PROP1

Functionⁱ

Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	69 – 128	HomeoboxPROSITE-ProRule annotationAdd BLAST		60

GO - Molecular functionⁱ

beta-catenin binding Source: Ensembl
chromatin binding Source: Ensembl
distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
protein C-terminus binding Source: Ensembl
RNA polymerase II distal enhancer sequence-specific DNA binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

blood vessel development Source: Ensembl
canonical Wnt signaling pathway Source: Ensembl
cell migration Source: Ensembl
central nervous system development
Source: ProtInc
Traceable author statementⁱ
- 9462743
dorsal/ventral pattern formation Source: Ensembl
hypophysis morphogenesis Source: Ensembl
hypothalamus cell differentiation Source: Ensembl
negative regulation of apoptotic process Source: Ensembl
somatotropin secreting cell differentiation Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding

Molecular function

DNA-binding

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Homeobox protein prophet of Pit-1 Short name: PROP-1 Alternative name(s): Pituitary-specific homeodomain factor
Gene namesⁱ	Name:PROP1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 5

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000175325.2
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:9455 PROP1
MIMⁱ	601538 gene
neXtProtⁱ	NX_O75360

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Pituitary hormone deficiency, combined, 2 (CPHD2)7 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionCombined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_003768	73	R → C in CPHD2; familial; no detectable DNA binding observed with the mutant protein in electromobility shift assays; whereas in vitro translated PROP1 and the mutant proteins were similar in their expression and electrophoretic properties. 3 PublicationsCorresponds to variant dbSNP:rs121917843EnsemblClinVar.	1
Natural variantⁱVAR_012746	73	R → H in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917842EnsemblClinVar.	1
Natural variantⁱVAR_063235	88	F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant dbSNP:rs121917841EnsemblClinVar.	1
Natural variantⁱVAR_063236	99	R → Q in CPHD2; displays a significant decrease in DNA binding on a paired-box response element (PRDQ9) and trans-activation of a luciferase reporter gene. 1 PublicationCorresponds to variant dbSNP:rs137853100EnsemblClinVar.	1
Natural variantⁱVAR_003769	117	F → I in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917840EnsemblClinVar.	1
Natural variantⁱVAR_003770	120	R → C in CPHD2; familial. 2 PublicationsCorresponds to variant dbSNP:rs121917839EnsemblClinVar.	1
Natural variantⁱVAR_054973	125	R → W in CPHD2. 1 PublicationCorresponds to variant dbSNP:rs146918863EnsemblClinVar.	1

Keywords - Diseaseⁱ

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET More...DisGeNETⁱ	5626
GeneReviewsⁱ	PROP1
MalaCards human disease database More...MalaCardsⁱ	PROP1
MIMⁱ	262600 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000175325
Orphanetⁱ	95494 Combined pituitary hormone deficiencies, genetic forms 226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 90695 Panhypopituitarism
PharmGKBⁱ	PA33808

Polymorphism and mutation databases

BioMutaⁱ	PROP1

BioMutaⁱ

PROP1

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000049271	1 – 226	Homeobox protein prophet of Pit-1Add BLAST		226

Proteomic databases

EPDⁱ	O75360
PaxDbⁱ	O75360
PeptideAtlas More...PeptideAtlasⁱ	O75360
PRIDEⁱ	O75360
ProteomicsDBⁱ	49924

PTM databases

iPTMnetⁱ	O75360
PhosphoSitePlusⁱ	O75360

Expressionⁱ

Tissue specificityⁱ

Expressed specifically in embryonic pituitary.

Gene expression databases

Bgeeⁱ	ENSG00000175325 Expressed in 3 organ(s), highest expression level in brain
CleanExⁱ	HS_PROP1
Genevisibleⁱ	O75360 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA049839

HPAⁱ

HPA049839

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
AES	Q08117	4	EBI-9027467,EBI-717810
HOXA1	P49639	4	EBI-9027467,EBI-740785
TEKT5	Q96M29	4	EBI-9027467,EBI-10239812

GO - Molecular functionⁱ

beta-catenin binding Source: Ensembl
protein C-terminus binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	111610, 2 interactors
IntActⁱ	O75360, 68 interactors
STRINGⁱ	9606.ENSP00000311290

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O75360
SMRⁱ	O75360
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the paired homeobox family.Curated

Keywords - Domainⁱ

Homeobox

Phylogenomic databases

eggNOGⁱ	KOG0490 Eukaryota ENOG410YIJ3 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00930000150828
HOGENOMⁱ	HOG000115706
HOVERGENⁱ	HBG053691
InParanoidⁱ	O75360
KEGG Orthology (KO) More...KOⁱ	K09327
OMAⁱ	TCFPHPY
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0R1U
PhylomeDBⁱ	O75360
TreeFamⁱ	TF315976

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR000047 HTH_motif
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00046 Homeobox, 1 hit
PRINTSⁱ	PR00031 HTHREPRESSR
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show all Align All

O75360-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MEAERRRQAE KPKKGRVGSN LLPERHPATG TPTTTVDSSA PPCRRLPGAG 
        60         70         80         90        100
GGRSRFSPQG GQRGRPHSRR RHRTTFSPVQ LEQLESAFGR NQYPDIWARE 
       110        120        130        140        150
SLARDTGLSE ARIQVWFQNR RAKQRKQERS LLQPLAHLSP AAFSSFLPES 
       160        170        180        190        200
TACPYSYAAP PPPVTCFPHP YSHALPSQPS TGGAFALSHQ SEDWYPTLHP 
       210        220 
APAGHLPCPP PPPMLPLSLE PSKSWN

Length:226

Mass (Da):24,984

Last modified:November 2, 2010 - v2

Checksum:ⁱCE6D59B3D295A86D

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A0G2JQ02	A0A0G2JQ02_HUMAN	Homeobox protein prophet of Pit-1 Homeobox protein prophet of Pit-1 (Prophet of Pit1, paired-like homeodomain transcription factor)	PROP1 hCG_40268	226	Annotation score:
A0A0G2JRP7	A0A0G2JRP7_HUMAN	Homeobox protein prophet of Pit-1 Homeobox protein prophet of Pit-1	PROP1	112	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_054972	20	N → S3 PublicationsCorresponds to variant dbSNP:rs7445271Ensembl.	1
Natural variantⁱVAR_003768	73	R → C in CPHD2; familial; no detectable DNA binding observed with the mutant protein in electromobility shift assays; whereas in vitro translated PROP1 and the mutant proteins were similar in their expression and electrophoretic properties. 3 PublicationsCorresponds to variant dbSNP:rs121917843EnsemblClinVar.	1
Natural variantⁱVAR_012746	73	R → H in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917842EnsemblClinVar.	1
Natural variantⁱVAR_063235	88	F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant dbSNP:rs121917841EnsemblClinVar.	1
Natural variantⁱVAR_063236	99	R → Q in CPHD2; displays a significant decrease in DNA binding on a paired-box response element (PRDQ9) and trans-activation of a luciferase reporter gene. 1 PublicationCorresponds to variant dbSNP:rs137853100EnsemblClinVar.	1
Natural variantⁱVAR_003769	117	F → I in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917840EnsemblClinVar.	1
Natural variantⁱVAR_003770	120	R → C in CPHD2; familial. 2 PublicationsCorresponds to variant dbSNP:rs121917839EnsemblClinVar.	1
Natural variantⁱVAR_054973	125	R → W in CPHD2. 1 PublicationCorresponds to variant dbSNP:rs146918863EnsemblClinVar.	1
Natural variantⁱVAR_014531	142	A → T. Corresponds to variant dbSNP:rs1800197EnsemblClinVar.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF076214 Genomic DNA Translation: AAC77453.1 AF076215 mRNA Translation: AAC77454.1 AF041141, AF041139, AF041140 Genomic DNA Translation: AAC27900.1 AC136940 Genomic DNA No translation available. BC069076 mRNA Translation: AAH69076.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS4430.1
NCBI Reference Sequences More...RefSeqⁱ	NP_006252.3, NM_006261.4
UniGeneⁱ	Hs.158301

Genome annotation databases

Ensemblⁱ	ENST00000308304; ENSP00000311290; ENSG00000175325
GeneIDⁱ	5626
KEGGⁱ	hsa:5626
UCSC genome browser More...UCSCⁱ	uc003mif.1 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O75360	Homeobox protein prophet of Pit-1 (Fragment)		HUMAN		112	UniRef100_O75360

Protein	Similar proteins		Species	Score	Length	Source
O75360	Homeobox protein prophet of Pit-1		GORGO		225	UniRef90_O75360
Homeobox protein prophet of Pit-1 (Fragment)		HUMAN		112
PROP paired-like homeobox 1		PANTR		226
Uncharacterized protein		COLAP		226
PROP paired-like homeobox 1		PONAB		226
+10

Protein	Similar proteins		Species	Score	Length	Source
O75360	Homeobox protein prophet of Pit-1		MOUSE		223	UniRef50_P97458
Homeobox protein prophet of Pit-1		ALOBE		226
Homeobox protein prophet of Pit-1		THEGE		226
Homeobox protein prophet of Pit-1		SAPAP		226
Homeobox protein prophet of Pit-1		BOVIN		226
+115

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF076214 Genomic DNA Translation: AAC77453.1 AF076215 mRNA Translation: AAC77454.1 AF041141, AF041139, AF041140 Genomic DNA Translation: AAC27900.1 AC136940 Genomic DNA No translation available. BC069076 mRNA Translation: AAH69076.1
CCDSⁱ	CCDS4430.1
RefSeqⁱ	NP_006252.3, NM_006261.4
UniGeneⁱ	Hs.158301

3D structure databases

ProteinModelPortalⁱ	O75360
SMRⁱ	O75360
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	111610, 2 interactors
IntActⁱ	O75360, 68 interactors
STRINGⁱ	9606.ENSP00000311290

PTM databases

iPTMnetⁱ	O75360
PhosphoSitePlusⁱ	O75360

Polymorphism and mutation databases

BioMutaⁱ	PROP1

BioMutaⁱ

PROP1

Proteomic databases

EPDⁱ	O75360
PaxDbⁱ	O75360
PeptideAtlasⁱ	O75360
PRIDEⁱ	O75360
ProteomicsDBⁱ	49924

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000308304; ENSP00000311290; ENSG00000175325
GeneIDⁱ	5626
KEGGⁱ	hsa:5626
UCSCⁱ	uc003mif.1 human

Organism-specific databases

CTDⁱ	5626
DisGeNETⁱ	5626
EuPathDBⁱ	HostDB:ENSG00000175325.2
GeneCardsⁱ	PROP1
GeneReviewsⁱ	PROP1
HGNCⁱ	HGNC:9455 PROP1
HPAⁱ	HPA049839
MalaCardsⁱ	PROP1
MIMⁱ	262600 phenotype 601538 gene
neXtProtⁱ	NX_O75360
OpenTargetsⁱ	ENSG00000175325
Orphanetⁱ	95494 Combined pituitary hormone deficiencies, genetic forms 226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 90695 Panhypopituitarism
PharmGKBⁱ	PA33808
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0490 Eukaryota ENOG410YIJ3 LUCA
GeneTreeⁱ	ENSGT00930000150828
HOGENOMⁱ	HOG000115706
HOVERGENⁱ	HBG053691
InParanoidⁱ	O75360
KOⁱ	K09327
OMAⁱ	TCFPHPY
OrthoDBⁱ	EOG091G0R1U
PhylomeDBⁱ	O75360
TreeFamⁱ	TF315976

Miscellaneous databases

GeneWikiⁱ	PROP1
GenomeRNAiⁱ	5626
Protein Ontology More...PROⁱ	PR:O75360
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000175325 Expressed in 3 organ(s), highest expression level in brain
CleanExⁱ	HS_PROP1
Genevisibleⁱ	O75360 HS

Family and domain databases

CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR000047 HTH_motif
Pfamⁱ	View protein in Pfam PF00046 Homeobox, 1 hit
PRINTSⁱ	PR00031 HTHREPRESSR
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PROP1_HUMAN
Accessionⁱ	O75360Primary (citable) accession number: O75360
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
	Last sequence update:	November 2, 2010
	Last modified:	November 7, 2018
	This is version 160 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM

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UniProtKB - O75360 (PROP1_HUMAN)

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Homeobox protein prophet of Pit-1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ