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

Q8TC21 (ZN596_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 105. 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 596
Gene names
Name:ZNF596
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length504 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May be involved in transcriptional regulation.

Subcellular location

Nucleus Probable.

Sequence similarities

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

Contains 11 C2H2-type zinc fingers.

Contains 1 KRAB domain.

Sequence caution

The sequence AAD05197.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence BAG36241.1 differs from that shown. Reason: Erroneous initiation.

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 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TC21-1)

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: Q8TC21-2)

The sequence of this isoform differs from the canonical sequence as follows:
     48-117: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8TC21-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-101: Missing.
     235-240: CSDLRK → LIIVNT
     241-504: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 504504Zinc finger protein 596
PRO_0000245849

Regions

Domain7 – 7872KRAB
Zinc finger195 – 21723C2H2-type 1
Zinc finger223 – 24523C2H2-type 2
Zinc finger251 – 27323C2H2-type 3
Zinc finger279 – 30123C2H2-type 4
Zinc finger307 – 32923C2H2-type 5
Zinc finger335 – 35723C2H2-type 6
Zinc finger363 – 38523C2H2-type 7
Zinc finger391 – 41323C2H2-type 8
Zinc finger419 – 44123C2H2-type 9
Zinc finger447 – 46923C2H2-type 10
Zinc finger475 – 49723C2H2-type 11

Natural variations

Alternative sequence1 – 101101Missing in isoform 3.
VSP_019801
Alternative sequence48 – 11770Missing in isoform 2.
VSP_019802
Alternative sequence235 – 2406CSDLRK → LIIVNT in isoform 3.
VSP_019803
Alternative sequence241 – 504264Missing in isoform 3.
VSP_019804
Natural variant1361T → K.
Corresponds to variant rs2074718 [ dbSNP | Ensembl ].
VAR_027014
Natural variant4761V → G.
Corresponds to variant rs2072174 [ dbSNP | Ensembl ].
VAR_027015

Experimental info

Sequence conflict891Q → H in AAH26190. Ref.3

Sequences

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

Last modified September 1, 2009. Version 2.
Checksum: 1158FF72312AE7DA

FASTA50458,513
        10         20         30         40         50         60 
MPSPDSMTFE DIIVDFTQEE WALLDTSQRK LFQDVMLENI SHLVSIGKQL CKSVVLSQLE 

        70         80         90        100        110        120 
QVEKLSTQRI SLLQGREVGI KHQEIPFIQH IYQKGTSTIS TMRSHTQEDP FLCNDLGEDF 

       130        140        150        160        170        180 
TQHIALTQNV ITYMRTKHFV SKKFGKIFSD WLSFNQHKEI HTKCKSYGSH LFDYAFIQNS 

       190        200        210        220        230        240 
ALRPHSVTHT REITLECRVC GKTFSKNSNL RRHEMIHTGE KPHGCHLCGK AFTHCSDLRK 

       250        260        270        280        290        300 
HERTHTGEKP YGCHLCGKAF SKSSNLRRHE MIHTREKAQI CHLCGKAFTH CSDLRKHERT 

       310        320        330        340        350        360 
HLGDKPYGCL LCGKAFSKCS YLRQHERTHN GEKPYECHLC GKAFSHCSHL RQHERSHNGE 

       370        380        390        400        410        420 
KPHGCHLCGK AFTESSVLKR HERIHTGEKP YECHVCGKAF TESSDLRRHE RTHTGEKPYE 

       430        440        450        460        470        480 
CHLCGKAFNH SSVLRRHERT HTGEKPYECN ICGKAFNRSY NFRLHRRVHT GEKPYVCPLC 

       490        500 
GKAFSKFFNL RQHERTHTKK AMNM 

« Hide

Isoform 2 [UniParc].

Checksum: 149F2838E4B41B33
Show »

FASTA43450,536
Isoform 3 [UniParc].

Checksum: C762D2408E4F9966
Show »

FASTA13916,188

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 3).
Tissue: Brain and Testis.
[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] (ISOFORM 1).
Tissue: Testis.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK313454 mRNA. Translation: BAG36241.1. Different initiation.
AK093442 mRNA. Translation: BAC04166.1.
AC004908 Genomic DNA. Translation: AAD05197.1. Sequence problems.
BC026190 mRNA. Translation: AAH26190.2.
RefSeqNP_001035880.1. NM_001042415.2.
NP_001035881.1. NM_001042416.2.
NP_001274183.1. NM_001287254.1.
NP_001274184.1. NM_001287255.1.
NP_001274185.1. NM_001287256.1.
NP_001274328.1. NM_001287399.1.
NP_775810.2. NM_173539.3.
UniGeneHs.591388.

3D structure databases

ProteinModelPortalQ8TC21.
SMRQ8TC21. Positions 7-47, 93-500.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127979. 1 interaction.
IntActQ8TC21. 1 interaction.
STRING9606.ENSP00000310033.

PTM databases

PhosphoSiteQ8TC21.

Polymorphism databases

DMDM257050982.

Proteomic databases

PaxDbQ8TC21.
PRIDEQ8TC21.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308811; ENSP00000310033; ENSG00000172748. [Q8TC21-1]
ENST00000320552; ENSP00000318719; ENSG00000172748. [Q8TC21-2]
ENST00000398612; ENSP00000381613; ENSG00000172748. [Q8TC21-1]
GeneID169270.
KEGGhsa:169270.
UCSCuc003wot.3. human. [Q8TC21-1]

Organism-specific databases

CTD169270.
GeneCardsGC08P000174.
HGNCHGNC:27268. ZNF596.
HPAHPA055463.
neXtProtNX_Q8TC21.
PharmGKBPA134901402.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000234617.
HOVERGENHBG018163.
InParanoidQ8TC21.
KOK09228.
OMASHTQEDP.
PhylomeDBQ8TC21.
TreeFamTF338497.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ8TC21.
BgeeQ8TC21.
CleanExHS_ZNF596.
GenevestigatorQ8TC21.

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. 11 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi169270.
NextBio88795.
PROQ8TC21.

Entry information

Entry nameZN596_HUMAN
AccessionPrimary (citable) accession number: Q8TC21
Secondary accession number(s): B2R8P4, O95015, Q8N9X0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: September 1, 2009
Last modified: April 16, 2014
This is version 105 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

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