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Protein

Parafibromin

Gene

CDC73

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

Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors.10 Publications

<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

  • RNA polymerase II complex binding Source: UniProtKB

GO - Biological processi

<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

Biological processCell cycle, Transcription, Transcription regulation, Wnt signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-5632684 Hedgehog 'on' state
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q6P1J9

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q6P1J9

<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:
Parafibromin
Alternative name(s):
Cell division cycle protein 73 homolog
Hyperparathyroidism 2 protein
<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:CDC73
Synonyms:C1orf28, HRPT2
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000134371.9

Human Gene Nomenclature Database

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HGNCi
HGNC:16783 CDC73

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607393 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6P1J9

<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; 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

Hyperparathyroidism 1 (HRPT1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas.
See also OMIM:145000
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_06493163L → P in HRPT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1060500015Ensembl.1
Natural variantiVAR_02408264L → P in HRPT1; does not affect interaction with the Pfa1 complex. 3 PublicationsCorresponds to variant dbSNP:rs121434264EnsemblClinVar.1
Natural variantiVAR_06493395L → P in HRPT1; unknown pathological significance; found as somatic mutation in a parathyroid adenoma sample from a patient who also carries a germline frameshift mutation. 1 Publication1
Hyperparathyroidism 2 with jaw tumors (HRPT2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neoplasia syndrome characterized by primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer.
See also OMIM:145001
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0649285 – 10Missing in HRPT2; unknown pathological significance; found as somatic mutation in a parathyroid carcinoma sample from a patient who also carries a germline mutation causing a splicing defect. 1 Publication6
Natural variantiVAR_064936379D → N in HRPT2. 1 PublicationCorresponds to variant dbSNP:rs971586985Ensembl.1
Parathyroid carcinoma (PRTC)1 Publication
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionThese cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment.
See also OMIM:608266

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
79577

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

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GeneReviewsi
CDC73

MalaCards human disease database

More...
MalaCardsi
CDC73
MIMi145000 phenotype
145001 phenotype
608266 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000134371

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

More...
Orphaneti
99879 Familial isolated hyperparathyroidism
99880 Hyperparathyroidism-jaw tumor syndrome
143 Parathyroid carcinoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29464

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CDC73

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74749063

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<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_00001918032 – 531ParafibrominAdd BLAST530

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki198Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei212PhosphoserineCombined sources1
Cross-linki301Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki308Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki321Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated. Dephosphorylated by PTPN11.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q6P1J9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q6P1J9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q6P1J9

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

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PaxDbi
Q6P1J9

PeptideAtlas

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PeptideAtlasi
Q6P1J9

PRoteomics IDEntifications database

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PRIDEi
Q6P1J9

ProteomicsDB human proteome resource

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ProteomicsDBi
66834

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q6P1J9

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

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PhosphoSitePlusi
Q6P1J9

<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

Found in adrenal and parathyroid glands, kidney and heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000134371 Expressed in 206 organ(s), highest expression level in brain

CleanEx database of gene expression profiles

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CleanExi
HS_CDC73

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6P1J9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6P1J9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB016359
HPA030772

<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

Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61 (PubMed:19952111, PubMed:20178742). The PAF1 complex interacts with PHF5A. Within the PAF1 complex interacts directly with PHF5A (By similarity). Interacts with POLR2A, CPSF1, CPSF4, CSTF2, KMT2A/MLL1 and CTNNB1 (PubMed:15632063, PubMed:15923622, PubMed:16630820, PubMed:19136632, PubMed:20541477). Interacts with a Set1-like complex that has histone methyltransferase activity and methylates histone H3 (PubMed:15632063). Found in a complex with BCL9L or BCL9, CDC73, CTNNB1 and PYGO1 indicative for the participation in a nuclear Wnt signaling complex (PubMed:17113272). Interacts with PTPN11 (PubMed:26742426). Interacts with SETD5 (By similarity).By similarity9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122724, 265 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q6P1J9

Database of interacting proteins

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DIPi
DIP-37884N

Protein interaction database and analysis system

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IntActi
Q6P1J9, 232 interactors

Molecular INTeraction database

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MINTi
Q6P1J9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000356405

<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

1531
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5YDEX-ray1.02A1-111[»]
5YDFX-ray1.40A/B1-100[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q6P1J9

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

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SMRi
Q6P1J9

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni200 – 531Interaction with POLR2A and PAF1Add BLAST332
Regioni200 – 250Interaction with CTNNB11 PublicationAdd BLAST51

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi125 – 139Nuclear localization signalAdd BLAST15

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi361 – 364Poly-Ile4

<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 CDC73 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3786 Eukaryota
COG5157 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000001114

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG055033

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6P1J9

KEGG Orthology (KO)

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KOi
K15175

Identification of Orthologs from Complete Genome Data

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OMAi
KKLQGCQ

Database of Orthologous Groups

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OrthoDBi
720340at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6P1J9

TreeFam database of animal gene trees

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TreeFami
TF313016

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.11990, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007852 Cdc73/Parafibromin
IPR031336 CDC73_C
IPR038103 CDC73_C_sf
IPR032041 Cdc73_N

The PANTHER Classification System

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PANTHERi
PTHR12466 PTHR12466, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05179 CDC73_C, 1 hit
PF16050 CDC73_N, 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>.<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_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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q6P1J9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MADVLSVLRQ YNIQKKEIVV KGDEVIFGEF SWPKNVKTNY VVWGTGKEGQ
60 70 80 90 100
PREYYTLDSI LFLLNNVHLS HPVYVRRAAT ENIPVVRRPD RKDLLGYLNG
110 120 130 140 150
EASTSASIDR SAPLEIGLQR STQVKRAADE VLAEAKKPRI EDEECVRLDK
160 170 180 190 200
ERLAARLEGH KEGIVQTEQI RSLSEAMSVE KIAAIKAKIM AKKRSTIKTD
210 220 230 240 250
LDDDITALKQ RSFVDAEVDV TRDIVSRERV WRTRTTILQS TGKNFSKNIF
260 270 280 290 300
AILQSVKARE EGRAPEQRPA PNAAPVDPTL RTKQPIPAAY NRYDQERFKG
310 320 330 340 350
KEETEGFKID TMGTYHGMTL KSVTEGASAR KTQTPAAQPV PRPVSQARPP
360 370 380 390 400
PNQKKGSRTP IIIIPAATTS LITMLNAKDL LQDLKFVPSD EKKKQGCQRE
410 420 430 440 450
NETLIQRRKD QMQPGGTAIS VTVPYRVVDQ PLKLMPQDWD RVVAVFVQGP
460 470 480 490 500
AWQFKGWPWL LPDGSPVDIF AKIKAFHLKY DEVRLDPNVQ KWDVTVLELS
510 520 530
YHKRHLDRPV FLRFWETLDR YMVKHKSHLR F
Length:531
Mass (Da):60,577
Last modified:July 5, 2004 - 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:i894A7448DBC0E793
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GUB2A0A1B0GUB2_HUMAN
Parafibromin
CDC73
450Annotation 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>
A0A2R8Y640A0A2R8Y640_HUMAN
Parafibromin
CDC73
197Annotation 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>
A0A2R8YHB3A0A2R8YHB3_HUMAN
Parafibromin
CDC73
385Annotation 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>
A0A3B3IRP5A0A3B3IRP5_HUMAN
Parafibromin
CDC73
482Annotation 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>
A0A3B3ISN2A0A3B3ISN2_HUMAN
Parafibromin
CDC73
104Annotation 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 AAH07325 differs from that shown. Contaminating sequence. Potential poly-A sequence starting in position 300.Curated
The sequence BAB15608 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti123Q → G in AAH14351 (PubMed:15489334).Curated1
Sequence conflicti184 – 187AIKA → CNQT in BAB15608 (PubMed:14702039).Curated4
Sequence conflicti372I → K in BAB15608 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0649272A → S Found in parathyroid adenoma samples; somatic mutation; parathyroid adenoma samples are from a patient with isolated hyperparathyroidism who also carries germline mutation P-91. 1 Publication1
Natural variantiVAR_0649285 – 10Missing in HRPT2; unknown pathological significance; found as somatic mutation in a parathyroid carcinoma sample from a patient who also carries a germline mutation causing a splicing defect. 1 Publication6
Natural variantiVAR_06492934K → Q Found in a clear cell renal carcinoma sample; somatic mutation; unlike wild-type protein the mutant is defective in suppressing CCND1 expression in vivo. 1 Publication1
Natural variantiVAR_06493059S → F Found in a parathyroid carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_06493163L → P in HRPT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1060500015Ensembl.1
Natural variantiVAR_02408264L → P in HRPT1; does not affect interaction with the Pfa1 complex. 3 PublicationsCorresponds to variant dbSNP:rs121434264EnsemblClinVar.1
Natural variantiVAR_06493291R → P Found in a patient with isolated hyperparathyroidism and parathyroid adenomas. 1 Publication1
Natural variantiVAR_06493395L → P in HRPT1; unknown pathological significance; found as somatic mutation in a parathyroid adenoma sample from a patient who also carries a germline frameshift mutation. 1 Publication1
Natural variantiVAR_064934272N → S Found in a parathyroid adenoma sample. 1 PublicationCorresponds to variant dbSNP:rs752383339EnsemblClinVar.1
Natural variantiVAR_064935292R → K Found in a Wilms tumor sample; somatic mutation. 1 Publication1
Natural variantiVAR_064936379D → N in HRPT2. 1 PublicationCorresponds to variant dbSNP:rs971586985Ensembl.1
Natural variantiVAR_031825384L → P. Corresponds to variant dbSNP:rs35590728Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF312865 mRNA Translation: AAG45339.1
AK026969 mRNA Translation: BAB15608.1 Different initiation.
AK314772 mRNA Translation: BAG37309.1
AL139133 Genomic DNA No translation available.
AL390863 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW91250.1
BC007325 mRNA Translation: AAH07325.1 Sequence problems.
BC014351 mRNA Translation: AAH14351.2
BC065037 mRNA Translation: AAH65037.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1382.1

NCBI Reference Sequences

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RefSeqi
NP_078805.3, NM_024529.4

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.378996

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000367435; ENSP00000356405; ENSG00000134371
ENST00000650099; ENSP00000498073; ENSG00000134371

Database of genes from NCBI RefSeq genomes

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GeneIDi
79577

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79577

UCSC genome browser

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UCSCi
uc001gtb.4 human

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF312865 mRNA Translation: AAG45339.1
AK026969 mRNA Translation: BAB15608.1 Different initiation.
AK314772 mRNA Translation: BAG37309.1
AL139133 Genomic DNA No translation available.
AL390863 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW91250.1
BC007325 mRNA Translation: AAH07325.1 Sequence problems.
BC014351 mRNA Translation: AAH14351.2
BC065037 mRNA Translation: AAH65037.1
CCDSiCCDS1382.1
RefSeqiNP_078805.3, NM_024529.4
UniGeneiHs.378996

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5YDEX-ray1.02A1-111[»]
5YDFX-ray1.40A/B1-100[»]
ProteinModelPortaliQ6P1J9
SMRiQ6P1J9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122724, 265 interactors
CORUMiQ6P1J9
DIPiDIP-37884N
IntActiQ6P1J9, 232 interactors
MINTiQ6P1J9
STRINGi9606.ENSP00000356405

PTM databases

iPTMnetiQ6P1J9
PhosphoSitePlusiQ6P1J9

Polymorphism and mutation databases

BioMutaiCDC73
DMDMi74749063

Proteomic databases

EPDiQ6P1J9
jPOSTiQ6P1J9
MaxQBiQ6P1J9
PaxDbiQ6P1J9
PeptideAtlasiQ6P1J9
PRIDEiQ6P1J9
ProteomicsDBi66834

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
79577
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367435; ENSP00000356405; ENSG00000134371
ENST00000650099; ENSP00000498073; ENSG00000134371
GeneIDi79577
KEGGihsa:79577
UCSCiuc001gtb.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79577
DisGeNETi79577
EuPathDBiHostDB:ENSG00000134371.9

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CDC73
GeneReviewsiCDC73
HGNCiHGNC:16783 CDC73
HPAiCAB016359
HPA030772
MalaCardsiCDC73
MIMi145000 phenotype
145001 phenotype
607393 gene
608266 phenotype
neXtProtiNX_Q6P1J9
OpenTargetsiENSG00000134371
Orphaneti99879 Familial isolated hyperparathyroidism
99880 Hyperparathyroidism-jaw tumor syndrome
143 Parathyroid carcinoma
PharmGKBiPA29464

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3786 Eukaryota
COG5157 LUCA
GeneTreeiENSGT00390000001114
HOVERGENiHBG055033
InParanoidiQ6P1J9
KOiK15175
OMAiKKLQGCQ
OrthoDBi720340at2759
PhylomeDBiQ6P1J9
TreeFamiTF313016

Enzyme and pathway databases

ReactomeiR-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-5632684 Hedgehog 'on' state
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
SignaLinkiQ6P1J9
SIGNORiQ6P1J9

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CDC73 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CDC73

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

More...
GenomeRNAii
79577

Protein Ontology

More...
PROi
PR:Q6P1J9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000134371 Expressed in 206 organ(s), highest expression level in brain
CleanExiHS_CDC73
ExpressionAtlasiQ6P1J9 baseline and differential
GenevisibleiQ6P1J9 HS

Family and domain databases

Gene3Di3.40.50.11990, 1 hit
InterProiView protein in InterPro
IPR007852 Cdc73/Parafibromin
IPR031336 CDC73_C
IPR038103 CDC73_C_sf
IPR032041 Cdc73_N
PANTHERiPTHR12466 PTHR12466, 1 hit
PfamiView protein in Pfam
PF05179 CDC73_C, 1 hit
PF16050 CDC73_N, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiCDC73_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: Q6P1J9
Secondary accession number(s): A6NLZ8
, B2RBR2, Q6PK51, Q96A07, Q9H245, Q9H5L7
<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: December 20, 2005
Last sequence update: July 5, 2004
Last modified: January 16, 2019
This is version 160 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, Direct protein sequencing, Reference proteome

Documents

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