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UniProtKB - O75360 (PROP1_HUMAN)

Entry version 172 (12 Aug 2020)
Sequence version 2 (02 Nov 2010)
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Protein

Homeobox protein prophet of Pit-1

Gene

PROP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi69 – 128HomeoboxPROSITE-ProRule annotationAdd BLAST60

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75360

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Homeobox protein prophet of Pit-1
Short name:
PROP-1
Alternative name(s):
Pituitary-specific homeodomain factor
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PROP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000175325.2

Human Gene Nomenclature Database

More...HGNCi		HGNC:9455, PROP1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601538, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75360

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00376873R → 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_01274673R → H in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917842EnsemblClinVar.1
Natural variantiVAR_06323588F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant dbSNP:rs121917841EnsemblClinVar.1
Natural variantiVAR_06323699R → 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_003769117F → I in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917840EnsemblClinVar.1
Natural variantiVAR_003770120R → C in CPHD2; familial. 2 PublicationsCorresponds to variant dbSNP:rs121917839EnsemblClinVar.1
Natural variantiVAR_054973125R → W in CPHD2. 1 PublicationCorresponds to variant dbSNP:rs146918863EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		5626

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PROP1

MalaCards human disease database

More...MalaCardsi		PROP1
MIMi262600, phenotype

Open Targets

More...OpenTargetsi		ENSG00000175325

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		95494, Combined pituitary hormone deficiencies, genetic forms
226307, Hypothyroidism due to deficient transcription factors involved in pituitary development or function
90695, Panhypopituitarism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33808

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75360, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PROP1

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000492711 – 226Homeobox protein prophet of Pit-1Add BLAST226

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75360

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75360

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O75360

PRoteomics IDEntifications database

More...PRIDEi		O75360

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49924

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75360

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O75360

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed specifically in embryonic pituitary.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000175325, Expressed in brain and 5 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75360, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000175325, Tissue enriched (pituitary)

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
O75360
With#Exp.IntAct
ABHD11 - isoform 4 [Q8NFV4-4]3EBI-9027467,EBI-12318443
ARSA [P15289]3EBI-9027467,EBI-2117357
BATF2 [Q8N1L9]3EBI-9027467,EBI-742695
C11orf1 [Q9H5F2]5EBI-9027467,EBI-718615
C19orf54 - isoform 3 [Q5BKX5-3]3EBI-9027467,EBI-11976299
C1orf94 [Q6P1W5]3EBI-9027467,EBI-946029
C6orf15 [Q6UXA7]3EBI-9027467,EBI-11990870
COX6B2 [Q6YFQ2]3EBI-9027467,EBI-10291911
CRYBA1 [P05813]3EBI-9027467,EBI-7043337
CYSRT1 [A8MQ03]3EBI-9027467,EBI-3867333
DAZAP2 [Q15038]3EBI-9027467,EBI-724310
EFEMP2 [O95967]3EBI-9027467,EBI-743414
FAM166A [Q6J272]3EBI-9027467,EBI-12811067
FAM168A - isoform 2 [Q92567-2]3EBI-9027467,EBI-11978259
HDHD3 [Q9BSH5]3EBI-9027467,EBI-745201
HNRNPF [P52597]3EBI-9027467,EBI-352986
HOXA1 [P49639]3EBI-9027467,EBI-740785
INTS11 [Q5TA45]3EBI-9027467,EBI-748258
KRTAP19-1 [Q8IUB9]3EBI-9027467,EBI-12811111
KRTAP19-6 [Q3LI70]3EBI-9027467,EBI-12805508
KRTAP19-7 [Q3SYF9]3EBI-9027467,EBI-10241353
KRTAP8-1 [Q8IUC2]3EBI-9027467,EBI-10261141
MAGED1 [Q9Y5V3]3EBI-9027467,EBI-716006
METTL15 - isoform 4 [A6NJ78-4]3EBI-9027467,EBI-10174029
METTL27 [Q8N6F8]3EBI-9027467,EBI-8487781
NR1D2 [Q6NSM0]3EBI-9027467,EBI-10250949
OLIG3 [Q7RTU3]3EBI-9027467,EBI-10225049
OXER1 [Q8TDS5]3EBI-9027467,EBI-12813389
P4HA3 [Q7Z4N8]3EBI-9027467,EBI-10181968
PLEKHB2 [Q96CS7]3EBI-9027467,EBI-373552
POU6F2 [P78424]3EBI-9027467,EBI-12029004
PSMB11 [A5LHX3]5EBI-9027467,EBI-19951687
PSMB4 [P28070]3EBI-9027467,EBI-603350
RNF4 [P78317]3EBI-9027467,EBI-2340927
SMRP1 [Q8NCR6]3EBI-9027467,EBI-10269322
SMUG1 - isoform 2 [Q53HV7-2]3EBI-9027467,EBI-12275818
SUMO1 [P63165]3EBI-9027467,EBI-80140
TBX22 [Q9Y458]3EBI-9027467,EBI-6427217
TEKT4 [Q8WW24]3EBI-9027467,EBI-750487
TEKT5 [Q96M29]3EBI-9027467,EBI-10239812
TENT5B [Q96A09]3EBI-9027467,EBI-752030
TINAGL1 [Q9GZM7]3EBI-9027467,EBI-715869
TLE5 [Q08117]4EBI-9027467,EBI-717810
TLE5 - isoform 2 [Q08117-2]3EBI-9027467,EBI-11741437
TMEM42 [Q69YG0]3EBI-9027467,EBI-12038591
TRIM42 [Q8IWZ5]3EBI-9027467,EBI-5235829
UBE2I [Q7KZS0]5EBI-9027467,EBI-10180829
UFSP1 [Q6NVU6]3EBI-9027467,EBI-12068150
ZNF503 [Q96F45]3EBI-9027467,EBI-8832437

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111610, 2 interactors

Protein interaction database and analysis system

More...IntActi		O75360, 57 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000311290

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75360, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O75360

Database of comparative protein structure models

More...ModBasei		Search...

<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

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0490, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162292

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_044912_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75360

KEGG Orthology (KO)

More...KOi		K09327

Identification of Orthologs from Complete Genome Data

More...OMAi		CFPHPYN

Database of Orthologous Groups

More...OrthoDBi		1351285at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75360

TreeFam database of animal gene trees

More...TreeFami		TF315976

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR000047, HTH_motif
IPR042412, PROP1

The PANTHER Classification System

More...PANTHERi		PTHR47409, PTHR47409, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00031, HTHREPRESSR

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

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

O75360-1 [UniParc]FASTAAdd 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCE6D59B3D295A86D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0G2JQ02A0A0G2JQ02_HUMAN
Homeobox protein prophet of Pit-1
PROP1 hCG_40268
226Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JRP7A0A0G2JRP7_HUMAN
Homeobox protein prophet of Pit-1
PROP1
112Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05497220N → S3 PublicationsCorresponds to variant dbSNP:rs7445271Ensembl.1
Natural variantiVAR_00376873R → 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_01274673R → H in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917842EnsemblClinVar.1
Natural variantiVAR_06323588F → S in CPHD2; impairs binding of the mutated protein to DNA target sequences. 1 PublicationCorresponds to variant dbSNP:rs121917841EnsemblClinVar.1
Natural variantiVAR_06323699R → 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_003769117F → I in CPHD2; familial. 1 PublicationCorresponds to variant dbSNP:rs121917840EnsemblClinVar.1
Natural variantiVAR_003770120R → C in CPHD2; familial. 2 PublicationsCorresponds to variant dbSNP:rs121917839EnsemblClinVar.1
Natural variantiVAR_054973125R → W in CPHD2. 1 PublicationCorresponds to variant dbSNP:rs146918863EnsemblClinVar.1
Natural variantiVAR_014531142A → T. Corresponds to variant dbSNP:rs1800197EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000308304; ENSP00000311290; ENSG00000175325

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5626

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5626

UCSC genome browser

More...UCSCi		uc003mif.1, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

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
CCDSiCCDS4430.1
RefSeqiNP_006252.3, NM_006261.4

3D structure databases

SMRiO75360
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111610, 2 interactors
IntActiO75360, 57 interactors
STRINGi9606.ENSP00000311290

PTM databases

iPTMnetiO75360
PhosphoSitePlusiO75360

Polymorphism and mutation databases

BioMutaiPROP1

Proteomic databases

EPDiO75360
MassIVEiO75360
PaxDbiO75360
PRIDEiO75360
ProteomicsDBi49924

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29400, 96 antibodies

Genome annotation databases

EnsembliENST00000308304; ENSP00000311290; ENSG00000175325
GeneIDi5626
KEGGihsa:5626
UCSCiuc003mif.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5626
DisGeNETi5626
EuPathDBiHostDB:ENSG00000175325.2

GeneCards: human genes, protein and diseases

More...GeneCardsi		PROP1
GeneReviewsiPROP1
HGNCiHGNC:9455, PROP1
HPAiENSG00000175325, Tissue enriched (pituitary)
MalaCardsiPROP1
MIMi262600, phenotype
601538, gene
neXtProtiNX_O75360
OpenTargetsiENSG00000175325
Orphaneti95494, Combined pituitary hormone deficiencies, genetic forms
226307, Hypothyroidism due to deficient transcription factors involved in pituitary development or function
90695, Panhypopituitarism
PharmGKBiPA33808

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0490, Eukaryota
GeneTreeiENSGT00940000162292
HOGENOMiCLU_044912_1_0_1
InParanoidiO75360
KOiK09327
OMAiCFPHPYN
OrthoDBi1351285at2759
PhylomeDBiO75360
TreeFamiTF315976

Enzyme and pathway databases

PathwayCommonsiO75360

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5626, 1 hit in 890 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PROP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5626
PharosiO75360, Tbio

Protein Ontology

More...PROi		PR:O75360
RNActiO75360, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000175325, Expressed in brain and 5 other tissues
GenevisibleiO75360, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR000047, HTH_motif
IPR042412, PROP1
PANTHERiPTHR47409, PTHR47409, 1 hit
PfamiView protein in Pfam
PF00046, Homeodomain, 1 hit
PRINTSiPR00031, HTHREPRESSR
SMARTiView protein in SMART
SM00389, HOX, 1 hit
SUPFAMiSSF46689, SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPROP1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75360
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 2, 2010
Last modified: August 12, 2020
This is version 172 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<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

Reference proteome

Documents

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