Q9NU63 (ZFP57_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 57 homolog
Short name=Zfp-57

Alternative name(s):
Zinc finger protein 698

Gene names

Name:	ZFP57
Synonyms:	C6orf40, ZNF698

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	452 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions. Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Ref.3
Subcellular location	Nucleus By similarity. Note: Binds various differentially methylated regions (DMR), including the SNRPN DMR By similarity.
Domain	The KRAB domain is required for function as transcriptional repressor By similarity.
Involvement in disease	Transient neonatal diabetes mellitus 1 (TNDM1) [MIM:601410]: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. ZFP57 subfamily. Contains 7 C2H2-type zinc fingers. Contains 1 KRAB domain.
Sequence caution	The sequence CAQ10094.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Diabetes mellitus Disease mutation
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Developmental protein Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA methylation involved in embryo development Inferred from mutant phenotype Ref.3. Source: UniProtKB negative regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara peripheral nervous system development Inferred from electronic annotation. Source: Compara regulation of gene expression by genetic imprinting Inferred from mutant phenotype Ref.3. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nuclear heterochromatin Inferred from electronic annotation. Source: Compara
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW zinc ion 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: Q9NU63-1)

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: Q9NU63-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAAGEPRSLLFFQ → MFEQLKPIEPRDCWREARVKK
     78-78: E → EFVHLPNTEGLSEGKKKELREQHPSLRDEGTSDDKVFLACRGAGQCPLSAPAGTMDR

Isoform 3 (identifier: Q9NU63-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAAGEPRSLLFFQ → MFEQLKPIEPVQKTLPWVGEVAATLQEAMKRDCWREARVKK
     78-78: E → EFVHLPNTEGLSEGKKKELREQHPSLRDEGTSDDKVFLACRGAGQCPLSAPAGTMDR

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 452	452	Zinc finger protein 57 homolog		PRO_0000291964
Regions
	Domain	16 – 88	73	KRAB
	Zinc finger	91 – 113	23	C2H2-type 1
	Zinc finger	119 – 141	23	C2H2-type 2
	Zinc finger	147 – 169	23	C2H2-type 3
	Zinc finger	175 – 197	23	C2H2-type 4
	Zinc finger	300 – 322	23	C2H2-type 5
	Zinc finger	328 – 350	23	C2H2-type 6
	Zinc finger	356 – 378	23	C2H2-type 7; degenerate
Natural variations
	Alternative sequence	1 – 13	13	MAAGE…LLFFQ → MFEQLKPIEPRDCWREARVK K in isoform 2.		VSP_026329
	Alternative sequence	1 – 13	13	MAAGE…LLFFQ → MFEQLKPIEPVQKTLPWVGE VAATLQEAMKRDCWREARVK K in isoform 3.		VSP_036659
	Alternative sequence	78	1	E → EFVHLPNTEGLSEGKKKELR EQHPSLRDEGTSDDKVFLAC RGAGQCPLSAPAGTMDR in isoform 2 and isoform 3.		VSP_026330
	Natural variant	114	1	N → S. Corresponds to variant rs9461544 [ dbSNP | Ensembl ].		VAR_032902
	Natural variant	166	1	R → H in TNDM1. Ref.3		VAR_054771
	Natural variant	193	1	H → N in TNDM1. Ref.3		VAR_054772
	Natural variant	284	1	D → V. Ref.1 Corresponds to variant rs2535241 [ dbSNP | Ensembl ].		VAR_032903
	Natural variant	374	1	H → D in TNDM1. Ref.3		VAR_054773
Experimental info
	Sequence conflict	151	1	L → F in AAI57879. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 26, 2007. Version 2. Checksum: 6B285B7FB9ABB3BA	FASTA	452	51,919
	10 20 30 40 50 60 MAAGEPRSLL FFQKPVTFED VAVNFTQEEW DCLDASQRVL YQDVMSETFK NLTSVARIFL 70 80 90 100 110 120 HKPELITKLE QEEEQWRETR VLQASQAGPP FFCYTCGKCF SRRSYLYSHQ FVHNPKLTNS 130 140 150 160 170 180 CSQCGKLFRS PKSLSYHRRM HLGERPFCCT LCDKTYCDAS GLSRHRRVHL GYRPHSCSVC 190 200 210 220 230 240 GKSFRDQSEL KRHQKIHQNQ EPVDGNQECT LRIPGTQAEF QTPIARSQRS IQGLLDVNHA 250 260 270 280 290 300 PVARSQEPIF RTEGPMAQNQ ASVLKNQAPV TRTQAPITGT LCQDARSNSH PVKPSRLNVF 310 320 330 340 350 360 CCPHCSLTFS KKSYLSRHQK AHLTEPPNYC FHCSKSFSSF SRLVRHQQTH WKQKSYLCPI 370 380 390 400 410 420 CDLSFGEKEG LMDHWRGYKG KDLCQSSHHK CRVILGQWLG FSHDVPTMAG EEWKHGGDQS 430 440 450 PPRIHTPRRR GLREKACKGD KTKEAVSILK HK
	Isoform 2 [UniParc]. Checksum: C38B9572533B81AE	FASTA	516	59,176
	10 20 30 40 50 60 MFEQLKPIEP RDCWREARVK KKPVTFEDVA VNFTQEEWDC LDASQRVLYQ DVMSETFKNL 70 80 90 100 110 120 TSVARIFLHK PELITKLEQE EEQWREFVHL PNTEGLSEGK KKELREQHPS LRDEGTSDDK 130 140 150 160 170 180 VFLACRGAGQ CPLSAPAGTM DRTRVLQASQ AGPPFFCYTC GKCFSRRSYL YSHQFVHNPK 190 200 210 220 230 240 LTNSCSQCGK LFRSPKSLSY HRRMHLGERP FCCTLCDKTY CDASGLSRHR RVHLGYRPHS 250 260 270 280 290 300 CSVCGKSFRD QSELKRHQKI HQNQEPVDGN QECTLRIPGT QAEFQTPIAR SQRSIQGLLD 310 320 330 340 350 360 VNHAPVARSQ EPIFRTEGPM AQNQASVLKN QAPVTRTQAP ITGTLCQDAR SNSHPVKPSR 370 380 390 400 410 420 LNVFCCPHCS LTFSKKSYLS RHQKAHLTEP PNYCFHCSKS FSSFSRLVRH QQTHWKQKSY 430 440 450 460 470 480 LCPICDLSFG EKEGLMDHWR GYKGKDLCQS SHHKCRVILG QWLGFSHDVP TMAGEEWKHG 490 500 510 GDQSPPRIHT PRRRGLREKA CKGDKTKEAV SILKHK
	Isoform 3 [UniParc]. Checksum: 0DB8D7F9FCCF4D67	FASTA	536	61,358
	10 20 30 40 50 60 MFEQLKPIEP VQKTLPWVGE VAATLQEAMK RDCWREARVK KKPVTFEDVA VNFTQEEWDC 70 80 90 100 110 120 LDASQRVLYQ DVMSETFKNL TSVARIFLHK PELITKLEQE EEQWREFVHL PNTEGLSEGK 130 140 150 160 170 180 KKELREQHPS LRDEGTSDDK VFLACRGAGQ CPLSAPAGTM DRTRVLQASQ AGPPFFCYTC 190 200 210 220 230 240 GKCFSRRSYL YSHQFVHNPK LTNSCSQCGK LFRSPKSLSY HRRMHLGERP FCCTLCDKTY 250 260 270 280 290 300 CDASGLSRHR RVHLGYRPHS CSVCGKSFRD QSELKRHQKI HQNQEPVDGN QECTLRIPGT 310 320 330 340 350 360 QAEFQTPIAR SQRSIQGLLD VNHAPVARSQ EPIFRTEGPM AQNQASVLKN QAPVTRTQAP 370 380 390 400 410 420 ITGTLCQDAR SNSHPVKPSR LNVFCCPHCS LTFSKKSYLS RHQKAHLTEP PNYCFHCSKS 430 440 450 460 470 480 FSSFSRLVRH QQTHWKQKSY LCPICDLSFG EKEGLMDHWR GYKGKDLCQS SHHKCRVILG 490 500 510 520 530 QWLGFSHDVP TMAGEEWKHG GDQSPPRIHT PRRRGLREKA CKGDKTKEAV SILKHK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-284.
[2]	"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 3).
[3]	"Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57." Mackay D.J.G., Callaway J.L.A., Marks S.M., White H.E., Acerini C.L., Boonen S.E., Dayanikli P., Firth H.V., Goodship J.A., Haemers A.P., Hahnemann J.M.D., Kordonouri O., Masoud A.F., Oestergaard E., Storr J., Ellard S., Hattersley A.T., Robinson D.O., Temple I.K. Nat. Genet. 40:949-951(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS TNDM1 HIS-166; ASN-193 AND ASP-374, FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL050328 Genomic DNA. Translation: CAB89275.2. AL669813 Genomic DNA. Translation: CAI17624.2. AL645936 Genomic DNA. Translation: CAI18028.2. AL929591 Genomic DNA. Translation: CAI41919.2. BX927250 Genomic DNA. Translation: CAQ10717.1. BX120002 Genomic DNA. Translation: CAI95569.2. CR759766 Genomic DNA. Translation: CAQ06621.1. CR388408 Genomic DNA. Translation: CAQ08216.1. CR936483 Genomic DNA. Translation: CAQ10094.1. Sequence problems. BC157878 mRNA. Translation: AAI57879.1.
IPI	IPI00642672. IPI00646777. IPI00923474.
RefSeq	NP_001103279.2. NM_001109809.2.
UniGene	Hs.156326.
3D structure databases
ProteinModelPortal	Q9NU63.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000412932.
PTM databases
PhosphoSite	Q9NU63.
Polymorphism databases
DMDM	150416327.
Proteomic databases
PaxDb	Q9NU63.
PRIDE	Q9NU63.
Protocols and materials databases
DNASU	346171.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000376881; ENSP00000366078; ENSG00000204644. ENST00000376883; ENSP00000366080; ENSG00000204644. ENST00000383628; ENSP00000373124; ENSG00000206510. ENST00000416974; ENSP00000396462; ENSG00000223858. ENST00000435906; ENSP00000412932; ENSG00000226858. ENST00000437216; ENSP00000398086; ENSG00000223852. ENST00000446005; ENSP00000394222; ENSG00000234669. ENST00000448114; ENSP00000409118; ENSG00000232099. ENST00000488757; ENSP00000418259; ENSG00000204644. ENST00000547542; ENSP00000447492; ENSG00000223852. ENST00000548001; ENSP00000446541; ENSG00000232099. ENST00000548337; ENSP00000449407; ENSG00000232099. ENST00000548574; ENSP00000446798; ENSG00000223852. ENST00000548769; ENSP00000448351; ENSG00000206510. ENST00000549167; ENSP00000449230; ENSG00000226858. ENST00000549312; ENSP00000448279; ENSG00000234669. ENST00000549501; ENSP00000447698; ENSG00000226858. ENST00000552809; ENSP00000450279; ENSG00000223858. ENST00000552898; ENSP00000450397; ENSG00000223858. ENST00000552987; ENSP00000448634; ENSG00000206510. ENST00000553137; ENSP00000447495; ENSG00000234669.
GeneID	346171.
KEGG	hsa:346171.
UCSC	uc011dlw.2. human.
Organism-specific databases
CTD	346171.
GeneCards	GC06M029640.
HGNC	HGNC:18791. ZFP57.
HPA	HPA047172.
MIM	601410. phenotype. 612192. gene.
neXtProt	NX_Q9NU63.
Orphanet	99886. Transient neonatal diabetes mellitus.
PharmGKB	PA134937821.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG267305.
HOGENOM	HOG000155778.
HOVERGEN	HBG108764.
KO	K09228.
OMA	SNSHPVK.
Gene expression databases
ArrayExpress	Q9NU63.
Bgee	Q9NU63.
CleanEx	HS_ZFP57.
Genevestigator	Q9NU63.
Family and domain databases
Gene3D	3.30.160.60. 6 hits.
InterPro	IPR001909. Krueppel-associated_box. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF01352. KRAB. 1 hit. PF00096. zf-C2H2. 2 hits. [Graphical view]
SMART	SM00349. KRAB. 1 hit. SM00355. ZnF_C2H2. 7 hits. [Graphical view]
SUPFAM	SSF109640. Krueppel-associated_box. 1 hit.
PROSITE	PS50805. KRAB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 6 hits. PS50157. ZINC_FINGER_C2H2_2. 7 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	346171.
NextBio	98937.
SOURCE	Search...

Entry information

Entry name

ZFP57_HUMAN

Accession

Primary (citable) accession number: Q9NU63
Secondary accession number(s): B0S894 , B0V254, B2RXJ7, Q5SSB1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	June 26, 2007
Last modified:	May 1, 2013
This is version 94 of the entry and version 2 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.