P15622 (ZN250_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 250

Alternative name(s):
Zinc finger protein 647

Gene names

Name:	ZNF250
Synonyms:	ZNF647

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	560 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May be involved in transcriptional regulation.
Subcellular location	Nucleus Probable.
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 13 C2H2-type zinc fingers. Contains 1 KRAB domain.
Sequence caution	The sequence BAD92047.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAA34358.1 differs from that shown. Reason: Frameshift at positions 458 and 488.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
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: P15622-1)

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: P15622-2)

The sequence of this isoform differs from the canonical sequence as follows:
     15-19: Missing.
     366-477: Missing.

Isoform 3 (identifier: P15622-3)

The sequence of this isoform differs from the canonical sequence as follows:
     15-19: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 560	560	Zinc finger protein 250		PRO_0000047483
Regions
	Domain	22 – 93	72	KRAB
	Zinc finger	199 – 221	23	C2H2-type 1
	Zinc finger	227 – 249	23	C2H2-type 2
	Zinc finger	255 – 277	23	C2H2-type 3
	Zinc finger	283 – 305	23	C2H2-type 4
	Zinc finger	311 – 333	23	C2H2-type 5
	Zinc finger	339 – 361	23	C2H2-type 6
	Zinc finger	367 – 389	23	C2H2-type 7
	Zinc finger	395 – 417	23	C2H2-type 8
	Zinc finger	423 – 445	23	C2H2-type 9
	Zinc finger	451 – 473	23	C2H2-type 10
	Zinc finger	479 – 501	23	C2H2-type 11
	Zinc finger	507 – 529	23	C2H2-type 12
	Zinc finger	535 – 557	23	C2H2-type 13
Natural variations
	Alternative sequence	15 – 19	5	Missing in isoform 2 and isoform 3.		VSP_011039
	Alternative sequence	366 – 477	112	Missing in isoform 2.		VSP_011040
Experimental info
	Sequence conflict	515 – 521	7	AFSQYSV → PSASTQL Ref.6
	Sequence conflict	542	1	R → G Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 19, 2004. Version 3. Checksum: 800170E1875D988C	FASTA	560	63,468
	10 20 30 40 50 60 MAAARLLPVP AGPQPLSFQA KLTFEDVAVL LSQDEWDRLC PAQRGLYRNV MMETYGNVVS 70 80 90 100 110 120 LGLPGSKPDI ISQLERGEDP WVLDRKGAKK SQGLWSDYSD NLKYDHTTAC TQQDSLSCPW 130 140 150 160 170 180 ECETKGESQN TDLSPKPLIS EQTVILGKTP LGRIDQENNE TKQSFCLSPN SVDHREVQVL 190 200 210 220 230 240 SQSMPLTPHQ AVPSGERPYM CVECGKCFGR SSHLLQHQRI HTGEKPYVCS VCGKAFSQSS 250 260 270 280 290 300 VLSKHRRIHT GEKPYECNEC GKAFRVSSDL AQHHKIHTGE KPHECLECRK AFTQLSHLIQ 310 320 330 340 350 360 HQRIHTGERP YVCPLCGKAF NHSTVLRSHQ RVHTGEKPHR CNECGKTFSV KRTLLQHQRI 370 380 390 400 410 420 HTGEKPYTCS ECGKAFSDRS VLIQHHNVHT GEKPYECSEC GKTFSHRSTL MNHERIHTEE 430 440 450 460 470 480 KPYACYECGK AFVQHSHLIQ HQRVHTGEKP YVCGECGHAF SARRSLIQHE RIHTGEKPFQ 490 500 510 520 530 540 CTECGKAFSL KATLIVHLRT HTGEKPYECN SCGKAFSQYS VLIQHQRIHT GEKPYECGEC 550 560 GRAFNQHGHL IQHQKVHRKL
	Isoform 2 [UniParc]. Checksum: 5C51169876D5BBF5	FASTA	443	50,022
	10 20 30 40 50 60 MAAARLLPVP AGPQAKLTFE DVAVLLSQDE WDRLCPAQRG LYRNVMMETY GNVVSLGLPG 70 80 90 100 110 120 SKPDIISQLE RGEDPWVLDR KGAKKSQGLW SDYSDNLKYD HTTACTQQDS LSCPWECETK 130 140 150 160 170 180 GESQNTDLSP KPLISEQTVI LGKTPLGRID QENNETKQSF CLSPNSVDHR EVQVLSQSMP 190 200 210 220 230 240 LTPHQAVPSG ERPYMCVECG KCFGRSSHLL QHQRIHTGEK PYVCSVCGKA FSQSSVLSKH 250 260 270 280 290 300 RRIHTGEKPY ECNECGKAFR VSSDLAQHHK IHTGEKPHEC LECRKAFTQL SHLIQHQRIH 310 320 330 340 350 360 TGERPYVCPL CGKAFNHSTV LRSHQRVHTG EKPHRCNECG KTFSVKRTLL QHQRIHTGEK 370 380 390 400 410 420 PFQCTECGKA FSLKATLIVH LRTHTGEKPY ECNSCGKAFS QYSVLIQHQR IHTGEKPYEC 430 440 GECGRAFNQH GHLIQHQKVH RKL
	Isoform 3 [UniParc]. Checksum: 28038298ED50A5B1	FASTA	555	62,895
	10 20 30 40 50 60 MAAARLLPVP AGPQAKLTFE DVAVLLSQDE WDRLCPAQRG LYRNVMMETY GNVVSLGLPG 70 80 90 100 110 120 SKPDIISQLE RGEDPWVLDR KGAKKSQGLW SDYSDNLKYD HTTACTQQDS LSCPWECETK 130 140 150 160 170 180 GESQNTDLSP KPLISEQTVI LGKTPLGRID QENNETKQSF CLSPNSVDHR EVQVLSQSMP 190 200 210 220 230 240 LTPHQAVPSG ERPYMCVECG KCFGRSSHLL QHQRIHTGEK PYVCSVCGKA FSQSSVLSKH 250 260 270 280 290 300 RRIHTGEKPY ECNECGKAFR VSSDLAQHHK IHTGEKPHEC LECRKAFTQL SHLIQHQRIH 310 320 330 340 350 360 TGERPYVCPL CGKAFNHSTV LRSHQRVHTG EKPHRCNECG KTFSVKRTLL QHQRIHTGEK 370 380 390 400 410 420 PYTCSECGKA FSDRSVLIQH HNVHTGEKPY ECSECGKTFS HRSTLMNHER IHTEEKPYAC 430 440 450 460 470 480 YECGKAFVQH SHLIQHQRVH TGEKPYVCGE CGHAFSARRS LIQHERIHTG EKPFQCTECG 490 500 510 520 530 540 KAFSLKATLI VHLRTHTGEK PYECNSCGKA FSQYSVLIQH QRIHTGEKPY ECGECGRAFN 550 QHGHLIQHQK VHRKL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[2]	"Homo sapiens protein coding cDNA." Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain.
[3]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton 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].
[5]	"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). Tissue: Colon.
[6]	Ammendola S., Ciliberto G. Submitted (AUG-1989) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 250-560 (ISOFORM 1).

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK095705 mRNA. Translation: BAC04614.1. AB208810 mRNA. Translation: BAD92047.1. Different initiation. AF235103 Genomic DNA. No translation available. CH471162 Genomic DNA. Translation: EAW82029.1. CH471162 Genomic DNA. Translation: EAW82030.1. BC017091 mRNA. Translation: AAH17091.2. X16282 mRNA. Translation: CAA34358.1. Frameshift.
IPI	IPI00384807. IPI00643611. IPI00884447.
PIR	S06781.
RefSeq	NP_001103159.1. NM_001109689.3. NP_066405.1. NM_021061.4.
UniGene	Hs.532277.
3D structure databases
ProteinModelPortal	P15622.
ModBase	Search...
Protein-protein interaction databases
IntAct	P15622. 15 interactions.
STRING	9606.ENSP00000292579.
PTM databases
PhosphoSite	P15622.
Polymorphism databases
DMDM	50403721.
2D gel databases
REPRODUCTION-2DPAGE	P15622.
Proteomic databases
PaxDb	P15622.
PRIDE	P15622.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000292579; ENSP00000292579; ENSG00000196150. ENST00000417550; ENSP00000393442; ENSG00000196150.
GeneID	58500.
KEGG	hsa:58500.
UCSC	uc003zeq.4. human.
Organism-specific databases
CTD	58500.
GeneCards	GC08M146078.
HGNC	HGNC:13044. ZNF250.
HPA	HPA020853.
neXtProt	NX_P15622.
PharmGKB	PA37622.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOGENOM	HOG000234617.
HOVERGEN	HBG018163.
InParanoid	P15622.
KO	K09228.
OMA	QKVHKKL.
Enzyme and pathway databases
Reactome	REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	P15622.
Bgee	P15622.
CleanEx	HS_ZNF250.
Genevestigator	P15622.
GermOnline	ENSG00000196150. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 13 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. [Graphical view]
SMART	SM00349. KRAB. 1 hit. SM00355. ZnF_C2H2. 13 hits. [Graphical view]
SUPFAM	SSF109640. Krueppel-associated_box. 1 hit.
PROSITE	PS50805. KRAB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 13 hits. PS50157. ZINC_FINGER_C2H2_2. 13 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	58500.
NextBio	65004.

Entry information

Entry name

ZN250_HUMAN

Accession

Primary (citable) accession number: P15622
Secondary accession number(s): D3DWP1 , Q59HE9, Q8N942, Q96AH9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	July 19, 2004
Last modified:	May 1, 2013
This is version 135 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.