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Protein

Zinc finger protein 468

Gene

ZNF468

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri243 – 26523C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri271 – 29323C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri299 – 32123C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri327 – 34923C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri355 – 37723C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri383 – 40523C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri411 – 43323C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri439 – 46123C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri467 – 48923C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri495 – 51723C2H2-type 11PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

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 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:33105. ZNF468.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162410166.

Polymorphism and mutation databases

BioMutaiZNF468.
DMDMi74756746.

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

BgeeiQ5VIY5.
CleanExiHS_ZNF468.
ExpressionAtlasiQ5VIY5. baseline and differential.
GenevisibleiQ5VIY5. HS.

Interactioni

Protein-protein interaction databases

BioGridi124696. 3 interactions.
IntActiQ5VIY5. 2 interactions.
STRINGi9606.ENSP00000470381.

Structurei

3D structure databases

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 8073KRABPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 11 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

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

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00690000102079.
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. AlignAdd to basket

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

        10         20         30         40         50
MALPQGLLTF RDVAIEFSQE EWKCLDPAQR TLYRDVMLEN YRNLVSLDIS
60 70 80 90 100
SKCMLKTLSS TGQGNTEVIH TGTLHRQASH HIGEFCFHEI EKDIHGFEFQ
110 120 130 140 150
WKEDETNGHA APMTEIKELA GSTGQHDQRH AGNKRIKDQL GSSFHLHLPE
160 170 180 190 200
PHIFQSEGKI GNQVEKSINN ASSVSTSQRI CCRPKTHISN KYGNNSLHSS
210 220 230 240 250
LLTQKWEVHM REKSFECIQS FKSFNCSSLL KKHQIIHLEE KQCKCDVCGK
260 270 280 290 300
VFNQKRYLAC HRRCHTGEKP YKCNECGKTF GHNSSLFIHK ALHTGEKPYE
310 320 330 340 350
CEECDKVFSR KSHLERHKRI HTGEKPYKCK VCDEAFAYNS YLAKHTILHT
360 370 380 390 400
GEKPYTCNEC GKVFNRLSTL ARHHRLHTGE KPYKCEECDK VFSRKSHLER
410 420 430 440 450
HRRIHSGEKP YKCEECCKVF SRKSNLERHR RIHTGEKPYK CKVCDKAFQR
460 470 480 490 500
DSHLAQHQRV HTGEKPYKCN ECGKTFGQTS SLIIHRRLHT GEKPYKCNEC
510 520
GKTFSQMSSL VYHHRLHSGE KP
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti253 – 2531N → G in CAH18233 (PubMed:17974005).Curated
Sequence conflicti482 – 4821L → P in CAI56747 (PubMed:17974005).Curated

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. 1 PublicationVSP_023659Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
UniGeneiHs.467223.

Genome annotation databases

EnsembliENST00000595646; ENSP00000470381; ENSG00000204604. [Q5VIY5-1]
GeneIDi90333.
KEGGihsa:90333.
UCSCiuc002qaf.3. human. [Q5VIY5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
UniGeneiHs.467223.

3D structure databases

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

Protein-protein interaction databases

BioGridi124696. 3 interactions.
IntActiQ5VIY5. 2 interactions.
STRINGi9606.ENSP00000470381.

PTM databases

PhosphoSiteiQ5VIY5.

Polymorphism and mutation databases

BioMutaiZNF468.
DMDMi74756746.

Proteomic databases

MaxQBiQ5VIY5.
PaxDbiQ5VIY5.
PRIDEiQ5VIY5.

Protocols and materials databases

DNASUi90333.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000595646; ENSP00000470381; ENSG00000204604. [Q5VIY5-1]
GeneIDi90333.
KEGGihsa:90333.
UCSCiuc002qaf.3. human. [Q5VIY5-1]

Organism-specific databases

CTDi90333.
GeneCardsiGC19M053341.
HGNCiHGNC:33105. ZNF468.
neXtProtiNX_Q5VIY5.
PharmGKBiPA162410166.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00690000102079.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ5VIY5.
KOiK09228.
OMAiLPEPHIF.
OrthoDBiEOG7KSX7Q.
PhylomeDBiQ5VIY5.
TreeFamiTF341892.

Enzyme and pathway databases

ReactomeiREACT_12627. Generic Transcription Pathway.

Miscellaneous databases

GenomeRNAii90333.
NextBioi76672.
PROiQ5VIY5.

Gene expression databases

BgeeiQ5VIY5.
CleanExiHS_ZNF468.
ExpressionAtlasiQ5VIY5. baseline and differential.
GenevisibleiQ5VIY5. HS.

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]
ProtoNetiSearch...

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: June 24, 2015
This is version 102 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.