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

Gene ID: 402569, updated on 23-Nov-2021

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
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Genomic context

See KPNA7 in Genome Data Viewer
Location:
7q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (99145467..99219417, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98771195..98805738, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transformation/transcription domain associated protein Neighboring gene uncharacterized LOC101927550 Neighboring gene RNF14 pseudogene 3 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nuclear import signal receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables nuclear localization sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in NLS-bearing protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in blastocyst development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of histone H3-K27 trimethylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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_001145715.3NP_001139187.1  importin subunit alpha-8

    See identical proteins and their annotated locations for NP_001139187.1

    Status: REVIEWED

    Source sequence(s)
    AC073468
    Consensus CDS
    CCDS47651.1
    UniProtKB/Swiss-Prot
    A9QM74
    Related
    ENSP00000330878.6, ENST00000327442.7
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 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.p13 PATCHES

Genomic

  1. NW_017852929.1 Reference GRCh38.p13 PATCHES

    Range
    81201..115744 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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