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UniProtKB - P28069 (PIT1_HUMAN)

Entry version 200 (13 Nov 2019)
Sequence version 1 (01 Aug 1992)
Previous versions | rss
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Protein

Pituitary-specific positive transcription factor 1

Gene

POU1F1

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

Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202).2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi214 – 273HomeoboxPROSITE-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 functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		P28069

<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_and_taxonomy_section">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:
Pituitary-specific positive transcription factor 1
Short name:
PIT-1
Alternative name(s):
Growth hormone factor 1
Short name:
GHF-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:POU1F1
Synonyms:GHF1, PIT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9210 POU1F1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		173110 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P28069

<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, 1 (CPHD1)12 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. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe mental retardation along with short stature.
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_00377724P → L in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893757EnsemblClinVar.1
Natural variantiVAR_07553076P → L in CPHD1; reduces transactivation capacity on the GH1 gene; increases the functional binding on the GH1 promoter; increases the interaction with ELK1, LHX3 and PITX1. 1 Publication1
Natural variantiVAR_010574135F → C in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893761EnsemblClinVar.1
Natural variantiVAR_003778143R → Q in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893759EnsemblClinVar.1
Natural variantiVAR_003779158A → P in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893756EnsemblClinVar.1
Natural variantiVAR_063425172R → Q in CPHD1; associated with severe impairment of transactivation; has a greatly reduced DNA-binding affinity as the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs104893765EnsemblClinVar.1
Natural variantiVAR_010575174E → G in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs1207179169Ensembl.1
Natural variantiVAR_063426179S → R in CPHD1; transactivation capacity of this mutant is markedly decreased on the GH1; PRL, TSHB and POU1F1 genes; abolishes the functional interaction of POU1F1 on the PRL promoter with the coactivator CREBBP but not with the transcription factor LHX3; displays normal nuclear accumulation but a markedly decreased binding to a DNA response element. 1 PublicationCorresponds to variant dbSNP:rs104893766EnsemblClinVar.1
Natural variantiVAR_015260193W → R in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893758EnsemblClinVar.1
Natural variantiVAR_063427230E → K in CPHD1; associated with less severe impairment of transactivation; has a similar DNA-binding affinity as the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs104893764EnsemblClinVar.1
Natural variantiVAR_010576239P → S in CPHD1; loss of function. 1 PublicationCorresponds to variant dbSNP:rs104893762EnsemblClinVar.1
Natural variantiVAR_075531265R → W in CPHD1; found in a compound heterozygote also carrying an intragenic frameshift deletion; reduces transactivation capacity on the PRL gene; increases instability of the protein. 1 PublicationCorresponds to variant dbSNP:rs780359925Ensembl.1
Natural variantiVAR_003781271R → W in CPHD1. 4 PublicationsCorresponds to variant dbSNP:rs104893755EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi74L → A: No effect on the interaction with ELK1, LHX3 and PITX1. 1 Publication1
Mutagenesisi75T → A: Increases the interaction with LHX3. No effect on the interaction with ELK1. 1 Publication1
Mutagenesisi76P → A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. 1 Publication1
Mutagenesisi77C → A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. 1 Publication1
Mutagenesisi78L → A: Increases the interaction with LHX3 and PITX1. No effect on the interaction with ELK1. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		5449

MalaCards human disease database

More...MalaCardsi		POU1F1
MIMi613038 phenotype

Open Targets

More...OpenTargetsi		ENSG00000064835

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
231679 Isolated growth hormone deficiency type II

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33534

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P28069

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		POU1F1

Domain mapping of disease mutations (DMDM)

More...DMDMi		123408

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001006971 – 291Pituitary-specific positive transcription factor 1Add BLAST291

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P28069

PeptideAtlas

More...PeptideAtlasi		P28069

PRoteomics IDEntifications database

More...PRIDEi		P28069

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54444 [P28069-1]
54445 [P28069-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P28069

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

More...PhosphoSitePlusi		P28069

<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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000064835 Expressed in 38 organ(s), highest expression level in pituitary gland

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P28069 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P28069 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA041646
HPA050624

<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_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PITX1 (PubMed:26612202).

Interacts with LHX3 (PubMed:26612202).

Interacts with ELK1 (PubMed:26612202).

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111445, 15 interactors

Protein interaction database and analysis system

More...IntActi		P28069, 13 interactors

Molecular INTeraction database

More...MINTi		P28069

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000342931

<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

Secondary structure

1291
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P28069

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini124 – 198POU-specificPROSITE-ProRule annotationAdd BLAST75

<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 POU transcription factor family. Class-1 subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158913

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000116302

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P28069

KEGG Orthology (KO)

More...KOi		K09363

Identification of Orthologs from Complete Genome Data

More...OMAi		FPEHALS

Database of Orthologous Groups

More...OrthoDBi		797288at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P28069

TreeFam database of animal gene trees

More...TreeFami		TF316413

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086 homeodomain, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.260.40, 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
IPR010982 Lambda_DNA-bd_dom_sf
IPR015586 Pit_1
IPR013847 POU
IPR000327 POU_dom

The PANTHER Classification System

More...PANTHERi		PTHR11636:SF84 PTHR11636:SF84, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046 Homeodomain, 1 hit
PF00157 Pou, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00028 POUDOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389 HOX, 1 hit
SM00352 POU, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 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
PS00035 POU_1, 1 hit
PS00465 POU_2, 1 hit
PS51179 POU_3, 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_length">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>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform B (identifier: P28069-1) [UniParc]FASTAAdd to basket
Also known as: Pit-1B, GHF-1

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSCQAFTSAD TFIPLNSDAS ATLPLIMHHS AAECLPVSNH ATNVMSTATG 
        60         70         80         90        100
LHYSVPSCHY GNQPSTYGVM AGSLTPCLYK FPDHTLSHGF PPIHQPLLAE 
       110        120        130        140        150
DPTAADFKQE LRRKSKLVEE PIDMDSPEIR ELEKFANEFK VRRIKLGYTQ 
       160        170        180        190        200
TNVGEALAAV HGSEFSQTTI CRFENLQLSF KNACKLKAIL SKWLEEAEQV 
       210        220        230        240        250
GALYNEKVGA NERKRKRRTT ISIAAKDALE RHFGEQNKPS SQEIMRMAEE 
       260        270        280        290 
LNLEKEVVRV WFCNRRQREK RVKTSLNQSL FSISKEHLEC R
Length:291
Mass (Da):32,912
Last modified:August 1, 1992 - v1
<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:i0866777E3E425873
GO
Isoform A (identifier: P28069-2) [UniParc]FASTAAdd to basket
Also known as: Pit-1A, GHF-2

The sequence of this isoform differs from the canonical sequence as follows:
     47-47: T → TVPSILSLIQTPKCLCTHFSVTTLGNT

Note: Altered in its ability to trans-activate compared to isoform B.
Show »
Length:317
Mass (Da):35,669
Checksum:i3982D139208D46FD
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
H0YNM5H0YNM5_HUMAN
POU domain protein
POU1F1
216Annotation 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>
H0YK06H0YK06_HUMAN
Pituitary-specific positive transcr...
POU1F1
169Annotation score:

Annotation score:1 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAA54440 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0037764Q → R1 PublicationCorresponds to variant dbSNP:rs1051612Ensembl.1
Natural variantiVAR_04936119A → V. Corresponds to variant dbSNP:rs35182189Ensembl.1
Natural variantiVAR_00377724P → L in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893757EnsemblClinVar.1
Natural variantiVAR_07553076P → L in CPHD1; reduces transactivation capacity on the GH1 gene; increases the functional binding on the GH1 promoter; increases the interaction with ELK1, LHX3 and PITX1. 1 Publication1
Natural variantiVAR_010574135F → C in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893761EnsemblClinVar.1
Natural variantiVAR_003778143R → Q in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893759EnsemblClinVar.1
Natural variantiVAR_003779158A → P in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893756EnsemblClinVar.1
Natural variantiVAR_063425172R → Q in CPHD1; associated with severe impairment of transactivation; has a greatly reduced DNA-binding affinity as the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs104893765EnsemblClinVar.1
Natural variantiVAR_010575174E → G in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs1207179169Ensembl.1
Natural variantiVAR_063426179S → R in CPHD1; transactivation capacity of this mutant is markedly decreased on the GH1; PRL, TSHB and POU1F1 genes; abolishes the functional interaction of POU1F1 on the PRL promoter with the coactivator CREBBP but not with the transcription factor LHX3; displays normal nuclear accumulation but a markedly decreased binding to a DNA response element. 1 PublicationCorresponds to variant dbSNP:rs104893766EnsemblClinVar.1
Natural variantiVAR_015260193W → R in CPHD1. 1 PublicationCorresponds to variant dbSNP:rs104893758EnsemblClinVar.1
Natural variantiVAR_003780227D → Y1 PublicationCorresponds to variant dbSNP:rs1131815Ensembl.1
Natural variantiVAR_063427230E → K in CPHD1; associated with less severe impairment of transactivation; has a similar DNA-binding affinity as the wild-type protein. 1 PublicationCorresponds to variant dbSNP:rs104893764EnsemblClinVar.1
Natural variantiVAR_010576239P → S in CPHD1; loss of function. 1 PublicationCorresponds to variant dbSNP:rs104893762EnsemblClinVar.1
Natural variantiVAR_075531265R → W in CPHD1; found in a compound heterozygote also carrying an intragenic frameshift deletion; reduces transactivation capacity on the PRL gene; increases instability of the protein. 1 PublicationCorresponds to variant dbSNP:rs780359925Ensembl.1
Natural variantiVAR_003781271R → W in CPHD1. 4 PublicationsCorresponds to variant dbSNP:rs104893755EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00231447T → TVPSILSLIQTPKCLCTHFS VTTLGNT in isoform A. Curated1

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
L18781 mRNA Translation: AAA60093.1
X62429 mRNA Translation: CAA44295.1
D10216 mRNA Translation: BAA01068.1
X72215 mRNA Translation: CAA51017.1
D12892 Genomic DNA Translation: BAA02291.1
X77223, X77224 Genomic DNA Translation: CAA54440.2 Sequence problems.
X77223, X77224 Genomic DNA Translation: CAA54441.1
D11333 Genomic DNA Translation: BAA34536.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2919.1 [P28069-1]
CCDS46873.1 [P28069-2]

Protein sequence database of the Protein Information Resource

More...PIRi		S18718

NCBI Reference Sequences

More...RefSeqi		NP_000297.1, NM_000306.3 [P28069-1]
NP_001116229.1, NM_001122757.2 [P28069-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000344265; ENSP00000342931; ENSG00000064835 [P28069-2]
ENST00000350375; ENSP00000263781; ENSG00000064835 [P28069-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5449

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5449

UCSC genome browser

More...UCSCi		uc003dqq.2 human [P28069-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
L18781 mRNA Translation: AAA60093.1
X62429 mRNA Translation: CAA44295.1
D10216 mRNA Translation: BAA01068.1
X72215 mRNA Translation: CAA51017.1
D12892 Genomic DNA Translation: BAA02291.1
X77223, X77224 Genomic DNA Translation: CAA54440.2 Sequence problems.
X77223, X77224 Genomic DNA Translation: CAA54441.1
D11333 Genomic DNA Translation: BAA34536.1
CCDSiCCDS2919.1 [P28069-1]
CCDS46873.1 [P28069-2]
PIRiS18718
RefSeqiNP_000297.1, NM_000306.3 [P28069-1]
NP_001116229.1, NM_001122757.2 [P28069-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5WC9X-ray3.15A/B/E/F124-273[»]
SMRiP28069
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi111445, 15 interactors
IntActiP28069, 13 interactors
MINTiP28069
STRINGi9606.ENSP00000342931

PTM databases

iPTMnetiP28069
PhosphoSitePlusiP28069

Polymorphism and mutation databases

BioMutaiPOU1F1
DMDMi123408

Proteomic databases

MassIVEiP28069
PeptideAtlasiP28069
PRIDEiP28069
ProteomicsDBi54444 [P28069-1]
54445 [P28069-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		5449

Genome annotation databases

EnsembliENST00000344265; ENSP00000342931; ENSG00000064835 [P28069-2]
ENST00000350375; ENSP00000263781; ENSG00000064835 [P28069-1]
GeneIDi5449
KEGGihsa:5449
UCSCiuc003dqq.2 human [P28069-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5449
DisGeNETi5449

GeneCards: human genes, protein and diseases

More...GeneCardsi		POU1F1
HGNCiHGNC:9210 POU1F1
HPAiHPA041646
HPA050624
MalaCardsiPOU1F1
MIMi173110 gene
613038 phenotype
neXtProtiNX_P28069
OpenTargetsiENSG00000064835
Orphaneti95494 Combined pituitary hormone deficiencies, genetic forms
226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
231679 Isolated growth hormone deficiency type II
PharmGKBiPA33534

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

GeneTreeiENSGT00940000158913
HOGENOMiHOG000116302
InParanoidiP28069
KOiK09363
OMAiFPEHALS
OrthoDBi797288at2759
PhylomeDBiP28069
TreeFamiTF316413

Enzyme and pathway databases

SIGNORiP28069

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Pituitary-specific_positive_transcription_factor_1

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

More...GenomeRNAii		5449
PharosiP28069

Protein Ontology

More...PROi		PR:P28069

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000064835 Expressed in 38 organ(s), highest expression level in pituitary gland
ExpressionAtlasiP28069 baseline and differential
GenevisibleiP28069 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
Gene3Di1.10.260.40, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
IPR015586 Pit_1
IPR013847 POU
IPR000327 POU_dom
PANTHERiPTHR11636:SF84 PTHR11636:SF84, 1 hit
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PF00157 Pou, 1 hit
PRINTSiPR00028 POUDOMAIN
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00352 POU, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS00035 POU_1, 1 hit
PS00465 POU_2, 1 hit
PS51179 POU_3, 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 nameiPIT1_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: P28069
Secondary accession number(s): O75757
, Q15132, Q15133, Q9UD34, Q9UEL3
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: August 1, 1992
Last modified: November 13, 2019
This is version 200 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

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