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Protein

PR domain zinc finger protein 16

Gene

PRDM16

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

Binds DNA and functions as a transcriptional regulator. Functions in the differentiation of brown adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control of systemic metabolism. Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells. Functions also as a repressor of TGF-beta signaling. Isoform 4 may regulate granulocytes differentiation.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri230 – 253C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST24
Zinc fingeri281 – 303C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri309 – 331C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri337 – 360C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri366 – 388C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri394 – 416C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri423 – 445C2H2-type 7; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri951 – 973C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri979 – 1002C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1008 – 1032C2H2-type 10PROSITE-ProRule annotationAdd BLAST25

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

GO - Biological processi

<p>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, Repressor
Biological processDifferentiation, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-3214841 PKMTs methylate histone lysines

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9HAZ2

<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:
PR domain zinc finger protein 16Curated
Alternative name(s):
PR domain-containing protein 16Curated
Transcription factor MEL1Curated
Short name:
MDS1/EVI1-like gene 11 Publication
<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:PRDM16Imported
Synonyms:KIAA1675Imported, MEL11 Publication, PFM13
<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

More...
EuPathDBi
HostDB:ENSG00000142611.16

Human Gene Nomenclature Database

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HGNCi
HGNC:14000 PRDM16

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605557 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HAZ2

<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

Left ventricular non-compaction 8 (LVNC8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition.
See also OMIM:615373
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_070214816N → S in LVNC8. 1 PublicationCorresponds to variant dbSNP:rs397514743EnsemblClinVar.1
Cardiomyopathy, dilated 1LL (CMD1LL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:615373
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070212271E → K in CMD1LL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200052869EnsemblClinVar.1
Natural variantiVAR_070213291P → L in CMD1LL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397514744EnsemblClinVar.1
Natural variantiVAR_070215887L → P in CMD1LL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202115331EnsemblClinVar.1
A chromosomal aberration involving PRDM16 is found in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Reciprocal translocation t(1;3)(p36;q21). Isoform 4 is specifically expressed in adult T-cell leukemia.2 Publications

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
63976

MalaCards human disease database

More...
MalaCardsi
PRDM16
MIMi615373 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000142611

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

More...
Orphaneti
1606 1p36 deletion syndrome
154 Familial isolated dilated cardiomyopathy
54260 Left ventricular noncompaction

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33714

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PRDM16

Domain mapping of disease mutations (DMDM)

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DMDMi
259016328

<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_00000477731 – 1276PR domain zinc finger protein 16Add BLAST1276

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9HAZ2

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

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PaxDbi
Q9HAZ2

PeptideAtlas

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PeptideAtlasi
Q9HAZ2

PRoteomics IDEntifications database

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PRIDEi
Q9HAZ2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
81460
81461 [Q9HAZ2-2]
81462 [Q9HAZ2-3]
81463 [Q9HAZ2-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HAZ2

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

More...
PhosphoSitePlusi
Q9HAZ2

<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 in uterus and kidney. Expressed in both cardiomyocytes and interstitial cells.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000142611 Expressed in 153 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

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CleanExi
HS_PRDM16

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9HAZ2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HAZ2 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA050343
HPA060467

<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 CEBPA, CEBPB and CEBPD; the interaction is direct. Interacts with PPARG and PPARA; controls brown adipocytes differentiation. Interacts with CTBP1 and CTBP2; represses the expression of WAT-specific genes. Interacts with PPARGC1A and PPARGC1B; interaction with PPARGC1A or PPARGC1B activates the transcription of BAT-specific gene (By similarity). Interacts with HDAC1, SKI, SMAD2 and SMAD3; the interaction with SKI promotes the recruitment of SMAD3-HDAC1 complex on the promoter of TGF-beta target genes (PubMed:19049980). Interacts with ZNF516; the interaction is direct and may play a role in the transcription of brown adipose tissue-specific gene (PubMed:25578880).By similarity2 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

WithEntry#Exp.IntActNotes
Ctbp2P565462EBI-4566658,EBI-1384883From Mus musculus.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122023, 7 interactors

Protein interaction database and analysis system

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IntActi
Q9HAZ2, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000270722

<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

11276
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9HAZ2

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

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SMRi
Q9HAZ2

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

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>Domaini82 – 211SETPROSITE-ProRule annotationAdd BLAST130

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>Regioni679 – 1038Interaction with CTBP1, CTBP2 and ZNF516By similarityAdd BLAST360
Regioni739 – 1276Mediates interaction with SKI and regulation of TGF-beta signaling1 PublicationAdd BLAST538

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 biasi459 – 557Pro-richAdd BLAST99

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri230 – 253C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST24
Zinc fingeri281 – 303C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri309 – 331C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri337 – 360C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri366 – 388C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri394 – 416C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri423 – 445C2H2-type 7; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri951 – 973C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri979 – 1002C2H2-type 9PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1008 – 1032C2H2-type 10PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160951

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005619

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HAZ2

KEGG Orthology (KO)

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KOi
K22410

Identification of Orthologs from Complete Genome Data

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OMAi
GMQEKKM

Database of Orthologous Groups

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OrthoDBi
EOG091G0BYE

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9HAZ2

TreeFam database of animal gene trees

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TreeFami
TF315309

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030414 PRDM16
IPR001214 SET_dom
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

The PANTHER Classification System

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PANTHERi
PTHR24393:SF5 PTHR24393:SF5, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00096 zf-C2H2, 9 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00317 SET, 1 hit
SM00355 ZnF_C2H2, 10 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57667 SSF57667, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50280 SET, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 8 hits
PS50157 ZINC_FINGER_C2H2_2, 10 hits

<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>Sequences (4+)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 4 <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 promoter usage and alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HAZ2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MRSKARARKL AKSDGDVVNN MYEPNRDLLA SHSAEDEAED SAMSPIPVGP
60 70 80 90 100
PSPFPTSEDF TPKEGSPYEA PVYIPEDIPI PADFELRESS IPGAGLGVWA
110 120 130 140 150
KRKMEAGERL GPCVVVPRAA AKETDFGWEQ ILTDVEVSPQ EGCITKISED
160 170 180 190 200
LGSEKFCVDA NQAGAGSWLK YIRVACSCDD QNLTMCQISE QIYYKVIKDI
210 220 230 240 250
EPGEELLVHV KEGVYPLGTV PPGLDEEPTF RCDECDELFQ SKLDLRRHKK
260 270 280 290 300
YTCGSVGAAL YEGLAEELKP EGLGGGSGQA HECKDCERMF PNKYSLEQHM
310 320 330 340 350
VIHTEEREYK CDQCPKAFNW KSNLIRHQMS HDSGKRFECE NCVKVFTDPS
360 370 380 390 400
NLQRHIRSQH VGARAHACPD CGKTFATSSG LKQHKHIHST VKPFICEVCH
410 420 430 440 450
KSYTQFSNLC RHKRMHADCR TQIKCKDCGQ MFSTTSSLNK HRRFCEGKNH
460 470 480 490 500
YTPGGIFAPG LPLTPSPMMD KAKPSPSLNH ASLGFNEYFP SRPHPGSLPF
510 520 530 540 550
STAPPTFPAL TPGFPGIFPP SLYPRPPLLP PTSLLKSPLN HTQDAKLPSP
560 570 580 590 600
LGNPALPLVS AVSNSSQGTT AAAGPEEKFE SRLEDSCVEK LKTRSSDMSD
610 620 630 640 650
GSDFEDVNTT TGTDLDTTTG TGSDLDSDVD SDPDKDKGKG KSAEGQPKFG
660 670 680 690 700
GGLAPPGAPN SVAEVPVFYS QHSFFPPPDE QLLTATGAAG DSIKAIASIA
710 720 730 740 750
EKYFGPGFMG MQEKKLGSLP YHSAFPFQFL PNFPHSLYPF TDRALAHNLL
760 770 780 790 800
VKAEPKSPRD ALKVGGPSAE CPFDLTTKPK DVKPILPMPK GPSAPASGEE
810 820 830 840 850
QPLDLSIGSR ARASQNGGGR EPRKNHVYGE RKLGAGEGLP QVCPARMPQQ
860 870 880 890 900
PPLHYAKPSP FFMDPIYSRV EKRKVTDPVG ALKEKYLRPS PLLFHPQMSA
910 920 930 940 950
IETMTEKLES FAAMKADSGS SLQPLPHHPF NFRSPPPTLS DPILRKGKER
960 970 980 990 1000
YTCRYCGKIF PRSANLTRHL RTHTGEQPYR CKYCDRSFSI SSNLQRHVRN
1010 1020 1030 1040 1050
IHNKEKPFKC HLCNRCFGQQ TNLDRHLKKH EHENAPVSQH PGVLTNHLGT
1060 1070 1080 1090 1100
SASSPTSESD NHALLDEKED SYFSEIRNFI ANSEMNQAST RTEKRADMQI
1110 1120 1130 1140 1150
VDGSAQCPGL ASEKQEDVEE EDDDDLEEDD EDSLAGKSQD DTVSPAPEPQ
1160 1170 1180 1190 1200
AAYEDEEDEE PAASLAVGFD HTRRCAEDHE GGLLALEPMP TFGKGLDLRR
1210 1220 1230 1240 1250
AAEEAFEVKD VLNSTLDSEA LKHTLCRQAK NQAYAMMLSL SEDTPLHTPS
1260 1270
QGSLDAWLKV TGATSESGAF HPINHL
Length:1,276
Mass (Da):140,251
Last modified:September 22, 2009 - v3
<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:iAD16C5C0EE89A528
GO
Isoform 2 (identifier: Q9HAZ2-2) [UniParc]FASTAAdd to basket
Also known as: MEL1L

The sequence of this isoform differs from the canonical sequence as follows:
     1233-1251: Missing.

Note: No experimental confirmation available.
Show »
Length:1,257
Mass (Da):138,177
Checksum:i1CB045F5BBFE9D20
GO
Isoform 3 (identifier: Q9HAZ2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     191-191: Q → QV
     868-868: Missing.

Note: No experimental confirmation available.
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Length:1,276
Mass (Da):140,263
Checksum:iA5A073C5C5F26306
GO
Isoform 4 (identifier: Q9HAZ2-4) [UniParc]FASTAAdd to basket
Also known as: MEL1S

The sequence of this isoform differs from the canonical sequence as follows:
     1-184: Missing.

Note: Produced by alternative promoter usage.
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Length:1,092
Mass (Da):120,338
Checksum:i7A24088D0A73B54F
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RDW0D6RDW0_HUMAN
PR domain zinc finger protein 16
PRDM16
1,178Annotation 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>
D6RFY3D6RFY3_HUMAN
PR domain zinc finger protein 16
PRDM16
1,177Annotation 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>
H0YA13H0YA13_HUMAN
PR domain zinc finger protein 16
PRDM16
1,084Annotation 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>
U3KQL6U3KQL6_HUMAN
PR domain zinc finger protein 16
PRDM16
53Annotation 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 BAB21766 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti50 – 52PPS → SPP in AAG33382 (Ref. 2) Curated3
Sequence conflicti324L → F in AAG33382 (Ref. 2) Curated1
Sequence conflicti491S → Y in AAG33382 (Ref. 2) Curated1
Sequence conflicti1022N → K in BAB84297 (PubMed:11050005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070212271E → K in CMD1LL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200052869EnsemblClinVar.1
Natural variantiVAR_070213291P → L in CMD1LL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397514744EnsemblClinVar.1
Natural variantiVAR_031433533S → P3 PublicationsCorresponds to variant dbSNP:rs870124EnsemblClinVar.1
Natural variantiVAR_031434633P → L. Corresponds to variant dbSNP:rs2493292EnsemblClinVar.1
Natural variantiVAR_070214816N → S in LVNC8. 1 PublicationCorresponds to variant dbSNP:rs397514743EnsemblClinVar.1
Natural variantiVAR_070215887L → P in CMD1LL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202115331EnsemblClinVar.1
Natural variantiVAR_0702161101V → M1 PublicationCorresponds to variant dbSNP:rs201654872EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0380631 – 184Missing in isoform 4. CuratedAdd BLAST184
Alternative sequenceiVSP_038064191Q → QV in isoform 3. 1 Publication1
Alternative sequenceiVSP_038065868Missing in isoform 3. 1 Publication1
Alternative sequenceiVSP_0069321233 – 1251Missing in isoform 2. 1 PublicationAdd BLAST19

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB078876 mRNA Translation: BAB84297.1
AF294278 mRNA Translation: AAG33382.1
AB051462 mRNA Translation: BAB21766.2 Different initiation.
AL008733 Genomic DNA No translation available.
AL354743 Genomic DNA No translation available.
AL512383 Genomic DNA No translation available.
AL590438 Genomic DNA No translation available.
BC161614 mRNA Translation: AAI61614.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS41236.2 [Q9HAZ2-1]
CCDS44048.2 [Q9HAZ2-2]

NCBI Reference Sequences

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RefSeqi
NP_071397.3, NM_022114.3 [Q9HAZ2-1]
NP_955533.2, NM_199454.2 [Q9HAZ2-2]
XP_011540247.1, XM_011541945.2 [Q9HAZ2-4]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.99500

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000270722; ENSP00000270722; ENSG00000142611 [Q9HAZ2-1]
ENST00000378391; ENSP00000367643; ENSG00000142611 [Q9HAZ2-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
63976

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:63976

UCSC genome browser

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UCSCi
uc001ake.4 human [Q9HAZ2-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Chromosomal rearrangement, 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

<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
AB078876 mRNA Translation: BAB84297.1
AF294278 mRNA Translation: AAG33382.1
AB051462 mRNA Translation: BAB21766.2 Different initiation.
AL008733 Genomic DNA No translation available.
AL354743 Genomic DNA No translation available.
AL512383 Genomic DNA No translation available.
AL590438 Genomic DNA No translation available.
BC161614 mRNA Translation: AAI61614.1
CCDSiCCDS41236.2 [Q9HAZ2-1]
CCDS44048.2 [Q9HAZ2-2]
RefSeqiNP_071397.3, NM_022114.3 [Q9HAZ2-1]
NP_955533.2, NM_199454.2 [Q9HAZ2-2]
XP_011540247.1, XM_011541945.2 [Q9HAZ2-4]
UniGeneiHs.99500

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
2N1INMR-A54-226[»]
6BW4X-ray2.00B/D1-12[»]
ProteinModelPortaliQ9HAZ2
SMRiQ9HAZ2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122023, 7 interactors
IntActiQ9HAZ2, 2 interactors
STRINGi9606.ENSP00000270722

PTM databases

iPTMnetiQ9HAZ2
PhosphoSitePlusiQ9HAZ2

Polymorphism and mutation databases

BioMutaiPRDM16
DMDMi259016328

Proteomic databases

MaxQBiQ9HAZ2
PaxDbiQ9HAZ2
PeptideAtlasiQ9HAZ2
PRIDEiQ9HAZ2
ProteomicsDBi81460
81461 [Q9HAZ2-2]
81462 [Q9HAZ2-3]
81463 [Q9HAZ2-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
63976
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000270722; ENSP00000270722; ENSG00000142611 [Q9HAZ2-1]
ENST00000378391; ENSP00000367643; ENSG00000142611 [Q9HAZ2-2]
GeneIDi63976
KEGGihsa:63976
UCSCiuc001ake.4 human [Q9HAZ2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
63976
DisGeNETi63976
EuPathDBiHostDB:ENSG00000142611.16

GeneCards: human genes, protein and diseases

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GeneCardsi
PRDM16
HGNCiHGNC:14000 PRDM16
HPAiHPA050343
HPA060467
MalaCardsiPRDM16
MIMi605557 gene
615373 phenotype
neXtProtiNX_Q9HAZ2
OpenTargetsiENSG00000142611
Orphaneti1606 1p36 deletion syndrome
154 Familial isolated dilated cardiomyopathy
54260 Left ventricular noncompaction
PharmGKBiPA33714

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000160951
HOVERGENiHBG005619
InParanoidiQ9HAZ2
KOiK22410
OMAiGMQEKKM
OrthoDBiEOG091G0BYE
PhylomeDBiQ9HAZ2
TreeFamiTF315309

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
SIGNORiQ9HAZ2

Miscellaneous databases

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

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ChiTaRSi
PRDM16 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PRDM16

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

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GenomeRNAii
63976

Protein Ontology

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PROi
PR:Q9HAZ2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000142611 Expressed in 153 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_PRDM16
ExpressionAtlasiQ9HAZ2 baseline and differential
GenevisibleiQ9HAZ2 HS

Family and domain databases

InterProiView protein in InterPro
IPR030414 PRDM16
IPR001214 SET_dom
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR24393:SF5 PTHR24393:SF5, 1 hit
PfamiView protein in Pfam
PF00096 zf-C2H2, 9 hits
SMARTiView protein in SMART
SM00317 SET, 1 hit
SM00355 ZnF_C2H2, 10 hits
SUPFAMiSSF57667 SSF57667, 5 hits
PROSITEiView protein in PROSITE
PS50280 SET, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 8 hits
PS50157 ZINC_FINGER_C2H2_2, 10 hits

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiPRD16_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: Q9HAZ2
Secondary accession number(s): A6NHQ8
, B1AJP7, B1AJP8, B1AJP9, B1WB48, Q8WYJ9, Q9C0I8
<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: November 16, 2001
Last sequence update: September 22, 2009
Last modified: December 5, 2018
This is version 175 of the entry and version 3 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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