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
109.20211119	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?

Long non-coding RNA DANCR modulates osteogenic differentiation by regulating the miR-1301-3p/PROX1 axis.
Title: Long non-coding RNA DANCR modulates osteogenic differentiation by regulating the miR-1301-3p/PROX1 axis.
Long noncoding RNA PROX1-AS1 promotes tumor progression and aggressiveness by sponging miR-647 in gastric cancer.
Title: Long noncoding RNA PROX1-AS1 promotes tumor progression and aggressiveness by sponging miR-647 in gastric cancer.
Two rare PROX1 variants in patients with lymphedema.
Title: Two rare PROX1 variants in patients with lymphedema.
lncRNAMIAT facilitates the differentiation of adiposederived mesenchymal stem cells into lymphatic endothelial cells via the miR495/Prox1 axis.
Title: lncRNA‑MIAT facilitates the differentiation of adipose‑derived mesenchymal stem cells into lymphatic endothelial cells via the miR‑495/Prox1 axis.
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.

Submit: New GeneRIF Correction See all GeneRIFs (120)

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: 390 organisms have orthologs with human gene PROX1
Orthologs

Gene Ontology Provided by GOA

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

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

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