Q9HAZ2 (PRD16_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	PRDM16
Synonyms:	KIAA1675, MEL1, PFM13

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1276 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Ref.1 Ref.7
Involvement in disease	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.

Ontologies

Keywords
Biological process	Differentiation Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative promoter usage Alternative splicing Chromosomal rearrangement Polymorphism
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Activator Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	brown 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 transforming growth factor beta receptor signaling pathway Inferred from direct assay Ref.9. Source: UniProtKB neurogenesis Inferred from electronic annotation. Source: Compara palate development Inferred from electronic annotation. Source: Compara positive regulation of transcription, DNA-dependent 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: Compara tongue development Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW white fat cell differentiation Inferred from electronic annotation. Source: Compara
Cellular_component	transcriptional repressor complex Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	sequence-specific DNA binding Inferred from direct assay Ref.7. Source: UniProtKB transcription coactivator activity Inferred from sequence or structural similarity. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Ctbp2	P56546	2	EBI-5282871,EBI-1384883	From 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1276	1276	PR domain zinc finger protein 16		PRO_0000047773
Regions
	Domain	83 – 215	133	SET
	Zinc finger	230 – 253	24	C2H2-type 1; atypical
	Zinc finger	281 – 303	23	C2H2-type 2
	Zinc finger	309 – 331	23	C2H2-type 3
	Zinc finger	337 – 360	24	C2H2-type 4
	Zinc finger	366 – 388	23	C2H2-type 5
	Zinc finger	394 – 416	23	C2H2-type 6
	Zinc finger	423 – 445	23	C2H2-type 7; atypical
	Zinc finger	951 – 973	23	C2H2-type 8
	Zinc finger	979 – 1002	24	C2H2-type 9
	Zinc finger	1008 – 1032	25	C2H2-type 10
	Region	679 – 1038	360	Interaction with CTBP1 and CTBP2 By similarity
	Region	739 – 1276	538	Mediates interaction with SKI and regulation of TGF-beta signaling
	Compositional bias	459 – 557	99	Pro-rich
Natural variations
	Alternative sequence	1 – 184	184	Missing in isoform 4.		VSP_038063
	Alternative sequence	191	1	Q → QV in isoform 3.		VSP_038064
	Alternative sequence	868	1	Missing in isoform 3.		VSP_038065
	Alternative sequence	1233 – 1251	19	Missing in isoform 2.		VSP_006932
	Natural variant	533	1	S → P. Ref.1 Ref.3 Ref.6 Corresponds to variant rs870124 [ dbSNP | Ensembl ].		VAR_031433
	Natural variant	633	1	P → L. Corresponds to variant rs2493292 [ dbSNP | Ensembl ].		VAR_031434
Experimental info
	Sequence conflict	50 – 52	3	PPS → SPP in AAG33382. Ref.2
	Sequence conflict	324	1	L → F in AAG33382. Ref.2
	Sequence conflict	491	1	S → Y in AAG33382. Ref.2
	Sequence conflict	1022	1	N → K in BAB84297. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 22, 2009. Version 3. Checksum: AD16C5C0EE89A528	FASTA	1,276	140,251
	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
	Isoform 2 (MEL1L) [UniParc]. Checksum: 1CB045F5BBFE9D20	FASTA	1,257	138,177
	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 AAEEAFEVKD VLNSTLDSEA LKHTLCRQAK NQGSLDAWLK VTGATSESGA FHPINHL
	Isoform 3 [UniParc]. Checksum: A5A073C5C5F26306	FASTA	1,276	140,263
	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 QVIYYKVIKD IEPGEELLVH VKEGVYPLGT VPPGLDEEPT FRCDECDELF 250 260 270 280 290 300 QSKLDLRRHK KYTCGSVGAA LYEGLAEELK PEGLGGGSGQ AHECKDCERM FPNKYSLEQH 310 320 330 340 350 360 MVIHTEEREY KCDQCPKAFN WKSNLIRHQM SHDSGKRFEC ENCVKVFTDP SNLQRHIRSQ 370 380 390 400 410 420 HVGARAHACP DCGKTFATSS GLKQHKHIHS TVKPFICEVC HKSYTQFSNL CRHKRMHADC 430 440 450 460 470 480 RTQIKCKDCG QMFSTTSSLN KHRRFCEGKN HYTPGGIFAP GLPLTPSPMM DKAKPSPSLN 490 500 510 520 530 540 HASLGFNEYF PSRPHPGSLP FSTAPPTFPA LTPGFPGIFP PSLYPRPPLL PPTSLLKSPL 550 560 570 580 590 600 NHTQDAKLPS PLGNPALPLV SAVSNSSQGT TAAAGPEEKF ESRLEDSCVE KLKTRSSDMS 610 620 630 640 650 660 DGSDFEDVNT TTGTDLDTTT GTGSDLDSDV DSDPDKDKGK GKSAEGQPKF GGGLAPPGAP 670 680 690 700 710 720 NSVAEVPVFY SQHSFFPPPD EQLLTATGAA GDSIKAIASI AEKYFGPGFM GMQEKKLGSL 730 740 750 760 770 780 PYHSAFPFQF LPNFPHSLYP FTDRALAHNL LVKAEPKSPR DALKVGGPSA ECPFDLTTKP 790 800 810 820 830 840 KDVKPILPMP KGPSAPASGE EQPLDLSIGS RARASQNGGG REPRKNHVYG ERKLGAGEGL 850 860 870 880 890 900 PQVCPARMPQ QPPLHYAKPS PFFMDPIYRV 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
	Isoform 4 (MEL1S) [UniParc]. Checksum: 7A24088D0A73B54F	FASTA	1,092	120,338
	10 20 30 40 50 60 MCQISEQIYY KVIKDIEPGE ELLVHVKEGV YPLGTVPPGL DEEPTFRCDE CDELFQSKLD 70 80 90 100 110 120 LRRHKKYTCG SVGAALYEGL AEELKPEGLG GGSGQAHECK DCERMFPNKY SLEQHMVIHT 130 140 150 160 170 180 EEREYKCDQC PKAFNWKSNL IRHQMSHDSG KRFECENCVK VFTDPSNLQR HIRSQHVGAR 190 200 210 220 230 240 AHACPDCGKT FATSSGLKQH KHIHSTVKPF ICEVCHKSYT QFSNLCRHKR MHADCRTQIK 250 260 270 280 290 300 CKDCGQMFST TSSLNKHRRF CEGKNHYTPG GIFAPGLPLT PSPMMDKAKP SPSLNHASLG 310 320 330 340 350 360 FNEYFPSRPH PGSLPFSTAP PTFPALTPGF PGIFPPSLYP RPPLLPPTSL LKSPLNHTQD 370 380 390 400 410 420 AKLPSPLGNP ALPLVSAVSN SSQGTTAAAG PEEKFESRLE DSCVEKLKTR SSDMSDGSDF 430 440 450 460 470 480 EDVNTTTGTD LDTTTGTGSD LDSDVDSDPD KDKGKGKSAE GQPKFGGGLA PPGAPNSVAE 490 500 510 520 530 540 VPVFYSQHSF FPPPDEQLLT ATGAAGDSIK AIASIAEKYF GPGFMGMQEK KLGSLPYHSA 550 560 570 580 590 600 FPFQFLPNFP HSLYPFTDRA LAHNLLVKAE PKSPRDALKV GGPSAECPFD LTTKPKDVKP 610 620 630 640 650 660 ILPMPKGPSA PASGEEQPLD LSIGSRARAS QNGGGREPRK NHVYGERKLG AGEGLPQVCP 670 680 690 700 710 720 ARMPQQPPLH YAKPSPFFMD PIYSRVEKRK VTDPVGALKE KYLRPSPLLF HPQMSAIETM 730 740 750 760 770 780 TEKLESFAAM KADSGSSLQP LPHHPFNFRS PPPTLSDPIL RKGKERYTCR YCGKIFPRSA 790 800 810 820 830 840 NLTRHLRTHT GEQPYRCKYC DRSFSISSNL QRHVRNIHNK EKPFKCHLCN RCFGQQTNLD 850 860 870 880 890 900 RHLKKHEHEN APVSQHPGVL TNHLGTSASS PTSESDNHAL LDEKEDSYFS EIRNFIANSE 910 920 930 940 950 960 MNQASTRTEK RADMQIVDGS AQCPGLASEK QEDVEEEDDD DLEEDDEDSL AGKSQDDTVS 970 980 990 1000 1010 1020 PAPEPQAAYE DEEDEEPAAS LAVGFDHTRR CAEDHEGGLL ALEPMPTFGK GLDLRRAAEE 1030 1040 1050 1060 1070 1080 AFEVKDVLNS TLDSEALKHT LCRQAKNQAY AMMLSLSEDT PLHTPSQGSL DAWLKVTGAT 1090 SESGAFHPIN HL

References

	« Hide 'large scale' referencesShow '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. , 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.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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 , 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.
IPI	IPI00289654. IPI00642532. IPI00914925. IPI00963982.
RefSeq	NP_071397.3. NM_022114.3. NP_955533.2. NM_199454.2.
UniGene	Hs.99500.
3D structure databases
ProteinModelPortal	Q9HAZ2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HAZ2. 2 interactions.
STRING	9606.ENSP00000367651.
PTM databases
PhosphoSite	Q9HAZ2.
Polymorphism databases
DMDM	259016328.
Proteomic databases
PaxDb	Q9HAZ2.
PRIDE	Q9HAZ2.
Protocols and materials databases
DNASU	63976.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000270722; ENSP00000270722; ENSG00000142611. ENST00000378391; ENSP00000367643; ENSG00000142611. ENST00000378398; ENSP00000367651; ENSG00000142611. ENST00000512462; ENSP00000422504; ENSG00000142611.
GeneID	63976.
KEGG	hsa:63976.
UCSC	uc001ake.3. human. uc001akf.3. human.
Organism-specific databases
CTD	63976.
GeneCards	GC01P003008.
HGNC	HGNC:14000. PRDM16.
MIM	605557. gene.
neXtProt	NX_Q9HAZ2.
PharmGKB	PA33714.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOVERGEN	HBG005619.
OMA	FNEYFPS.
Gene expression databases
ArrayExpress	Q9HAZ2.
Bgee	Q9HAZ2.
CleanEx	HS_PRDM16.
Genevestigator	Q9HAZ2.
GermOnline	ENSG00000142611. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 8 hits.
InterPro	IPR001214. SET_dom. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF00096. zf-C2H2. 4 hits. [Graphical view]
SMART	SM00317. SET. 1 hit. SM00355. ZnF_C2H2. 10 hits. [Graphical view]
PROSITE	PS50280. SET. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 8 hits. PS50157. ZINC_FINGER_C2H2_2. 10 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	63976.
NextBio	65776.
SOURCE	Search...

Entry information

Entry name

PRD16_HUMAN

Accession

Primary (citable) accession number: Q9HAZ2
Secondary accession number(s): A6NHQ8 , B1AJP7, B1AJP8, B1AJP9, B1WB48, Q8WYJ9, Q9C0I8

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	September 22, 2009
Last modified:	May 1, 2013
This is version 117 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.