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Aliases for KPNA2 Gene

Aliases for KPNA2 Gene

  • Karyopherin Alpha 2 (RAG Cohort 1, Importin Alpha 1) 2 3
  • RCH1 3 4 6
  • Karyopherin Subunit Alpha-2 3 4
  • RAG Cohort Protein 1 3 4
  • SRP1-Alpha 3 4
  • QIP2 3 6
  • Importin Subunit Alpha-1 3
  • Importin Subunit Alpha-2 3
  • Importin-Alpha-P1 3
  • Importin Alpha 1 3
  • Importin Alpha 2 3
  • RAG Cohort 1 3
  • SRP1alpha 3
  • Pendulin 3
  • IPOA1 3
  • SRP1 4

External Ids for KPNA2 Gene

Previous Symbols for KPNA2 Gene

  • RCH1

Summaries for KPNA2 Gene

Entrez Gene Summary for KPNA2 Gene

  • The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination [provided by RefSeq, Jul 2008]

GeneCards Summary for KPNA2 Gene

KPNA2 (Karyopherin Alpha 2 (RAG Cohort 1, Importin Alpha 1)) is a Protein Coding gene. Diseases associated with KPNA2 include borna disease. Among its related pathways are GPCR Pathway and Interferon Signaling. GO annotations related to this gene include histone deacetylase binding and nuclear localization sequence binding. An important paralog of this gene is KPNA1.

UniProtKB/Swiss-Prot for KPNA2 Gene

  • Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus

Gene Wiki entry for KPNA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KPNA2 Gene

Genomics for KPNA2 Gene

Genomic Location for KPNA2 Gene

Start:
68,035,519 bp from pter
End:
68,046,854 bp from pter
Size:
11,336 bases
Orientation:
Plus strand

Genomic View for KPNA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KPNA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KPNA2 Gene

Regulatory Elements for KPNA2 Gene

Proteins for KPNA2 Gene

  • Protein details for KPNA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52292-IMA1_HUMAN
    Recommended name:
    Importin subunit alpha-1
    Protein Accession:
    P52292
    Secondary Accessions:
    • B9EJD6
    • Q53YE3
    • Q9BRU5

    Protein attributes for KPNA2 Gene

    Size:
    529 amino acids
    Molecular mass:
    57862 Da
    Quaternary structure:
    • Heterodimer; with KPNB1. Interacts with ANP32E (By similarity). Component of a complex containing CSE1L, RAN and KPNA2. Interacts directly with CSE1L. Interacts with HIV-1 Vpr and PLAG1. Interacts with APEX1 (via N-terminus). Interacts with FRG1 (via N-terminus). Interacts with ARL4A, CTNNBL1 and NBN. Interacts with SNAI1 (via zinc fingers) and SNAI2 (via zinc fingers).

    Three dimensional structures from OCA and Proteopedia for KPNA2 Gene

neXtProt entry for KPNA2 Gene

Proteomics data for KPNA2 Gene at MOPED

Post-translational modifications for KPNA2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys83, Lys108, Lys123, Lys240, Lys291, Lys300, Lys353, and Lys486

Other Protein References for KPNA2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KPNA2 Gene

Domains for KPNA2 Gene

Gene Families for KPNA2 Gene

HGNC:
  • ARMC :Armadillo repeat containing
  • IPO :Importins

UniProtKB/Swiss-Prot:

IMA1_HUMAN
Domain:
  • Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a short hydrophilic C-terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB domain), which is sufficient for binding importin beta and essential for nuclear protein import.:
    • P52292
  • The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS-containing proteins (By similarity).:
    • P52292
  • The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding (By similarity).:
    • P52292
  • Contains 1 IBB domain.:
    • P52292
Family:
  • Belongs to the importin alpha family.:
    • P52292
Similarity:
  • Contains 10 ARM repeats.:
    • P52292
genes like me logo Genes that share domains with KPNA2: view

Function for KPNA2 Gene

Molecular function for KPNA2 Gene

GENATLAS Biochemistry: karyopherin (importin) alpha 2,56kDa,component of the nuclear protein complex (NPC),yeast SRP1 and Xenopus importin homolog,involved in the nuclear transport system,recognizing the nuclear localization signal of nuclear proteins (NLS)
UniProtKB/Swiss-Prot Function: Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus

Gene Ontology (GO) - Molecular Function for KPNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 10980193
GO:0008139 nuclear localization sequence binding IDA 17324944
GO:0008565 protein transporter activity IEA --
GO:0042826 histone deacetylase binding IPI 10869435
genes like me logo Genes that share ontologies with KPNA2: view

Phenotypes for KPNA2 Gene

GenomeRNAi human phenotypes for KPNA2:
genes like me logo Genes that share phenotypes with KPNA2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KPNA2 Gene

Localization for KPNA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KPNA2 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KPNA2 Gene COMPARTMENTS Subcellular localization image for KPNA2 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for KPNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with KPNA2: view

Pathways for KPNA2 Gene

genes like me logo Genes that share pathways with KPNA2: view

Gene Ontology (GO) - Biological Process for KPNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000018 regulation of DNA recombination TAS 8016130
GO:0006259 DNA metabolic process TAS 9168958
GO:0006606 protein import into nucleus --
GO:0006607 NLS-bearing protein import into nucleus IDA 17324944
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with KPNA2: view

Compounds for KPNA2 Gene

(1) HMDB Compounds for KPNA2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(1) Novoseek inferred chemical compound relationships for KPNA2 Gene

Compound -log(P) Hits PubMed IDs
zinc 0 1
genes like me logo Genes that share compounds with KPNA2: view

Transcripts for KPNA2 Gene

Unigene Clusters for KPNA2 Gene

Karyopherin alpha 2 (RAG cohort 1, importin alpha 1):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KPNA2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - - - -
SP6: -
SP7: - - -
SP8: - -
SP9:

ExUns: 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for KPNA2 Gene

GeneLoc Exon Structure for
KPNA2
ECgene alternative splicing isoforms for
KPNA2

Expression for KPNA2 Gene

mRNA expression in normal human tissues for KPNA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KPNA2 Gene

This gene is overexpressed in Testis (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KPNA2 Gene

SOURCE GeneReport for Unigene cluster for KPNA2 Gene Hs.594238

mRNA Expression by UniProt/SwissProt for KPNA2 Gene

P52292-IMA1_HUMAN
Tissue specificity: Expressed ubiquitously
genes like me logo Genes that share expressions with KPNA2: view

Orthologs for KPNA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KPNA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KPNA2 36
  • 98.44 (n)
  • 97.72 (a)
KPNA2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KPNA2 36
  • 90.99 (n)
  • 95.27 (a)
KPNA2 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 97 (a)
OneToMany
-- 37
  • 96 (a)
OneToMany
KPNA2 36
  • 93.51 (n)
  • 97.73 (a)
KPNA2 37
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gm10184 37
  • 95 (a)
OneToMany
Kpna2 36
  • 87.59 (n)
  • 94.52 (a)
Kpna2 16
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 85 (a)
OneToMany
-- 37
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KPNA2 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kpna2 36
  • 87.27 (n)
  • 94.9 (a)
chicken
(Gallus gallus)
Aves KPNA2 36
  • 77.27 (n)
  • 83.52 (a)
KPNA2 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KPNA2 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia kpna2-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia kpna2 36
  • 70.41 (n)
  • 77.52 (a)
Str.6468 36
zebrafish
(Danio rerio)
Actinopterygii hmzeh0389 36
kpna2 36
  • 68.2 (n)
  • 73.75 (a)
kpna2 37
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009792 36
  • 54.16 (n)
  • 52.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pen 36
  • 54.47 (n)
  • 51.66 (a)
Pen 38
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea ima-2 37
  • 37 (a)
OneToMany
ima-2 38
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 48 (a)
OneToMany
Species with no ortholog for KPNA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KPNA2 Gene

ENSEMBL:
Gene Tree for KPNA2 (if available)
TreeFam:
Gene Tree for KPNA2 (if available)

Paralogs for KPNA2 Gene

Paralogs for KPNA2 Gene

Selected SIMAP similar genes for KPNA2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with KPNA2: view

Variants for KPNA2 Gene

Sequence variations from dbSNP and Humsavar for KPNA2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs4638 -- 68,043,234(+) GAAGT(A/G)TTAGC reference, synonymous-codon
rs12752 -- 68,035,784(+) CGCCC(C/T)ACAGC utr-variant-5-prime
rs14515 -- 68,046,808(+) TCTTG(C/G)AGCAT utr-variant-3-prime
rs1059424 -- 68,046,632(+) TACTA(C/T)GTTTG utr-variant-3-prime
rs1059433 -- 68,046,611(+) CTGAG(A/G)CATAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KPNA2 Gene

Variant ID Type Subtype PubMed ID
nsv436233 CNV Deletion 17901297
esv2716136 CNV Deletion 23290073
esv2716138 CNV Deletion 23290073

Relevant External Links for KPNA2 Gene

HapMap Linkage Disequilibrium report
KPNA2

Disorders for KPNA2 Gene

(1) MalaCards Diseases for KPNA2 Gene

Search for KPNA2 Gene in MalaCards »

(1) Novoseek inferred disease relationships for KPNA2 Gene

Disease -log(P) Hits PubMed IDs
tumors 0 7

Relevant External Links for KPNA2

Genetic Association Database (GAD)
KPNA2
Human Genome Epidemiology (HuGE) Navigator
KPNA2
genes like me logo Genes that share disorders with KPNA2: view

No data available for UniProtKB/Swiss-Prot for KPNA2 Gene

Publications for KPNA2 Gene

  1. Mammalian karyopherin alpha 1 beta and alpha 2 beta heterodimers: alpha 1 or alpha 2 subunit binds nuclear localization signal and beta subunit interacts with peptide repeat-containing nucleoporins. (PMID: 7604027) Moroianu J. … Radu A. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23
  2. Genomic structure of karyopherin alpha2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome. (PMID: 11735022) Doerr S. … Hansmann I. (Hum. Genet. 2001) 3 4 23
  3. Importin KPNA2 is required for proper nuclear localization and multiple functions of NBS1. (PMID: 16188882) Tseng S.-F. … Teng S.-C. (J. Biol. Chem. 2005) 3 4 23
  4. Rch1, a protein that specifically interacts with the RAG-1 recombination-activating protein. (PMID: 8016130) Cuomo C.A. … Oettinger M.A. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4
  5. Identification of hSRP1 alpha as a functional receptor for nuclear localization sequences. (PMID: 7754385) Weis K. … Lamond A.I. (Science 1995) 2 3 4

Products for KPNA2 Gene

  • Addgene plasmids for KPNA2

Sources for KPNA2 Gene

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