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Aliases for MYLIP Gene

Aliases for MYLIP Gene

  • Myosin Regulatory Light Chain Interacting Protein 2 3 4
  • MIR 3 4 6
  • E3 Ubiquitin Ligase-Inducible Degrader Of The Low Density Lipoprotein Receptor 2 3
  • Inducible Degrader Of The LDL-Receptor 3 4
  • IDOL 3 4
  • Myosin Regulatory Light Chain-Interacting Protein 3
  • Cellular Modulator Of Immune Recognition (C-MIR) 3
  • E3 Ubiquitin-Protein Ligase MYLIP 3
  • Band 4.1 Superfamily Member BZF1 3
  • EC 6.3.2.- 4
  • BZF1 4

External Ids for MYLIP Gene

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 abetalipoproteinemia. GO annotations related to this gene include ubiquitin-protein transferase activity and cytoskeletal protein binding. An important paralog of this gene is C1orf106.

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

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

Genomics for MYLIP Gene

Genomic Location for MYLIP Gene

Start:
16,129,046 bp from pter
End:
16,148,248 bp from pter
Size:
19,203 bases
Orientation:
Plus strand

Genomic View for MYLIP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYLIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYLIP Gene

Regulatory Elements 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

Proteomics data for MYLIP Gene at MOPED

Post-translational modifications for MYLIP Gene

Other Protein References for MYLIP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYLIP Gene

Domains for MYLIP Gene

UniProtKB/Swiss-Prot:

MYLIP_HUMAN
Domain:
  • The RING domain mediates ubiquitination and the neurite outgrowth inhibitory activity:
    • Q8WY64
  • The FERM domain binds phospholipids and mediates lipoprotein receptors recognition at the plasma membrane through their cytoplasmic tails:
    • Q8WY64
  • The RING-type zinc finger mediates the interaction with UBE2D E2 enzymes:
    • Q8WY64
  • Contains 1 FERM domain.:
    • Q8WY64
Similarity:
  • Contains 1 RING-type zinc finger.:
    • Q8WY64
genes like me logo Genes that share domains with MYLIP: view

No data available for Gene Families for MYLIP Gene

Function for MYLIP Gene

Molecular function for MYLIP Gene

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

Gene Ontology (GO) - Molecular Function for MYLIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 14550572
GO:0005515 protein binding IPI 12826659
GO:0008092 cytoskeletal protein binding IDA 10593918
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with MYLIP: view

Phenotypes for MYLIP Gene

GenomeRNAi human phenotypes for MYLIP:
genes like me logo Genes that share phenotypes with MYLIP: view

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for MYLIP Gene COMPARTMENTS Subcellular localization image for MYLIP gene
Compartment Confidence
plasma membrane 5
cytosol 3
cytoskeleton 2
nucleus 2
endosome 1
extracellular 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:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0019898 extrinsic component of membrane IEA --
genes like me logo Genes that share ontologies with MYLIP: view

Pathways for MYLIP Gene

SuperPathways for MYLIP Gene

No Data Available

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: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 14550572
GO:0031648 protein destabilization IEA --
genes like me logo Genes that share ontologies with MYLIP: view

No data available for Pathways by source for MYLIP Gene

Compounds for MYLIP Gene

(4) HMDB Compounds for MYLIP Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with MYLIP: view

Transcripts for MYLIP Gene

mRNA/cDNA for MYLIP Gene

Unigene Clusters for MYLIP Gene

Myosin regulatory light chain interacting protein:
Representative Sequences:

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 for MYLIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYLIP Gene

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.
genes like me logo Genes that share expressions with MYLIP: view

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 36
  • 99.78 (n)
  • 99.78 (a)
MYLIP 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYLIP 36
  • 88.86 (n)
  • 94.47 (a)
MYLIP 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYLIP 36
  • 89.5 (n)
  • 96.15 (a)
MYLIP 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mylip 36
  • 88.76 (n)
  • 96.18 (a)
Mylip 16
Mylip 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYLIP 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYLIP 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mylip 36
  • 90.56 (n)
  • 96.4 (a)
chicken
(Gallus gallus)
Aves MYLIP 36
  • 80.67 (n)
  • 91.69 (a)
MYLIP 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYLIP 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mylip 36
  • 76.33 (n)
  • 82.47 (a)
Str.8061 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
mylipa 36
  • 69.5 (n)
  • 77.47 (a)
mylipa 37
  • 71 (a)
OneToMany
mylipb 37
  • 62 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001609 36
  • 49.53 (n)
  • 39.79 (a)
fruit fly
(Drosophila melanogaster)
Insecta dnr1 36
  • 47.44 (n)
  • 36.88 (a)
dnr1 37
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nfm-1 37
  • 12 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9403 37
  • 35 (a)
OneToOne
Species with no ortholog for MYLIP:
  • 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 MAF
rs12109 -- 16,129,365(+) TGGAG(G/T)TGGAG reference, missense, utr-variant-5-prime
rs760632 -- 16,128,841(-) CTCTG(C/T)CCGCT upstream-variant-2KB
rs760633 -- 16,128,734(-) CCACT(C/G)TTCTT upstream-variant-2KB
rs909562 -- 16,130,102(-) GGTTT(C/T)CCAAA intron-variant
rs1011616 -- 16,132,178(-) TCCAA(A/G)CTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv5209 CNV Insertion 18451855

Relevant External Links for MYLIP Gene

HapMap Linkage Disequilibrium report
MYLIP
Human Gene Mutation Database (HGMD)
MYLIP

Disorders for MYLIP Gene

(1) MalaCards Diseases for MYLIP Gene

Search for MYLIP Gene in MalaCards »

Relevant External Links for MYLIP

Genetic Association Database (GAD)
MYLIP
Human Genome Epidemiology (HuGE) Navigator
MYLIP
genes like me logo Genes that share disorders with MYLIP: view

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

Publications for MYLIP Gene

  1. Neuronal expression of the ERM-like protein MIR in rat brain and its localization to human chromosome 6. (PMID: 11162443) Olsson P.A. … Lindholm D. (Biochem. Biophys. Res. Commun. 2000) 2 3 23
  2. MSAP is a novel MIR-interacting protein that enhances neurite outgrowth and increases myosin regulatory light chain. (PMID: 12826659) Bornhauser B.C. … Lindholm D. (J. Biol. Chem. 2003) 3 4 23
  3. Functional activities and cellular localization of the ezrin, radixin, moesin (ERM) and RING zinc finger domains in MIR. (PMID: 14550572) Bornhauser B.C. … Lindholm D. (FEBS Lett. 2003) 3 4 23
  4. MIR is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. (PMID: 10593918) Olsson P.-A. … Lindholm D. (J. Biol. Chem. 1999) 2 3 4
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 3 4

Products for MYLIP Gene

Sources for MYLIP Gene

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