NACA - nascent polypeptide associated complex subunit alpha Gene

Also Known as HSD48; NACA1; skNAC; NAC-alpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4666

About NACA

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,712,427-56,725,299 (from NCBI)

This gene has 26 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 75 phenotypes. Ubiquitous expression in ovary (RPKM 104.2), bone marrow (RPKM 62.0) and 25 other tissues.

Summary

This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]

NACA Products (7)

mRNA Protein Name
NM_001113201.3 NP_001106672.1 nascent polypeptide-associated complex subunit alpha isoform b
NM_001113202.2 NP_001106673.1 nascent polypeptide-associated complex subunit alpha isoform b
NM_001113203.3 NP_001106674.2 nascent polypeptide-associated complex subunit alpha isoform a
NM_001320193.2 NP_001307122.1 nascent polypeptide-associated complex subunit alpha isoform b
NM_001320194.2 NP_001307123.1 nascent polypeptide-associated complex subunit alpha isoform c
NM_001365896.1 NP_001352825.1 nascent polypeptide-associated complex subunit alpha isoform d
NM_005594.6 NP_005585.1 nascent polypeptide-associated complex subunit alpha isoform b
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
21903422 GOA
Biological Process GO Annotation Evidence Références Source
involved in negative regulation of protein localization to endoplasmic reticulum IDA
IDA: Inferred from direct assay
10982809 GOA
Cellular Component GO Annotation Evidence Références Source
located in cytoplasm IDA
IDA: Inferred from direct assay
10982809 GOA
part of nascent polypeptide-associated complex IPI
IPI: Inferred from physical interaction
20214399 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

NACA Protein Structure

NAC

NAC: NAC domain (73 - 130)

  • 0
  • 100
  • 200
  • 215 a.a.
Protein Preferred Names Protein Names

nascent polypeptide-associated complex subunit alpha

  • alpha-NAC, muscle-specific form

NACA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
NACA Q13765 TXLNA Homo sapiens P40222 21903422
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Skeletal Muscle Neoplasm
  • Tumor Of Skeletal Muscle

Wolf-Hirschhorn Syndrome
  • Pitt-Rogers-Danks Syndrome

  • WHS

  • Chromosome 4p16.3 Deletion Syndrome

  • Wittwer Syndrome

  • 4p- Syndrome

  • Pitt Syndrome

  • 4p Deletion Syndrome

  • Distal Deletion 4p

  • Distal Monosomy 4p

  • Telomeric Deletion 4p

  • Prds

  • 4p Syndrome

  • Chromosome 4p Syndrome

  • Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

  • Wolf Syndrome

  • Chromosome 4p Deletion Syndrome

  • Chromosome 4p Monosomy

  • Del Syndrome

  • Monosomy 4p

  • Partial Monosomy 4p

  • Chromosome 4 Short Arm Deletion

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
Rattus norvegicus NACA RGD RGD:1308642
Mus musculus NACA MGD MGI:106095