RESF1 (retroelement silencing factor 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 55196
Gene name Retroelement silencing factor 1
Gene symbol RESF1
Synonyms (NCBI Gene)
C12orf35GETKIAA1551UTA2-1
Chromosome 12
Chromosome location 12p11.21
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7 Show/Hide all (7)
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
GO:0042393 Function Histone binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
615621 25559 ENSG00000174718
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCM1
Protein name Retroelement silencing factor 1
Protein 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 re
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15395 DUF4617 669 → 1737 Domain of unknown function (DUF4617) Family
Sequence 
MNWNEKPKSATLPPLYPKSQPPFLHQSLINQITTTSQSSFSYPGSNQEACMYPGNSNPIS
QPLLNIQNYPQQISVSDMHNGTVVASHTSVERITYANVNGPKQLTHNLQMSSGVTQNVWL
NSPMRNPVHSHIGATVSHQTDFGANVPNMPALQSQLITSDTYSMQMQMIPSNSTRLPVAY
QGNQGLNQSFSEQQVDWTQQCISKGLTYPDYRPPPKLYRYSPQSFLPDSTIQKQNFIPHT
SLQVKNSQLLNSVLTLPSRQTSAVPSQQYATQTDKRPPPPPYNCRYGSQPLQSTQHITKH
LSMEVPQSREMLSSEIRTSFQQQWQNPNENVSTIGNFTNLKVNTNSKQPFNSPIRSSVDG
VQTLAQTNEEKIMDSCNPTSNQVLDTSVAKEKLVRDIKTLVEIKQKFSELARKIKINKDL
LMAAGCIKMTNTSYSEPAQNSKLSLKQTAKIQSGPQITPVMPENAERQTPTVVESAETNK
TQCMLNSDIQEVNCRRFNQVDSVLPNPVYSEKRPMPDSSHDVKVLTSKTSAVEMTQAVLN
TQLSSENVTKVEQNSPAVCETISVPKSMSTEEYKSKIQNENMLLLALLSQARKTQKTVLK
DANQTIQDSKPDSCEMNPNTQMTGNQLNLKNMETPSTSNVSGRVLDNSFCSGQESSTKGM
PAKSDSSCSMEVLATCLSLWKKQPSDTAKEKECDKLRTNTTAVGISKPANIHVKSPCSVV
GNSNSQNKISNPSQQTALSMVMHNYESSGINITKGTELQIAVVSPLVLSEVKTLSVKGIT
PAVLPETVYPVIKEGSVCSLQNQLAENAKATAALKVDVSGPVASTATSTKIFPLTQKEKQ
NESTNGNSEVTPNVNQGKHNKLESAIHSPMNDQQISQESRNSTVVSSDTLQIDNICSLVE
GDTSYNSQIAKIFSSLPLKMVEPQKPSLPNQQGIGSREPEKQLDNTTENKDFGFQKDKPV
QCTDVSHKICDQSKSEPPLESSFNNLETNRVILEKSSLEHATEKSTANDTCSSAAIQEDI
YPQEIDASSNYTPQDPARNEIHSDKAPVLYLHDQLSELLKEFPYGIEAVNTREGSVGQQT
TYQTSEDQTADKTSSDSKDPADQIQITILSSEQMKEIFPEQDDQPYVVDKLAEPQKEEPI
TEVVSQCDLQAPAAGQSRDSVILDSEKDDIHCCALGWLSMVYEGVPQCQCNSIKNSSSEE
EKQKEQCSPLDTNSCKQGERTSDRDVTVVQFKSLVNNPKTPPDGKSHFPELQDDSRKDTP
KTKHKSLPRTEQELVAGQFSSKCDKLNPLQNHKRKKLRFHEVTFHSSNKMTASYEQASQE
TRQKKHVTQNSRPLKTKTAFLPNKDVYKKHSSLGQSLSPEKIKLKLKSVSFKQKRKLDQG
NVLDMEVKKKKHDKQEQKGSVGATFKLGDSLSNPNERAIVKEKMVSNTKSVDTKASSSKF
SRILTPKEYLQRQKHKEALSNKASKKICVKNVPCDSEHMRPSKLAVQVESCGKSNEKHSS
GVQTSKESLNGLTSHGKNLKIHHSQESKTYNILRNVKEKVGGKQPDKIWIDKTKLDKLTN
ISNEAQFSQMPPQVKDQKKLYLNRVGFKCTERESISLTKLESSPRKLHKDKRQENKHKTF
LPVKGNTEKSNMLEFKLCPDILLKNTNSVEERKDVKPHPRKEQAPLQVSGIKSTKEDWLK
FVATKKRTQKDSQERDNVNSRLSKRSFSADGFEMLQNPVKDSKEMFQTYKQMYLEKRSRS
LGSSPVK
Sequence length 1747
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35589863, 38184787
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 38538606
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 38538606
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog 39046104
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 23006766 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36035299 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 25311806
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Multiple Myeloma Multiple myeloma Pubtator 23079962 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Testicular Germ Cell Tumor Testicular Germ Cell Tumor GWASCAT_DG 28604728
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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ATG14 2 shared diseasesTesticular carcinoma, Testicular germ cell tumor 2 shared evidence sourcesGWAS catalog (Testicular carcinoma), GWAS catalog (Testicular germ cell tumor) Related via 2 shared diseases including Testicular carcinoma, Testicular germ cell tumor — evidence mostly GWAS catalog. CDKL2 2 shared diseasesTesticular carcinoma, Testicular germ cell tumor 2 shared evidence sourcesGWAS catalog (Testicular carcinoma), GWAS catalog (Testicular germ cell tumor) Related via 2 shared diseases including Testicular carcinoma, Testicular germ cell tumor — evidence mostly GWAS catalog. GPR160 2 shared diseasesTesticular carcinoma, Testicular germ cell tumor 2 shared evidence sourcesGWAS catalog (Testicular carcinoma), GWAS catalog (Testicular germ cell tumor) Related via 2 shared diseases including Testicular carcinoma, Testicular germ cell tumor — evidence mostly GWAS catalog. KATNA1 2 shared diseasesTesticular carcinoma, Testicular germ cell tumor 2 shared evidence sourcesGWAS catalog (Testicular carcinoma), GWAS catalog (Testicular germ cell tumor) Related via 2 shared diseases including Testicular carcinoma, Testicular germ cell tumor — evidence mostly GWAS catalog. TKTL1 2 shared diseasesTesticular carcinoma, Testicular germ cell tumor 2 shared evidence sourcesGWAS catalog (Testicular carcinoma), GWAS catalog (Testicular germ cell tumor) Related via 2 shared diseases including Testicular carcinoma, Testicular germ cell tumor — evidence mostly GWAS catalog.
Diabetes mellitus type 2 Linked via 1 of 5 related genesCDKL2 Psoriasis Linked via 1 of 5 related genesGPR160 Central nervous system cancer Linked via 1 of 5 related genesKATNA1 Glioblastoma Linked via 1 of 5 related genesKATNA1 Glioma Linked via 1 of 5 related genesKATNA1