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Aliases for MIR664B Gene

Subcategory (RNA class) for MIR664B Gene

miRNA

Quality Score for this RNA gene is

3

Aliases for MIR664B Gene

  • MicroRNA 664b 2 3
  • MicroRNA 644b 2 3
  • Nopp140-Associated Protein Of 57 KDa 4
  • Nucleolar Protein Family A Member 4 4
  • Dyskerin Pseudouridine Synthase 1 5
  • Nucleolar Protein NAP57 4
  • SnoRNP Protein DKC1 4
  • CBF5 Homolog 4
  • Hsa-Mir-644b 3
  • Hsa-Mir-664b 3
  • EC 5.4.99.- 4
  • EC 5.4.99 61
  • Dyskerin 4
  • Mir-664b 3
  • MIR644B 3
  • NOLA4 4
  • DKC1 5

External Ids for MIR664B Gene

Previous HGNC Symbols for MIR664B Gene

  • MIR644B

Previous GeneCards Identifiers for MIR664B Gene

  • GC0XU902007

Summaries for MIR664B Gene

Entrez Gene Summary for MIR664B Gene

  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

GeneCards Summary for MIR664B Gene

MIR664B (MicroRNA 664b) is an RNA Gene, and is affiliated with the miRNA class. Diseases associated with MIR664B include Dyskeratosis Congenita and Dyskeratosis Congenita, X-Linked. Among its related pathways are Chromosome Maintenance and rRNA processing in the nucleus and cytosol.

UniProtKB/Swiss-Prot for MIR664B Gene

  • Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine (psi) residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.

  • Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIR664B Gene

Genomics for MIR664B Gene

Regulatory Elements for MIR664B Gene

Enhancers for MIR664B 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
GH0XF154723 1.5 FANTOM5 Ensembl ENCODE 13.9 -30.7 -30742 18.0 HDGF PKNOX1 ZFP64 SIN3A ZNF2 GLIS2 ELK1 ZNF143 KLF7 FOS SNORA70 F8A1 SNORA56 EMD PLXNA3 HCFC1 F8A2 DKC1 MIR664B MPP1
GH0XF154783 0.8 Ensembl ENCODE 13.8 +21.6 21626 1.9 DMAP1 ZNF2 THRB RARA GATA2 ZBTB2 SMAD5 USF2 ZEB2 POLR2H MIR664B DKC1 FAM3A LCA10 SNORA56 HMGN1P37
GH0XF154796 1 FANTOM5 ENCODE 13.8 +38.7 38659 10.1 PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 FOS KLF13 F8A1 SNORA56 F8A2 EMD SNORA70 SNORA36A DKC1 MIR664B IKBKG TMLHE
GH0XF154794 1.1 FANTOM5 Ensembl ENCODE 13.8 +32.4 32435 1.6 SCRT1 MAZ HLF ZNF664 ZFP69B ZNF335 ZNF692 POLR2A GABPB1 CEBPA F8A1 SNORA36A DKC1 MIR664B MPP1 SNORA56 F8A2 FAM3A IKBKG GAB3
GH0XF154826 1.1 FANTOM5 Ensembl ENCODE 13 +65.2 65199 2.0 ELF3 MLX ARID4B DMAP1 RAD21 THRB ZSCAN9 ZNF48 YY1 RARA F8A1 F8A2 SNORA36A DKC1 MIR664B IKBKG GAB3 EMD MPP1 DNASE1L1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MIR664B on UCSC Golden Path with GeneCards custom track

Promoters for MIR664B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000661564 658 2800 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF48 YY1 KLF13 SP3

Genomic Location for MIR664B Gene

Chromosome:
X
Start:
154,762,742 bp from pter
End:
154,777,689 bp from pter
Size:
14,948 bases
Orientation:
Plus strand

Genomic View for MIR664B Gene

Genes around MIR664B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIR664B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIR664B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIR664B Gene

Proteins for MIR664B Gene

  • Protein details for MIR664B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60832-DKC1_HUMAN
    Recommended name:
    H/ACA ribonucleoprotein complex subunit 4
    Protein Accession:
    O60832
    Secondary Accessions:
    • F5BSB3
    • O43845
    • Q96G67
    • Q9Y505

    Protein attributes for MIR664B Gene

    Size:
    514 amino acids
    Molecular mass:
    57674 Da
    Quaternary structure:
    • Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex also interacts with TERC, which contains a 3-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Interacts with SHQ1; this interaction may lead to the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.
    • Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex also interacts with TERC, which contains a 3-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Interacts with SHQ1; this interaction may lead to the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.

    Alternative splice isoforms for MIR664B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIR664B Gene

Selected DME Specific Peptides for MIR664B Gene

O60832:
  • CVHLGLLLGVGG
  • LDPKVTG
  • NAICYGAK
  • ELRRVRSG
  • NLDKPSNPSSHEVV
  • GCLIVCI
  • RATRLVKSQQ
  • AVKRQLR
  • RDTYPRKWGLGP
  • KRVIMERD
  • WPLLLKN
  • GTLDPKV
  • SHEVVAW
  • AIALMTTA

Post-translational modifications for MIR664B Gene

  • Ubiquitination at Lys 39, Lys 80, Lys 151, Lys 191, Lys 302, and Lys 394
  • Modification sites at PhosphoSitePlus

Domains & Families for MIR664B Gene

Graphical View of Domain Structure for InterPro Entry

O60832

UniProtKB/Swiss-Prot:

DKC1_HUMAN :
  • Contains 1 PUA domain.
  • Belongs to the pseudouridine synthase TruB family.
Domain:
  • Contains 1 PUA domain.
Family:
  • Belongs to the pseudouridine synthase TruB family.
genes like me logo Genes that share domains with MIR664B: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for MIR664B Gene

Function for MIR664B Gene

Molecular function for MIR664B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
RNA uridine = RNA pseudouridine.
UniProtKB/Swiss-Prot Function:
Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine (psi) residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
UniProtKB/Swiss-Prot Function:
Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).

Enzyme Numbers (IUBMB) for MIR664B Gene

Gene Ontology (GO) - Molecular Function for MIR664B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003720 telomerase activity IDA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI --
GO:0009982 pseudouridine synthase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with MIR664B: view

Animal Model Products

miRNA Products

Clone Products

Flow Cytometry Products

No data available for Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MIR664B Gene

Localization for MIR664B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIR664B Gene

Isoform 1: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).
Isoform 3: Cytoplasm.

Gene Ontology (GO) - Cellular Components for MIR664B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005697 telomerase holoenzyme complex TAS --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MIR664B: view

No data available for Subcellular locations from COMPARTMENTS for MIR664B Gene

Pathways & Interactions for MIR664B Gene

genes like me logo Genes that share pathways with MIR664B: view

Pathways by source for MIR664B Gene

Gene Ontology (GO) - Biological Process for MIR664B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001522 pseudouridine synthesis IEA --
GO:0006364 rRNA processing IEA --
GO:0006396 RNA processing IEA --
GO:0007004 telomere maintenance via telomerase IDA --
GO:0008283 cell proliferation TAS --
genes like me logo Genes that share ontologies with MIR664B: view

No data available for SIGNOR curated interactions for MIR664B Gene

Transcripts for MIR664B Gene

mRNA/cDNA for MIR664B Gene

(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

miRNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIR664B Gene

No ASD Table

Relevant External Links for MIR664B Gene

GeneLoc Exon Structure for
MIR664B
ECgene alternative splicing isoforms for
MIR664B

Expression for MIR664B Gene

NURSA nuclear receptor signaling pathways regulating expression of MIR664B Gene:

MIR664B

mRNA Expression by UniProt/SwissProt for MIR664B Gene:

O60832-DKC1_HUMAN
Tissue specificity: Ubiquitously expressed.

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 and Protein tissue co-expression partners for MIR664B Gene

Orthologs for MIR664B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MIR664B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DKC1 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DKC1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dkc1 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DKC1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DKC1 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DKC1 35
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dkc1 35
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nop60B 35
  • 65 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K01G5.5 35
  • 66 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBF5 35 37
  • 62 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2418 35
  • 66 (a)
OneToOne
Species where no ortholog for MIR664B 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)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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 MIR664B Gene

ENSEMBL:
Gene Tree for MIR664B (if available)
TreeFam:
Gene Tree for MIR664B (if available)

Paralogs for MIR664B Gene

No data available for Paralogs for MIR664B Gene

Variants for MIR664B Gene

Sequence variations from dbSNP and Humsavar for MIR664B Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs199422246 Pathogenic 154,767,020(+) TTGTC(C/T)GGCTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs111807979 -- 154,768,139(+) GCCAC(C/T)GTGCC intron-variant, upstream-variant-2KB
rs112159031 -- 154,768,642(+) CATTT(A/G)CCTCC intron-variant, nc-transcript-variant
rs112768342 -- 154,768,618(+) TTGGG(C/T)AGAAA intron-variant, nc-transcript-variant
rs112858196 -- 154,768,904(+) ATGGC(A/G)TGAAC intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for MIR664B Gene

Variant ID Type Subtype PubMed ID
esv33784 CNV gain+loss 17666407

Relevant External Links for MIR664B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIR664B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MIR664B Gene

Disorders for MIR664B Gene

MalaCards: The human disease database

(2) MalaCards diseases for MIR664B Gene - From: GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita
  • zinsser-cole-engman syndrome
dyskeratosis congenita, x-linked
  • dyskeratosis congenita x-linked
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DKC1_HUMAN
  • Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]: A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269 PubMed:10364516, ECO:0000269 PubMed:15304085, ECO:0000269 PubMed:17417794, ECO:0000269 PubMed:18802941, ECO:0000269 PubMed:19734544, ECO:0000269 PubMed:19879169, ECO:0000269 PubMed:9590285}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]: A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency. {ECO:0000269 PubMed:10583221, ECO:0000269 PubMed:12437656, ECO:0000269 PubMed:19734544, ECO:0000269 PubMed:24914498}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MIR664B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIR664B
genes like me logo Genes that share disorders with MIR664B: view

No data available for Genatlas for MIR664B Gene

Publications for MIR664B Gene

  1. Mir-664 promotes osteosarcoma cells proliferation via downregulating of FOXO4. (PMID: 26463624) Chen B. … Chen J. (Biomed. Pharmacother. 2015) 3 64
  2. System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability. (PMID: 25755297) Xiao Z. … Vertegaal A.C. (Mol. Cell. Proteomics 2015) 4 64
  3. SUMO-2 orchestrates chromatin modifiers in response to DNA damage. (PMID: 25772364) Hendriks I.A. … Vertegaal A.C. (Cell Rep. 2015) 4 64
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64
  5. Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli. (PMID: 25114211) Impens F. … Ribet D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 4 64

Products for MIR664B Gene

Sources for MIR664B Gene

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