Reviewed, UniProtKB/Swiss-Prot Q9HAZ2 (PRD16_HUMAN)

Names and origin

Protein names

Recommended name:
    PR domain zinc finger protein 16
Alternative name(s):
    PR domain-containing protein 16
    Transcription factor MEL1

Gene names

Name:	PRDM16
Synonyms:	KIAA1675, MEL1, PFM13

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1276 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	May be involved in transcriptional regulation.
Subcellular location	Nucleus Potential.
Sequence similarities	Contains 10 C2H2-type zinc fingers. Contains 1 SET domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Gene Ontology (GO)
Biological process	regulation of transcription, DNA-dependent Ref.1 Inferred by curator. Source: UniProtKB transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Ref.1 Inferred by curator. Source: UniProtKB
Molecular function	transcription factor activity Ref.1 Non-traceable author statement. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by 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)

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:
     868-868: Missing.

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
Natural variations
	Alternative sequence	868	1	Missing in isoform 3.		VSP_024239
	Alternative sequence	1233 – 1251	19	Missing in isoform 2.		VSP_006932
	Natural variant	533	1	P → S: dbSNP rs870124. Ref.2 Ref.5		VAR_031433
	Natural variant	633	1	P → L: dbSNP rs2493292.		VAR_031434
Experimental info
	Sequence conflict	50 – 52	3	PPS → SPP in AAG33382. Ref.2
	Sequence conflict	191	1	Q → QV in AAG33382. Ref.2
	Sequence conflict	191	1	Q → QV in CAH71134. Ref.5
	Sequence conflict	191	1	Q → QV in CAH71530. Ref.5
	Sequence conflict	191	1	Q → QV in CAI19629. Ref.5
	Sequence conflict	191	1	Q → QV in CAI22790. Ref.5
	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 October 25, 2002. Version 2. Checksum: 307539CF63DAA918	FASTA	1,276	140,261
	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 PTPLLKSPLN 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. Checksum: 57102D0CCBAC6F3E	FASTA	1,257	138,187
	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 PTPLLKSPLN 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. Checksum: BD5FDBC6FE8DDF3C	FASTA	1,275	140,174
	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 PTPLLKSPLN 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 FFMDPIYRVE KRKVTDPVGA LKEKYLRPSP LLFHPQMSAI 910 920 930 940 950 960 ETMTEKLESF AAMKADSGSS LQPLPHHPFN FRSPPPTLSD PILRKGKERY TCRYCGKIFP 970 980 990 1000 1010 1020 RSANLTRHLR THTGEQPYRC KYCDRSFSIS SNLQRHVRNI HNKEKPFKCH LCNRCFGQQT 1030 1040 1050 1060 1070 1080 NLDRHLKKHE HENAPVSQHP GVLTNHLGTS ASSPTSESDN HALLDEKEDS YFSEIRNFIA 1090 1100 1110 1120 1130 1140 NSEMNQASTR TEKRADMQIV DGSAQCPGLA SEKQEDVEEE DDDDLEEDDE DSLAGKSQDD 1150 1160 1170 1180 1190 1200 TVSPAPEPQA AYEDEEDEEP AASLAVGFDH TRRCAEDHEG GLLALEPMPT FGKGLDLRRA 1210 1220 1230 1240 1250 1260 AEEAFEVKDV LNSTLDSEAL KHTLCRQAKN QAYAMMLSLS EDTPLHTPSQ GSLDAWLKVT 1270 GATSESGAFH PINHL

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: 11050005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[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), VARIANT SER-533.
[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: 11214970] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). 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: 12168954] [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: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-533.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB078876 mRNA. Translation: BAB84297.1. AF294278 mRNA. Translation: AAG33382.1. AB051462 mRNA. Translation: BAB21766.2. Different initiation. AL512383 , AL008733, AL354743, AL590438 Genomic DNA. Translation: CAH71134.1. AL590438 , AL008733, AL354743, AL512383 Genomic DNA. Translation: CAH71530.1. AL008733 , AL354743, AL512383, AL590438 Genomic DNA. Translation: CAI19629.1. AL354743 , AL008733, AL512383, AL590438 Genomic DNA. Translation: CAI22790.1. BC161614 mRNA. Translation: AAI61614.1.
IPI	IPI00289654. IPI00642532. IPI00914925.
RefSeq	NP_071397.2. NP_955533.1.
UniGene	Hs.99500
3D structure databases
HSSP	HSSP built from PDB template 1SP2 based on UniProtKB P08047.
ModBase	Search...
Proteomic databases
PRIDE	Q9HAZ2.
Genome annotation databases
Ensembl	ENSG00000142611. Homo sapiens. [Contig view]
GeneID	63976.
KEGG	hsa:63976.
Organism-specific databases
GeneCards	GC01P003008.
HGNC	HGNC:14000. PRDM16.
MIM	605557. gene.
PharmGKB	PA33714.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9HAZ2.
Gene expression databases
ArrayExpress	Q9HAZ2.
Bgee	Q9HAZ2.
CleanEx	HS_PRDM16.
GermOnline	ENSG00000142611. Homo sapiens.
Family and domain databases
InterPro	IPR001214. SET. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 4 hits.
Pfam	PF00096. zf-C2H2. 10 hits. [Graphical view]
ProDom	PD000003. Znf_C2H2. 4 hits. [Graphical view] [Entries sharing at least one domain]
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 Resources
NextBio	65776.
SOURCE	Search...

Entry information

Entry name

PRD16_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	October 25, 2002
Last modified:	June 16, 2009
This is version 75 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)