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Q96SR6

- ZN382_HUMAN

UniProt

Q96SR6 - ZN382_HUMAN

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Protein

Zinc finger protein 382

Gene

ZNF382

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

Functions as a sequence-specific transcriptional repressor.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri212 – 23423C2H2-type 1; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri296 – 31823C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri324 – 34623C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri352 – 37423C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri380 – 40223C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri408 – 43023C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri436 – 45823C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri464 – 48623C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri492 – 51423C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri520 – 54223C2H2-type 10PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. negative regulation of transcription, DNA-templated Source: Ensembl
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Repressor

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 382
Alternative name(s):
KRAB/zinc finger suppressor protein 1
Short name:
KS1
Multiple zinc finger and krueppel-associated box protein KS1
Gene namesi
Name:ZNF382
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:17409. ZNF382.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134869965.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 550550Zinc finger protein 382PRO_0000047549Add
BLAST

Proteomic databases

PaxDbiQ96SR6.
PRIDEiQ96SR6.

PTM databases

PhosphoSiteiQ96SR6.

Expressioni

Tissue specificityi

Specifically expressed in heart with a weaker expression also detected in skeletal muscle.1 Publication

Developmental stagei

Primarily detected in 34 day-old embryos. Widely expressed at different levels during embryonic development where it is predominantly expressed in cerebellum, kidney, and cerebrum and to a lesser extent in lung, heart, skeletal muscle, tongue, and adrenal gland.1 Publication

Gene expression databases

BgeeiQ96SR6.
CleanExiHS_ZNF382.
ExpressionAtlasiQ96SR6. baseline and differential.
GenevestigatoriQ96SR6.

Organism-specific databases

HPAiHPA049259.

Interactioni

Subunit structurei

Interacts with TRIM28; enhances the transcriptional repressor activity.By similarity

Protein-protein interaction databases

BioGridi124348. 3 interactions.
STRINGi9606.ENSP00000292928.

Structurei

3D structure databases

ProteinModelPortaliQ96SR6.
SMRiQ96SR6. Positions 7-49, 210-542.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini7 – 7872KRABPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 105105Mediates interaction with TRIM28By similarityAdd
BLAST
Regioni5 – 4642Represses transcriptionBy similarityAdd
BLAST
Regioni70 – 211142Represses transcriptionBy similarityAdd
BLAST
Regioni296 – 550255Required for transcriptional repression activity; probably mediates sequence-specific DNA-bindingBy similarityAdd
BLAST

Sequence similaritiesi

Contains 10 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri212 – 23423C2H2-type 1; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri296 – 31823C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri324 – 34623C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri352 – 37423C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri380 – 40223C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri408 – 43023C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri436 – 45823C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri464 – 48623C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri492 – 51423C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri520 – 54223C2H2-type 10PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00760000118917.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ96SR6.
KOiK09228.
OMAiHNECEKS.
OrthoDBiEOG7KSX7Q.
PhylomeDBiQ96SR6.
TreeFamiTF337898.

Family and domain databases

Gene3Di3.30.160.60. 10 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. 10 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 10 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96SR6-1) [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

        10         20         30         40         50
MPLQGSVSFK DVTVDFTQEE WQQLDPAQKA LYRDVMLENY CHFVSVGFHM
60 70 80 90 100
AKPDMIRKLE QGEELWTQRI FPSYSYLEED GKTEDVLVKF KEYQDRHSRP
110 120 130 140 150
LIFINHKKLI KERSNIYGKT FTLGKNRISK TILCEYKPDG KVLKNISELV
160 170 180 190 200
IRNISPIKEK FGDSTGWEKS LLNTKHEKIH PAVNLHKQTE RVLSGKQELI
210 220 230 240 250
QHQKVQAPEQ PFDHNECEKS FLMKGMLFTH TRAHRGERTF EYNKDGIAFI
260 270 280 290 300
EKSSLSVHPS NLMEKKPSAY NKYGKFLCRK PVFIMPQRPQ TEEKPFHCPY
310 320 330 340 350
CGNNFRRKSY LIEHQRIHTG EKPYVCNQCG KAFRQKTALT LHEKTHIEGK
360 370 380 390 400
PFICIDCGKS FRQKATLTRH HKTHTGEKAY ECPQCGSAFR KKSYLIDHQR
410 420 430 440 450
THTGEKPYQC NECGKAFIQK TTLTVHQRTH TGEKPYICNE CGKSFCQKTT
460 470 480 490 500
LTLHQRIHTG EKPYICNECG KSFRQKAILT VHHRIHTGEK SNGCPQCGKA
510 520 530 540 550
FSRKSNLIRH QKTHTGEKPY ECKQCGKFFS CKSNLIVHQK THKVETTGIQ
Length:550
Mass (Da):64,010
Last modified:November 30, 2010 - v3
Checksum:i6D0706EA069DDD0B
GO
Isoform 2 (identifier: Q96SR6-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MPL → MS

Show »
Length:549
Mass (Da):63,886
Checksum:i7E1ECFED0C1D8816
GO
Isoform 3 (identifier: Q96SR6-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     78-78: Missing.

Note: No experimental confirmation available.

Show »
Length:549
Mass (Da):63,880
Checksum:i6CF371E4DF3F660E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti129 – 1302Missing in AAM48246. (PubMed:12459182)Curated
Sequence conflicti129 – 1302Missing in AAO72308. 1 PublicationCurated
Sequence conflicti129 – 1302Missing in BAB55217. (PubMed:14702039)Curated
Sequence conflicti547 – 5471T → M in AAI32676. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681E → G.2 Publications
Corresponds to variant rs3108171 [ dbSNP | Ensembl ].
VAR_054226

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 33MPL → MS in isoform 2. 1 PublicationVSP_036224
Alternative sequencei78 – 781Missing in isoform 3. 1 PublicationVSP_036225

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF513816 mRNA. Translation: AAM48246.1.
AY227449 mRNA. Translation: AAO72308.1.
AK027592 mRNA. Translation: BAB55217.1.
AL832265 mRNA. Translation: CAI46159.1.
AC074138 Genomic DNA. No translation available.
AC092295 Genomic DNA. No translation available.
BC132675 mRNA. Translation: AAI32676.2.
CCDSiCCDS33004.1. [Q96SR6-1]
CCDS58659.1. [Q96SR6-2]
RefSeqiNP_001243767.1. NM_001256838.1. [Q96SR6-2]
NP_116214.2. NM_032825.4. [Q96SR6-1]
UniGeneiHs.631591.

Genome annotation databases

EnsembliENST00000292928; ENSP00000292928; ENSG00000161298. [Q96SR6-1]
ENST00000435416; ENSP00000410113; ENSG00000161298. [Q96SR6-3]
ENST00000439428; ENSP00000407593; ENSG00000161298. [Q96SR6-2]
GeneIDi84911.
KEGGihsa:84911.
UCSCiuc002oek.4. human. [Q96SR6-1]
uc002oel.3. human. [Q96SR6-3]
uc010efb.4. human. [Q96SR6-2]

Polymorphism databases

DMDMi313104256.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF513816 mRNA. Translation: AAM48246.1 .
AY227449 mRNA. Translation: AAO72308.1 .
AK027592 mRNA. Translation: BAB55217.1 .
AL832265 mRNA. Translation: CAI46159.1 .
AC074138 Genomic DNA. No translation available.
AC092295 Genomic DNA. No translation available.
BC132675 mRNA. Translation: AAI32676.2 .
CCDSi CCDS33004.1. [Q96SR6-1 ]
CCDS58659.1. [Q96SR6-2 ]
RefSeqi NP_001243767.1. NM_001256838.1. [Q96SR6-2 ]
NP_116214.2. NM_032825.4. [Q96SR6-1 ]
UniGenei Hs.631591.

3D structure databases

ProteinModelPortali Q96SR6.
SMRi Q96SR6. Positions 7-49, 210-542.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124348. 3 interactions.
STRINGi 9606.ENSP00000292928.

PTM databases

PhosphoSitei Q96SR6.

Polymorphism databases

DMDMi 313104256.

Proteomic databases

PaxDbi Q96SR6.
PRIDEi Q96SR6.

Protocols and materials databases

DNASUi 84911.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000292928 ; ENSP00000292928 ; ENSG00000161298 . [Q96SR6-1 ]
ENST00000435416 ; ENSP00000410113 ; ENSG00000161298 . [Q96SR6-3 ]
ENST00000439428 ; ENSP00000407593 ; ENSG00000161298 . [Q96SR6-2 ]
GeneIDi 84911.
KEGGi hsa:84911.
UCSCi uc002oek.4. human. [Q96SR6-1 ]
uc002oel.3. human. [Q96SR6-3 ]
uc010efb.4. human. [Q96SR6-2 ]

Organism-specific databases

CTDi 84911.
GeneCardsi GC19P037095.
HGNCi HGNC:17409. ZNF382.
HPAi HPA049259.
MIMi 609516. gene.
neXtProti NX_Q96SR6.
PharmGKBi PA134869965.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
GeneTreei ENSGT00760000118917.
HOGENOMi HOG000234617.
HOVERGENi HBG018163.
InParanoidi Q96SR6.
KOi K09228.
OMAi HNECEKS.
OrthoDBi EOG7KSX7Q.
PhylomeDBi Q96SR6.
TreeFami TF337898.

Enzyme and pathway databases

Reactomei REACT_12627. Generic Transcription Pathway.

Miscellaneous databases

GenomeRNAii 84911.
NextBioi 75296.
PROi Q96SR6.
SOURCEi Search...

Gene expression databases

Bgeei Q96SR6.
CleanExi HS_ZNF382.
ExpressionAtlasi Q96SR6. baseline and differential.
Genevestigatori Q96SR6.

Family and domain databases

Gene3Di 3.30.160.60. 10 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. 10 hits.
[Graphical view ]
SUPFAMi SSF109640. SSF109640. 1 hit.
PROSITEi PS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 10 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression of a novel Kruppel-like zinc-finger gene, ZNF382, in human heart."
    Luo K., Yuan W., Zhu C., Li Y., Wang Y., Zeng W., Jiao W., Liu M., Wu X.
    Biochem. Biophys. Res. Commun. 299:606-612(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Embryonic heart.
  2. Urrutia R., Folch-Puy E., Fernandez-Zapico M.
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "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] (ISOFORM 1).
    Tissue: Teratocarcinoma.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT GLY-168.
    Tissue: Lymph node.
  5. "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].
  6. "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 2), VARIANT GLY-168.
    Tissue: Brain.

Entry informationi

Entry nameiZN382_HUMAN
AccessioniPrimary (citable) accession number: Q96SR6
Secondary accession number(s): A3KMP6
, A8MT55, C9K0V5, Q53ZY8, Q5JPJ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: November 30, 2010
Last modified: October 29, 2014
This is version 118 of the entry and version 3 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3