Human Gene SARAF (ENST00000256255.11_8) from GENCODE V47lift37
  Description: store-operated calcium entry associated regulatory factor, transcript variant 1 (from RefSeq NM_016127.6)
Gencode Transcript: ENST00000256255.11_8
Gencode Gene: ENSG00000133872.14_17
Transcript (Including UTRs)
   Position: hg19 chr8:29,920,519-29,940,580 Size: 20,062 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr8:29,921,404-29,940,465 Size: 19,062 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:29,920,519-29,940,580)mRNA (may differ from genome)Protein (339 aa)
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-  Comments and Description Text from UniProtKB
  ID: SARAF_HUMAN
DESCRIPTION: RecName: Full=Store-operated calcium entry-associated regulatory factor; Short=SARAF; Short=SOCE-associated regulatory factor; AltName: Full=HBV X-transactivated gene 3 protein; AltName: Full=HBV XAg-transactivated protein 3; AltName: Full=Protein FOAP-7; AltName: Full=Transmembrane protein 66; Flags: Precursor;
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.
SUBUNIT: Interacts with STIM1.
SUBCELLULAR LOCATION: 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.
SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Highly expressed in macrophages.
DOMAIN: The cytoplasmic C-terminal region mediates interaction with STIM1, while the N-terminal lumenal region mediates regulation of SOCE activity (PubMed:22464749).
SIMILARITY: Belongs to the SARAF family.
SEQUENCE CAUTION: Sequence=AAD44487.1; Type=Frameshift; Positions=28;

-  Primer design for this transcript
 

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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.
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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


+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 194.05 RPKM in Brain - Hypothalamus
Total median expression: 4996.66 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -51.90115-0.451 Picture PostScript Text
3' UTR -198.60885-0.224 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
IPR009567 - DUF1183_TMEM66

Pfam Domains:
PF06682 - SOCE-associated regulatory factor of calcium homoeostasis

ModBase Predicted Comparative 3D Structure on Q96BY9
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-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:2001256 regulation of store-operated calcium entry

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  BC015012 - Homo sapiens transmembrane protein 66, mRNA (cDNA clone MGC:8721 IMAGE:3908758), complete cds.
AB028926 - Homo sapiens mRNA for FOAP-7, complete cds.
AF100748 - Homo sapiens HSPC035 protein mRNA, complete cds.
AF078855 - Homo sapiens NPD003 mRNA, complete cds.
JQ348891 - Homo sapiens SARAF long isoform (TMEM66) mRNA, TMEM66-L allele, complete cds, alternatively spliced.
AK075340 - Homo sapiens cDNA PSEC0019 fis, clone NT2RP1000125, highly similar to Transmembrane protein 66 precursor.
AK025927 - Homo sapiens cDNA: FLJ22274 fis, clone HRC03616, highly similar to AF078855 Homo sapiens NPD003 mRNA.
AK130057 - Homo sapiens cDNA FLJ26547 fis, clone LNF00796.
AK094386 - Homo sapiens cDNA FLJ37067 fis, clone BRACE2015262, highly similar to Transmembrane protein 66 precursor.
AY359104 - Homo sapiens clone DNA96889 AAAC1967 (UNQ1967) mRNA, complete cds.
HM005599 - Homo sapiens clone HTL-S-59 testicular secretory protein Li 59 mRNA, complete cds.
JD432997 - Sequence 414021 from Patent EP1572962.
JD301435 - Sequence 282459 from Patent EP1572962.
JD162544 - Sequence 143568 from Patent EP1572962.
JD288211 - Sequence 269235 from Patent EP1572962.
JD027304 - Sequence 8328 from Patent EP1572962.
JD031140 - Sequence 12164 from Patent EP1572962.
JD357285 - Sequence 338309 from Patent EP1572962.
AK295360 - Homo sapiens cDNA FLJ55028 complete cds, highly similar to Transmembrane protein 66 precursor.
AK222632 - Homo sapiens mRNA for hypothetical protein MGC8721 variant, clone: CBL04189.
JD496453 - Sequence 477477 from Patent EP1572962.
AK315956 - Homo sapiens cDNA, FLJ78855 complete cds, highly similar to Transmembrane protein 66 precursor.
JD502151 - Sequence 483175 from Patent EP1572962.
JD276668 - Sequence 257692 from Patent EP1572962.
JD302442 - Sequence 283466 from Patent EP1572962.
JD061613 - Sequence 42637 from Patent EP1572962.
JD560271 - Sequence 541295 from Patent EP1572962.
AY454545 - Homo sapiens hypothetical protein MGC8721 isoform, partial sequence; alternatively spliced.
AF490252 - Homo sapiens XTP3 (XTP3) mRNA, complete cds.
JQ348892 - Homo sapiens SARAF short isoform (TMEM66) mRNA, TMEM66-S allele, complete cds, alternatively spliced.
AK314659 - Homo sapiens cDNA, FLJ95506.
KJ893968 - Synthetic construct Homo sapiens clone ccsbBroadEn_03362 TMEM66 gene, encodes complete protein.
DQ892451 - Synthetic construct clone IMAGE:100005081; FLH186449.01X; RZPDo839E0871D transmembrane protein 66 (TMEM66) gene, encodes complete protein.
DQ895663 - Synthetic construct Homo sapiens clone IMAGE:100010123; FLH186445.01L; RZPDo839E0861D transmembrane protein 66 (TMEM66) gene, encodes complete protein.
JD025478 - Sequence 6502 from Patent EP1572962.
JD027302 - Sequence 8326 from Patent EP1572962.
Z70223 - H.sapiens mRNA for 5'UTR for unknown protein (clone ICRFp507L0677).
JD021514 - Sequence 2538 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQQ4, B7Z9J1, D3DSU7, ENST00000256255.1, ENST00000256255.10, ENST00000256255.2, ENST00000256255.3, ENST00000256255.4, ENST00000256255.5, ENST00000256255.6, ENST00000256255.7, ENST00000256255.8, ENST00000256255.9, H9MHJ8, H9MHJ9, HSPC035, NM_016127, NPD003, PSEC0019, Q53HE8, Q96BY9, Q9UNZ3, Q9Y683, SARAF_HUMAN, TMEM66, uc317ftx.1, uc317ftx.2, UNQ1967/PRO4499, XTP3
UCSC ID: ENST00000256255.11_8
RefSeq Accession: NM_016127.6
Protein: Q96BY9 (aka SARAF_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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