1. Gene
  2. MYLIP - myosin regulatory light chain interacting protein Gene

MYLIP - myosin regulatory light chain interacting protein Gene

Homo sapiens

Also known as MIR; IDOL

Gene ID: 29116 | Gene type: protein coding

About MYLIP

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:16,129,086-16,163,887 (from NCBI)

This gene has 2 transcripts (splice variants), 230 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in placenta (RPKM 42.5), bone marrow (RPKM 32.5) and 23 other tissues.

Summary

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]

MYLIP Products(1)

mRNA Protein Name
NM_013262.4 NP_037394.2 E3 ubiquitin-protein ligase MYLIP
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables cytoskeletal protein binding IDA
IDA: Inferred from direct assay
10593918 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12826659 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
21685362 GOA
enables ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
14550572 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of neuron projection development IMP
IMP: Inferred from mutant phenotype
10593918 GOA
involved in nervous system development IMP
IMP: Inferred from mutant phenotype
10593918 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
14550572 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYLIP Protein Structure

FERM_N

FERM_N: FERM N-terminal domain (5 - 82)

FERM_M

FERM_M: FERM central domain (84 - 190)

zf-C3HC4_3

zf-C3HC4_3: Zinc finger, C3HC4 type (RING finger) (385 - 428)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 445 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase MYLIP

E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor

Related Diseases

Diseases Alias
Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive

Arh

FHCL4

Autosomal Recessive Hypercholesterolemia

Arh1

Arh2

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Fhcb1

Fhcb2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Arh1, Formerly

Fhcb1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Arh2, Formerly

Fhcb2, Formerly

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Autosomal Recessive

Hypercholesterolemia, Familial, Type 4

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta MYLIP VGNC VGNC:75000
Mus musculus MYLIP MGD MGI:2388271
Bos taurus MYLIP VGNC VGNC:31805
Felis catus MYLIP VGNC VGNC:63680
Rattus norvegicus MYLIP RGD RGD:1305761
Canis familiaris MYLIP VGNC VGNC:43548