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Aliases for RESF1 Gene
Aliases for RESF1 Gene
External Ids for RESF1 Gene
- HGNC: 25559
- Entrez Gene: 55196
- Ensembl: ENSG00000174718
- UniProtKB: Q9HCM1
Previous HGNC Symbols for RESF1 Gene
- C12orf35
- KIAA1551
Previous GeneCards Identifiers for RESF1 Gene
- GC12P031968
- GC12P031970
- GC12P031974
- GC12P031966
Summaries for RESF1 Gene
GeneCards Summary for RESF1 Gene
RESF1 (Retroelement Silencing Factor 1) is a Protein Coding gene. Diseases associated with RESF1 include Malignant Granular Cell Myoblastoma.
UniProtKB/Swiss-Prot Summary for RESF1 Gene
-
Plays a role in the regulation of imprinted gene expression, regulates repressive epigenetic modifications associated with SETDB1. Required for the recruitment or accumulation of SETDB1 to the endogenous retroviruses (ERVs) and maintenance of repressive chromatin configuration, contributing to a subset of the SETDB1-dependent ERV silencing in embryonic stem cells.
Additional gene information for RESF1 Gene
- Monarch Initiative
- Search for RESF1 at DataMed
- Search for RESF1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RESF1 Gene
Genomics for RESF1 Gene
GeneHancer (GH) Regulatory Elements for RESF1 Gene
Promoters and enhancers for RESF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RESF1 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RESF1
Genomic Locations for RESF1 Gene
Genomic Locations for RESF1 Gene
- chr12:31,959,370-31,993,107
- (GRCh38/hg38)
- Size:
- 33,738 bases
- Orientation:
- Plus strand
- chr12:32,112,304-32,146,041
- (GRCh37/hg19)
- Size:
- 33,738 bases
- Orientation:
- Plus strand
Genomic View for RESF1 Gene
Genes around RESF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p11.21 by HGNC
- 12p11.21 by Entrez Gene
- 12p11.21 by Ensembl
RESF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RESF1 Gene
Proteins for RESF1 Gene
-
Protein details for RESF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HCM1-RESF1_HUMAN
- Recommended name:
- Retroelement silencing factor 1
- Protein Accession:
- Q9HCM1
- B2RTU5
- Q4KN17
- Q9NVL6
- Q9NWP9
Protein attributes for RESF1 Gene
- Size:
- 1747 amino acids
- Molecular mass:
- 194857 Da
- Quaternary structure:
-
- Interacts with SETDB1.
- SequenceCaution:
-
- Sequence=BAA91330.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91734.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB13377.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};
Post-translational modifications for RESF1 Gene
Other Protein References for RESF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-KIAA1551 (aa 1597-1729) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for RESF1
- Novus Biologicals Antibodies for RESF1
- Invitrogen Antibodies for RESF1 (AFLGC-KIAA1551)
- antibodies-online: Show 5 available KIAA1551 Antibodies ranked by validation data
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RESF1
- Origene Custom Protein Services for RESF1
- Novus Biologicals proteins for RESF1
No data available for DME Specific Peptides for RESF1 Gene
Domains & Families for RESF1 Gene
Gene Families for RESF1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RESF1 Gene
Function for RESF1 Gene
Molecular function for RESF1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in the regulation of imprinted gene expression, regulates repressive epigenetic modifications associated with SETDB1. Required for the recruitment or accumulation of SETDB1 to the endogenous retroviruses (ERVs) and maintenance of repressive chromatin configuration, contributing to a subset of the SETDB1-dependent ERV silencing in embryonic stem cells.
Phenotypes From GWAS Catalog for RESF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0042393 | histone binding | ISS | -- |
Phenotypes for RESF1 Gene
- MGI mutant phenotypes for RESF1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RESF1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RESF1 - Select products 50% OFF >
- * RESF1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * RESF1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for RESF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RESF1
- genomics-online: gRNA clones - Search results for available KIAA1551 gene related products
miRNA for RESF1 Gene
- miRTarBase miRNAs that target RESF1
-
- hsa-mir-335-5p (MIRT016779)
- hsa-mir-21-5p (MIRT030693)
- hsa-mir-23a-3p (MIRT050391)
- hsa-mir-27a-3p (MIRT247902)
- hsa-mir-181a-5p (MIRT247903)
- hsa-mir-181b-5p (MIRT247904)
- hsa-mir-181c-5p (MIRT247905)
- hsa-mir-27b-3p (MIRT247907)
- hsa-mir-181d-5p (MIRT247911)
- hsa-mir-6516-5p (MIRT458988)
- hsa-mir-6807-5p (MIRT458989)
- hsa-mir-4763-3p (MIRT458990)
- hsa-mir-1207-5p (MIRT458991)
- hsa-mir-650 (MIRT458992)
- hsa-mir-3612 (MIRT458993)
- hsa-mir-6499-3p (MIRT458994)
- hsa-mir-6722-3p (MIRT458995)
- hsa-mir-1909-3p (MIRT458996)
- hsa-mir-1827 (MIRT458997)
- hsa-mir-6840-3p (MIRT458998)
- hsa-mir-665 (MIRT458999)
- hsa-mir-940 (MIRT459000)
- hsa-mir-6893-5p (MIRT459001)
- hsa-mir-6808-5p (MIRT459002)
- hsa-mir-4695-5p (MIRT459003)
- hsa-mir-5011-3p (MIRT484032)
- hsa-mir-4522 (MIRT484033)
- hsa-mir-6721-5p (MIRT484034)
- hsa-mir-3919 (MIRT484035)
- hsa-mir-7109-3p (MIRT484036)
- hsa-mir-6855-5p (MIRT511294)
- hsa-mir-3170 (MIRT511295)
- hsa-mir-7151-3p (MIRT511296)
- hsa-mir-5095 (MIRT511297)
- hsa-mir-193b-5p (MIRT511298)
- hsa-mir-5589-5p (MIRT511299)
- hsa-mir-4731-5p (MIRT511300)
- hsa-mir-7155-5p (MIRT511301)
- hsa-mir-512-3p (MIRT511302)
- hsa-mir-4438 (MIRT511303)
- hsa-mir-520e (MIRT511304)
- hsa-mir-520d-3p (MIRT511305)
- hsa-mir-520c-3p (MIRT511306)
- hsa-mir-520b (MIRT511307)
- hsa-mir-520a-3p (MIRT511308)
- hsa-mir-373-3p (MIRT511309)
- hsa-mir-372-3p (MIRT511310)
- hsa-mir-302e (MIRT511311)
- hsa-mir-302d-3p (MIRT511312)
- hsa-mir-302c-3p (MIRT511313)
- hsa-mir-302b-3p (MIRT511314)
- hsa-mir-302a-3p (MIRT511315)
- hsa-mir-93-5p (MIRT511316)
- hsa-mir-526b-3p (MIRT511317)
- hsa-mir-519d-3p (MIRT511318)
- hsa-mir-20b-5p (MIRT511319)
- hsa-mir-20a-5p (MIRT511320)
- hsa-mir-17-5p (MIRT511321)
- hsa-mir-106b-5p (MIRT511322)
- hsa-mir-106a-5p (MIRT511323)
- hsa-mir-6778-3p (MIRT522850)
- hsa-mir-150-5p (MIRT522851)
- hsa-mir-186-3p (MIRT522852)
- hsa-mir-500b-3p (MIRT522853)
- hsa-mir-520h (MIRT522854)
- hsa-mir-520g-3p (MIRT522855)
- hsa-mir-619-5p (MIRT522856)
- hsa-mir-3685 (MIRT522857)
- hsa-mir-155-3p (MIRT522858)
- hsa-mir-7162-5p (MIRT522859)
- hsa-mir-516b-3p (MIRT522860)
- hsa-mir-516a-3p (MIRT522861)
- hsa-mir-4252 (MIRT522862)
- hsa-mir-6889-3p (MIRT522863)
- hsa-mir-6504-3p (MIRT522864)
- hsa-mir-4266 (MIRT628768)
- hsa-mir-383-3p (MIRT628769)
- hsa-mir-4779 (MIRT628770)
- hsa-mir-627-3p (MIRT647947)
- hsa-mir-6832-3p (MIRT647948)
- hsa-mir-3145-5p (MIRT647949)
- hsa-mir-4725-5p (MIRT664050)
- hsa-mir-5699-3p (MIRT664051)
- hsa-mir-4421 (MIRT664052)
- hsa-mir-339-5p (MIRT664053)
- hsa-mir-759 (MIRT664054)
- hsa-mir-548o-3p (MIRT664055)
- hsa-mir-1323 (MIRT664056)
- hsa-mir-5586-3p (MIRT664057)
- hsa-mir-10b-5p (MIRT664058)
- hsa-mir-10a-5p (MIRT664059)
- hsa-mir-548x-3p (MIRT664060)
- hsa-mir-548j-3p (MIRT664061)
- hsa-mir-548aq-3p (MIRT664062)
- hsa-mir-548am-3p (MIRT664063)
- hsa-mir-548aj-3p (MIRT664064)
- hsa-mir-548ah-3p (MIRT664065)
- hsa-mir-548ae-3p (MIRT664066)
- hsa-mir-7977 (MIRT670662)
- hsa-mir-1268b (MIRT670663)
- hsa-mir-1268a (MIRT670664)
- hsa-mir-585-3p (MIRT670665)
- hsa-mir-6787-5p (MIRT670666)
- hsa-mir-663a (MIRT670667)
- hsa-mir-1908-5p (MIRT670668)
- hsa-mir-566 (MIRT670669)
- hsa-mir-4767 (MIRT670670)
- hsa-mir-6720-3p (MIRT670671)
- hsa-mir-4486 (MIRT670672)
- hsa-mir-518c-5p (MIRT670673)
- hsa-mir-6499-5p (MIRT670674)
- hsa-mir-5690 (MIRT670675)
- hsa-mir-514a-5p (MIRT670676)
- hsa-mir-4714-5p (MIRT670677)
- hsa-mir-4258 (MIRT677185)
- hsa-mir-6872-3p (MIRT677186)
- hsa-mir-1260b (MIRT680189)
- hsa-mir-1260a (MIRT680190)
- hsa-mir-365b-5p (MIRT680191)
- hsa-mir-365a-5p (MIRT680192)
- hsa-mir-8052 (MIRT680193)
- hsa-mir-3199 (MIRT680194)
- hsa-mir-532-3p (MIRT680195)
- hsa-mir-4740-3p (MIRT680196)
- hsa-mir-1224-3p (MIRT680197)
- hsa-mir-764 (MIRT680198)
- hsa-mir-552-3p (MIRT680199)
- hsa-mir-3664-3p (MIRT694857)
- hsa-mir-510-5p (MIRT694858)
- hsa-mir-106a-3p (MIRT761103)
- hsa-mir-1227-3p (MIRT761394)
- hsa-mir-1247-3p (MIRT761546)
- hsa-mir-1273h-5p (MIRT762050)
- hsa-mir-149-3p (MIRT762797)
- hsa-mir-1910-3p (MIRT763299)
- hsa-mir-2114-3p (MIRT763803)
- hsa-mir-2467-3p (MIRT764091)
- hsa-mir-25-5p (MIRT764230)
- hsa-mir-30b-3p (MIRT764588)
- hsa-mir-3192-5p (MIRT765434)
- hsa-mir-3689a-3p (MIRT766816)
- hsa-mir-3689b-3p (MIRT766904)
- hsa-mir-3689c (MIRT766992)
- hsa-mir-4257 (MIRT768130)
- hsa-mir-4293 (MIRT768428)
- hsa-mir-4426 (MIRT768881)
- hsa-mir-4459 (MIRT769289)
- hsa-mir-455-3p (MIRT770345)
- hsa-mir-4647 (MIRT770599)
- hsa-mir-4662b (MIRT770805)
- hsa-mir-4684-3p (MIRT770969)
- hsa-mir-4728-5p (MIRT771712)
- hsa-mir-550b-2-5p (MIRT774609)
- hsa-mir-610 (MIRT775779)
- hsa-mir-6511a-5p (MIRT776797)
- hsa-mir-658 (MIRT777347)
- hsa-mir-661 (MIRT777433)
- hsa-mir-6779-5p (MIRT778893)
- hsa-mir-6780a-5p (MIRT778984)
- hsa-mir-6785-5p (MIRT779122)
- hsa-mir-6799-5p (MIRT779420)
- hsa-mir-6823-3p (MIRT779873)
- hsa-mir-6883-5p (MIRT780918)
- hsa-mir-7106-5p (MIRT781349)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RESF1
- Browse OriGene Inhibitory RNA Products For RESF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RESF1
- genomics-online: shRNA clones - Search results for available KIAA1551 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for RESF1 - Select products 50% OFF >
- * RESF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * RESF1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for RESF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RESF1
- genomics-online: cdna clones - Search results for available KIAA1551 gene related products
- orf clones - Search results for available KIAA1551 gene related products
Cell Line Products
-
Horizon Cell Lines for RESF1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RESF1 Gene
Localization for RESF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RESF1 Gene
- Nucleus. Note=Localizes around gamma-tubulin during M phase. {ECO:0000250 UniProtKB:Q5DTW7}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| cytoskeleton | 2 |
| golgi apparatus | 1 |
- Nucleoli (3)
- Cytosol (2)
- Intermediate filaments (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000930 | colocalizes_with gamma-tubulin complex | ISS | -- |
| GO:0005634 | nucleus | ISS | -- |
Pathways & Interactions for RESF1 Gene
Interacting Proteins for RESF1 Gene
GPS-Prot Interaction Network for RESF1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0045869 | negative regulation of single stranded viral RNA replication via double stranded DNA intermediate | ISS | -- |
| GO:0090309 | positive regulation of methylation-dependent chromatin silencing | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for RESF1 Gene
Transcripts for RESF1 Gene
mRNA/cDNA for RESF1 Gene
- 1 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000312561 6234 bps (ENST00000312561.9)
- ENST00000381054 2326 bps (ENST00000381054.3)
- ENST00000397578 814 bps (ENST00000397578.7)
- ENST00000535596 965 bps (ENST00000535596.5)
- ENST00000535606 391 bps (ENST00000535606.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RESF1 - Select products 50% OFF >
- * RESF1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * RESF1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for RESF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RESF1
- genomics-online: gRNA clones - Search results for available KIAA1551 gene related products
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RESF1
- Browse OriGene Inhibitory RNA Products For RESF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RESF1
- genomics-online: shRNA clones - Search results for available KIAA1551 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for RESF1 - Select products 50% OFF >
- * RESF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * RESF1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for RESF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RESF1
- genomics-online: cdna clones - Search results for available KIAA1551 gene related products
- orf clones - Search results for available KIAA1551 gene related products
Relevant External Links for RESF1 Gene
- GeneLoc Exon Structure for
- RESF1
Expression for RESF1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RESF1
SOURCE GeneReport for Unigene cluster for RESF1 Gene:
Hs.445129Evidence on tissue expression from TISSUES for RESF1 Gene
- Spleen(2.1)
No Expression Related Data Available
Primer Products
-
OriGene qPCR primer pairs for RESF1
-
OriGene qPCR primer pairs and template standards for RESF1
- genomics-online: primer clones - Search results for available KIAA1551 gene related products
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RESF1 Gene
Orthologs for RESF1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KIAA1551 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | C5H12orf35 30 |
|
||
| KIAA1551 31 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | C27H12orf35 30 |
|
||
| KIAA1551 31 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | 2810474O19Rik 31 30 |
|
OneToOne | |
| Resf1 17 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | RGD1309621 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | KIAA1551 31 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KIAA1551 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KIAA1551 31 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | KIAA1551 31 |
|
OneToOne |
- Species where no ortholog for RESF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for RESF1 Gene
- ENSEMBL:
- Gene Tree for RESF1 (if available)
- TreeFam:
- Gene Tree for RESF1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RESF1: view image
Paralogs for RESF1 Gene
Pseudogenes.org Pseudogenes for RESF1 Gene
No data available for Paralogs for RESF1 Gene
Variants for RESF1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RESF1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057994 | - | p.Val1226Ile | |||
| rs10771894 | - | p.Ser352Gly | |||
| rs12320740 | - | p.Ile202Val | |||
| rs16919122 | - | p.Arg309Gln | |||
| rs16919127 | - | p.Thr1010Lys |
Residual Variation Intolerance Score:
98.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.40;
92.75% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RESF1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RESF1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RESF1 Gene
Disorders for RESF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| malignant granular cell myoblastoma |
|
|
Search RESF1 in MalaCards
View complete list of genes associated with diseases
No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for RESF1 Gene
Publications for RESF1 Gene
- A CRISPR knockout screen identifies SETDB1-target retroelement silencing factors in embryonic stem cells. (PMID: 29728365) Fukuda K … Shinkai Y (Genome research 2018) 2 3 54
- Towards effective and safe immunotherapy after allogeneic stem cell transplantation: identification of hematopoietic-specific minor histocompatibility antigen UTA2-1. (PMID: 23079962) Oostvogels R … Mutis T (Leukemia 2013) 2 3 54
- Conserved expression of a novel gene during gonadal development. (PMID: 15861396) Hudson QJ … Sinclair AH (Developmental dynamics : an official publication of the American Association of Anatomists 2005) 2 3 54
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
- Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 54
ExternalLinks
Products for RESF1 Gene
- Custom Antibody ServicesOriGene Antibodies for RESF1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RESF1
- Origene Custom Protein Services for RESF1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RESF1
- Browse OriGene Inhibitory RNA Products For RESF1
- OriGene qPCR primer pairs for RESF1
- OriGene qPCR primer pairs and template standards for RESF1
- OriGene CRISPR knockouts for RESF1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RESF1
- Sino Biological Human cDNA Clone for RESF1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RESF1
- Novus Biologicals proteins for RESF1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for RESF1 (AFLGC-KIAA1551)
- antibodies-online: Show 5 available KIAA1551 Antibodies ranked by validation data
- antibodies-online: Search results for available KIAA1551 related products ranked by validation data
- antibodies-online: Search results for available KIAA1551 related products ranked by validation data
- Horizon Cell Lines for RESF1
- genomics-online: cdna clones - Search results for available KIAA1551 gene related products
- orf clones - Search results for available KIAA1551 gene related products
- genomics-online: gRNA clones - Search results for available KIAA1551 gene related products
- genomics-online: primer clones - Search results for available KIAA1551 gene related products
- genomics-online: shRNA clones - Search results for available KIAA1551 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RESF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RESF1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RESF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RESF1
Sources for RESF1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource