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Q8TC21

- ZN596_HUMAN

UniProt

Q8TC21 - ZN596_HUMAN

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Protein
Zinc finger protein 596
Gene
ZNF596
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 fingeri195 – 21723C2H2-type 1
Add
BLAST
Zinc fingeri223 – 24523C2H2-type 2
Add
BLAST
Zinc fingeri251 – 27323C2H2-type 3
Add
BLAST
Zinc fingeri279 – 30123C2H2-type 4
Add
BLAST
Zinc fingeri307 – 32923C2H2-type 5
Add
BLAST
Zinc fingeri335 – 35723C2H2-type 6
Add
BLAST
Zinc fingeri363 – 38523C2H2-type 7
Add
BLAST
Zinc fingeri391 – 41323C2H2-type 8
Add
BLAST
Zinc fingeri419 – 44123C2H2-type 9
Add
BLAST
Zinc fingeri447 – 46923C2H2-type 10
Add
BLAST
Zinc fingeri475 – 49723C2H2-type 11
Add
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 596
Gene namesi
Name:ZNF596
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:27268. ZNF596.

Subcellular locationi

Nucleus Inferred

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134901402.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 504504Zinc finger protein 596
PRO_0000245849Add
BLAST

Proteomic databases

PaxDbiQ8TC21.
PRIDEiQ8TC21.

PTM databases

PhosphoSiteiQ8TC21.

Expressioni

Gene expression databases

ArrayExpressiQ8TC21.
BgeeiQ8TC21.
CleanExiHS_ZNF596.
GenevestigatoriQ8TC21.

Organism-specific databases

HPAiHPA055463.

Interactioni

Protein-protein interaction databases

BioGridi127979. 1 interaction.
IntActiQ8TC21. 1 interaction.
STRINGi9606.ENSP00000310033.

Structurei

3D structure databases

ProteinModelPortaliQ8TC21.
SMRiQ8TC21. Positions 7-47, 83-500.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini7 – 7872KRAB
Add
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ8TC21.
KOiK09228.
OMAiSHTQEDP.
PhylomeDBiQ8TC21.
TreeFamiTF338497.

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TC21-1) [UniParc]FASTAAdd to Basket

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

MPSPDSMTFE DIIVDFTQEE WALLDTSQRK LFQDVMLENI SHLVSIGKQL    50
CKSVVLSQLE QVEKLSTQRI SLLQGREVGI KHQEIPFIQH IYQKGTSTIS 100
TMRSHTQEDP FLCNDLGEDF TQHIALTQNV ITYMRTKHFV SKKFGKIFSD 150
WLSFNQHKEI HTKCKSYGSH LFDYAFIQNS ALRPHSVTHT REITLECRVC 200
GKTFSKNSNL RRHEMIHTGE KPHGCHLCGK AFTHCSDLRK HERTHTGEKP 250
YGCHLCGKAF SKSSNLRRHE MIHTREKAQI CHLCGKAFTH CSDLRKHERT 300
HLGDKPYGCL LCGKAFSKCS YLRQHERTHN GEKPYECHLC GKAFSHCSHL 350
RQHERSHNGE KPHGCHLCGK AFTESSVLKR HERIHTGEKP YECHVCGKAF 400
TESSDLRRHE RTHTGEKPYE CHLCGKAFNH SSVLRRHERT HTGEKPYECN 450
ICGKAFNRSY NFRLHRRVHT GEKPYVCPLC GKAFSKFFNL RQHERTHTKK 500
AMNM 504
Length:504
Mass (Da):58,513
Last modified:September 1, 2009 - v2
Checksum:i1158FF72312AE7DA
GO
Isoform 2 (identifier: Q8TC21-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-117: Missing.

Note: No experimental confirmation available.

Show »
Length:434
Mass (Da):50,536
Checksum:i149F2838E4B41B33
GO
Isoform 3 (identifier: Q8TC21-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:139
Mass (Da):16,188
Checksum:iC762D2408E4F9966
GO

Sequence cautioni

The sequence BAG36241.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAD05197.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti136 – 1361T → K.
Corresponds to variant rs2074718 [ dbSNP | Ensembl ].
VAR_027014
Natural varianti476 – 4761V → G.
Corresponds to variant rs2072174 [ dbSNP | Ensembl ].
VAR_027015

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 101101Missing in isoform 3.
VSP_019801Add
BLAST
Alternative sequencei48 – 11770Missing in isoform 2.
VSP_019802Add
BLAST
Alternative sequencei235 – 2406CSDLRK → LIIVNT in isoform 3.
VSP_019803
Alternative sequencei241 – 504264Missing in isoform 3.
VSP_019804Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti89 – 891Q → H in AAH26190. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5951.2. [Q8TC21-1]
RefSeqiNP_001035880.1. NM_001042415.2. [Q8TC21-1]
NP_001035881.1. NM_001042416.2. [Q8TC21-1]
NP_001274183.1. NM_001287254.1. [Q8TC21-1]
NP_001274184.1. NM_001287255.1. [Q8TC21-1]
NP_001274185.1. NM_001287256.1. [Q8TC21-1]
NP_001274328.1. NM_001287399.1.
NP_775810.2. NM_173539.3. [Q8TC21-1]
XP_006716299.1. XM_006716236.1. [Q8TC21-1]
UniGeneiHs.591388.

Genome annotation databases

EnsembliENST00000308811; ENSP00000310033; ENSG00000172748. [Q8TC21-1]
ENST00000320552; ENSP00000318719; ENSG00000172748. [Q8TC21-2]
ENST00000398612; ENSP00000381613; ENSG00000172748. [Q8TC21-1]
GeneIDi169270.
KEGGihsa:169270.
UCSCiuc003wot.3. human. [Q8TC21-1]

Polymorphism databases

DMDMi257050982.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5951.2. [Q8TC21-1 ]
RefSeqi NP_001035880.1. NM_001042415.2. [Q8TC21-1 ]
NP_001035881.1. NM_001042416.2. [Q8TC21-1 ]
NP_001274183.1. NM_001287254.1. [Q8TC21-1 ]
NP_001274184.1. NM_001287255.1. [Q8TC21-1 ]
NP_001274185.1. NM_001287256.1. [Q8TC21-1 ]
NP_001274328.1. NM_001287399.1.
NP_775810.2. NM_173539.3. [Q8TC21-1 ]
XP_006716299.1. XM_006716236.1. [Q8TC21-1 ]
UniGenei Hs.591388.

3D structure databases

ProteinModelPortali Q8TC21.
SMRi Q8TC21. Positions 7-47, 83-500.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127979. 1 interaction.
IntActi Q8TC21. 1 interaction.
STRINGi 9606.ENSP00000310033.

PTM databases

PhosphoSitei Q8TC21.

Polymorphism databases

DMDMi 257050982.

Proteomic databases

PaxDbi Q8TC21.
PRIDEi Q8TC21.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000308811 ; ENSP00000310033 ; ENSG00000172748 . [Q8TC21-1 ]
ENST00000320552 ; ENSP00000318719 ; ENSG00000172748 . [Q8TC21-2 ]
ENST00000398612 ; ENSP00000381613 ; ENSG00000172748 . [Q8TC21-1 ]
GeneIDi 169270.
KEGGi hsa:169270.
UCSCi uc003wot.3. human. [Q8TC21-1 ]

Organism-specific databases

CTDi 169270.
GeneCardsi GC08P000174.
HGNCi HGNC:27268. ZNF596.
HPAi HPA055463.
neXtProti NX_Q8TC21.
PharmGKBi PA134901402.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
HOGENOMi HOG000234617.
HOVERGENi HBG018163.
InParanoidi Q8TC21.
KOi K09228.
OMAi SHTQEDP.
PhylomeDBi Q8TC21.
TreeFami TF338497.

Enzyme and pathway databases

Reactomei REACT_12627. Generic Transcription Pathway.

Miscellaneous databases

GenomeRNAii 169270.
NextBioi 88795.
PROi Q8TC21.

Gene expression databases

ArrayExpressi Q8TC21.
Bgeei Q8TC21.
CleanExi HS_ZNF596.
Genevestigatori Q8TC21.

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. 11 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.
    , 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.
    , 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.

Entry informationi

Entry nameiZN596_HUMAN
AccessioniPrimary (citable) accession number: Q8TC21
Secondary accession number(s): B2R8P4, O95015, Q8N9X0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: September 1, 2009
Last modified: September 3, 2014
This is version 109 of the entry and version 2 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 8
    Human chromosome 8: 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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