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NACA nascent polypeptide associated complex subunit alpha [ Homo sapiens (human) ]

Gene ID: 4666, updated on 6-Jan-2019

Summary

Official Symbol
NACAprovided by HGNC
Official Full Name
nascent polypeptide associated complex subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:7629
See related
Ensembl:ENSG00000196531 MIM:601234
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSD48; NACA1; skNAC; NAC-alpha
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]
Expression
Ubiquitous expression in ovary (RPKM 104.2), bone marrow (RPKM 62.0) and 25 other tissues See more
Orthologs

Genomic context

See NACA in Genome Data Viewer
Location:
12q13.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (56712427..56726275, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57106211..57119326, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATP synthase F1 subunit beta Neighboring gene small nucleolar RNA, C/D box 59A Neighboring gene prostaglandin E synthase 3 Neighboring gene RNA, 7SL, cytoplasmic 809, pseudogene Neighboring gene DNA primase subunit 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of nascent polypeptide-associated complex alpha subunit in T-cell lines PubMed
Vif vif HIV-1 Vif interacts with NACA; predicted interaction to be relevant to gene regulation and/or protein folding/complex assembly PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117224

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nascent polypeptide-associated complex IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nascent polypeptide-associated complex subunit alpha
Names
alpha-NAC, muscle-specific form
nascent-polypeptide-associated complex alpha polypeptide
NP_001106672.1
NP_001106673.1
NP_001106674.2
NP_001307122.1
NP_001307123.1
NP_005585.1
XP_006719475.1
XP_006719476.1
XP_006719477.1
XP_006719481.1
XP_006719483.1
XP_011536691.1
XP_016874826.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030341.1 RefSeqGene

    Range
    5001..18116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001113201.2NP_001106672.1  nascent polypeptide-associated complex subunit alpha isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains multiple differences in the 5' UTR and lacks three alternate exons in the central coding region, but maintains the reading frame, compared to variant 1. This variant encodes isoform b, which is shorter than isoform a. Variants 2, 3, 4, and 5, encode the same isoform (b).
    Source sequence(s)
    AC117378, AK223085, BC106041
    UniProtKB/Swiss-Prot
    Q13765
    UniProtKB/TrEMBL
    A0A024RB41
    Related
    ENSP00000447821.1, ENST00000552540.5
    Conserved Domains (2) summary
    cd14415
    Location:169214
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:82128
    NAC; NAC domain
  2. NM_001113202.1NP_001106673.1  nascent polypeptide-associated complex subunit alpha isoform b

    See identical proteins and their annotated locations for NP_001106673.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three alternate exons in the central coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform b, which is shorter than isoform a. Variants 2, 3, 4, and 5, encode the same isoform (b).
    Source sequence(s)
    AC117378, AK223085, CD246364, DB487006
    Consensus CDS
    CCDS31837.1
    UniProtKB/Swiss-Prot
    Q13765
    UniProtKB/TrEMBL
    A0A024RB41
    Related
    ENSP00000349212.3, ENST00000356769.7
    Conserved Domains (2) summary
    cd14415
    Location:169214
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:82128
    NAC; NAC domain
  3. NM_001113203.2NP_001106674.2  nascent polypeptide-associated complex subunit alpha isoform a

    Status: REVIEWED

    Source sequence(s)
    AC117378, AK096699, AK223085, DB487006
    Consensus CDS
    CCDS44925.2
    UniProtKB/Swiss-Prot
    Q13765
    Related
    ENSP00000448035.1, ENST00000550952.5
    Conserved Domains (3) summary
    COG1308
    Location:784925
    EGD2; Transcription factor homologous to NACalpha-BTF3 [Transcription]
    cd14415
    Location:879924
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:785838
    NAC; NAC domain
  4. NM_001320193.1NP_001307122.1  nascent polypeptide-associated complex subunit alpha isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR and lacks three alternate exons in the central coding region, but maintains the reading frame, compared to variant 1. This variant encodes isoform b, which is shorter than isoform a. Variants 2, 3, 4, and 5, encode the same isoform (b).
    Source sequence(s)
    AC117378, AK223085, BI856347, CD246364, DB487006
    Consensus CDS
    CCDS31837.1
    UniProtKB/Swiss-Prot
    Q13765
    UniProtKB/TrEMBL
    A0A024RB41
    Related
    ENSP00000446801.1, ENST00000546392.5
    Conserved Domains (2) summary
    cd14415
    Location:169214
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:82128
    NAC; NAC domain
  5. NM_001320194.1NP_001307123.1  nascent polypeptide-associated complex subunit alpha isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks three alternate exons in the central coding region and retains a segment in the 3' region, which results in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) is shorter than isoform a and has a distinct C-terminus.
    Source sequence(s)
    AK223085, AW021139, CD104788, CD246364, DB487006
    UniProtKB/Swiss-Prot
    Q13765
    Conserved Domains (2) summary
    cd14415
    Location:174213
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:82128
    NAC; NAC domain
  6. NM_001365896.1NP_001352825.1  nascent polypeptide-associated complex subunit alpha isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate segment and encodes a longer protein (isoform d) compared to variant 1.
    Source sequence(s)
    AC117378
    Conserved Domains (4) summary
    cd14415
    Location:20322077
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:19451991
    NAC; NAC domain
    cl26386
    Location:8184
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:12731839
    Atrophin-1; Atrophin-1 family
  7. NM_005594.5NP_005585.1  nascent polypeptide-associated complex subunit alpha isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in 5' UTR and lacks three alternate exons in the central coding region, but maintains the reading frame, compared to variant 1. This variant encodes isoform b, which is shorter than isoform a. Variants 2, 3, 4, and 5, encode the same isoform (b).
    Source sequence(s)
    AC117378, AK223085, BC105120, BG709003
    UniProtKB/Swiss-Prot
    Q13765
    UniProtKB/TrEMBL
    A0A024RB41
    Related
    ENSP00000377469.4, ENST00000393891.8
    Conserved Domains (2) summary
    cd14415
    Location:169214
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:82128
    NAC; NAC domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    56712427..56726275 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719412.1XP_006719475.1  nascent polypeptide-associated complex subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_006719475.1

    Conserved Domains (2) summary
    cd14415
    Location:20372076
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:19381991
    NAC; NAC domain
  2. XM_017019337.1XP_016874826.1  nascent polypeptide-associated complex subunit alpha isoform X3

  3. XM_011538389.1XP_011536691.1  nascent polypeptide-associated complex subunit alpha isoform X2

    UniProtKB/Swiss-Prot
    E9PAV3
    Related
    ENSP00000403817.1, ENST00000454682.5
    Conserved Domains (4) summary
    cd14415
    Location:20322077
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:19451991
    NAC; NAC domain
    cl26386
    Location:8184
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:12731839
    Atrophin-1; Atrophin-1 family
  4. XM_006719414.1XP_006719477.1  nascent polypeptide-associated complex subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_006719477.1

    Conserved Domains (2) summary
    cd14415
    Location:20372076
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:19381991
    NAC; NAC domain
  5. XM_006719418.1XP_006719481.1  nascent polypeptide-associated complex subunit alpha isoform X4

    See identical proteins and their annotated locations for XP_006719481.1

    Related
    ENSP00000447133.1, ENST00000549259.5
    Conserved Domains (2) summary
    cd14415
    Location:174213
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:82128
    NAC; NAC domain
  6. XM_006719413.2XP_006719476.1  nascent polypeptide-associated complex subunit alpha isoform X1

    See identical proteins and their annotated locations for XP_006719476.1

    Conserved Domains (2) summary
    cd14415
    Location:20372076
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:19381991
    NAC; NAC domain
  7. XM_006719420.4XP_006719483.1  nascent polypeptide-associated complex subunit alpha isoform X4

    See identical proteins and their annotated locations for XP_006719483.1

    Conserved Domains (2) summary
    cd14415
    Location:174213
    UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
    pfam01849
    Location:82128
    NAC; NAC domain
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