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Q9HAZ2

- PRD16_HUMAN

UniProt

Q9HAZ2 - PRD16_HUMAN

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Protein
PR domain zinc finger protein 16
Gene
PRDM16, KIAA1675, MEL1, PFM13
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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; atypical
Add
BLAST
Zinc fingeri281 – 30323C2H2-type 2
Add
BLAST
Zinc fingeri309 – 33123C2H2-type 3
Add
BLAST
Zinc fingeri337 – 36024C2H2-type 4
Add
BLAST
Zinc fingeri366 – 38823C2H2-type 5
Add
BLAST
Zinc fingeri394 – 41623C2H2-type 6
Add
BLAST
Zinc fingeri423 – 44523C2H2-type 7; atypical
Add
BLAST
Zinc fingeri951 – 97323C2H2-type 8
Add
BLAST
Zinc fingeri979 – 100224C2H2-type 9
Add
BLAST
Zinc fingeri1008 – 103225C2H2-type 10
Add
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 from RNA polymerase II promoter Source: UniProtKB
  4. negative regulation of transcription, DNA-templated 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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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.3 Publications

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 16
PRO_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.1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi122023. 8 interactions.
IntActiQ9HAZ2. 2 interactions.
STRINGi9606.ENSP00000367651.

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini82 – 211130SET
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni679 – 1038360Interaction with CTBP1 and CTBP2 By similarity
Add
BLAST
Regioni739 – 1276538Mediates interaction with SKI and regulation of TGF-beta signaling
Add
BLAST

Compositional bias

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

Sequence similaritiesi

Contains 10 C2H2-type zinc fingers.
Contains 1 SET domain.

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.

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.
VSP_038063Add
BLAST
Alternative sequencei191 – 1911Q → QV in isoform 3.
VSP_038064
Alternative sequencei868 – 8681Missing in isoform 3.
VSP_038065
Alternative sequencei1233 – 125119Missing in isoform 2.
VSP_006932Add
BLAST

Sequence conflict

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

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]
ENST00000378398; ENSP00000367651; ENSG00000142611. [Q9HAZ2-3]
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. 8 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 ]
ENST00000378398 ; ENSP00000367651 ; ENSG00000142611 . [Q9HAZ2-3 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 130 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

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