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Protein

Zinc finger protein 253

Gene

ZNF253

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

Functioni

May function as a transcription factor. Seem to have a transcriptional repression activity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri172 – 19423C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri200 – 22223C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri228 – 25023C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri256 – 27823C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri284 – 30623C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri312 – 33423C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri340 – 36223C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri368 – 39023C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri396 – 41823C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri424 – 44623C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri452 – 47423C2H2-type 11PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • 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

ReactomeiR-HSA-212436. Generic Transcription Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 253
Alternative name(s):
Bone marrow zinc finger 1
Short name:
BMZF-1
Zinc finger protein 411
Gene namesi
Name:ZNF253
Synonyms:BMZF1, ZNF411
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:13497. ZNF253.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37785.

Polymorphism and mutation databases

BioMutaiZNF253.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 499499Zinc finger protein 253PRO_0000047486Add
BLAST

Proteomic databases

PaxDbiO75346.
PeptideAtlasiO75346.
PRIDEiO75346.

PTM databases

iPTMnetiO75346.
PhosphoSiteiO75346.

Expressioni

Tissue specificityi

Expressed in bone marrow and in monocytic and immature erythroid cell lines.

Gene expression databases

BgeeiENSG00000256771.
CleanExiHS_ZNF253.
ExpressionAtlasiO75346. baseline and differential.
GenevisibleiO75346. HS.

Interactioni

Protein-protein interaction databases

IntActiO75346. 3 interactions.
MINTiMINT-1216558.
STRINGi9606.ENSP00000468720.

Structurei

3D structure databases

ProteinModelPortaliO75346.
SMRiO75346. Positions 130-480.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 7572KRABPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 11 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri172 – 19423C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri200 – 22223C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri228 – 25023C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri256 – 27823C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri284 – 30623C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri312 – 33423C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri340 – 36223C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri368 – 39023C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri396 – 41823C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri424 – 44623C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri452 – 47423C2H2-type 11PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00790000122969.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiO75346.
KOiK09228.
OMAiTTLFSHE.
OrthoDBiEOG091G02KC.
PhylomeDBiO75346.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 11 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 3 hits.
PF13912. zf-C2H2_6. 3 hits.
[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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75346-1) [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
MGPLQFRDVA IEFSLEEWHC LDTAQRNLYR DVMLENYRNL VFLGIVVSKP
60 70 80 90 100
DLVTCLEQGK KPLTMERHEM IAKPPVMSSH FAQDLWPENI QNSFQIGMLR
110 120 130 140 150
RYEECRHDNL QLKKGCKSVG EHKVHKGGYN GLNQCLTTTQ KEIFQCDKYG
160 170 180 190 200
KVFHKFSNSN TYKTRHTGIN LFKCIICGKA FKRSSTLTTH KKIHTGEKPY
210 220 230 240 250
RCEECGKAFN QSANLTTHKR IHTGEKPYRC EECGKAFKQS SNLTTHKKIH
260 270 280 290 300
TGEKPYKCEE CGKAFNRSTD LTTHKIVHTG EKPYKCEECG KAFKHPSHVT
310 320 330 340 350
THKKIHTRGK PYNCEECGKS FKHCSNLTIH KRIHTGEKPY KCEECGKAFH
360 370 380 390 400
LSSHLTTHKI LHTGEKPYRC RECGKAFNHS TTLFSHEKIH TGEKPYKCDE
410 420 430 440 450
CGKTFTWPSI LSKHKRTHTG EKPYKCEECG KSFTASSTLT THKRIHTGEK
460 470 480 490
PYKCEECGKA FNWSSDLNKH KKIHIERKPY IVKNVTDLLN VPPLLISIR
Length:499
Mass (Da):57,602
Last modified:May 5, 2009 - v2
Checksum:i783F3352A58AC767
GO
Isoform 2 (identifier: O75346-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: Missing.

Show »
Length:423
Mass (Da):48,746
Checksum:iE2F26598CB121698
GO

Sequence cautioni

The sequence AAH14148 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAC11257 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti220 – 443224Missing in AAC26844 (PubMed:10585455).CuratedAdd
BLAST
Sequence conflicti286 – 31328Missing in BAC11185 (PubMed:14702039).CuratedAdd
BLAST
Sequence conflicti371 – 3711R → I in BAC11185 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7676Missing in isoform 2. 1 PublicationVSP_036962Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF038951 mRNA. Translation: AAC26844.1.
AK074757 mRNA. Translation: BAC11185.1.
AK074872 mRNA. Translation: BAC11257.1. Different initiation.
AC011477 Genomic DNA. No translation available.
BC014148 mRNA. Translation: AAH14148.2. Different initiation.
BC065572 mRNA. Translation: AAH65572.1.
BC125063 mRNA. Translation: AAI25064.1.
BC125064 mRNA. Translation: AAI25065.1.
CCDSiCCDS42532.1. [O75346-1]
RefSeqiNP_066385.2. NM_021047.2. [O75346-1]
UniGeneiHs.301059.

Genome annotation databases

EnsembliENST00000355650; ENSP00000347868; ENSG00000256771. [O75346-2]
ENST00000589717; ENSP00000468720; ENSG00000256771. [O75346-1]
GeneIDi56242.
KEGGihsa:56242.
UCSCiuc002noj.4. human. [O75346-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF038951 mRNA. Translation: AAC26844.1.
AK074757 mRNA. Translation: BAC11185.1.
AK074872 mRNA. Translation: BAC11257.1. Different initiation.
AC011477 Genomic DNA. No translation available.
BC014148 mRNA. Translation: AAH14148.2. Different initiation.
BC065572 mRNA. Translation: AAH65572.1.
BC125063 mRNA. Translation: AAI25064.1.
BC125064 mRNA. Translation: AAI25065.1.
CCDSiCCDS42532.1. [O75346-1]
RefSeqiNP_066385.2. NM_021047.2. [O75346-1]
UniGeneiHs.301059.

3D structure databases

ProteinModelPortaliO75346.
SMRiO75346. Positions 130-480.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiO75346. 3 interactions.
MINTiMINT-1216558.
STRINGi9606.ENSP00000468720.

PTM databases

iPTMnetiO75346.
PhosphoSiteiO75346.

Polymorphism and mutation databases

BioMutaiZNF253.

Proteomic databases

PaxDbiO75346.
PeptideAtlasiO75346.
PRIDEiO75346.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355650; ENSP00000347868; ENSG00000256771. [O75346-2]
ENST00000589717; ENSP00000468720; ENSG00000256771. [O75346-1]
GeneIDi56242.
KEGGihsa:56242.
UCSCiuc002noj.4. human. [O75346-1]

Organism-specific databases

CTDi56242.
GeneCardsiZNF253.
HGNCiHGNC:13497. ZNF253.
MIMi606954. gene.
neXtProtiNX_O75346.
PharmGKBiPA37785.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00790000122969.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiO75346.
KOiK09228.
OMAiTTLFSHE.
OrthoDBiEOG091G02KC.
PhylomeDBiO75346.

Enzyme and pathway databases

ReactomeiR-HSA-212436. Generic Transcription Pathway.

Miscellaneous databases

GenomeRNAii56242.
PROiO75346.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000256771.
CleanExiHS_ZNF253.
ExpressionAtlasiO75346. baseline and differential.
GenevisibleiO75346. HS.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 11 hits.
InterProiIPR001909. KRAB.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
PF00096. zf-C2H2. 3 hits.
PF13912. zf-C2H2_6. 3 hits.
[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]
ProtoNetiSearch...

Entry informationi

Entry nameiZN253_HUMAN
AccessioniPrimary (citable) accession number: O75346
Secondary accession number(s): A4FVA7
, Q0P6G3, Q6P0L2, Q8NCA3, Q8NCF9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 5, 2009
Last modified: September 7, 2016
This is version 137 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 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.