272256
GH08H030059 1.3 Ensembl ENCODE dbSUPER 11.7 +23.2 23160 1 TBP JUN KLF17 FOSL1 ZNF121 POLR3A FOS SMARCE1 ZNF362 ZEB2 LEPROTL1 SARAF DUSP4 MBOAT4 RNU6-1218P ENSG00000272256
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SARAF on UCSC Golden Path with GeneCards custom track

Promoters for SARAF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000223024 808 2401 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for SARAF Gene

Chromosome:
8
Start:
30,063,012 bp from pter
End:
30,083,208 bp from pter
Size:
20,197 bases
Orientation:
Minus strand

Genomic View for SARAF Gene

Genes around SARAF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SARAF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SARAF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SARAF Gene

Proteins for SARAF Gene

  • Protein details for SARAF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BY9-SARAF_HUMAN
    Recommended name:
    Store-operated calcium entry-associated regulatory factor
    Protein Accession:
    Q96BY9
    Secondary Accessions:
    • B3KQQ4
    • B7Z9J1
    • D3DSU7
    • H9MHJ8
    • H9MHJ9
    • Q53HE8
    • Q9UNZ3
    • Q9Y683

    Protein attributes for SARAF Gene

    Size:
    339 amino acids
    Molecular mass:
    36975 Da
    Quaternary structure:
    • Interacts with STIM1.
    SequenceCaution:
    • Sequence=AAD44487.1; Type=Frameshift; Positions=28; Evidence={ECO:0000305};

    Alternative splice isoforms for SARAF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SARAF Gene

Post-translational modifications for SARAF Gene

  • Ubiquitination at Lys43, Lys65, isoforms=79, isoforms=86, Lys106, isoforms=109, isoforms=145, and Lys326
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SARAF Gene

Domains & Families for SARAF Gene

Gene Families for SARAF Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for SARAF Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96BY9

UniProtKB/Swiss-Prot:

SARAF_HUMAN :
  • The cytoplasmic C-terminal region mediates interaction with STIM1, while the N-terminal lumenal region mediates regulation of SOCE activity.
  • Belongs to the SARAF family.
Domain:
  • The cytoplasmic C-terminal region mediates interaction with STIM1, while the N-terminal lumenal region mediates regulation of SOCE activity.
Family:
  • Belongs to the SARAF family.
genes like me logo Genes that share domains with SARAF: view

Function for SARAF Gene

Molecular function for SARAF Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+) overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a slow inactivation of STIM (STIM1 or STIM2)-dependent SOCE activity: possibly act by facilitating the deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions.

Phenotypes From GWAS Catalog for SARAF Gene

Gene Ontology (GO) - Molecular Function for SARAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22464749
genes like me logo Genes that share ontologies with SARAF: view
genes like me logo Genes that share phenotypes with SARAF: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SARAF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SARAF Gene

Localization for SARAF Gene

Subcellular locations from UniProtKB/Swiss-Prot for SARAF Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Translocates to the endoplasmic reticulum-plasma membrane (ER-PM) region in a STIM1-dependent manner following cytosolic Ca(2+) elevation.
Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SARAF gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Rods & Rings (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SARAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IDA 22464749
genes like me logo Genes that share ontologies with SARAF: view

Pathways & Interactions for SARAF Gene

SuperPathways for SARAF Gene

No Data Available

Gene Ontology (GO) - Biological Process for SARAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:2001256 regulation of store-operated calcium entry IDA 22464749
genes like me logo Genes that share ontologies with SARAF: view

No data available for Pathways by source and SIGNOR curated interactions for SARAF Gene

Drugs & Compounds for SARAF Gene

No Compound Related Data Available

Transcripts for SARAF Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SARAF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SARAF Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: -
SP5: - - -
SP6: -
SP7: - - -
SP8: - - - - -
SP9: - - - - - - - - - - - - -
SP10: -
SP11:

ExUns: 9d · 9e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SARAF Gene

GeneLoc Exon Structure for
SARAF
ECgene alternative splicing isoforms for
SARAF

Expression for SARAF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SARAF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SARAF Gene

This gene is overexpressed in Bone (48.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SARAF Gene



NURSA nuclear receptor signaling pathways regulating expression of SARAF Gene:

SARAF

mRNA Expression by UniProt/SwissProt for SARAF Gene:

Q96BY9-SARAF_HUMAN
Tissue specificity: Highly expressed in macrophages.

Evidence on tissue expression from TISSUES for SARAF Gene

  • Nervous system(5)
  • Blood(4.4)
  • Heart(4.4)
  • Kidney(3.6)
  • Pancreas(3.6)
  • Lung(3.5)
  • Intestine(3.3)
  • Liver(2.8)
  • Adrenal gland(2.4)
  • Stomach(2.4)
  • Lymph node(2.3)
  • Thyroid gland(2.3)
  • Gall bladder(2.2)
  • Spleen(2.2)
  • Bone marrow(2.1)
  • Muscle(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with SARAF: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SARAF Gene

Orthologs for SARAF Gene

This gene was present in the common ancestor of animals.

Orthologs for SARAF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM66 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia TMEM66 33 34
  • 87.46 (n)
cow
(Bos Taurus)
Mammalia TMEM66 33 34
  • 83.82 (n)
mouse
(Mus musculus)
Mammalia Tmem66 33 34
  • 82.09 (n)
Saraf 16
rat
(Rattus norvegicus)
Mammalia Tmem66 33
  • 79.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 52 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TMEM66 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM66 34
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM66 34
  • 50 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2119 33
zebrafish
(Danio rerio)
Actinopterygii tmem66 34
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T06D8.9 33 34
  • 48.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToOne
Species where no ortholog for SARAF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SARAF Gene

ENSEMBL:
Gene Tree for SARAF (if available)
TreeFam:
Gene Tree for SARAF (if available)

Paralogs for SARAF Gene

Pseudogenes.org Pseudogenes for SARAF Gene

genes like me logo Genes that share paralogs with SARAF: view

No data available for Paralogs for SARAF Gene

Variants for SARAF Gene

Sequence variations from dbSNP and Humsavar for SARAF Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000029301 -- 30,082,444(+) ACGGC(C/T)GGCGA intron-variant
rs1000228929 -- 30,065,716(+) CTCTA(C/G)AGATC intron-variant, utr-variant-3-prime
rs1000364795 -- 30,083,663(+) TAAAA(C/T)GTCAA upstream-variant-2KB
rs1000437004 -- 30,083,354(+) GAGAT(G/T)CGGGA upstream-variant-2KB, utr-variant-5-prime
rs1000524846 -- 30,074,322(+) AAGAA(C/T)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SARAF Gene

Variant ID Type Subtype PubMed ID
esv2656771 CNV deletion 23128226
esv2736824 CNV deletion 23290073
esv2736825 CNV deletion 23290073
esv2736826 CNV deletion 23290073
esv3543288 CNV deletion 23714750
nsv831277 CNV gain 17160897

Variation tolerance for SARAF Gene

Residual Variation Intolerance Score: 63.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SARAF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SARAF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SARAF Gene

Disorders for SARAF Gene

Relevant External Links for SARAF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SARAF

No disorders were found for SARAF Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SARAF Gene

Publications for SARAF Gene

  1. SARAF inactivates the store operated calcium entry machinery to prevent excess calcium refilling. (PMID: 22464749) Palty R … Reuveny E (Cell 2012) 2 3 4 60
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 60
  3. The STIM1 CTID domain determines access of SARAF to SOAR to regulate Orai1 channel function. (PMID: 23816623) Jha A … Muallem S (The Journal of cell biology 2013) 2 3 60
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for SARAF Gene

Sources for SARAF Gene

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