Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8NDQ6 (ZN540_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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 540
Gene names
Name:ZNF540
ORF Names:Nbla10512
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length660 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May act as a transcriptional repressor. Ref.5

Subunit structure

May interact with MVP.

Subcellular location

Nucleus. Cytoplasm Ref.5.

Tissue specificity

Expressed in several fetal tissues, including gut, heart, brain, muscle, lung, testis and liver. Ref.5

Sequence similarities

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

Contains 17 C2H2-type zinc fingers.

Contains 1 KRAB domain.

Sequence caution

The sequence AAH17940.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence CAD97942.1 differs from that shown. Reason: Frameshift at position 580.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NDQ6-1)

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: Q8NDQ6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     46-77: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8NDQ6-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: MAHALVTFRD...ARDVTGRQCP → MLPNFKLYNF...NFCLLLCFLS
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 660660Zinc finger protein 540
PRO_0000047641

Regions

Domain6 – 7772KRAB
Zinc finger187 – 20923C2H2-type 1
Zinc finger215 – 23723C2H2-type 2
Zinc finger243 – 26523C2H2-type 3
Zinc finger271 – 29323C2H2-type 4
Zinc finger299 – 32123C2H2-type 5
Zinc finger327 – 34923C2H2-type 6
Zinc finger355 – 37723C2H2-type 7
Zinc finger383 – 40523C2H2-type 8
Zinc finger411 – 43323C2H2-type 9
Zinc finger439 – 46123C2H2-type 10
Zinc finger467 – 48923C2H2-type 11
Zinc finger495 – 51723C2H2-type 12
Zinc finger523 – 54523C2H2-type 13
Zinc finger551 – 57323C2H2-type 14
Zinc finger579 – 60123C2H2-type 15
Zinc finger607 – 62923C2H2-type 16
Zinc finger635 – 65723C2H2-type 17

Natural variations

Alternative sequence1 – 7777MAHAL…GRQCP → MLPNFKLYNFIEIFFKPLTP SKNRFHFVSYFENVNFMLCW LQENNFCLLLCFLS in isoform 4.
VSP_016036
Alternative sequence46 – 7732Missing in isoform 2.
VSP_016037
Natural variant531D → V. Ref.1
Corresponds to variant rs1975937 [ dbSNP | Ensembl ].
VAR_033575
Natural variant2751K → I in a colorectal cancer sample; somatic mutation. Ref.6
VAR_035586
Natural variant3401G → R. Ref.7
VAR_069366

Experimental info

Sequence conflict1271E → G in CAD97942. Ref.2

Sequences

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

Last modified October 1, 2002. Version 1.
Checksum: 9115ABB3B056D9B3

FASTA66077,094
        10         20         30         40         50         60 
MAHALVTFRD VAIDFSQKEW ECLDTTQRKL YRDVMLENYN NLVSLGYSGS KPDVITLLEQ 

        70         80         90        100        110        120 
GKEPCVVARD VTGRQCPGLL SRHKTKKLSS EKDIHEISLS KESIIEKSKT LRLKGSIFRN 

       130        140        150        160        170        180 
EWQNKSEFEG QQGLKERSIS QKKIVSKKMS TDRKRPSFTL NQRIHNSEKS CDSHLVQHGK 

       190        200        210        220        230        240 
IDSDVKHDCK ECGSTFNNVY QLTLHQKIHT GEKSCKCEKC GKVFSHSYQL TLHQRFHTGE 

       250        260        270        280        290        300 
KPYECQECGK TFTLYPQLNR HQKIHTGKKP YMCKKCDKGF FSRLELTQHK RIHTGKKSYE 

       310        320        330        340        350        360 
CKECGKVFQL IFYFKEHERI HTGKKPYECK ECGKAFSVCG QLTRHQKIHT GVKPYECKEC 

       370        380        390        400        410        420 
GKTFRLSFYL TEHRRTHAGK KPYECKECGK SFNVRGQLNR HKTIHTGIKP FACKVCEKAF 

       430        440        450        460        470        480 
SYSGDLRVHS RIHTGEKPYE CKECGKAFML RSVLTEHQRL HTGVKPYECK ECGKTFRVRS 

       490        500        510        520        530        540 
QISLHKKIHT DVKPYKCVRC GKTFRFGFYL TEHQRIHTGE KPYKCKECGK AFIRRGNLKE 

       550        560        570        580        590        600 
HLKIHSGLKP YDCKECGKSF SRRGQFTEHQ KIHTGVKPYK CKECGKAFSR SVDLRIHQRI 

       610        620        630        640        650        660 
HTGEKPYECK QCGKAFRLNS HLTEHQRIHT GEKPYECKVC RKAFRQYSHL YQHQKTHNVI 

« Hide

Isoform 2 [UniParc].

Checksum: 9F9A840C17682706
Show »

FASTA62873,708
Isoform 4 [UniParc].

Checksum: 7A0FCC9ED61BDE68
Show »

FASTA63774,993

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] (ISOFORMS 1 AND 4), VARIANT VAL-53.
Tissue: Hippocampus.
[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] (ISOFORMS 1 AND 2).
Tissue: Brain and Heart.
[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] (ISOFORM 1).
Tissue: Brain.
[4]"Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma."
Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A.
Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 318-660.
Tissue: Neuroblastoma.
[5]"A novel human zinc finger protein ZNF540 interacts with MVP and inhibits transcriptional activities of the ERK signal pathway."
Xiang Z., Yuan W., Luo N., Wang Y., Tan K., Deng Y., Zhou X., Zhu C., Li Y., Liu M., Wu X., Li Y.
Biochem. Biophys. Res. Commun. 347:288-296(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH MVP, TISSUE SPECIFICITY.
[6]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-275.
[7]"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.
N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-340.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK131388 mRNA. Translation: BAD18539.1.
AK290486 mRNA. Translation: BAF83175.1.
AL832100 mRNA. Translation: CAD91161.1.
AL832315 mRNA. Translation: CAD38611.1.
BX537980 mRNA. Translation: CAD97942.1. Frameshift.
BC017940 mRNA. Translation: AAH17940.1. Sequence problems.
BC126478 mRNA. Translation: AAI26479.1.
BC126480 mRNA. Translation: AAI26481.1.
AB074186 mRNA. Translation: BAE45743.1.
CCDSCCDS12506.1. [Q8NDQ6-1]
CCDS54258.1. [Q8NDQ6-2]
RefSeqNP_001165696.1. NM_001172225.2. [Q8NDQ6-1]
NP_001165697.1. NM_001172226.2. [Q8NDQ6-2]
NP_689819.1. NM_152606.4. [Q8NDQ6-1]
UniGeneHs.728927.

3D structure databases

ProteinModelPortalQ8NDQ6.
SMRQ8NDQ6. Positions 6-48, 174-657.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127861. 2 interactions.

PTM databases

PhosphoSiteQ8NDQ6.

Polymorphism databases

DMDM74762556.

Proteomic databases

PaxDbQ8NDQ6.
PRIDEQ8NDQ6.

Protocols and materials databases

DNASU163255.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316433; ENSP00000324598; ENSG00000171817. [Q8NDQ6-1]
ENST00000343599; ENSP00000343768; ENSG00000171817. [Q8NDQ6-1]
ENST00000589117; ENSP00000467118; ENSG00000171817. [Q8NDQ6-2]
ENST00000592533; ENSP00000466274; ENSG00000171817. [Q8NDQ6-1]
GeneID163255.
KEGGhsa:163255.
UCSCuc002ogq.4. human. [Q8NDQ6-1]
uc010efq.4. human. [Q8NDQ6-2]

Organism-specific databases

CTD163255.
GeneCardsGC19P038086.
HGNCHGNC:25331. ZNF540.
HPAHPA003444.
MIM613903. gene.
neXtProtNX_Q8NDQ6.
PharmGKBPA134980975.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOVERGENHBG018163.
InParanoidQ8NDQ6.
KOK09228.
OMASFYLTEH.
OrthoDBEOG7KSX7Q.
PhylomeDBQ8NDQ6.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ8NDQ6.
BgeeQ8NDQ6.
CleanExHS_ZNF540.
GenevestigatorQ8NDQ6.

Family and domain databases

Gene3D3.30.160.60. 17 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. 17 hits.
[Graphical view]
SUPFAMSSF109640. SSF109640. 1 hit.
PROSITEPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 17 hits.
PS50157. ZINC_FINGER_C2H2_2. 17 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi163255.
NextBio88343.
PROQ8NDQ6.
SOURCESearch...

Entry information

Entry nameZN540_HUMAN
AccessionPrimary (citable) accession number: Q8NDQ6
Secondary accession number(s): A0AVS5 expand/collapse secondary AC list , A8K371, Q05D58, Q3LIC5, Q6ZN36, Q7Z3C8, Q86T31
Entry history
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 101 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

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 19

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