NEMF - nuclear export mediator factor Gene

Also Known as RQC2; IDDSAPN; NY-CO-1; SDCCAG1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9147

About NEMF

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,782,083-49,852,788 (from NCBI)

This gene has 15 transcripts (splice variants), 203 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 12.2), thyroid (RPKM 10.8) and 25 other tissues.

Summary

This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin Ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]

NEMF Products (2)

mRNA Protein Name
NM_001301732.3 NP_001288661.2 ribosome quality control complex subunit NEMF isoform 2
NM_004713.6 NP_004704.3 ribosome quality control complex subunit NEMF isoform 1
Molecular Function GO Annotation Evidence References Source
enables alpha-aminoacyl-tRNA binding IDA
IDA: Inferred from direct assay
33406423 GOA
enables ribosomal large subunit binding IDA
IDA: Inferred from direct assay
25578875 GOA
Biological Process GO Annotation Evidence References Source
involved in CAT tailing IDA
IDA: Inferred from direct assay
33406423 GOA
involved in nuclear export IMP
IMP: Inferred from mutant phenotype
16103875 GOA
involved in protein-containing complex assembly IMP
IMP: Inferred from mutant phenotype
25578875 GOA
involved in rescue of stalled ribosome IDA
IDA: Inferred from direct assay
25578875 GOA
involved in ribosome-associated ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
25578875 GOA
Cellular Component GO Annotation Evidence References Source
part of RQC complex IDA
IDA: Inferred from direct assay
25578875 GOA
located in cytosol IDA
IDA: Inferred from direct assay
25578875 GOA
is active in cytosolic ribosome IDA
IDA: Inferred from direct assay
25578875 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

NEMF Protein Structure

FbpA

FbpA: Fibronectin-binding protein A N-terminus (FbpA) (7 - 513)

DUF814

DUF814: Domain of unknown function (DUF814) (532 - 630)

DUF3441

DUF3441: Domain of unknown function (DUF3441) (966 - 1068)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1076 a.a.
Protein Preferred Names Protein Names

ribosome quality control complex subunit NEMF

  • New-York Colon 1

Related Diseases

Diseases Alias
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
  • IDDSAPN

  • Intellectual Developmental Disorder, Speech Delay, Axonal Peripheral Neuropathy

Autosomal Recessive Non-Syndromic Intellectual Disability
  • Ar-Nsid

  • Ns-Arid

Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

Axonal Neuropathy
Polymicrogyria, Bilateral Temporooccipital
  • Bilateral Parasagittal Parieto-Occipital Polymicrogyria

  • BTOP

  • Bilateral Temporooccipital Polymicrogyria

  • Polymicrogyria

Attention Deficit-Hyperactivity Disorder
  • Attention Deficit Hyperactivity Disorder

  • ADHD

  • Attention Deficit Disorder

  • Attention Deficit-Hyperactivity Disorder, Susceptibility To

  • Attention Deficit Disorder With Hyperactivity

  • Hyperkinetic Disorder

  • Hyperactivity Of Childhood

  • Attention-Deficit/Hyperactivity Disorder

  • Add

  • Addh

  • Attention Deficit

  • Attention Deficit Disorder Of Childhood With Hyperactivity

  • Attention Deficit Disorder With Hyperactivity Syndrome

  • Hyperkinetic Syndrome

  • Attention-Deficit Hyperactivity Disorder

  • Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

  • Disturbance Of Activity And Attention

  • Disorder Of Activity And Attention

  • Adhd - [Attention Deficit Hyperactivity Disorder]

  • Hyperkinetic Disorders

  • Disorder Of Activity And Attention With Hyperkinesia

  • Attention Deficit Syndrome With Hyperactivity

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

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
Mus musculus NEMF MGD MGI:1918305
Macaca mulatta NEMF VGNC VGNC:84407
Canis familiaris NEMF VGNC VGNC:43741
Bos taurus NEMF VGNC VGNC:32004
Felis catus NEMF VGNC VGNC:63775
Rattus norvegicus NEMF RGD RGD:2315525
Others NEMF NCBI