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Q9P243 (ZFAT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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 ZFAT
Alternative name(s):
Zinc finger gene in AITD susceptibility region
Zinc finger protein 406
Gene names
Name:ZFAT
Synonyms:KIAA1485, ZFAT1, ZNF406
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1243 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated By similarity.

Subcellular location

Nucleus By similarity. Cytoplasmcytosol By similarity.

Tissue specificity

Isoform 1 is strongly expressed in placenta, spleen, kidney, testis and peripheral blood leukocytes. Expressed in CD4+ and CD8+ T-cells, CD19+ B-cells and CB14+ monocytes. Isoform 3 is strongly expressed in placenta, ovary, tonsil, CD19+ B-cells and CD14+ monocytes. Ref.1

Sequence similarities

Contains 19 C2H2-type zinc fingers.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P243-1)

Also known as: ZFAT-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: Q9P243-2)

Also known as: ZFAT-2; ZFAT-3;

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: Missing.
Isoform 3 (identifier: Q9P243-3)

Also known as: TR-ZFAT;

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: Missing.
     826-858: DKRSYSCPVCEKSFSEDRLIKSHIKTNHPEVSM → VSSKPKRQPRLPWVLIAFSSLCLYVGVSAAGQP
     859-1243: Missing.
Isoform 4 (identifier: Q9P243-4)

The sequence of this isoform differs from the canonical sequence as follows:
     150-211: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12431243Zinc finger protein ZFAT
PRO_0000047566

Regions

Zinc finger12 – 3524C2H2-type 1
Zinc finger116 – 14126C2H2-type 2; degenerate
Zinc finger271 – 29323C2H2-type 3
Zinc finger299 – 32123C2H2-type 4
Zinc finger326 – 34924C2H2-type 5
Zinc finger354 – 37724C2H2-type 6
Zinc finger404 – 42623C2H2-type 7
Zinc finger432 – 45423C2H2-type 8
Zinc finger458 – 48124C2H2-type 9
Zinc finger742 – 76423C2H2-type 10
Zinc finger770 – 79324C2H2-type 11
Zinc finger798 – 82225C2H2-type 12
Zinc finger830 – 85324C2H2-type 13
Zinc finger880 – 90324C2H2-type 14; degenerate
Zinc finger909 – 93123C2H2-type 15
Zinc finger937 – 95923C2H2-type 16
Zinc finger966 – 98823C2H2-type 17
Zinc finger994 – 101724C2H2-type 18
Zinc finger1041 – 106424C2H2-type 19

Natural variations

Alternative sequence1 – 1212Missing in isoform 2 and isoform 3.
VSP_016959
Alternative sequence150 – 21162Missing in isoform 4.
VSP_045461
Alternative sequence826 – 85833DKRSY…PEVSM → VSSKPKRQPRLPWVLIAFSS LCLYVGVSAAGQP in isoform 3.
VSP_034938
Alternative sequence859 – 1243385Missing in isoform 3.
VSP_034939
Natural variant641G → R. Ref.1 Ref.3
Corresponds to variant rs17778003 [ dbSNP | Ensembl ].
VAR_024840
Natural variant1021P → S. Ref.1
Corresponds to variant rs12541381 [ dbSNP | Ensembl ].
VAR_045815
Natural variant6721R → K.
Corresponds to variant rs35003767 [ dbSNP | Ensembl ].
VAR_052819

Secondary structure

................................................................ 1243
Helix Strand Turn

Details...

Sequences

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

Last modified January 10, 2006. Version 2.
Checksum: AF3E5339ED38D91C

FASTA1,243139,034
        10         20         30         40         50         60 
METRAAENTA IFMCKCCNLF SPNQSELLSH VSEKHMEEGV NVDEIIIPLR PLSTPEPPNS 

        70         80         90        100        110        120 
SKTGDEFLVM KRKRGRPKGS TKKSSTEEEL AENIVSPTED SPLAPEEGNS LPPSSLECSK 

       130        140        150        160        170        180 
CCRKFSNTRQ LRKHICIIVL NLGEEEGEAG NESDLELEKK CKEDDREKAS KRPRSQKTEK 

       190        200        210        220        230        240 
VQKISGKEAR QLSGAKKPII SVVLTAHEAI PGATKIVPVE AGPPETGATN SETTSADLVP 

       250        260        270        280        290        300 
RRGYQEYAIQ QTPYEQPMKS SRLGPTQLKI FTCEYCNKVF KFKHSLQAHL RIHTNEKPYK 

       310        320        330        340        350        360 
CPQCSYASAI KANLNVHLRK HTGEKFACDY CSFTCLSKGH LKVHIERVHK KIKQHCRFCK 

       370        380        390        400        410        420 
KKYSDVKNLI KHIRDAHDPQ DKKVKEALDE LCLMTREGKR QLLYDCHICE RKFKNELDRD 

       430        440        450        460        470        480 
RHMLVHGDKW PFACELCGHG ATKYQALELH VRKHPFVYVC AVCRKKFVSS IRLRTHIKEV 

       490        500        510        520        530        540 
HGAAQEALVF TSSINQSFCL LEPGGDIQQE ALGDQLQLVE EEFALQGVNA LKEEACPGDT 

       550        560        570        580        590        600 
QLEEGRKEPE APGEMPAPAV HLASPQAEST ALPPCELETT VVSSSDLHSQ EVVSDDFLLK 

       610        620        630        640        650        660 
NDTSSAEAHA APEKPPDMQH RSSVQTQGEV ITLLLSKAQS AGSDQESHGA QSPLGEGQNM 

       670        680        690        700        710        720 
AVLSAGDPDP SRCLRSNPAE ASDLLPPVAG GGDTITHQPD SCKAAPEHRS GITAFMKVLN 

       730        740        750        760        770        780 
SLQKKQMNTS LCERIRKVYG DLECEYCGKL FWYQVHFDMH VRTHTREHLY YCSQCHYSSI 

       790        800        810        820        830        840 
TKNCLKRHVI QKHSNILLKC PTDGCDYSTP DKYKLQAHLK VHTALDKRSY SCPVCEKSFS 

       850        860        870        880        890        900 
EDRLIKSHIK TNHPEVSMST ISEVLGRRVQ LKGLIGKRAM KCPYCDFYFM KNGSDLQRHI 

       910        920        930        940        950        960 
WAHEGVKPFK CSLCEYATRS KSNLKAHMNR HSTEKTHLCD MCGKKFKSKG TLKSHKLLHT 

       970        980        990       1000       1010       1020 
ADGKQFKCTV CDYTAAQKPQ LLRHMEQHVS FKPFRCAHCH YSCNISGSLK RHYNRKHPNE 

      1030       1040       1050       1060       1070       1080 
EYANVGTGEL AAEVLIQQGG LKCPVCSFVY GTKWEFNRHL KNKHGLKVVE IDGDPKWETA 

      1090       1100       1110       1120       1130       1140 
TEAPEEPSTQ YLHITEAEED VQGTQAAVAA LQDLRYTSES GDRLDPTAVN ILQQIIELGA 

      1150       1160       1170       1180       1190       1200 
ETHDATALAS VVAMAPGTVT VVKQVTEEEP SSNHTVMIQE TVQQASVELA EQHHLVVSSD 

      1210       1220       1230       1240 
DVEGIETVTV YTQGGEASEF IVYVQEAMQP VEEQAVEQPA QEL 

« Hide

Isoform 2 (ZFAT-2) (ZFAT-3) [UniParc].

Checksum: C4BA114EEC3AF2A6
Show »

FASTA1,231137,698
Isoform 3 (TR-ZFAT) [UniParc].

Checksum: DD3B6FD75DEEF958
Show »

FASTA84694,437
Isoform 4 [UniParc].

Checksum: 8CC03D90ACB3DD3B
Show »

FASTA1,181132,137

References

« Hide 'large scale' references
[1]"SNPs in the promoter of a B cell-specific antisense transcript, SAS-ZFAT, determine susceptibility to autoimmune thyroid disease."
Shirasawa S., Harada H., Furugaki K., Akamizu T., Ishikawa N., Ito K., Ito K., Tamai H., Kuma K., Kubota S., Hiratani H., Tsuchiya T., Baba I., Ishikawa M., Tanaka M., Sakai K., Aoki M., Yamamoto K., Sasazuki T.
Hum. Mol. Genet. 13:2221-2231(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY, VARIANTS ARG-64 AND SER-102.
[2]"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].
[3]"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] (ISOFORMS 1 AND 4), VARIANTS ARG-64 AND SER_102.
Tissue: Brain, Placenta and Skin.
[4]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 140-1243 (ISOFORM 1).
Tissue: Brain.
[5]RIKEN structural genomics initiative (RSGI)
Submitted (MAR-2007) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 269-325; 352-381; 398-430; 768-826; 828-857 AND 878-963.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB167738 mRNA. Translation: BAD12567.1.
AB167739 mRNA. Translation: BAD12568.1.
AB167740 mRNA. Translation: BAD12569.1.
AB167741 mRNA. Translation: BAD12570.1.
AC015599 Genomic DNA. No translation available.
AC087045 Genomic DNA. No translation available.
AC135075 Genomic DNA. No translation available.
BC025423 mRNA. Translation: AAH25423.1.
BC046180 mRNA. Translation: AAH46180.1.
BC101766 mRNA. Translation: AAI01767.1.
BC101768 mRNA. Translation: AAI01769.1.
BC143519 mRNA. Translation: AAI43520.1.
AB040918 mRNA. Translation: BAA96009.1.
RefSeqNP_001025110.2. NM_001029939.3.
NP_001167628.1. NM_001174157.1.
NP_065914.2. NM_020863.3.
UniGeneHs.446172.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2ELMNMR-A768-797[»]
2ELNNMR-A796-826[»]
2ELONMR-A828-857[»]
2ELPNMR-A878-907[»]
2ELQNMR-A907-935[»]
2ELRNMR-A935-963[»]
2ELSNMR-A269-297[»]
2ELTNMR-A297-325[»]
2ELUNMR-A352-381[»]
2ELVNMR-A402-430[»]
2RSHNMR-A323-353[»]
2RSINMR-A297-381[»]
2RSJNMR-A269-353[»]
ProteinModelPortalQ9P243.
SMRQ9P243. Positions 241-485, 743-1062.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121669. 1 interaction.
IntActQ9P243. 2 interactions.
STRING9606.ENSP00000367069.

PTM databases

PhosphoSiteQ9P243.

Polymorphism databases

DMDM85681862.

Proteomic databases

PaxDbQ9P243.
PRIDEQ9P243.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000377838; ENSP00000367069; ENSG00000066827. [Q9P243-1]
ENST00000520214; ENSP00000428483; ENSG00000066827. [Q9P243-2]
ENST00000520727; ENSP00000427831; ENSG00000066827. [Q9P243-2]
ENST00000523399; ENSP00000429091; ENSG00000066827. [Q9P243-4]
GeneID57623.
KEGGhsa:57623.
UCSCuc003yun.3. human. [Q9P243-1]
uc003yur.3. human. [Q9P243-3]

Organism-specific databases

CTD57623.
GeneCardsGC08M135561.
HGNCHGNC:19899. ZFAT.
HPAHPA020989.
MIM610931. gene.
neXtProtNX_Q9P243.
PharmGKBPA162409638.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOVERGENHBG065928.
InParanoidQ9P243.
OMAGHLKVHV.
PhylomeDBQ9P243.
TreeFamTF350017.

Gene expression databases

ArrayExpressQ9P243.
BgeeQ9P243.
CleanExHS_ZFAT.
GenevestigatorQ9P243.

Family and domain databases

Gene3D3.30.160.60. 8 hits.
InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF00096. zf-C2H2. 3 hits.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 19 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 10 hits.
PS50157. ZINC_FINGER_C2H2_2. 13 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSZFAT. human.
EvolutionaryTraceQ9P243.
GenomeRNAi57623.
NextBio64310.
PROQ9P243.
SOURCESearch...

Entry information

Entry nameZFAT_HUMAN
AccessionPrimary (citable) accession number: Q9P243
Secondary accession number(s): B7ZL15 expand/collapse secondary AC list , E9PER3, Q3MIM5, Q6PJ01, Q75PJ6, Q75PJ7, Q75PJ9, Q86X64
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: January 10, 2006
Last modified: April 16, 2014
This is version 116 of the entry and version 2 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 8

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