Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9HAZ2 (PRD16_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:PRDM16
Synonyms:KIAA1675, MEL1, PFM13
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1276 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.7 Ref.9 Ref.10

Subunit structure

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. Ref.10

Subcellular location

Nucleus Ref.10.

Tissue specificity

Expressed in uterus and kidney. Expressed in both cardiomyocytes and interstitial cells. Ref.1 Ref.7 Ref.11

Involvement in disease

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. Ref.1 Ref.8 Ref.9 Ref.11

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. Ref.1 Ref.8 Ref.9 Ref.11

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. Ref.1 Ref.8 Ref.9

Sequence similarities

Contains 10 C2H2-type zinc fingers.

Contains 1 SET domain.

Sequence caution

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

Ontologies

Keywords
   Biological processDifferentiation
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative promoter usage
Alternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseCardiomyopathy
Disease mutation
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Molecular functionActivator
Repressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbrown fat cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of granulocyte differentiation

Inferred from direct assay Ref.7. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.10. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from direct assay Ref.7. Source: UniProtKB

negative regulation of transforming growth factor beta receptor signaling pathway

Inferred from direct assay Ref.9. Source: UniProtKB

neurogenesis

Inferred from electronic annotation. Source: Ensembl

palate development

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription, DNA-templated

Inferred from direct assay Ref.7. Source: UniProtKB

regulation of cellular respiration

Inferred from sequence or structural similarity. Source: UniProtKB

somatic stem cell maintenance

Inferred from electronic annotation. Source: Ensembl

tongue development

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

white fat cell differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from direct assay Ref.10. Source: UniProtKB

transcriptional repressor complex

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionmetal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction PubMed 21516122PubMed 21516122. Source: IntAct

sequence-specific DNA binding

Inferred from direct assay Ref.7. Source: UniProtKB

transcription coactivator activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Ctbp2P565462EBI-5282871,EBI-1384883From a different organism.

Alternative products

This entry describes 4 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HAZ2-1)

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.
Isoform 2 (identifier: Q9HAZ2-2)

Also known as: MEL1L;

The sequence of this isoform differs from the canonical sequence as follows:
     1233-1251: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9HAZ2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     191-191: Q → QV
     868-868: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9HAZ2-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12761276PR domain zinc finger protein 16
PRO_0000047773

Regions

Domain82 – 211130SET
Zinc finger230 – 25324C2H2-type 1; atypical
Zinc finger281 – 30323C2H2-type 2
Zinc finger309 – 33123C2H2-type 3
Zinc finger337 – 36024C2H2-type 4
Zinc finger366 – 38823C2H2-type 5
Zinc finger394 – 41623C2H2-type 6
Zinc finger423 – 44523C2H2-type 7; atypical
Zinc finger951 – 97323C2H2-type 8
Zinc finger979 – 100224C2H2-type 9
Zinc finger1008 – 103225C2H2-type 10
Region679 – 1038360Interaction with CTBP1 and CTBP2 By similarity
Region739 – 1276538Mediates interaction with SKI and regulation of TGF-beta signaling
Compositional bias459 – 55799Pro-rich

Natural variations

Alternative sequence1 – 184184Missing in isoform 4.
VSP_038063
Alternative sequence1911Q → QV in isoform 3.
VSP_038064
Alternative sequence8681Missing in isoform 3.
VSP_038065
Alternative sequence1233 – 125119Missing in isoform 2.
VSP_006932
Natural variant2711E → K in CMD1LL. Ref.11
VAR_070212
Natural variant2911P → L in CMD1LL. Ref.11
VAR_070213
Natural variant5331S → P. Ref.1 Ref.3 Ref.6
Corresponds to variant rs870124 [ dbSNP | Ensembl ].
VAR_031433
Natural variant6331P → L.
Corresponds to variant rs2493292 [ dbSNP | Ensembl ].
VAR_031434
Natural variant8161N → S in LVNC8. Ref.11
VAR_070214
Natural variant8871L → P in CMD1LL. Ref.11
VAR_070215
Natural variant11011V → M in CMD1LL. Ref.11
VAR_070216

Experimental info

Sequence conflict50 – 523PPS → SPP in AAG33382. Ref.2
Sequence conflict3241L → F in AAG33382. Ref.2
Sequence conflict4911S → Y in AAG33382. Ref.2
Sequence conflict10221N → K in BAB84297. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 22, 2009. Version 3.
Checksum: AD16C5C0EE89A528

FASTA1,276140,251
        10         20         30         40         50         60 
MRSKARARKL AKSDGDVVNN MYEPNRDLLA SHSAEDEAED SAMSPIPVGP PSPFPTSEDF 

        70         80         90        100        110        120 
TPKEGSPYEA PVYIPEDIPI PADFELRESS IPGAGLGVWA KRKMEAGERL GPCVVVPRAA 

       130        140        150        160        170        180 
AKETDFGWEQ ILTDVEVSPQ EGCITKISED LGSEKFCVDA NQAGAGSWLK YIRVACSCDD 

       190        200        210        220        230        240 
QNLTMCQISE QIYYKVIKDI EPGEELLVHV KEGVYPLGTV PPGLDEEPTF RCDECDELFQ 

       250        260        270        280        290        300 
SKLDLRRHKK YTCGSVGAAL YEGLAEELKP EGLGGGSGQA HECKDCERMF PNKYSLEQHM 

       310        320        330        340        350        360 
VIHTEEREYK CDQCPKAFNW KSNLIRHQMS HDSGKRFECE NCVKVFTDPS NLQRHIRSQH 

       370        380        390        400        410        420 
VGARAHACPD CGKTFATSSG LKQHKHIHST VKPFICEVCH KSYTQFSNLC RHKRMHADCR 

       430        440        450        460        470        480 
TQIKCKDCGQ MFSTTSSLNK HRRFCEGKNH YTPGGIFAPG LPLTPSPMMD KAKPSPSLNH 

       490        500        510        520        530        540 
ASLGFNEYFP SRPHPGSLPF STAPPTFPAL TPGFPGIFPP SLYPRPPLLP PTSLLKSPLN 

       550        560        570        580        590        600 
HTQDAKLPSP LGNPALPLVS AVSNSSQGTT AAAGPEEKFE SRLEDSCVEK LKTRSSDMSD 

       610        620        630        640        650        660 
GSDFEDVNTT TGTDLDTTTG TGSDLDSDVD SDPDKDKGKG KSAEGQPKFG GGLAPPGAPN 

       670        680        690        700        710        720 
SVAEVPVFYS QHSFFPPPDE QLLTATGAAG DSIKAIASIA EKYFGPGFMG MQEKKLGSLP 

       730        740        750        760        770        780 
YHSAFPFQFL PNFPHSLYPF TDRALAHNLL VKAEPKSPRD ALKVGGPSAE CPFDLTTKPK 

       790        800        810        820        830        840 
DVKPILPMPK GPSAPASGEE QPLDLSIGSR ARASQNGGGR EPRKNHVYGE RKLGAGEGLP 

       850        860        870        880        890        900 
QVCPARMPQQ PPLHYAKPSP FFMDPIYSRV EKRKVTDPVG ALKEKYLRPS PLLFHPQMSA 

       910        920        930        940        950        960 
IETMTEKLES FAAMKADSGS SLQPLPHHPF NFRSPPPTLS DPILRKGKER YTCRYCGKIF 

       970        980        990       1000       1010       1020 
PRSANLTRHL RTHTGEQPYR CKYCDRSFSI SSNLQRHVRN IHNKEKPFKC HLCNRCFGQQ 

      1030       1040       1050       1060       1070       1080 
TNLDRHLKKH EHENAPVSQH PGVLTNHLGT SASSPTSESD NHALLDEKED SYFSEIRNFI 

      1090       1100       1110       1120       1130       1140 
ANSEMNQAST RTEKRADMQI VDGSAQCPGL ASEKQEDVEE EDDDDLEEDD EDSLAGKSQD 

      1150       1160       1170       1180       1190       1200 
DTVSPAPEPQ AAYEDEEDEE PAASLAVGFD HTRRCAEDHE GGLLALEPMP TFGKGLDLRR 

      1210       1220       1230       1240       1250       1260 
AAEEAFEVKD VLNSTLDSEA LKHTLCRQAK NQAYAMMLSL SEDTPLHTPS QGSLDAWLKV 

      1270 
TGATSESGAF HPINHL 

« Hide

Isoform 2 (MEL1L) [UniParc].

Checksum: 1CB045F5BBFE9D20
Show »

FASTA1,257138,177
Isoform 3 [UniParc].

Checksum: A5A073C5C5F26306
Show »

FASTA1,276140,263
Isoform 4 (MEL1S) [UniParc].

Checksum: 7A24088D0A73B54F
Show »

FASTA1,092120,338

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"SKI and MEL1 cooperate to inhibit transforming growth factor-beta signal in gastric cancer cells."
Takahata M., Inoue Y., Tsuda H., Imoto I., Koinuma D., Hayashi M., Ichikura T., Yamori T., Nagasaki K., Yoshida M., Matsuoka M., Morishita K., Yuki K., Hanyu A., Miyazawa K., Inazawa J., Miyazono K., Imamura T.
J. Biol. Chem. 284:3334-3344(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH HDAC1; SKI; SMAD2 AND SMAD3.
[11]"Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy."
Arndt A.K., Schafer S., Drenckhahn J.D., Sabeh M.K., Plovie E.R., Caliebe A., Klopocki E., Musso G., Werdich A.A., Kalwa H., Heinig M., Padera R.F., Wassilew K., Bluhm J., Harnack C., Martitz J., Barton P.J., Greutmann M. expand/collapse author list , Berger F., Hubner N., Siebert R., Kramer H.H., Cook S.A., MacRae C.A., Klaassen S.
Am. J. Hum. Genet. 93:67-77(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LVNC8 SER-816, VARIANTS CMD1LL LYS-271; LEU-291; PRO-887 AND MET-1101, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB078876 mRNA. Translation: BAB84297.1.
AF294278 mRNA. Translation: AAG33382.1.
AB051462 mRNA. Translation: BAB21766.2. Different initiation.
AL512383 expand/collapse EMBL AC list , AL008733, AL354743, AL590438 Genomic DNA. Translation: CAH71132.1.
AL512383 expand/collapse EMBL AC list , AL008733, AL354743, AL590438 Genomic DNA. Translation: CAH71133.1.
AL512383 expand/collapse EMBL AC list , AL008733, AL354743, AL590438 Genomic DNA. Translation: CAH71134.1.
AL590438 expand/collapse EMBL AC list , AL008733, AL354743, AL512383 Genomic DNA. Translation: CAH71529.1.
AL590438 expand/collapse EMBL AC list , AL008733, AL354743, AL512383 Genomic DNA. Translation: CAH71530.1.
AL590438 expand/collapse EMBL AC list , AL008733, AL354743, AL512383 Genomic DNA. Translation: CAH71531.1.
AL008733 expand/collapse EMBL AC list , AL354743, AL512383, AL590438 Genomic DNA. Translation: CAI19629.1.
AL008733 expand/collapse EMBL AC list , AL354743, AL512383, AL590438 Genomic DNA. Translation: CAI19630.1.
AL008733 expand/collapse EMBL AC list , AL354743, AL512383, AL590438 Genomic DNA. Translation: CAI19631.1.
AL354743 expand/collapse EMBL AC list , AL008733, AL512383, AL590438 Genomic DNA. Translation: CAI22788.1.
AL354743 expand/collapse EMBL AC list , AL008733, AL512383, AL590438 Genomic DNA. Translation: CAI22789.1.
AL354743 expand/collapse EMBL AC list , AL008733, AL512383, AL590438 Genomic DNA. Translation: CAI22790.1.
BC161614 mRNA. Translation: AAI61614.1.
CCDSCCDS41236.2. [Q9HAZ2-1]
CCDS44048.2. [Q9HAZ2-2]
RefSeqNP_071397.3. NM_022114.3. [Q9HAZ2-1]
NP_955533.2. NM_199454.2. [Q9HAZ2-2]
UniGeneHs.99500.

3D structure databases

ProteinModelPortalQ9HAZ2.
SMRQ9HAZ2. Positions 25-210, 230-495, 877-1076.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122023. 8 interactions.
IntActQ9HAZ2. 2 interactions.
STRING9606.ENSP00000367651.

PTM databases

PhosphoSiteQ9HAZ2.

Polymorphism databases

DMDM259016328.

Proteomic databases

MaxQBQ9HAZ2.
PaxDbQ9HAZ2.
PRIDEQ9HAZ2.

Protocols and materials databases

DNASU63976.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000270722; ENSP00000270722; ENSG00000142611. [Q9HAZ2-1]
ENST00000378391; ENSP00000367643; ENSG00000142611. [Q9HAZ2-2]
ENST00000378398; ENSP00000367651; ENSG00000142611. [Q9HAZ2-3]
GeneID63976.
KEGGhsa:63976.
UCSCuc001ake.3. human. [Q9HAZ2-2]
uc001akf.3. human. [Q9HAZ2-1]

Organism-specific databases

CTD63976.
GeneCardsGC01P003008.
HGNCHGNC:14000. PRDM16.
MIM605557. gene.
615373. phenotype.
neXtProtNX_Q9HAZ2.
Orphanet1606. 1p36 deletion syndrome.
154. Familial isolated dilated cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBPA33714.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOVERGENHBG005619.
OMANEYFPSR.
PhylomeDBQ9HAZ2.
TreeFamTF315309.

Gene expression databases

ArrayExpressQ9HAZ2.
BgeeQ9HAZ2.
CleanExHS_PRDM16.
GenevestigatorQ9HAZ2.

Family and domain databases

Gene3D3.30.160.60. 8 hits.
InterProIPR001214. SET_dom.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF00096. zf-C2H2. 4 hits.
[Graphical view]
SMARTSM00317. SET. 1 hit.
SM00355. ZnF_C2H2. 10 hits.
[Graphical view]
PROSITEPS50280. SET. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 8 hits.
PS50157. ZINC_FINGER_C2H2_2. 10 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPRDM16.
GenomeRNAi63976.
NextBio65776.
PROQ9HAZ2.
SOURCESearch...

Entry information

Entry namePRD16_HUMAN
AccessionPrimary (citable) accession number: Q9HAZ2
Secondary accession number(s): A6NHQ8 expand/collapse secondary AC list , B1AJP7, B1AJP8, B1AJP9, B1WB48, Q8WYJ9, Q9C0I8
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM