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P15622 (ZN250_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 144. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein 250
Alternative name(s):
Zinc finger protein 647
Gene names
Name:ZNF250
Synonyms:ZNF647
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length560 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 560560Zinc finger protein 250
PRO_0000047483

Regions

Domain22 – 9372KRAB
Zinc finger199 – 22123C2H2-type 1
Zinc finger227 – 24923C2H2-type 2
Zinc finger255 – 27723C2H2-type 3
Zinc finger283 – 30523C2H2-type 4
Zinc finger311 – 33323C2H2-type 5
Zinc finger339 – 36123C2H2-type 6
Zinc finger367 – 38923C2H2-type 7
Zinc finger395 – 41723C2H2-type 8
Zinc finger423 – 44523C2H2-type 9
Zinc finger451 – 47323C2H2-type 10
Zinc finger479 – 50123C2H2-type 11
Zinc finger507 – 52923C2H2-type 12
Zinc finger535 – 55723C2H2-type 13

Natural variations

Alternative sequence15 – 195Missing in isoform 2 and isoform 3.
VSP_011039
Alternative sequence366 – 477112Missing in isoform 2.
VSP_011040

Experimental info

Sequence conflict515 – 5217AFSQYSV → PSASTQL Ref.6
Sequence conflict5421R → G Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 19, 2004. Version 3.
Checksum: 800170E1875D988C

FASTA56063,468
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 5C51169876D5BBF5
Show »

FASTA44350,022
Isoform 3 [UniParc].

Checksum: 28038298ED50A5B1
Show »

FASTA55562,895

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
PIRS06781.
RefSeqNP_001103159.1. NM_001109689.3.
NP_066405.1. NM_021061.4.
XP_005272384.1. XM_005272327.1.
XP_005272385.1. XM_005272328.1.
UniGeneHs.532277.

3D structure databases

ProteinModelPortalP15622.
SMRP15622. Positions 15-70, 171-559.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121830. 16 interactions.
IntActP15622. 16 interactions.
MINTMINT-1438501.
STRING9606.ENSP00000292579.

PTM databases

PhosphoSiteP15622.

Polymorphism databases

DMDM50403721.

2D gel databases

REPRODUCTION-2DPAGEP15622.

Proteomic databases

PaxDbP15622.
PRIDEP15622.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000292579; ENSP00000292579; ENSG00000196150. [P15622-1]
ENST00000417550; ENSP00000393442; ENSG00000196150. [P15622-3]
GeneID58500.
KEGGhsa:58500.
UCSCuc003zeq.4. human. [P15622-1]
uc003zer.4. human.

Organism-specific databases

CTD58500.
GeneCardsGC08M146078.
HGNCHGNC:13044. ZNF250.
HPAHPA020853.
neXtProtNX_P15622.
PharmGKBPA37622.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000234617.
HOVERGENHBG018163.
InParanoidP15622.
KOK09228.
OMANVMMETY.
OrthoDBEOG7KSX7Q.
PhylomeDBP15622.
TreeFamTF341817.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.

Gene expression databases

ArrayExpressP15622.
BgeeP15622.
CleanExHS_ZNF250.
GenevestigatorP15622.

Family and domain databases

Gene3D3.30.160.60. 13 hits.
InterProIPR001909. Krueppel-associated_box.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF01352. KRAB. 1 hit.
[Graphical view]
SMARTSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 13 hits.
[Graphical view]
SUPFAMSSF109640. SSF109640. 1 hit.
PROSITEPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 13 hits.
PS50157. ZINC_FINGER_C2H2_2. 13 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi58500.
NextBio65004.
PROP15622.

Entry information

Entry nameZN250_HUMAN
AccessionPrimary (citable) accession number: P15622
Secondary accession number(s): D3DWP1 expand/collapse secondary AC list , Q59HE9, Q8N942, Q96AH9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: July 19, 2004
Last modified: April 16, 2014
This is version 144 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM