HYOU1 hypoxia up-regulated 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HYOU1provided by HGNC
Official Full Name: hypoxia up-regulated 1provided by HGNC
Primary source: HGNC:HGNC:16931
See related: Ensembl:ENSG00000149428 MIM:601746; AllianceGenome:HGNC:16931
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: IMD59; Grp170; HSP12A; ORP150; GRP-170; ORP-150
Summary: The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Expression: Broad expression in thyroid (RPKM 93.3), testis (RPKM 55.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (119044188..119057205, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (119064550..119077556, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (118914899..118927916, complement)

Chromosome 11 - NC_000011.10 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?

HYOU1 promotes cell proliferation, migration, and invasion via the PI3K/AKT/FOXO1 feedback loop in bladder cancer.
Title: HYOU1 promotes cell proliferation, migration, and invasion via the PI3K/AKT/FOXO1 feedback loop in bladder cancer.
The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
Title: The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
Long non-coding RNA KCNQ1OT1 facilitates the progression of cervical cancer and tumor growth through modulating miR-296-5p/HYOU1 axis.
Title: Long non-coding RNA KCNQ1OT1 facilitates the progression of cervical cancer and tumor growth through modulating miR-296-5p/HYOU1 axis.
HYOU1 facilitates proliferation, invasion and glycolysis of papillary thyroid cancer via stabilizing LDHB mRNA.
Title: HYOU1 facilitates proliferation, invasion and glycolysis of papillary thyroid cancer via stabilizing LDHB mRNA.
Expression of HYOU1 via Reciprocal Crosstalk between NSCLC Cells and HUVECs Control Cancer Progression and Chemoresistance in Tumor Spheroids.
Title: Expression of HYOU1 via Reciprocal Crosstalk between NSCLC Cells and HUVECs Control Cancer Progression and Chemoresistance in Tumor Spheroids.
Long non-coding antisense RNA HYOU1-AS is essential to human breast cancer development through competitive binding hnRNPA1 to promote HYOU1 expression.
Title: Long non-coding antisense RNA HYOU1-AS is essential to human breast cancer development through competitive binding hnRNPA1 to promote HYOU1 expression.
Study found that the expression levels of HYOU1 were significantly upregulated in both EOC tissues and cell lines, and associated with advanced FIGO stage, LN metastasis, and shorter overall survival. In addition, high HYOU1 expression as an unfavorable factor for overall survival. Its inhibition of HYOU1 suppressed tumor proliferation and colony formation, as well as the migratory and invasive capacity.
Title: HYOU1 promotes cell growth and metastasis via activating PI3K/AKT signaling in epithelial ovarian cancer and predicts poor prognosis.
Serum level of ORP150 was significantly up-regulated in the diabetic nephropathy patients.ORP150 levels were positively correlated with proteinuria burden via mediating VEGF in the diabetic nephropathy.
Title: The 150-kDa oxygen-regulated protein (ORP150) regulates proteinuria in diabetic nephropathy via mediating VEGF.
we demonstrate that in the ER,Akita forms detergent-insoluble protein aggregates that entrap WT proinsulin. Strikingly, we find that two distinct ER quality-control pathways are deployed to limit the levels of these aggregates. First, Grp170 acts to prevent formation of detergent-insoluble Akita aggregates, which otherwise recruit and capture WT proinsulin.
Title: Cells Deploy a Two-Pronged Strategy to Rectify Misfolded Proinsulin Aggregates.
ORP150 and CHIP demonstrate antagonism under normal and stress conditions wherein they inversely regulate each other thus affecting BACE1 level.
Title: ORP150-CHIP chaperone antagonism control BACE1-mediated amyloid processing.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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
Granulocytopenia with immunoglobulin abnormality MedGen: C1856263 OMIM: 233600 GeneReviews: Not available	Compare labs

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
Envelope surface glycoprotein gp120	env	HIV-1 gp120 is identified to have a physical interaction with hypoxia up-regulated 1 (HYOU1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with HYOU1; predicted interaction to be within the endoplasmic reticulum and function as chaperone for endoplasmic reticulum-associated degradation	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of hypoxia up-regulated 1 (HYOU1) expression by HIV-1 Vpr in Vpr transduced macrophages	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

RH48731 (e-PCR)
- UniSTS:83020

D11S1001 (e-PCR)
- UniSTS:29798

NIB361 (e-PCR)
- UniSTS:79492

MARC_14873-14874:1010767189:1 (e-PCR)
- UniSTS:267760

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP-dependent protein folding chaperone	IEA Inferred from Electronic Annotation more info
enables adenyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to ischemia	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endocytic vesicle lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed
part_of endoplasmic reticulum chaperone complex	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in smooth endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: hypoxia up-regulated protein 1

Names: 150 kDa oxygen-regulated protein; 170 kDa glucose-regulated protein; epididymis secretory sperm binding protein; heat shock protein family H member 4; oxygen regulated protein (150kD)

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_001130991.3 → NP_001124463.1 hypoxia up-regulated protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001124463.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.

Source sequence(s)

AA580314, AK127324, AK299648, AK301514, BC072436, HY089857, U65785

Consensus CDS

CCDS8408.1

UniProtKB/Swiss-Prot

A8C1Z0, B7Z909, Q2I204, Q53H25, Q9Y4L1

UniProtKB/TrEMBL

A0A384P5T6, B3KXH0

Related

ENSP00000480248.2, ENST00000614711.5

Conserved Domains (2) summary

cl00478
Location:593 → 694

LGT; Prolipoprotein diacylglyceryl transferase

cl17037
Location:36 → 424

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
NM_001411041.1 → NP_001397970.1 hypoxia up-regulated protein 1 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AP003392, KF510357, KF511132

Consensus CDS

CCDS91604.1

UniProtKB/TrEMBL

A0A494C039, B3KXH0

Related

ENSP00000511601.1, ENST00000694935.1
NM_006389.5 → NP_006380.1 hypoxia up-regulated protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_006380.1

Status: REVIEWED

Description

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

Source sequence(s)

AA580314, AK127324, AK301514, BC072436, DC364982, HY089857, U65785

Consensus CDS

CCDS8408.1

UniProtKB/Swiss-Prot

A8C1Z0, B7Z909, Q2I204, Q53H25, Q9Y4L1

UniProtKB/TrEMBL

A0A384P5T6, B3KXH0

Related

ENSP00000480150.1, ENST00000617285.5

Conserved Domains (2) summary

cl00478
Location:593 → 694

LGT; Prolipoprotein diacylglyceryl transferase

cl17037
Location:36 → 424

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

119044188..119057205 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005271392.5 → XP_005271449.1 hypoxia up-regulated protein 1 isoform X1

See identical proteins and their annotated locations for XP_005271449.1

UniProtKB/TrEMBL

A0A494C039, B3KXH0

Related

ENSP00000498353.1, ENST00000652093.1

Conserved Domains (2) summary

PRK13108
Location:593 → 694

PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed

cl17037
Location:36 → 424

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
XM_017017097.2 → XP_016872586.1 hypoxia up-regulated protein 1 isoform X2

UniProtKB/Swiss-Prot

A8C1Z0, B7Z909, Q2I204, Q53H25, Q9Y4L1

UniProtKB/TrEMBL

A0A384P5T6, B3KXH0

Related

ENSP00000462951.2, ENST00000534233.6

Conserved Domains (2) summary

cl00478
Location:593 → 694

LGT; Prolipoprotein diacylglyceryl transferase

cl17037
Location:36 → 424

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
XM_005271393.4 → XP_005271450.1 hypoxia up-regulated protein 1 isoform X1

See identical proteins and their annotated locations for XP_005271450.1

UniProtKB/TrEMBL

A0A494C039, B3KXH0

Related

ENSP00000511598.1, ENST00000694932.1

Conserved Domains (2) summary

PRK13108
Location:593 → 694

PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed

cl17037
Location:36 → 424

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
XM_017017096.2 → XP_016872585.1 hypoxia up-regulated protein 1 isoform X2

UniProtKB/Swiss-Prot

A8C1Z0, B7Z909, Q2I204, Q53H25, Q9Y4L1

UniProtKB/TrEMBL

A0A384P5T6, B3KXH0

Related

ENSP00000431874.2, ENST00000530473.6

Conserved Domains (2) summary

cl00478
Location:593 → 694

LGT; Prolipoprotein diacylglyceryl transferase

cl17037
Location:36 → 424

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
XM_005271394.4 → XP_005271451.1 hypoxia up-regulated protein 1 isoform X1

See identical proteins and their annotated locations for XP_005271451.1

UniProtKB/TrEMBL

A0A494C039, B3KXH0

Conserved Domains (2) summary

PRK13108
Location:593 → 694

PRK13108; prolipoprotein diacylglyceryl transferase; Reviewed

cl17037
Location:36 → 424

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
XM_047426254.1 → XP_047282210.1 hypoxia up-regulated protein 1 isoform X3

UniProtKB/TrEMBL

A0A8Q3SHG4, K7EQK2

Related

ENSP00000511599.1, ENST00000694933.1

Reference GRCh38.p14 PATCHES

Genomic

NW_009646203.1 Reference GRCh38.p14 PATCHES

Range

65787..78804 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331611.1 → XP_054187586.1 hypoxia up-regulated protein 1 isoform X1

UniProtKB/TrEMBL

A0A494C039, B3KXH0
XM_054331614.1 → XP_054187589.1 hypoxia up-regulated protein 1 isoform X2

UniProtKB/Swiss-Prot

A8C1Z0, B7Z909, Q2I204, Q53H25, Q9Y4L1

UniProtKB/TrEMBL

A0A384P5T6, B3KXH0
XM_054331615.1 → XP_054187590.1 hypoxia up-regulated protein 1 isoform X2

UniProtKB/Swiss-Prot

A8C1Z0, B7Z909, Q2I204, Q53H25, Q9Y4L1

UniProtKB/TrEMBL

A0A384P5T6, B3KXH0
XM_054331612.1 → XP_054187587.1 hypoxia up-regulated protein 1 isoform X1

UniProtKB/TrEMBL

A0A494C039, B3KXH0
XM_054331613.1 → XP_054187588.1 hypoxia up-regulated protein 1 isoform X1

UniProtKB/TrEMBL

A0A494C039, B3KXH0
XM_054331616.1 → XP_054187591.1 hypoxia up-regulated protein 1 isoform X3

UniProtKB/TrEMBL

A0A8Q3SHG4, K7EQK2

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

119064550..119077556 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054367470.1 → XP_054223445.1 hypoxia up-regulated protein 1 isoform X1

UniProtKB/TrEMBL

A0A494C039, B3KXH0
XM_054367473.1 → XP_054223448.1 hypoxia up-regulated protein 1 isoform X2

UniProtKB/Swiss-Prot

A8C1Z0, B7Z909, Q2I204, Q53H25, Q9Y4L1

UniProtKB/TrEMBL

A0A384P5T6, B3KXH0
XM_054367474.1 → XP_054223449.1 hypoxia up-regulated protein 1 isoform X2

UniProtKB/Swiss-Prot

A8C1Z0, B7Z909, Q2I204, Q53H25, Q9Y4L1

UniProtKB/TrEMBL

A0A384P5T6, B3KXH0
XM_054367471.1 → XP_054223446.1 hypoxia up-regulated protein 1 isoform X1

UniProtKB/TrEMBL

A0A494C039, B3KXH0
XM_054367472.1 → XP_054223447.1 hypoxia up-regulated protein 1 isoform X1

UniProtKB/TrEMBL

A0A494C039, B3KXH0
XM_054367475.1 → XP_054223450.1 hypoxia up-regulated protein 1 isoform X3

UniProtKB/TrEMBL

A0A8Q3SHG4, K7EQK2