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

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; AllianceGenome:HGNC:21839
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; OZEMA17
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: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (99145804..99219419, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (100406814..100455185, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (98771195..98805738, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding.
Title: An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding.
KPNA7, an isoform with expression mostly limited to early development, can bind Importin-beta (Imp-beta) in the absence of NLS cargo.
Title: Characterization of the Importin-β binding domain in nuclear import receptor KPNA7.
KPNA7 has a critical role in the regulation of mitosis through the proper organization of the mitotic spindle and acts in the maintenance of the nuclear envelope structure and nuclear morphology.
Title: Depletion of nuclear import protein karyopherin alpha 7 (KPNA7) induces mitotic defects and deformation of nuclei in cancer cells.
KPNA7 binding and nuclear transfer was validated for two proteins, MVP and ZNF414. MVP and ZNF414 have a key role in the regulation of pancreatic cancer cell growth.
Title: Search for KPNA7 cargo proteins in human cells reveals MVP and ZNF414 as novel regulators of cancer cell growth.
Our data show that compound heterozygous mutations in KPNA7 are associated with a human neurodevelopmental disease, and provide the first example of a human disease associated with mutation of a nuclear transport receptor.
Title: Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Bel1 fragment with residues 215-223, which bears the NLS, interacts with KPNA1, KPNA6, and KPNA7.
Title: [Identification of prototype foamy virus Bel1 nuclear localization signal and its corresponding importins].
KPNA7 silencing inhibits the malignant properties of pancreatic cancer cells in vitro and thereby provide the first evidence on the functional role for KPNA7 in human cancer.
Title: KPNA7, a nuclear transport receptor, promotes malignant properties of pancreatic cancer cells in vitro.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oocyte/zygote/embryo maturation arrest 17 MedGen: C5830418 OMIM: 620319 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear import signal receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear localization sequence binding	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in blastocyst development	IEA Inferred from Electronic Annotation more info
involved_in epigenetic regulation of gene expression	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 protein import into nucleus	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of NLS-dependent protein nuclear import complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in female germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	NAS Non-traceable Author Statement 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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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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

NG_051213.1 RefSeqGene

Range

16303..50846

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145715.3 → NP_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

A4D277, A9QM74

Related

ENSP00000330878.6, ENST00000327442.7

Conserved Domains (5) summary

COG5064
Location:7 → 507

SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]

cd00020
Location:108 → 228

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:7 → 92

IBB; Importin beta binding domain

pfam16186
Location:448 → 497

Arm_3; Atypical Arm repeat

sd00043
Location:109 → 141

ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

99145804..99219419 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017012211.2 → XP_016867700.1 importin subunit alpha-8 isoform X8
XM_011516215.3 → XP_011514517.1 importin subunit alpha-8 isoform X3

Conserved Domains (5) summary

COG5064
Location:34 → 534

SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]

cd00020
Location:135 → 255

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:34 → 119

IBB; Importin beta binding domain

pfam16186
Location:475 → 524

Arm_3; Atypical Arm repeat

sd00043
Location:136 → 168

ARM; armadillo repeat [structural motif]
XM_017012213.2 → XP_016867702.1 importin subunit alpha-8 isoform X5
XM_017012209.2 → XP_016867698.1 importin subunit alpha-8 isoform X2
XM_017012215.2 → XP_016867704.1 importin subunit alpha-8 isoform X6
XM_017012208.2 → XP_016867697.1 importin subunit alpha-8 isoform X1
XM_017012210.2 → XP_016867699.1 importin subunit alpha-8 isoform X4
XM_017012214.2 → XP_016867703.1 importin subunit alpha-8 isoform X5
XM_017012212.2 → XP_016867701.1 importin subunit alpha-8 isoform X5
XM_017012216.2 → XP_016867705.1 importin subunit alpha-8 isoform X7