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Aliases for MYLIP Gene

Aliases for MYLIP Gene

  • Myosin Regulatory Light Chain Interacting Protein 2 3 4 5
  • E3 Ubiquitin Ligase-Inducible Degrader Of The Low Density Lipoprotein Receptor 2 3
  • RING-Type E3 Ubiquitin Transferase MYLIP 3 4
  • Inducible Degrader Of The LDL-Receptor 3 4
  • IDOL 3 4
  • MIR 3 4
  • Cellular Modulator Of Immune Recognition (C-MIR) 3
  • E3 Ubiquitin-Protein Ligase MYLIP 3
  • Band 4.1 Superfamily Member BZF1 3
  • EC 2.3.2.27 4
  • BZF1 4

External Ids for MYLIP Gene

Previous GeneCards Identifiers for MYLIP Gene

  • GC06P016237
  • GC06P016076

Summaries for MYLIP Gene

Entrez Gene Summary for MYLIP Gene

  • The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYLIP Gene

MYLIP (Myosin Regulatory Light Chain Interacting Protein) is a Protein Coding gene. Diseases associated with MYLIP include Deafness, Autosomal Dominant 31 and Deafness, Autosomal Dominant 21. Among its related pathways are Metabolism and Lipoprotein metabolism. GO annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is RDX.

UniProtKB/Swiss-Prot for MYLIP Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR.

Gene Wiki entry for MYLIP Gene

Additional gene information for MYLIP Gene

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

Genomics for MYLIP Gene

Regulatory Elements for MYLIP Gene

Enhancers for MYLIP 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
GH06H016418 1.6 FANTOM5 Ensembl ENCODE 19.6 +292.3 292261 4 HDGF PKNOX1 FEZF1 ZNF2 ZNF207 ATF7 RUNX3 JUNB TSHZ1 ZNF592 MYLIP ATXN1 GC06M016363 PIR62746
GH06H016316 2 FANTOM5 Ensembl ENCODE dbSUPER 15.5 +191.7 191714 8 HDGF PKNOX1 ARNT FEZF1 ZNF2 ZNF766 ZNF143 FOS JUNB REST MYLIP ATXN1 GC06M016363 ENSG00000282024
GH06H016758 1.7 Ensembl ENCODE dbSUPER 15.7 +636.0 636026 13 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 NUP153 MYLIP LOC644906 SUMO2P13 LOC105374952 ATXN1 ENSG00000272341 GC06P016871
GH06H016128 1.4 ENCODE dbSUPER 15.9 +1.3 1284 3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 MYLIP LOC644906 RNU6-1114P MIR4639
GH06H015894 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11 -232.6 -232634 4 HDGF PKNOX1 ARNT YY1 ZNF766 REST ZNF592 MEF2D SMARCA4 NBN MYLIP ARPC3P5 DTNBP1 GC06P015931 LOC105374948
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYLIP on UCSC Golden Path with GeneCards custom track

Promoters for MYLIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000193925 1015 3400 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9

Genomic Location for MYLIP Gene

Chromosome:
6
Start:
16,129,086 bp from pter
End:
16,148,248 bp from pter
Size:
19,163 bases
Orientation:
Plus strand

Genomic View for MYLIP Gene

Genes around MYLIP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MYLIP Gene

Proteins for MYLIP Gene

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

    Protein Symbol:
    Q8WY64-MYLIP_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase MYLIP
    Protein Accession:
    Q8WY64
    Secondary Accessions:
    • Q5TIA4
    • Q9BU73
    • Q9NRL9
    • Q9UHE7

    Protein attributes for MYLIP Gene

    Size:
    445 amino acids
    Molecular mass:
    49910 Da
    Quaternary structure:
    • Homodimer. Interacts with the E2 ubiquitin-conjugating enzyme, UBE2D1 (via RING-type zinc finger). Interacts with myosin regulatory light chain (MRLC) and TMEM4.

    Three dimensional structures from OCA and Proteopedia for MYLIP Gene

    Alternative splice isoforms for MYLIP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYLIP Gene

Post-translational modifications for MYLIP Gene

Other Protein References for MYLIP Gene

No data available for DME Specific Peptides for MYLIP Gene

Domains & Families for MYLIP Gene

Gene Families for MYLIP Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MYLIP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WY64

UniProtKB/Swiss-Prot:

MYLIP_HUMAN :
  • The RING domain mediates ubiquitination and the neurite outgrowth inhibitory activity.
Domain:
  • The RING domain mediates ubiquitination and the neurite outgrowth inhibitory activity.
  • The FERM domain binds phospholipids and mediates lipoprotein receptors recognition at the plasma membrane through their cytoplasmic tails.
  • The RING-type zinc finger mediates the interaction with UBE2D E2 enzymes.
genes like me logo Genes that share domains with MYLIP: view

Function for MYLIP Gene

Molecular function for MYLIP Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Can bind 1 iron ion per dimer. Iron binding seems to decrease LDLR degradation activity.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR.
UniProtKB/Swiss-Prot Induction:
Expression is directly activated by NR1H2 and NR1H3. Expression is not dependent of the sterol-response element-binding proteins (SREBPs). Expression is indirectly induced by LDL.

Enzyme Numbers (IUBMB) for MYLIP Gene

Phenotypes From GWAS Catalog for MYLIP Gene

Gene Ontology (GO) - Molecular Function for MYLIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS,IEA --
GO:0005200 NOT structural constituent of cytoskeleton IBA --
GO:0005515 protein binding IPI 12826659
GO:0008092 cytoskeletal protein binding IDA 10593918
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with MYLIP: view
genes like me logo Genes that share phenotypes with MYLIP: view

Animal Models for MYLIP Gene

MGI Knock Outs for MYLIP:

Animal Model Products

  • Taconic Biosciences Mouse Models for MYLIP

CRISPR Products

miRNA for MYLIP Gene

miRTarBase miRNAs that target MYLIP

Inhibitory RNA Products

Clone Products

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYLIP Gene

Localization for MYLIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYLIP Gene

Cytoplasm. Cell membrane; Peripheral 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 MYLIP gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 2
nucleus 2
lysosome 2
endosome 1

Gene Ontology (GO) - Cellular Components for MYLIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 10593918
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 NOT cytoskeleton IEA,IBA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with MYLIP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYLIP Gene

Pathways & Interactions for MYLIP Gene

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

UniProtKB/Swiss-Prot Q8WY64-MYLIP_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MYLIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0006928 movement of cell or subcellular component IMP 10593918
GO:0007399 nervous system development IMP 10593918
GO:0010989 negative regulation of low-density lipoprotein particle clearance IEA --
GO:0016567 protein ubiquitination IDA,IEA 14550572
genes like me logo Genes that share ontologies with MYLIP: view

No data available for SIGNOR curated interactions for MYLIP Gene

Drugs & Compounds for MYLIP Gene

(4) Drugs for MYLIP Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
ATP Nutra Agonist 0

(1) Additional Compounds for MYLIP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with MYLIP: view

Transcripts for MYLIP Gene

Unigene Clusters for MYLIP Gene

Myosin regulatory light chain interacting protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7
SP1: - - -
SP2: -
SP3: - -
SP4:
SP5:

Relevant External Links for MYLIP Gene

GeneLoc Exon Structure for
MYLIP
ECgene alternative splicing isoforms for
MYLIP

Expression for MYLIP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MYLIP Gene

This gene is overexpressed in Placenta (69.0).

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



Protein tissue co-expression partners for MYLIP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYLIP Gene:

MYLIP

SOURCE GeneReport for Unigene cluster for MYLIP Gene:

Hs.484738

mRNA Expression by UniProt/SwissProt for MYLIP Gene:

Q8WY64-MYLIP_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for MYLIP Gene

  • Nervous system(4.4)
  • Bone marrow(4.3)
genes like me logo Genes that share expression patterns with MYLIP: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYLIP Gene

Orthologs for MYLIP Gene

This gene was present in the common ancestor of animals.

Orthologs for MYLIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYLIP 33 34
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia MYLIP 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYLIP 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mylip 33
  • 90.56 (n)
dog
(Canis familiaris)
Mammalia MYLIP 33 34
  • 89.5 (n)
cow
(Bos Taurus)
Mammalia MYLIP 33 34
  • 88.86 (n)
mouse
(Mus musculus)
Mammalia Mylip 33 16 34
  • 88.76 (n)
chicken
(Gallus gallus)
Aves MYLIP 33 34
  • 80.67 (n)
lizard
(Anolis carolinensis)
Reptilia MYLIP 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mylip 33
  • 76.33 (n)
Str.8061 33
zebrafish
(Danio rerio)
Actinopterygii mylipa 33 34
  • 69.5 (n)
mylipb 34
  • 62 (a)
OneToMany
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001609 33
  • 49.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta dnr1 33 34
  • 47.44 (n)
worm
(Caenorhabditis elegans)
Secernentea nfm-1 34
  • 12 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9403 34
  • 35 (a)
OneToOne
Species where no ortholog for MYLIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MYLIP Gene

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

Paralogs for MYLIP Gene

Paralogs for MYLIP Gene

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

Variants for MYLIP Gene

Sequence variations from dbSNP and Humsavar for MYLIP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000009635 -- 16,147,008(+) TTTTT(A/G)TGATC intron-variant, utr-variant-3-prime
rs1000117315 -- 16,150,136(+) TGAAA(A/G)GACCC intron-variant
rs1000158893 -- 16,149,810(+) GGTCA(A/G)CATTA intron-variant
rs1000195873 -- 16,148,740(+) GGCCT(C/T)GGGCT intron-variant, downstream-variant-500B
rs1000219487 -- 16,144,153(+) TCTAT(A/G)CCTAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv5209 CNV insertion 18451855
nsv950132 CNV duplication 24416366

Variation tolerance for MYLIP Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYLIP Gene

Human Gene Mutation Database (HGMD)
MYLIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYLIP

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

Disorders for MYLIP Gene

MalaCards: The human disease database

(5) MalaCards diseases for MYLIP Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 31
  • autosomal dominant nonsyndromic deafness 31
deafness, autosomal dominant 21
  • autosomal dominant nonsyndromic deafness 21
bubonic plague
  • black death
deafness, autosomal dominant 13
  • autosomal dominant nonsyndromic deafness 13
charcot-marie-tooth disease, type 4d
  • charcot-marie-tooth disease type 4d
- elite association - COSMIC cancer census association via MalaCards
Search MYLIP in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYLIP

Genetic Association Database (GAD)
MYLIP
Human Genome Epidemiology (HuGE) Navigator
MYLIP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYLIP
genes like me logo Genes that share disorders with MYLIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYLIP Gene

Publications for MYLIP Gene

  1. Functional activities and cellular localization of the ezrin, radixin, moesin (ERM) and RING zinc finger domains in MIR. (PMID: 14550572) Bornhauser BC … Lindholm D (FEBS letters 2003) 3 4 22 60
  2. MSAP is a novel MIR-interacting protein that enhances neurite outgrowth and increases myosin regulatory light chain. (PMID: 12826659) Bornhauser BC … Lindholm D (The Journal of biological chemistry 2003) 3 4 22 60
  3. Neuronal expression of the ERM-like protein MIR in rat brain and its localization to human chromosome 6. (PMID: 11162443) Olsson PA … Lindholm D (Biochemical and biophysical research communications 2000) 2 3 22 60
  4. MIR is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. (PMID: 10593918) Olsson PA … Lindholm D (The Journal of biological chemistry 1999) 2 3 4 60
  5. Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. (PMID: 22331829) Chasman DI … Ridker PM (Circulation. Cardiovascular genetics 2012) 3 45 60

Products for MYLIP Gene

Sources for MYLIP Gene

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