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Q5VIY5

- ZN468_HUMAN

UniProt

Q5VIY5 - ZN468_HUMAN

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Protein

Zinc finger protein 468

Gene
ZNF468
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri215 – 23723C2H2-type 1; degenerateAdd
BLAST
Zinc fingeri243 – 26523C2H2-type 2Add
BLAST
Zinc fingeri271 – 29323C2H2-type 3Add
BLAST
Zinc fingeri299 – 32123C2H2-type 4Add
BLAST
Zinc fingeri327 – 34923C2H2-type 5Add
BLAST
Zinc fingeri355 – 37723C2H2-type 6Add
BLAST
Zinc fingeri383 – 40523C2H2-type 7Add
BLAST
Zinc fingeri411 – 43323C2H2-type 8Add
BLAST
Zinc fingeri439 – 46123C2H2-type 9Add
BLAST
Zinc fingeri467 – 48923C2H2-type 10Add
BLAST
Zinc fingeri495 – 51723C2H2-type 11Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. regulation of transcription, DNA-templated Source: UniProtKB-KW
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_12627. Generic Transcription Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 468
Gene namesi
Name:ZNF468
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:33105. ZNF468.

Subcellular locationi

Nucleus Inferred

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162410166.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 522522Zinc finger protein 468PRO_0000280412Add
BLAST

Proteomic databases

MaxQBiQ5VIY5.
PaxDbiQ5VIY5.
PRIDEiQ5VIY5.

PTM databases

PhosphoSiteiQ5VIY5.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

ArrayExpressiQ5VIY5.
BgeeiQ5VIY5.
CleanExiHS_ZNF468.
GenevestigatoriQ5VIY5.

Interactioni

Protein-protein interaction databases

BioGridi124696. 3 interactions.
IntActiQ5VIY5. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ5VIY5.
SMRiQ5VIY5. Positions 8-47, 166-522.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 8073KRABAdd
BLAST

Sequence similaritiesi

Contains 11 C2H2-type zinc fingers.
Contains 1 KRAB domain.

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri215 – 23723C2H2-type 1; degenerateAdd
BLAST
Zinc fingeri243 – 26523C2H2-type 2Add
BLAST
Zinc fingeri271 – 29323C2H2-type 3Add
BLAST
Zinc fingeri299 – 32123C2H2-type 4Add
BLAST
Zinc fingeri327 – 34923C2H2-type 5Add
BLAST
Zinc fingeri355 – 37723C2H2-type 6Add
BLAST
Zinc fingeri383 – 40523C2H2-type 7Add
BLAST
Zinc fingeri411 – 43323C2H2-type 8Add
BLAST
Zinc fingeri439 – 46123C2H2-type 9Add
BLAST
Zinc fingeri467 – 48923C2H2-type 10Add
BLAST
Zinc fingeri495 – 51723C2H2-type 11Add
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ5VIY5.
KOiK09228.
OMAiLPEPHIF.
OrthoDBiEOG7KSX7Q.
PhylomeDBiQ5VIY5.
TreeFamiTF341892.

Family and domain databases

Gene3Di3.30.160.60. 11 hits.
InterProiIPR001909. Krueppel-associated_box.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 11 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 10 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q5VIY5-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MALPQGLLTF RDVAIEFSQE EWKCLDPAQR TLYRDVMLEN YRNLVSLDIS    50
SKCMLKTLSS TGQGNTEVIH TGTLHRQASH HIGEFCFHEI EKDIHGFEFQ 100
WKEDETNGHA APMTEIKELA GSTGQHDQRH AGNKRIKDQL GSSFHLHLPE 150
PHIFQSEGKI GNQVEKSINN ASSVSTSQRI CCRPKTHISN KYGNNSLHSS 200
LLTQKWEVHM REKSFECIQS FKSFNCSSLL KKHQIIHLEE KQCKCDVCGK 250
VFNQKRYLAC HRRCHTGEKP YKCNECGKTF GHNSSLFIHK ALHTGEKPYE 300
CEECDKVFSR KSHLERHKRI HTGEKPYKCK VCDEAFAYNS YLAKHTILHT 350
GEKPYTCNEC GKVFNRLSTL ARHHRLHTGE KPYKCEECDK VFSRKSHLER 400
HRRIHSGEKP YKCEECCKVF SRKSNLERHR RIHTGEKPYK CKVCDKAFQR 450
DSHLAQHQRV HTGEKPYKCN ECGKTFGQTS SLIIHRRLHT GEKPYKCNEC 500
GKTFSQMSSL VYHHRLHSGE KP 522
Length:522
Mass (Da):60,573
Last modified:December 7, 2004 - v1
Checksum:iC18A5B24C5CB22F7
GO
Isoform 2 (identifier: Q5VIY5-2) [UniParc]FASTAAdd to Basket

Also known as: ZNF468.2

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

Show »
Length:469
Mass (Da):54,383
Checksum:i59B4880CF98C426E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti374 – 3741H → R.
Corresponds to variant rs12462929 [ dbSNP | Ensembl ].
VAR_031141
Natural varianti477 – 4771G → R.
Corresponds to variant rs10419826 [ dbSNP | Ensembl ].
VAR_031142

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5353Missing in isoform 2. VSP_023659Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti253 – 2531N → G in CAH18233. 1 Publication
Sequence conflicti482 – 4821L → P in CAI56747. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS33094.1. [Q5VIY5-1]
RefSeqiNP_001008801.1. NM_001008801.1. [Q5VIY5-1]
NP_001264049.1. NM_001277120.1.
XP_006723523.1. XM_006723460.1. [Q5VIY5-2]
UniGeneiHs.467223.

Genome annotation databases

EnsembliENST00000390651; ENSP00000445669; ENSG00000204604. [Q5VIY5-2]
ENST00000396409; ENSP00000379690; ENSG00000204604. [Q5VIY5-2]
ENST00000595646; ENSP00000470381; ENSG00000204604. [Q5VIY5-1]
GeneIDi90333.
KEGGihsa:90333.
UCSCiuc002qaf.3. human. [Q5VIY5-1]

Polymorphism databases

DMDMi74756746.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS33094.1. [Q5VIY5-1 ]
RefSeqi NP_001008801.1. NM_001008801.1. [Q5VIY5-1 ]
NP_001264049.1. NM_001277120.1.
XP_006723523.1. XM_006723460.1. [Q5VIY5-2 ]
UniGenei Hs.467223.

3D structure databases

ProteinModelPortali Q5VIY5.
SMRi Q5VIY5. Positions 8-47, 166-522.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124696. 3 interactions.
IntActi Q5VIY5. 2 interactions.

PTM databases

PhosphoSitei Q5VIY5.

Polymorphism databases

DMDMi 74756746.

Proteomic databases

MaxQBi Q5VIY5.
PaxDbi Q5VIY5.
PRIDEi Q5VIY5.

Protocols and materials databases

DNASUi 90333.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000390651 ; ENSP00000445669 ; ENSG00000204604 . [Q5VIY5-2 ]
ENST00000396409 ; ENSP00000379690 ; ENSG00000204604 . [Q5VIY5-2 ]
ENST00000595646 ; ENSP00000470381 ; ENSG00000204604 . [Q5VIY5-1 ]
GeneIDi 90333.
KEGGi hsa:90333.
UCSCi uc002qaf.3. human. [Q5VIY5-1 ]

Organism-specific databases

CTDi 90333.
GeneCardsi GC19M053341.
HGNCi HGNC:33105. ZNF468.
neXtProti NX_Q5VIY5.
PharmGKBi PA162410166.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
HOGENOMi HOG000234617.
HOVERGENi HBG018163.
InParanoidi Q5VIY5.
KOi K09228.
OMAi LPEPHIF.
OrthoDBi EOG7KSX7Q.
PhylomeDBi Q5VIY5.
TreeFami TF341892.

Enzyme and pathway databases

Reactomei REACT_12627. Generic Transcription Pathway.

Miscellaneous databases

GenomeRNAii 90333.
NextBioi 76672.
PROi Q5VIY5.

Gene expression databases

ArrayExpressi Q5VIY5.
Bgeei Q5VIY5.
CleanExi HS_ZNF468.
Genevestigatori Q5VIY5.

Family and domain databases

Gene3Di 3.30.160.60. 11 hits.
InterProi IPR001909. Krueppel-associated_box.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF01352. KRAB. 1 hit.
[Graphical view ]
SMARTi SM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 11 hits.
[Graphical view ]
SUPFAMi SSF109640. SSF109640. 1 hit.
PROSITEi PS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 10 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiZN468_HUMAN
AccessioniPrimary (citable) accession number: Q5VIY5
Secondary accession number(s): A8MV20
, Q5CZB8, Q5VIY4, Q68DI7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: December 7, 2004
Last modified: September 3, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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