Reviewed, UniProtKB/Swiss-Prot Q9NQW5 (PRDM7_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable histone-lysine N-methyltransferase PRDM7
    EC=2.1.1.43
Alternative name(s):
    PR domain zinc finger protein 7
    PR domain-containing protein 7

Gene names

Name:	PRDM7
Synonyms:	PFM4

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	492 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Probable histone methyltransferase By similarity.
Catalytic activity	S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
Subcellular location	Nucleus Potential.
Miscellaneous	The mouse orthologous protein seems not to exist. According to Ref.1, human PRDM7 and PRDM9 genes, a pair of close paralogs corresponding to a single mouse gene Prdm9, were generated by a recent gene duplication event after the divergence of the ancestors of human and mouse.
Sequence similarities	Contains 1 KRAB-related domain. Contains 1 SET domain.

Ontologies

Keywords
Cellular component	Chromosomal protein Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	S-adenosyl-L-methionine
Molecular function	Chromatin regulator Methyltransferase Transferase
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	chromosome Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	nucleic acid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NQW5-3)

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: Q9NQW5-2)

Also known as: B;

The sequence of this isoform differs from the canonical sequence as follows:
     1-206: Missing.
     318-377: YVNCARDDEE...RSSIEPAESL → TKARDPSMSL...RGSESGAAIF
     378-492: Missing.

Isoform 3 (identifier: Q9NQW5-1)

Also known as: A;

The sequence of this isoform differs from the canonical sequence as follows:
     1-206: Missing.
     368-492: RSSIEPAESL...VKRSKKGPNS → KWGSKWKKEL...GEAPVCRKDE

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 492	492	Probable histone-lysine N-methyltransferase PRDM7		PRO_0000047763
Regions
	Domain	23 – 86	64	KRAB-related
	Domain	246 – 362	117	SET
Natural variations
	Alternative sequence	1 – 206	206	Missing in isoform 2 and isoform 3.		VSP_036349
	Alternative sequence	318 – 377	60	YVNCA…PAESL → TKARDPSMSLMLSGLFKSKI SQSTCGTQSLLSELPRTICK KTSPTRESLPRGSESGAAIF in isoform 2.		VSP_006930
	Alternative sequence	368 – 492	125	RSSIE…KGPNS → KWGSKWKKELMAGREPKPEI HPCPSCCLAFSSQKFLSQHV ERNHSSQNFPGPSARKLLQP ENPCPGDQNQERQYSDPRCC NDKTKGQEIKERSKLLNKRT WQREISRAFSSPPKGQMGSS RVGERMMEEESRTGQKVNPG NTGKLFVGVGISRIAKVKYG ECGQGFSDKSDVITHQRTHT GGKPYVCRECGEGFSRKSDL LSHQRTHTGEKPYVCRECER GFSRKSVLLIHQRTHRGEAP VCRKDE in isoform 3.		VSP_036350
	Alternative sequence	378 – 492	115	Missing in isoform 2.		VSP_006931
	Natural variant	90	1	D → E: dbSNP rs12925933. Ref.1		VAR_057461
	Natural variant	131	1	R → K: dbSNP rs2078478.		VAR_057462
	Natural variant	435	1	N → K: dbSNP rs7206111.		VAR_057463
Experimental info
	Sequence conflict	357	1	S → Y in AAF78084. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 10, 2009. Version 2. Checksum: 0C80D8DE8BA65DC5	FASTA	492	55,777
	10 20 30 40 50 60 MSPERSQEES PEGDTERTER KPMVKDAFKD ISIYFTKEEW AEMGDWEKTR YRNVKMNYNA 70 80 90 100 110 120 LITVGLRATR PAFMCHRRQA IKLQVDDTED SDEEWTPRQQ VKPPWMAFRG EQSKHQKGMP 130 140 150 160 170 180 KASFNNESSL RELSGTPNLL NTSDSEQAQK PVSPPGEAST SGQHSRLKLE LRRKETEGKM 190 200 210 220 230 240 YSLRERKGHA YKEISEPQDD DYLYCEMCQN FFIDSCAAHG PPTFVKDSAV DKGHPNRSAL 250 260 270 280 290 300 SLPPGLRIGP SGIPQAGLGV WNEASDLPLG LHFGPYEGRI TEDEEAANSG YSWLITKGRN 310 320 330 340 350 360 CYEYVDGKDK SSANWMRYVN CARDDEEQNL VAFQYHRQIF YRTCRVIRPG CELLVWSGDE 370 380 390 400 410 420 YGQELGIRSS IEPAESLGQA VNCWSGMGMS MARNWASSGA ASGRKSSWQG ENQSQRSIHV 430 440 450 460 470 480 PHAVWPFQVK NFSVNMWNAI TPLRTSQDHL QENFSNQRIP AQGIRIRSGN ILIHAAVMTK 490 PKVKRSKKGP NS
	Isoform 2 (B). Checksum: F4F63783520C0072	FASTA	171	18,442
	10 20 30 40 50 60 MCQNFFIDSC AAHGPPTFVK DSAVDKGHPN RSALSLPPGL RIGPSGIPQA GLGVWNEASD 70 80 90 100 110 120 LPLGLHFGPY EGRITEDEEA ANSGYSWLIT KGRNCYEYVD GKDKSSANWM RTKARDPSMS 130 140 150 160 170 LMLSGLFKSK ISQSTCGTQS LLSELPRTIC KKTSPTRESL PRGSESGAAI F
	Isoform 3 (A). Checksum: D09E7D983CFA4426	FASTA	407	45,890
	10 20 30 40 50 60 MCQNFFIDSC AAHGPPTFVK DSAVDKGHPN RSALSLPPGL RIGPSGIPQA GLGVWNEASD 70 80 90 100 110 120 LPLGLHFGPY EGRITEDEEA ANSGYSWLIT KGRNCYEYVD GKDKSSANWM RYVNCARDDE 130 140 150 160 170 180 EQNLVAFQYH RQIFYRTCRV IRPGCELLVW SGDEYGQELG IKWGSKWKKE LMAGREPKPE 190 200 210 220 230 240 IHPCPSCCLA FSSQKFLSQH VERNHSSQNF PGPSARKLLQ PENPCPGDQN QERQYSDPRC 250 260 270 280 290 300 CNDKTKGQEI KERSKLLNKR TWQREISRAF SSPPKGQMGS SRVGERMMEE ESRTGQKVNP 310 320 330 340 350 360 GNTGKLFVGV GISRIAKVKY GECGQGFSDK SDVITHQRTH TGGKPYVCRE CGEGFSRKSD 370 380 390 400 LLSHQRTHTG EKPYVCRECE RGFSRKSVLL IHQRTHRGEA PVCRKDE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Family expansion and gene rearrangements contributed to the functional specialization of PRDM genes in vertebrates." Fumasoni I., Meani N., Rambaldi D., Scafetta G., Alcalay M., Ciccarelli F.D. BMC Evol. Biol. 7:187-187(2007) [PubMed: 17916234] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLU-90.
[2]	"The yin-yang of PR-domain family genes in tumorigenesis." Jiang G.L., Huang S. Histol. Histopathol. 15:109-117(2000) [PubMed: 10668202] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3).
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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 2).
[5]	"An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed: 14759258] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AM690991 mRNA. Translation: CAM84449.1. AF274347 mRNA. Translation: AAF78084.1. AF274348 mRNA. Translation: AAF78085.1. CH471184 Genomic DNA. Translation: EAW66654.1. BC107033 mRNA. Translation: AAI07034.1.
IPI	IPI00015996. IPI00220812. IPI00845274.
RefSeq	NP_001091643.1. NP_443722.2.
UniGene	Hs.406695
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NQW5.
Genome annotation databases
Ensembl	ENST00000449207; ENSP00000396732; ENSG00000126856; Homo sapiens. [Genome view]
GeneID	11105.
KEGG	hsa:11105.
UCSC	uc002fqo.1. human.
Organism-specific databases
CTD	11105.
GeneCards	GC16M088650.
HGNC	HGNC:9351. PRDM7.
MIM	609759. gene.
PharmGKB	PA33719.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17720.
OrthoDB	EOG9XKXVN.
Gene expression databases
ArrayExpress	Q9NQW5.
Bgee	Q9NQW5.
CleanEx	HS_PRDM7.
Genevestigator	Q9NQW5.
GermOnline	ENSG00000164256. Homo sapiens.
Family and domain databases
InterPro	IPR001909. Krueppel-associated_box. IPR003655. Krueppel-associated_box-rel. IPR001214. SET_dom. IPR019041. SSXRD_motif. [Graphical view]
Pfam	PF01352. KRAB. 1 hit. PF09514. SSXRD. 1 hit. [Graphical view]
SMART	SM00349. KRAB. 1 hit. SM00317. SET. 1 hit. [Graphical view]
PROSITE	PS50806. KRAB_RELATED. 1 hit. PS50280. SET. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	42224.
SOURCE	Search...

Entry information

Entry name

PRDM7_HUMAN

Accession

Primary (citable) accession number: Q9NQW5
Secondary accession number(s): A4Q9G8, Q08EM4, Q9NQW4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	February 10, 2009
Last modified:	February 9, 2010
This is version 77 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.