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Protein

Zinc finger protein 254

Gene

ZNF254

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

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri210 – 232C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri238 – 260C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri266 – 288C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri294 – 316C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri322 – 344C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri350 – 372C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri378 – 400C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri406 – 428C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri434 – 456C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri462 – 484C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri490 – 512C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri518 – 540C2H2-type 12PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri546 – 568C2H2-type 13PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri574 – 596C2H2-type 14PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri602 – 624C2H2-type 15PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

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 254
Alternative name(s):
Bone marrow zinc finger 5
Short name:
BMZF-5
Hematopoietic cell-derived zinc finger protein 1
Short name:
HD-ZNF1
Zinc finger protein 539
Zinc finger protein 91-like
Gene namesi
Name:ZNF254
Synonyms:BMZF5, ZNF539, ZNF91L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:13047. ZNF254.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi9534.
OpenTargetsiENSG00000213096.
PharmGKBiPA37625.

Polymorphism and mutation databases

BioMutaiZNF254.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000474871 – 659Zinc finger protein 254Add BLAST659

Proteomic databases

MaxQBiO75437.
PaxDbiO75437.
PeptideAtlasiO75437.
PRIDEiO75437.

PTM databases

iPTMnetiO75437.
PhosphoSitePlusiO75437.

Expressioni

Gene expression databases

BgeeiENSG00000213096.
CleanExiHS_ZNF254.
ExpressionAtlasiO75437. baseline and differential.
GenevisibleiO75437. HS.

Organism-specific databases

HPAiCAB010157.

Interactioni

Protein-protein interaction databases

BioGridi114910. 5 interactors.
STRINGi9606.ENSP00000349494.

Structurei

3D structure databases

ProteinModelPortaliO75437.
SMRiO75437.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini13 – 84KRABPROSITE-ProRule annotationAdd BLAST72

Sequence similaritiesi

Contains 15 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri210 – 232C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri238 – 260C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri266 – 288C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri294 – 316C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri322 – 344C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri350 – 372C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri378 – 400C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri406 – 428C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri434 – 456C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri462 – 484C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri490 – 512C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri518 – 540C2H2-type 12PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri546 – 568C2H2-type 13PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri574 – 596C2H2-type 14PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri602 – 624C2H2-type 15PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00790000122969.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiO75437.
KOiK09228.
OMAiGKCGKAV.
OrthoDBiEOG091G02KC.
PhylomeDBiO75437.
TreeFamiTF342117.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 16 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.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 15 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 13 hits.
PS50157. ZINC_FINGER_C2H2_2. 15 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: O75437-1) [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
MPGPPRSLEM GLLTFRDVAI EFSLEEWQHL DIAQQNLYRN VMLENYRNLA
60 70 80 90 100
FLGIAVSKPD LITCLEQGKE PWNMKRHEMV DEPPGMCPHF AQDLWPEQGM
110 120 130 140 150
EDSFQKAILR RYGKYGHENL QLRKGCKSVD EYKVNKEGYN GLNQCFTTAQ
160 170 180 190 200
SKVFQCDKYL KVFYKFLNSN RPKIRHTEKK SFKCKKRVKL FCMLSHKTQH
210 220 230 240 250
KSIYHREKSY KCKECGKTFN WSSTLTNHRK IYTEEKPYKC EEYNKSPKQL
260 270 280 290 300
STLTTHEIIH AGEKLYKCEE CGEAFNRSSN LTTHKIIHTG EKPYKCEECG
310 320 330 340 350
KAFIWSSTLT EHKKIHTRKK PYKCEECGKA FIWSSTLTRH KRMHTGEKPY
360 370 380 390 400
KCEECGKAFS QSSTLTTHKI IHTGEKRYKC LECGKAFKQL STLTTHKIIH
410 420 430 440 450
VGEKLYKCEE CGKGFNRSSN LTTHKIIHTG EKPYKCEECG KAFIWSSTLT
460 470 480 490 500
KHKRIHTREK PYKCEECGKA FIWSSTLTRH KRMHTGEKPY KCEECGKSFS
510 520 530 540 550
QSSTLTTHKI IHTGEKPYKC EECGKAFNWS STLTKHKIIH TEEKPYKCEK
560 570 580 590 600
CGKAFKQSSI LTNHKRIHTG EKPYKCEECG KSFNRSSTFT KHKVIHTGVK
610 620 630 640 650
PYKCEECGKA FFWSSTLTKH KRIHTGEQPY KWEKFGKAFN RSSHLTTDKI

THWREILQV
Length:659
Mass (Da):77,160
Last modified:November 25, 2008 - v3
Checksum:i82E89E6715D96394
GO
Isoform 2 (identifier: O75437-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     280-587: Missing.

Show »
Length:351
Mass (Da):41,538
Checksum:iDAD54AF67576BBCF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti273E → K in AAC39913 (PubMed:9653160).Curated1
Sequence conflicti653 – 659WREILQV → TGEKSYKYE in AAC39913 (PubMed:9653160).Curated7

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04746193D → G.1 PublicationCorresponds to variant rs17854260dbSNPEnsembl.1
Natural variantiVAR_047462386A → T.Corresponds to variant rs403356dbSNPEnsembl.1
Natural variantiVAR_047463457T → A.Corresponds to variant rs2925930dbSNPEnsembl.1
Natural variantiVAR_059906537K → N.1 PublicationCorresponds to variant rs12611425dbSNPEnsembl.1
Natural variantiVAR_047464594V → I.Corresponds to variant rs2446056dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022010280 – 587Missing in isoform 2. 1 PublicationAdd BLAST308

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF054180 mRNA. Translation: AAC39913.1.
CH471106 Genomic DNA. Translation: EAW84960.1.
BC043147 mRNA. Translation: AAH43147.2.
BC139749 mRNA. Translation: AAI39750.1.
CCDSiCCDS32983.1. [O75437-1]
RefSeqiNP_975011.3. NM_203282.3. [O75437-1]
UniGeneiHs.434406.
Hs.729302.

Genome annotation databases

EnsembliENST00000357002; ENSP00000349494; ENSG00000213096. [O75437-1]
GeneIDi9534.
KEGGihsa:9534.
UCSCiuc002nru.5. human. [O75437-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF054180 mRNA. Translation: AAC39913.1.
CH471106 Genomic DNA. Translation: EAW84960.1.
BC043147 mRNA. Translation: AAH43147.2.
BC139749 mRNA. Translation: AAI39750.1.
CCDSiCCDS32983.1. [O75437-1]
RefSeqiNP_975011.3. NM_203282.3. [O75437-1]
UniGeneiHs.434406.
Hs.729302.

3D structure databases

ProteinModelPortaliO75437.
SMRiO75437.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114910. 5 interactors.
STRINGi9606.ENSP00000349494.

PTM databases

iPTMnetiO75437.
PhosphoSitePlusiO75437.

Polymorphism and mutation databases

BioMutaiZNF254.

Proteomic databases

MaxQBiO75437.
PaxDbiO75437.
PeptideAtlasiO75437.
PRIDEiO75437.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357002; ENSP00000349494; ENSG00000213096. [O75437-1]
GeneIDi9534.
KEGGihsa:9534.
UCSCiuc002nru.5. human. [O75437-1]

Organism-specific databases

CTDi9534.
DisGeNETi9534.
GeneCardsiZNF254.
HGNCiHGNC:13047. ZNF254.
HPAiCAB010157.
MIMi604768. gene.
neXtProtiNX_O75437.
OpenTargetsiENSG00000213096.
PharmGKBiPA37625.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00790000122969.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiO75437.
KOiK09228.
OMAiGKCGKAV.
OrthoDBiEOG091G02KC.
PhylomeDBiO75437.
TreeFamiTF342117.

Enzyme and pathway databases

ReactomeiR-HSA-212436. Generic Transcription Pathway.

Miscellaneous databases

ChiTaRSiZNF254. human.
GenomeRNAii9534.
PROiO75437.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213096.
CleanExiHS_ZNF254.
ExpressionAtlasiO75437. baseline and differential.
GenevisibleiO75437. HS.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 16 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.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 15 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 13 hits.
PS50157. ZINC_FINGER_C2H2_2. 15 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN254_HUMAN
AccessioniPrimary (citable) accession number: O75437
Secondary accession number(s): A4QPC0, Q86XL7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: November 25, 2008
Last modified: November 2, 2016
This is version 155 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

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.