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Q9HAZ2

- PRD16_HUMAN

UniProt

Q9HAZ2 - PRD16_HUMAN

Protein

PR domain zinc finger protein 16

Gene

PRDM16

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 3 (22 Sep 2009)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri230 – 25324C2H2-type 1; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri281 – 30323C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri309 – 33123C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri337 – 36024C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri366 – 38823C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri394 – 41623C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri423 – 44523C2H2-type 7; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri951 – 97323C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri979 – 100224C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1008 – 103225C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. protein binding Source: IntAct
    3. sequence-specific DNA binding Source: UniProtKB
    4. transcription coactivator activity Source: UniProtKB

    GO - Biological processi

    1. brown fat cell differentiation Source: UniProtKB
    2. negative regulation of granulocyte differentiation Source: UniProtKB
    3. negative regulation of transcription, DNA-templated Source: UniProtKB
    4. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    5. negative regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
    6. neurogenesis Source: Ensembl
    7. palate development Source: Ensembl
    8. positive regulation of transcription, DNA-templated Source: UniProtKB
    9. regulation of cellular respiration Source: UniProtKB
    10. somatic stem cell maintenance Source: Ensembl
    11. tongue development Source: Ensembl
    12. transcription, DNA-templated Source: UniProtKB-KW
    13. white fat cell differentiation Source: Ensembl

    Keywords - Molecular functioni

    Activator, Repressor

    Keywords - Biological processi

    Differentiation, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    PR domain zinc finger protein 16
    Alternative name(s):
    PR domain-containing protein 16
    Transcription factor MEL1
    Short name:
    MDS1/EVI1-like gene 1
    Gene namesi
    Name:PRDM16
    Synonyms:KIAA1675, MEL1, PFM13
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:14000. PRDM16.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. nucleus Source: UniProtKB
    2. transcriptional repressor complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Left ventricular non-compaction 8 (LVNC8) [MIM:615373]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti816 – 8161N → S in LVNC8. 1 Publication
    VAR_070214
    Cardiomyopathy, dilated 1LL (CMD1LL) [MIM:615373]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti271 – 2711E → K in CMD1LL. 1 Publication
    VAR_070212
    Natural varianti291 – 2911P → L in CMD1LL. 1 Publication
    VAR_070213
    Natural varianti887 – 8871L → P in CMD1LL. 1 Publication
    VAR_070215
    Natural varianti1101 – 11011V → M in CMD1LL. 1 Publication
    VAR_070216
    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.

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi615373. phenotype.
    Orphaneti1606. 1p36 deletion syndrome.
    154. Familial isolated dilated cardiomyopathy.
    54260. Left ventricular noncompaction.
    PharmGKBiPA33714.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12761276PR domain zinc finger protein 16PRO_0000047773Add
    BLAST

    Proteomic databases

    MaxQBiQ9HAZ2.
    PaxDbiQ9HAZ2.
    PRIDEiQ9HAZ2.

    PTM databases

    PhosphoSiteiQ9HAZ2.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ9HAZ2.
    BgeeiQ9HAZ2.
    CleanExiHS_PRDM16.
    GenevestigatoriQ9HAZ2.

    Interactioni

    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. Interacts with SMAD3 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.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Ctbp2P565462EBI-5282871,EBI-1384883From a different organism.

    Protein-protein interaction databases

    BioGridi122023. 5 interactions.
    IntActiQ9HAZ2. 2 interactions.
    STRINGi9606.ENSP00000367651.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HAZ2.
    SMRiQ9HAZ2. Positions 25-210, 230-495, 877-1076.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini82 – 211130SETPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni679 – 1038360Interaction with CTBP1 and CTBP2By similarityAdd
    BLAST
    Regioni739 – 1276538Mediates interaction with SKI and regulation of TGF-beta signalingAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi459 – 55799Pro-richAdd
    BLAST

    Sequence similaritiesi

    Contains 10 C2H2-type zinc fingers.PROSITE-ProRule annotation
    Contains 1 SET domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri230 – 25324C2H2-type 1; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri281 – 30323C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri309 – 33123C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri337 – 36024C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri366 – 38823C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri394 – 41623C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri423 – 44523C2H2-type 7; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri951 – 97323C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri979 – 100224C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri1008 – 103225C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOVERGENiHBG005619.
    OMAiNEYFPSR.
    PhylomeDBiQ9HAZ2.
    TreeFamiTF315309.

    Family and domain databases

    Gene3Di3.30.160.60. 8 hits.
    InterProiIPR001214. SET_dom.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    PfamiPF00096. zf-C2H2. 4 hits.
    [Graphical view]
    SMARTiSM00317. SET. 1 hit.
    SM00355. ZnF_C2H2. 10 hits.
    [Graphical view]
    PROSITEiPS50280. SET. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 8 hits.
    PS50157. ZINC_FINGER_C2H2_2. 10 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative promoter usage and alternative splicing. Align

    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

    MRSKARARKL AKSDGDVVNN MYEPNRDLLA SHSAEDEAED SAMSPIPVGP     50
    PSPFPTSEDF TPKEGSPYEA PVYIPEDIPI PADFELRESS IPGAGLGVWA 100
    KRKMEAGERL GPCVVVPRAA AKETDFGWEQ ILTDVEVSPQ EGCITKISED 150
    LGSEKFCVDA NQAGAGSWLK YIRVACSCDD QNLTMCQISE QIYYKVIKDI 200
    EPGEELLVHV KEGVYPLGTV PPGLDEEPTF RCDECDELFQ SKLDLRRHKK 250
    YTCGSVGAAL YEGLAEELKP EGLGGGSGQA HECKDCERMF PNKYSLEQHM 300
    VIHTEEREYK CDQCPKAFNW KSNLIRHQMS HDSGKRFECE NCVKVFTDPS 350
    NLQRHIRSQH VGARAHACPD CGKTFATSSG LKQHKHIHST VKPFICEVCH 400
    KSYTQFSNLC RHKRMHADCR TQIKCKDCGQ MFSTTSSLNK HRRFCEGKNH 450
    YTPGGIFAPG LPLTPSPMMD KAKPSPSLNH ASLGFNEYFP SRPHPGSLPF 500
    STAPPTFPAL TPGFPGIFPP SLYPRPPLLP PTSLLKSPLN HTQDAKLPSP 550
    LGNPALPLVS AVSNSSQGTT AAAGPEEKFE SRLEDSCVEK LKTRSSDMSD 600
    GSDFEDVNTT TGTDLDTTTG TGSDLDSDVD SDPDKDKGKG KSAEGQPKFG 650
    GGLAPPGAPN SVAEVPVFYS QHSFFPPPDE QLLTATGAAG DSIKAIASIA 700
    EKYFGPGFMG MQEKKLGSLP YHSAFPFQFL PNFPHSLYPF TDRALAHNLL 750
    VKAEPKSPRD ALKVGGPSAE CPFDLTTKPK DVKPILPMPK GPSAPASGEE 800
    QPLDLSIGSR ARASQNGGGR EPRKNHVYGE RKLGAGEGLP QVCPARMPQQ 850
    PPLHYAKPSP FFMDPIYSRV EKRKVTDPVG ALKEKYLRPS PLLFHPQMSA 900
    IETMTEKLES FAAMKADSGS SLQPLPHHPF NFRSPPPTLS DPILRKGKER 950
    YTCRYCGKIF PRSANLTRHL RTHTGEQPYR CKYCDRSFSI SSNLQRHVRN 1000
    IHNKEKPFKC HLCNRCFGQQ TNLDRHLKKH EHENAPVSQH PGVLTNHLGT 1050
    SASSPTSESD NHALLDEKED SYFSEIRNFI ANSEMNQAST RTEKRADMQI 1100
    VDGSAQCPGL ASEKQEDVEE EDDDDLEEDD EDSLAGKSQD DTVSPAPEPQ 1150
    AAYEDEEDEE PAASLAVGFD HTRRCAEDHE GGLLALEPMP TFGKGLDLRR 1200
    AAEEAFEVKD VLNSTLDSEA LKHTLCRQAK NQAYAMMLSL SEDTPLHTPS 1250
    QGSLDAWLKV TGATSESGAF HPINHL 1276
    Length:1,276
    Mass (Da):140,251
    Last modified:September 22, 2009 - v3
    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.

    Show »
    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.

    Show »
    Length:1,092
    Mass (Da):120,338
    Checksum:i7A24088D0A73B54F
    GO

    Sequence cautioni

    The sequence BAB21766.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti50 – 523PPS → SPP in AAG33382. 1 PublicationCurated
    Sequence conflicti324 – 3241L → F in AAG33382. 1 PublicationCurated
    Sequence conflicti491 – 4911S → Y in AAG33382. 1 PublicationCurated
    Sequence conflicti1022 – 10221N → K in BAB84297. (PubMed:11050005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti271 – 2711E → K in CMD1LL. 1 Publication
    VAR_070212
    Natural varianti291 – 2911P → L in CMD1LL. 1 Publication
    VAR_070213
    Natural varianti533 – 5331S → P.3 Publications
    Corresponds to variant rs870124 [ dbSNP | Ensembl ].
    VAR_031433
    Natural varianti633 – 6331P → L.
    Corresponds to variant rs2493292 [ dbSNP | Ensembl ].
    VAR_031434
    Natural varianti816 – 8161N → S in LVNC8. 1 Publication
    VAR_070214
    Natural varianti887 – 8871L → P in CMD1LL. 1 Publication
    VAR_070215
    Natural varianti1101 – 11011V → M in CMD1LL. 1 Publication
    VAR_070216

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 184184Missing in isoform 4. CuratedVSP_038063Add
    BLAST
    Alternative sequencei191 – 1911Q → QV in isoform 3. 1 PublicationVSP_038064
    Alternative sequencei868 – 8681Missing in isoform 3. 1 PublicationVSP_038065
    Alternative sequencei1233 – 125119Missing in isoform 2. 1 PublicationVSP_006932Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB078876 mRNA. Translation: BAB84297.1.
    AF294278 mRNA. Translation: AAG33382.1.
    AB051462 mRNA. Translation: BAB21766.2. Different initiation.
    AL512383
    , AL008733, AL354743, AL590438 Genomic DNA. Translation: CAH71132.1.
    AL512383
    , AL008733, AL354743, AL590438 Genomic DNA. Translation: CAH71133.1.
    AL512383
    , AL008733, AL354743, AL590438 Genomic DNA. Translation: CAH71134.1.
    AL590438
    , AL008733, AL354743, AL512383 Genomic DNA. Translation: CAH71529.1.
    AL590438
    , AL008733, AL354743, AL512383 Genomic DNA. Translation: CAH71530.1.
    AL590438
    , AL008733, AL354743, AL512383 Genomic DNA. Translation: CAH71531.1.
    AL008733
    , AL354743, AL512383, AL590438 Genomic DNA. Translation: CAI19629.1.
    AL008733
    , AL354743, AL512383, AL590438 Genomic DNA. Translation: CAI19630.1.
    AL008733
    , AL354743, AL512383, AL590438 Genomic DNA. Translation: CAI19631.1.
    AL354743
    , AL008733, AL512383, AL590438 Genomic DNA. Translation: CAI22788.1.
    AL354743
    , AL008733, AL512383, AL590438 Genomic DNA. Translation: CAI22789.1.
    AL354743
    , AL008733, AL512383, AL590438 Genomic DNA. Translation: CAI22790.1.
    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]
    UniGeneiHs.99500.

    Genome annotation databases

    EnsembliENST00000270722; ENSP00000270722; ENSG00000142611. [Q9HAZ2-1]
    ENST00000378391; ENSP00000367643; ENSG00000142611. [Q9HAZ2-2]
    GeneIDi63976.
    KEGGihsa:63976.
    UCSCiuc001ake.3. human. [Q9HAZ2-2]
    uc001akf.3. human. [Q9HAZ2-1]

    Polymorphism databases

    DMDMi259016328.

    Keywords - Coding sequence diversityi

    Alternative promoter usage, Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB078876 mRNA. Translation: BAB84297.1 .
    AF294278 mRNA. Translation: AAG33382.1 .
    AB051462 mRNA. Translation: BAB21766.2 . Different initiation.
    AL512383
    , AL008733 , AL354743 , AL590438 Genomic DNA. Translation: CAH71132.1 .
    AL512383
    , AL008733 , AL354743 , AL590438 Genomic DNA. Translation: CAH71133.1 .
    AL512383
    , AL008733 , AL354743 , AL590438 Genomic DNA. Translation: CAH71134.1 .
    AL590438
    , AL008733 , AL354743 , AL512383 Genomic DNA. Translation: CAH71529.1 .
    AL590438
    , AL008733 , AL354743 , AL512383 Genomic DNA. Translation: CAH71530.1 .
    AL590438
    , AL008733 , AL354743 , AL512383 Genomic DNA. Translation: CAH71531.1 .
    AL008733
    , AL354743 , AL512383 , AL590438 Genomic DNA. Translation: CAI19629.1 .
    AL008733
    , AL354743 , AL512383 , AL590438 Genomic DNA. Translation: CAI19630.1 .
    AL008733
    , AL354743 , AL512383 , AL590438 Genomic DNA. Translation: CAI19631.1 .
    AL354743
    , AL008733 , AL512383 , AL590438 Genomic DNA. Translation: CAI22788.1 .
    AL354743
    , AL008733 , AL512383 , AL590438 Genomic DNA. Translation: CAI22789.1 .
    AL354743
    , AL008733 , AL512383 , AL590438 Genomic DNA. Translation: CAI22790.1 .
    BC161614 mRNA. Translation: AAI61614.1 .
    CCDSi CCDS41236.2. [Q9HAZ2-1 ]
    CCDS44048.2. [Q9HAZ2-2 ]
    RefSeqi NP_071397.3. NM_022114.3. [Q9HAZ2-1 ]
    NP_955533.2. NM_199454.2. [Q9HAZ2-2 ]
    UniGenei Hs.99500.

    3D structure databases

    ProteinModelPortali Q9HAZ2.
    SMRi Q9HAZ2. Positions 25-210, 230-495, 877-1076.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122023. 5 interactions.
    IntActi Q9HAZ2. 2 interactions.
    STRINGi 9606.ENSP00000367651.

    PTM databases

    PhosphoSitei Q9HAZ2.

    Polymorphism databases

    DMDMi 259016328.

    Proteomic databases

    MaxQBi Q9HAZ2.
    PaxDbi Q9HAZ2.
    PRIDEi Q9HAZ2.

    Protocols and materials databases

    DNASUi 63976.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000270722 ; ENSP00000270722 ; ENSG00000142611 . [Q9HAZ2-1 ]
    ENST00000378391 ; ENSP00000367643 ; ENSG00000142611 . [Q9HAZ2-2 ]
    GeneIDi 63976.
    KEGGi hsa:63976.
    UCSCi uc001ake.3. human. [Q9HAZ2-2 ]
    uc001akf.3. human. [Q9HAZ2-1 ]

    Organism-specific databases

    CTDi 63976.
    GeneCardsi GC01P003008.
    HGNCi HGNC:14000. PRDM16.
    MIMi 605557. gene.
    615373. phenotype.
    neXtProti NX_Q9HAZ2.
    Orphaneti 1606. 1p36 deletion syndrome.
    154. Familial isolated dilated cardiomyopathy.
    54260. Left ventricular noncompaction.
    PharmGKBi PA33714.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOVERGENi HBG005619.
    OMAi NEYFPSR.
    PhylomeDBi Q9HAZ2.
    TreeFami TF315309.

    Miscellaneous databases

    GeneWikii PRDM16.
    GenomeRNAii 63976.
    NextBioi 65776.
    PROi Q9HAZ2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HAZ2.
    Bgeei Q9HAZ2.
    CleanExi HS_PRDM16.
    Genevestigatori Q9HAZ2.

    Family and domain databases

    Gene3Di 3.30.160.60. 8 hits.
    InterProi IPR001214. SET_dom.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    Pfami PF00096. zf-C2H2. 4 hits.
    [Graphical view ]
    SMARTi SM00317. SET. 1 hit.
    SM00355. ZnF_C2H2. 10 hits.
    [Graphical view ]
    PROSITEi PS50280. SET. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 8 hits.
    PS50157. ZINC_FINGER_C2H2_2. 10 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)-positive leukemia cells."
      Mochizuki N., Shimizu S., Nagasawa T., Tanaka H., Taniwaki M., Yokota J., Morishita K.
      Blood 96:3209-3214(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT PRO-533, CHROMOSOMAL TRANSLOCATION, DISEASE, TISSUE SPECIFICITY.
    2. "A family of novel PR-domain (PRDM) genes as candidate tumor suppressors."
      Fang W., Yang X.-H., Huang S.
      Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    3. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
      DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-533.
      Tissue: Brain.
    4. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-533.
    7. "A novel EVI1 gene family, MEL1, lacking a PR domain (MEL1S) is expressed mainly in t(1;3)(p36;q21)-positive AML and blocks G-CSF-induced myeloid differentiation."
      Nishikata I., Sasaki H., Iga M., Tateno Y., Imayoshi S., Asou N., Nakamura T., Morishita K.
      Blood 102:3323-3332(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, ALTERNATIVE SPLICING (ISOFORMS 2 AND 4), TISSUE SPECIFICITY.
      Tissue: Placenta.
    8. "Breakpoints at 1p36.3 in three MDS/AML(M4) patients with t(1;3)(p36;q21) occur in the first intron and in the 5' region of MEL1."
      Xinh P.T., Tri N.K., Nagao H., Nakazato H., Taketazu F., Fujisawa S., Yagasaki F., Chen Y.Z., Hayashi Y., Toyoda A., Hattori M., Sakaki Y., Tokunaga K., Sato Y.
      Genes Chromosomes Cancer 36:313-316(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION, DISEASE.
    9. "Aberrant expression of the MEL1S gene identified in association with hypomethylation in adult T-cell leukemia cells."
      Yoshida M., Nosaka K., Yasunaga J., Nishikata I., Morishita K., Matsuoka M.
      Blood 103:2753-2760(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, ALTERNATIVE SPLICING (ISOFORM 4), DISEASE.
    10. Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH HDAC1; SKI; SMAD2 AND SMAD3.
    11. Cited for: VARIANT LVNC8 SER-816, VARIANTS CMD1LL LYS-271; LEU-291; PRO-887 AND MET-1101, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiPRD16_HUMAN
    AccessioniPrimary (citable) accession number: Q9HAZ2
    Secondary accession number(s): A6NHQ8
    , B1AJP7, B1AJP8, B1AJP9, B1WB48, Q8WYJ9, Q9C0I8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: September 22, 2009
    Last modified: October 1, 2014
    This is version 131 of the entry and version 3 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3