HUNK hormonally up-regulated Neu-associated kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: HUNKprovided by HGNC
Official Full Name: hormonally up-regulated Neu-associated kinaseprovided by HGNC
Primary source: HGNC:HGNC:13326
See related: Ensembl:ENSG00000142149 MIM:606532; AllianceGenome:HGNC:13326
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
Summary: Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in intracellular signal transduction. Predicted to act upstream of or within protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in placenta (RPKM 1.4), colon (RPKM 1.2) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.11

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (31873020..32004064)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (30241343..30372246)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (33245333..33376377)

Chromosome 21 - NC_000021.9 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 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?

HUNK inhibits cargo uptake and lysosomal traffic in the caveolar pathway via the AGAP3/ARF6.
Title: HUNK inhibits cargo uptake and lysosomal traffic in the caveolar pathway via the AGAP3/ARF6.
HUNK inhibits epithelial-mesenchymal transition of CRC via direct phosphorylation of GEF-H1 and activating RhoA/LIMK-1/CFL-1.
Title: HUNK inhibits epithelial-mesenchymal transition of CRC via direct phosphorylation of GEF-H1 and activating RhoA/LIMK-1/CFL-1.
HUNK phosphorylates EGFR to regulate breast cancer metastasis.
Title: HUNK phosphorylates EGFR to regulate breast cancer metastasis.
Rubicon as a novel substrate of HUNK.
Title: HUNK Phosphorylates Rubicon to Support Autophagy.
Recent work demonstrates a role for Hunk in HER2(+)/ErbB2(+) breast cancer progression, including drug resistance to HER2/ErbB2 inhibitors, with Hunk potentially acting downstream of HER2/ErbB2 and the PI3K/Akt pathway. [review]
Title: Hormonally up-regulated neu-associated kinase: A novel target for breast cancer progression.
Our findings indicate that therapeutically targeting HUNK is a potential strategy for overcoming resistance and that resistant breast cancer cells maintain HUNK expression to drive tumorigenesis
Title: Regulation of cell survival by HUNK mediates breast cancer resistance to HER2 inhibitors.
Hunk is required for HER2/neu-induced mammary tumorigenesis
Title: Hunk is required for HER2/neu-induced mammary tumorigenesis.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Data show that HUNK reconstitution in basal breast cancer cell lines prevented protein phosphatase 2-A (PP2A from binding to CFL-1.
Title: HUNK suppresses metastasis of basal type breast cancers by disrupting the interaction between PP2A and cofilin-1.
a gene expression signature that distinguishes Hunk-wild type from Hunk-deficient tumors predicts clinical outcome in women with breast cancer
Title: The Snf1-related kinase, Hunk, is essential for mammary tumor metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

EBI GWAS Catalog

Description
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. 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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Markers

D21S261 (e-PCR), detects polymorphism
- UniSTS:2565

D21S261 (e-PCR), detects polymorphism
- UniSTS:278

SHGC-14065 (e-PCR)
- UniSTS:50460

SHGC-51915 (e-PCR)
- UniSTS:38994

L18426 (e-PCR)
- UniSTS:34648

D21S1966 (e-PCR)
- UniSTS:15451

SHGC-87581 (e-PCR)
- UniSTS:66911

SHGC-6824 (e-PCR)
- UniSTS:86887

D21S63 (e-PCR)
- UniSTS:148862

SHGC-106436 (e-PCR)
- UniSTS:169868

GDB:631802 (e-PCR)
- UniSTS:158429

D21S312 (e-PCR)
- UniSTS:147696

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: hormonally up-regulated neu tumor-associated kinase

Names: B19; hormonally upregulated Neu-associated kinase; hormonally upregulated neu tumor-associated kinase; serine/threonine protein kinase MAK-V

NP_055401.1

EC 2.7.11.1

XP_011527839.1

EC 2.7.11.1

XP_054180424.1

EC 2.7.11.1

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_014586.2 → NP_055401.1 hormonally up-regulated neu tumor-associated kinase

See identical proteins and their annotated locations for NP_055401.1

Status: VALIDATED

Source sequence(s)

AJ271722, AP000256

Consensus CDS

CCDS13610.1

UniProtKB/Swiss-Prot

P57058

Related

ENSP00000270112.2, ENST00000270112.7

Conserved Domains (2) summary

smart00220
Location:61 → 320

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14070
Location:58 → 320

STKc_HUNK; Catalytic domain of the Serine/Threonine Kinase, Hormonally up-regulated Neu-associated kinase (also called MAK-V)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

31873020..32004064

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529537.3 → XP_011527839.1 hormonally up-regulated neu tumor-associated kinase isoform X1

Conserved Domains (2) summary

smart00220
Location:61 → 320

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14070
Location:58 → 320

STKc_HUNK; Catalytic domain of the Serine/Threonine Kinase, Hormonally up-regulated Neu-associated kinase (also called MAK-V)