IPO4 importin 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IPO4provided by HGNC
Official Full Name: importin 4provided by HGNC
Primary source: HGNC:HGNC:19426
See related: Ensembl:ENSG00000196497 AllianceGenome:HGNC:19426
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Imp4
Summary: Predicted to enable nuclear import signal receptor activity and nuclear localization sequence binding activity. Involved in DNA replication-dependent chromatin assembly; DNA replication-independent chromatin assembly; and protein import into nucleus. Located in chromatin. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 33.8), thyroid (RPKM 8.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q12

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24180219..24188816, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18378529..18387126, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (24649425..24658022, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Inhibiting Importin 4-mediated nuclear import of CEBPD enhances chemosensitivity by repression of PRKDC-driven DNA damage repair in cervical cancer.
Title: Inhibiting Importin 4-mediated nuclear import of CEBPD enhances chemosensitivity by repression of PRKDC-driven DNA damage repair in cervical cancer.
Importin-4 functions as a driving force in human primary gastric cancer.
Title: Importin-4 functions as a driving force in human primary gastric cancer.
Importins, Impbeta, Kapbeta2, Imp4, Imp5, Imp7, Imp9, and Impalpha, show the H3 tail binding more tightly than the H4 tail. The H3 tail binds Kapbeta2 and Imp5 with KD values of 77 and 57 nm, respectively, and binds the other five Importins more weakly.
Title: Recognition Elements in the Histone H3 and H4 Tails for Seven Different Importins.
Study identified a core region encompassing nt - 118 to + 108 of IPO4 gene that is necessary for its promoter activity. Transcription factors binding to this region were screened, resulting in the identification of two members of the Ets family, Ets-like transcription factor-1 and GA binding protein, which repress or activate its promoter activity, respectively.
Title: Competitive regulation of IPO4 transcription by ELK1 and GABP.
report a function of IPO4 and nuclear import in the Fanconi anemia pathway of DNA repair
Title: CCAAT/enhancer binding protein delta (C/EBPdelta, CEBPD)-mediated nuclear import of FANCD2 by IPO4 augments cellular response to DNA damage.
importins 4 and 7 accomplish nuclear import of HIF-1alpha more efficiently than the classical importin alpha/beta NLS receptor.
Title: Transport of hypoxia-inducible factor HIF-1alpha into the nucleus involves importins 4 and 7.
demonstrated that vitamin D receptor (VDR) has two nuclear import systems: ligand-dependent & ligand-independent pathways, & that importin 4 fulfills the ligand-independent nuclear transport through the interaction with the amino terminus of VDR
Title: Importin 4 is responsible for ligand-independent nuclear translocation of vitamin D receptor.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
integrase	gag-pol	HIV-1 IN is identified to have a physical interaction with importin 4 (IPO4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_13707-13708:1002916366:1 (e-PCR)
- UniSTS:267535

D14S689E (e-PCR)
- UniSTS:25364

A002A41 (e-PCR)
- UniSTS:17695

RH47154 (e-PCR)
- UniSTS:89148

RH70732 (e-PCR)
- UniSTS:5705

SHGC-57971 (e-PCR)
- UniSTS:94306

RH44766 (e-PCR)
- UniSTS:38650

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 import signal receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear localization sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear localization sequence binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: importin-4

Names: imp4b; importin-4b; ran-binding protein 4; ranBP4

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.

mRNA and Protein(s)

NM_024658.4 → NP_078934.3 importin-4

See identical proteins and their annotated locations for NP_078934.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript.

Source sequence(s)

AK056527, AK094897, BC003690

Consensus CDS

CCDS9616.1

UniProtKB/Swiss-Prot

B2RN95, Q2NL96, Q86TZ9, Q8NCG8, Q8TEX9, Q96SJ3, Q9BTI4, Q9H5L0

UniProtKB/TrEMBL

B3KQ33

Related

ENSP00000346453.6, ENST00000354464.11

Conserved Domains (4) summary

smart00913
Location:24 → 90

IBN_N; Importin-beta N-terminal domain

cd00020
Location:355 → 467

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, ...

pfam13646
Location:392 → 505

HEAT_2; HEAT repeats

sd00044
Location:353 → 381

HEAT; HEAT repeat [structural motif]

RNA

NR_051979.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate segment in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK094897, BC144399

Related

ENST00000560155.5