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KPNA7 karyopherin subunit alpha 7 [ Homo sapiens (human) ]

Gene ID: 402569, updated on 21-Apr-2019

Summary

Official Symbol
KPNA7provided by HGNC
Official Full Name
karyopherin subunit alpha 7provided by HGNC
Primary source
HGNC:HGNC:21839
See related
Ensembl:ENSG00000185467 MIM:614107
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
IPOA8
Summary
The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]
Expression
Biased expression in stomach (RPKM 1.6), gall bladder (RPKM 0.1) and 3 other tissues See more
Orthologs

Genomic context

See KPNA7 in Genome Data Viewer
Location:
7q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (99145467..99219417, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98771197..98805089, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transformation/transcription domain associated protein Neighboring gene ring finger protein 14 pseudogene Neighboring gene uncharacterized LOC101927550 Neighboring gene SMAD specific E3 ubiquitin protein ligase 1 Neighboring gene uncharacterized LOC105375421 Neighboring gene myosin heavy chain 16 pseudogene Neighboring gene actin related protein 2/3 complex subunit 1A

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
NHGRI GWA Catalog

Pathways from BioSystems

  • Antiviral mechanism by IFN-stimulated genes, organism-specific biosystem (from REACTOME)
    Antiviral mechanism by IFN-stimulated genes, organism-specific biosystemThe ISG proteins generated by IFN pathways plays key roles in the induction of innate and adaptive immune responses.
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Host Interactions with Influenza Factors, organism-specific biosystem (from REACTOME)
    Host Interactions with Influenza Factors, organism-specific biosystemInfection of a human host cell with influenza virus triggers an array of host processes that interfere with viral replication, notably the production of type I interferon. The viral NS1 protein plays...
  • ISG15 antiviral mechanism, organism-specific biosystem (from REACTOME)
    ISG15 antiviral mechanism, organism-specific biosystemInterferon-stimulated gene 15 (ISG15) is a member of the ubiquitin-like (Ubl) family. It is strongly induced upon exposure to type I Interferons (IFNs), viruses, bacterial LPS, and other stresses. On...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Influenza Infection, organism-specific biosystem (from REACTOME)
    Influenza Infection, organism-specific biosystemFor centuries influenza epidemics have plagued man, and influenza was probably the disease described by Hippocrates in 412 BC. Today it remains a major cause of morbidity and mortality worldwide with...
  • Interferon Signaling, organism-specific biosystem (from REACTOME)
    Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
  • NS1 Mediated Effects on Host Pathways, organism-specific biosystem (from REACTOME)
    NS1 Mediated Effects on Host Pathways, organism-specific biosystemViral NS1 protein is a nuclear, dimeric protein that is highly expressed in infected cells and has dsRNA-binding activity. The RNA-binding domain lies within the N-terminal portion of the protein. Th...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nuclear import signal receptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blastocyst development IEA
Inferred from Electronic Annotation
more info
 
modulation by virus of host process TAS
Traceable Author Statement
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of histone H3-K27 trimethylation IEA
Inferred from Electronic Annotation
more info
 
protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
spindle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
importin subunit alpha-8
Names
karyopherin alpha 7

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_051213.1 RefSeqGene

    Range
    16929..50844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145715.2NP_001139187.1  importin subunit alpha-8

    See identical proteins and their annotated locations for NP_001139187.1

    Status: REVIEWED

    Source sequence(s)
    AC073468, AW193472, EU126604
    Consensus CDS
    CCDS47651.1
    UniProtKB/Swiss-Prot
    A9QM74
    Related
    ENSP00000330878.6, ENST00000327442.6
    Conserved Domains (5) summary
    COG5064
    Location:7507
    SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
    cd00020
    Location:108228
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam01749
    Location:792
    IBB; Importin beta binding domain
    pfam16186
    Location:448497
    Arm_3; Atypical Arm repeat
    sd00043
    Location:109141
    ARM; armadillo repeat [structural motif]

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_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    99145467..99219417 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012211.1XP_016867700.1  importin subunit alpha-8 isoform X5

  2. XM_011516215.2XP_011514517.1  importin subunit alpha-8 isoform X3

    Conserved Domains (5) summary
    COG5064
    Location:34534
    SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
    cd00020
    Location:135255
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam01749
    Location:34119
    IBB; Importin beta binding domain
    pfam16186
    Location:475524
    Arm_3; Atypical Arm repeat
    sd00043
    Location:136168
    ARM; armadillo repeat [structural motif]
  3. XM_017012209.1XP_016867698.1  importin subunit alpha-8 isoform X2

  4. XM_017012215.1XP_016867704.1  importin subunit alpha-8 isoform X7

  5. XM_017012213.1XP_016867702.1  importin subunit alpha-8 isoform X6

  6. XM_017012208.1XP_016867697.1  importin subunit alpha-8 isoform X1

  7. XM_017012210.1XP_016867699.1  importin subunit alpha-8 isoform X4

  8. XM_017012214.1XP_016867703.1  importin subunit alpha-8 isoform X6

  9. XM_017012212.1XP_016867701.1  importin subunit alpha-8 isoform X6

  10. XM_017012216.1XP_016867705.1  importin subunit alpha-8 isoform X8

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_017852929.1 Reference GRCh38.p12 PATCHES

    Range
    81203..115118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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