PROX1 prospero homeobox 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PROX1provided by HGNC
Official Full Name: prospero homeobox 1provided by HGNC
Primary source: HGNC:HGNC:9459
See related: Ensembl:ENSG00000117707 MIM:601546
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
Summary: The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Expression: Biased expression in liver (RPKM 20.2), adrenal (RPKM 5.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (213983239..214041510)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (214161316..214214853)

Chromosome 1 - NC_000001.11 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?

Slow-Cycling Cancer Stem Cells Regulate Progression and Chemoresistance in Colon Cancer.
Title: Slow-Cycling Cancer Stem Cells Regulate Progression and Chemoresistance in Colon Cancer.
The Impact of Transcription Factor Prospero Homeobox 1 on the Regulation of Thyroid Cancer Malignancy.
Title: The Impact of Transcription Factor Prospero Homeobox 1 on the Regulation of Thyroid Cancer Malignancy.
The Lymphatic Cell Environment Promotes Kaposi Sarcoma Development by Prox1-Enhanced Productive Lytic Replication of Kaposi Sarcoma Herpes Virus.
Title: The Lymphatic Cell Environment Promotes Kaposi Sarcoma Development by Prox1-Enhanced Productive Lytic Replication of Kaposi Sarcoma Herpes Virus.
Oncogenic Herpesvirus Engages Endothelial Transcription Factors SOX18 and PROX1 to Increase Viral Genome Copies and Virus Production.
Title: Oncogenic Herpesvirus Engages Endothelial Transcription Factors SOX18 and PROX1 to Increase Viral Genome Copies and Virus Production.
High tissue MMP14 expression predicts worse survival in gastric cancer, particularly with a low PROX1.
Title: High tissue MMP14 expression predicts worse survival in gastric cancer, particularly with a low PROX1.
Low PROX1 expression is associated with Follicular Thyroid Cancer.
Title: Transcription Factor Prospero Homeobox 1 (PROX1) as a Potential Angiogenic Regulator of Follicular Thyroid Cancer Dissemination.
Prox1 showed significant difference in expression according to chromogranin A and calcitonin immunohistochemical expression, with higher Prox1 expression in tumors with stronger chromogranin A or calcitonin staining
Title: Expression of Prox1 in Medullary Thyroid Carcinoma Is Associated with Chromogranin A and Calcitonin Expression and with Ki67 Proliferative Index, but Not with Prognosis.
PROX1 polymorphism is associated with type 2 diabetes.
Title: Role of metabolic syndrome and its components as mediators of the genetic effect on type 2 diabetes: A family-based study in China.
Our results revealed differences in postprandial metabolites from inflammatory and oxidative stress pathways, bile acids signaling, and lipid metabolism in PROX1 HR-genotype men.
Title: The Type 2 Diabetes Susceptibility PROX1 Gene Variants Are Associated with Postprandial Plasma Metabolites Profile in Non-Diabetic Men.
PROX1 is a transcriptional regulator of MMP14
Title: PROX1 is a transcriptional regulator of MMP14.

Submit: New GeneRIF Correction See all GeneRIFs (116)

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
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. GeneReviews: Not available
Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians. GeneReviews: Not available
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available
Multistage genomewide association study identifies a locus at 1q41 associated with rate of HIV-1 disease progression to clinical AIDS. GeneReviews: Not available
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. GeneReviews: Not available

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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Replication interactions

Interaction	Pubs
Knockdown of prospero homeobox 1 (PROX1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	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

SHGC-76345 (e-PCR)
- UniSTS:48903

SHGC-76335 (e-PCR)
- UniSTS:12571

D1S3515 (e-PCR)
- UniSTS:33852

RH78799 (e-PCR)
- UniSTS:80708

SHGC-76346 (e-PCR)
- UniSTS:21354

PROX1_8568 (e-PCR)
- UniSTS:467846

SHGC-31006 (e-PCR)
- UniSTS:19930

Homology

Homologs of the PROX1 gene: The PROX1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 338 organisms have orthologs with human gene PROX1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
DNA binding domain binding	IPI Inferred from Physical Interaction more info	PubMed
DNA-binding transcription factor activity	IC Inferred by Curator more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
LBD domain binding	IPI Inferred from Physical Interaction more info	PubMed
RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
nuclear receptor binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acinar cell differentiation	IEA Inferred from Electronic Annotation more info
aorta smooth muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
atrial cardiac muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
brain development	IEP Inferred from Expression Pattern more info	PubMed
branching involved in pancreas morphogenesis	IEA Inferred from Electronic Annotation more info
cell fate determination	IEA Inferred from Electronic Annotation more info
cerebellar granule cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
circadian rhythm	IEA Inferred from Electronic Annotation more info
dentate gyrus development	ISS Inferred from Sequence or Structural Similarity more info
dorsal spinal cord development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
embryonic retina morphogenesis in camera-type eye	IEP Inferred from Expression Pattern more info	PubMed
endocardium formation	ISS Inferred from Sequence or Structural Similarity more info
hepatocyte cell migration	IEA Inferred from Electronic Annotation more info
hepatocyte differentiation	IEP Inferred from Expression Pattern more info	PubMed
hepatocyte proliferation	IEA Inferred from Electronic Annotation more info
kidney development	IEP Inferred from Expression Pattern more info	PubMed
lens development in camera-type eye	IEP Inferred from Expression Pattern more info	PubMed
lens fiber cell morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
liver development	IEP Inferred from Expression Pattern more info	PubMed
lung development	IEP Inferred from Expression Pattern more info	PubMed
lymphangiogenesis	IDA Inferred from Direct Assay more info	PubMed
lymphatic endothelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
lymphatic endothelial cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of bile acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of viral genome replication	IDA Inferred from Direct Assay more info	PubMed
neural tube development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
neuronal stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
olfactory placode formation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
optic placode formation involved in camera-type eye formation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
otic placode formation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
pancreas development	IEP Inferred from Expression Pattern more info	PubMed
positive regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell cycle checkpoint	IEA Inferred from Electronic Annotation more info
positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cyclin-dependent protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
positive regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of forebrain neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of heart growth	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of neural precursor cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of sarcomere organization	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to nutrient levels	IEA Inferred from Electronic Annotation more info
retina morphogenesis in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info	PubMed
skeletal muscle thin filament assembly	ISS Inferred from Sequence or Structural Similarity more info
venous blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
ventricular cardiac muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
ventricular cardiac myofibril assembly	ISS Inferred from Sequence or Structural Similarity more info
ventricular septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
chromatin	ISA Inferred from Sequence Alignment more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: prospero homeobox protein 1

Names: homeobox prospero-like protein PROX1; prospero-related homeobox 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_001270616.2 → NP_001257545.1 prospero homeobox protein 1

See identical proteins and their annotated locations for NP_001257545.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC011700, AL606537

Consensus CDS

CCDS31021.1

UniProtKB/Swiss-Prot

Q92786

Related

ENSP00000355925.4, ENST00000366958.9

Conserved Domains (1) summary

pfam05044
Location:579 → 730

HPD; Homeo-prospero domain
NM_002763.5 → NP_002754.2 prospero homeobox protein 1

See identical proteins and their annotated locations for NP_002754.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL606537, BC024201

Consensus CDS

CCDS31021.1

UniProtKB/Swiss-Prot

Q92786

Related

ENSP00000400694.1, ENST00000435016.2

Conserved Domains (1) summary

pfam05044
Location:579 → 730

HPD; Homeo-prospero domain