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Q5VIY5 (ZN468_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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 468
Gene names
Name:ZNF468
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length522 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May be involved in transcriptional regulation.

Subcellular location

Nucleus Probable.

Tissue specificity

Isoform 1 and isoform 2 are highly expressed in placenta, pancreas, and small intestine. Lower expression in colon, ovary, testis, prostate, thymus, spleen, kidney, and liver. No expression detected in heart and brain. Ref.1

Sequence similarities

Belongs to the krueppel C2H2-type zinc-finger protein family.

Contains 11 C2H2-type zinc fingers.

Contains 1 KRAB domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5VIY5-1)

Also known as: ZNF468.1;

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: Q5VIY5-2)

Also known as: ZNF468.2;

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 522522Zinc finger protein 468
PRO_0000280412

Regions

Domain8 – 8073KRAB
Zinc finger215 – 23723C2H2-type 1; degenerate
Zinc finger243 – 26523C2H2-type 2
Zinc finger271 – 29323C2H2-type 3
Zinc finger299 – 32123C2H2-type 4
Zinc finger327 – 34923C2H2-type 5
Zinc finger355 – 37723C2H2-type 6
Zinc finger383 – 40523C2H2-type 7
Zinc finger411 – 43323C2H2-type 8
Zinc finger439 – 46123C2H2-type 9
Zinc finger467 – 48923C2H2-type 10
Zinc finger495 – 51723C2H2-type 11

Natural variations

Alternative sequence1 – 5353Missing in isoform 2.
VSP_023659
Natural variant3741H → R.
Corresponds to variant rs12462929 [ dbSNP | Ensembl ].
VAR_031141
Natural variant4771G → R.
Corresponds to variant rs10419826 [ dbSNP | Ensembl ].
VAR_031142

Experimental info

Sequence conflict2531N → G in CAH18233. Ref.2
Sequence conflict4821L → P in CAI56747. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ZNF468.1) [UniParc].

Last modified December 7, 2004. Version 1.
Checksum: C18A5B24C5CB22F7

FASTA52260,573
        10         20         30         40         50         60 
MALPQGLLTF RDVAIEFSQE EWKCLDPAQR TLYRDVMLEN YRNLVSLDIS SKCMLKTLSS 

        70         80         90        100        110        120 
TGQGNTEVIH TGTLHRQASH HIGEFCFHEI EKDIHGFEFQ WKEDETNGHA APMTEIKELA 

       130        140        150        160        170        180 
GSTGQHDQRH AGNKRIKDQL GSSFHLHLPE PHIFQSEGKI GNQVEKSINN ASSVSTSQRI 

       190        200        210        220        230        240 
CCRPKTHISN KYGNNSLHSS LLTQKWEVHM REKSFECIQS FKSFNCSSLL KKHQIIHLEE 

       250        260        270        280        290        300 
KQCKCDVCGK VFNQKRYLAC HRRCHTGEKP YKCNECGKTF GHNSSLFIHK ALHTGEKPYE 

       310        320        330        340        350        360 
CEECDKVFSR KSHLERHKRI HTGEKPYKCK VCDEAFAYNS YLAKHTILHT GEKPYTCNEC 

       370        380        390        400        410        420 
GKVFNRLSTL ARHHRLHTGE KPYKCEECDK VFSRKSHLER HRRIHSGEKP YKCEECCKVF 

       430        440        450        460        470        480 
SRKSNLERHR RIHTGEKPYK CKVCDKAFQR DSHLAQHQRV HTGEKPYKCN ECGKTFGQTS 

       490        500        510        520 
SLIIHRRLHT GEKPYKCNEC GKTFSQMSSL VYHHRLHSGE KP 

« Hide

Isoform 2 (ZNF468.2) [UniParc].

Checksum: 59B4880CF98C426E
Show »

FASTA46954,383

References

« Hide 'large scale' references
[1]"A novel zinc finger gene ZNF468 with two co-expressional splice variants, ZNF468.1 and ZNF468.2."
Sun L., Gu S., Li N., Zheng D., Sun Y., Li D., Ji C., Ying K., Xie Y., Mao Y.
Biochem. Genet. 43:271-286(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
Tissue: Fetal brain.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Colon carcinoma and Liver.
[3]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]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. 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY442330 mRNA. Translation: AAS01603.1.
AY442331 mRNA. Translation: AAS01604.1.
CR749381 mRNA. Translation: CAH18233.1.
CR936599 mRNA. Translation: CAI56747.1.
AC008813 Genomic DNA. No translation available.
CH471135 Genomic DNA. Translation: EAW72100.1.
CCDSCCDS33094.1. [Q5VIY5-1]
RefSeqNP_001008801.1. NM_001008801.1. [Q5VIY5-1]
NP_001264049.1. NM_001277120.1.
XP_006723523.1. XM_006723460.1. [Q5VIY5-2]
UniGeneHs.467223.

3D structure databases

ProteinModelPortalQ5VIY5.
SMRQ5VIY5. Positions 8-47, 166-522.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124696. 3 interactions.
IntActQ5VIY5. 2 interactions.

PTM databases

PhosphoSiteQ5VIY5.

Polymorphism databases

DMDM74756746.

Proteomic databases

MaxQBQ5VIY5.
PaxDbQ5VIY5.
PRIDEQ5VIY5.

Protocols and materials databases

DNASU90333.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000390651; ENSP00000445669; ENSG00000204604. [Q5VIY5-2]
ENST00000396409; ENSP00000379690; ENSG00000204604. [Q5VIY5-2]
ENST00000595646; ENSP00000470381; ENSG00000204604. [Q5VIY5-1]
GeneID90333.
KEGGhsa:90333.
UCSCuc002qaf.3. human. [Q5VIY5-1]

Organism-specific databases

CTD90333.
GeneCardsGC19M053341.
HGNCHGNC:33105. ZNF468.
neXtProtNX_Q5VIY5.
PharmGKBPA162410166.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000234617.
HOVERGENHBG018163.
InParanoidQ5VIY5.
KOK09228.
OMALPEPHIF.
OrthoDBEOG7KSX7Q.
PhylomeDBQ5VIY5.
TreeFamTF341892.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ5VIY5.
BgeeQ5VIY5.
CleanExHS_ZNF468.
GenevestigatorQ5VIY5.

Family and domain databases

Gene3D3.30.160.60. 11 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. 11 hits.
[Graphical view]
SUPFAMSSF109640. SSF109640. 1 hit.
PROSITEPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 10 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi90333.
NextBio76672.
PROQ5VIY5.

Entry information

Entry nameZN468_HUMAN
AccessionPrimary (citable) accession number: Q5VIY5
Secondary accession number(s): A8MV20 expand/collapse secondary AC list , Q5CZB8, Q5VIY4, Q68DI7
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: December 7, 2004
Last modified: July 9, 2014
This is version 96 of the entry and version 1 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM