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Protein

Zinc finger protein 248

Gene

ZNF248

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri240 – 264C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST25
Zinc fingeri380 – 402C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri408 – 430C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri436 – 458C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri464 – 486C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri492 – 514C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri520 – 543C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri548 – 570C2H2-type 8PROSITE-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

BioCyciZFISH:G66-32849-MONOMER.
ReactomeiR-HSA-212436. Generic Transcription Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 248
Gene namesi
Name:ZNF248
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:13041. ZNF248.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi57209.
OpenTargetsiENSG00000198105.
PharmGKBiPA37619.

Polymorphism and mutation databases

BioMutaiZNF248.
DMDMi47606299.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000474821 – 579Zinc finger protein 248Add BLAST579

Proteomic databases

MaxQBiQ8NDW4.
PaxDbiQ8NDW4.
PeptideAtlasiQ8NDW4.
PRIDEiQ8NDW4.

PTM databases

iPTMnetiQ8NDW4.
PhosphoSitePlusiQ8NDW4.

Expressioni

Gene expression databases

BgeeiENSG00000198105.
CleanExiHS_ZNF248.
ExpressionAtlasiQ8NDW4. baseline and differential.
GenevisibleiQ8NDW4. HS.

Organism-specific databases

HPAiHPA018237.
HPA018287.
HPA018455.

Interactioni

Protein-protein interaction databases

BioGridi121447. 1 interactor.
IntActiQ8NDW4. 1 interactor.
STRINGi9606.ENSP00000349882.

Structurei

3D structure databases

ProteinModelPortaliQ8NDW4.
SMRiQ8NDW4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 79KRABPROSITE-ProRule annotationAdd BLAST72

Sequence similaritiesi

Contains 8 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri240 – 264C2H2-type 1; degeneratePROSITE-ProRule annotationAdd BLAST25
Zinc fingeri380 – 402C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri408 – 430C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri436 – 458C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri464 – 486C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri492 – 514C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri520 – 543C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri548 – 570C2H2-type 8PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00860000133681.
HOGENOMiHOG000231475.
HOVERGENiHBG018163.
InParanoidiQ8NDW4.
KOiK09228.
OMAiKHQIVHM.
OrthoDBiEOG091G02KC.
PhylomeDBiQ8NDW4.
TreeFamiTF337898.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 9 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. 5 hits.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 7 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8NDW4-1) [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
MNKSQEQVSF KDVCVDFTQE EWYLLDPAQK ILYRDVILEN YSNLVSVGYC
60 70 80 90 100
ITKPEVIFKI EQGEEPWILE KGFPSQCHPE RKWKVDDVLE SSQENEDDHF
110 120 130 140 150
WELLFHNNKT VSVENGDRGS KTFNLGTDPV SLRNYPYKIC DSCEMNLKNI
160 170 180 190 200
SGLIISKKNC SRKKPDEFNV CEKLLLDIRH EKIPIGEKSY KYDQKRNAIN
210 220 230 240 250
YHQDLSQPSF GQSFEYSKNG QGFHDEAAFF TNKRSQIGET VCKYNECGRT
260 270 280 290 300
FIESLKLNIS QRPHLEMEPY GCSICGKSFC MNLRFGHQRA LTKDNPYEYN
310 320 330 340 350
EYGEIFCDNS AFIIHQGAYT RKILREYKVS DKTWEKSALL KHQIVHMGGK
360 370 380 390 400
SYDYNENGSN FSKKSHLTQL RRAHTGEKTF ECGECGKTFW EKSNLTQHQR
410 420 430 440 450
THTGEKPYEC TECGKAFCQK PHLTNHQRTH TGEKPYECKQ CGKTFCVKSN
460 470 480 490 500
LTEHQRTHTG EKPYECNACG KSFCHRSALT VHQRTHTGEK PFICNECGKS
510 520 530 540 550
FCVKSNLIVH QRTHTGEKPY KCNECGKTFC EKSALTKHQR THTGEKPYEC
560 570
NACGKTFSQR SVLTKHQRIH TRVKALSTS
Length:579
Mass (Da):67,087
Last modified:October 1, 2002 - v1
Checksum:i3BB9B20FDFC9A879
GO
Isoform 2 (identifier: Q8NDW4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     111-579: VSVENGDRGS...HTRVKALSTS → WNLKLIKVE

Show »
Length:119
Mass (Da):14,281
Checksum:i5E987E3C2513E9F3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052800218K → E.Corresponds to variant rs11011379dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045321111 – 579VSVEN…ALSTS → WNLKLIKVE in isoform 2. 2 PublicationsAdd BLAST469

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ491695 mRNA. Translation: CAD36954.1.
AJ492196 mRNA. Translation: CAD37332.1.
AJ245587 Genomic DNA. Translation: CAB52547.1.
AL135791 Genomic DNA. Translation: CAI12320.1.
CH471072 Genomic DNA. Translation: EAW85897.1.
CH471072 Genomic DNA. Translation: EAW85899.1.
BC110869 mRNA. Translation: AAI10870.1.
BC146820 mRNA. Translation: AAI46821.1.
CCDSiCCDS58077.1. [Q8NDW4-2]
CCDS7194.1. [Q8NDW4-1]
RefSeqiNP_001254526.1. NM_001267597.1. [Q8NDW4-1]
NP_001254534.1. NM_001267605.1. [Q8NDW4-2]
NP_001254535.1. NM_001267606.1. [Q8NDW4-2]
NP_066383.1. NM_021045.2. [Q8NDW4-1]
XP_006717548.1. XM_006717485.3. [Q8NDW4-1]
XP_011517899.1. XM_011519597.2. [Q8NDW4-1]
XP_011517900.1. XM_011519598.2. [Q8NDW4-2]
XP_011517901.1. XM_011519599.1. [Q8NDW4-2]
XP_011517902.1. XM_011519600.2. [Q8NDW4-2]
XP_016871934.1. XM_017016445.1. [Q8NDW4-1]
XP_016871935.1. XM_017016446.1. [Q8NDW4-1]
XP_016871939.1. XM_017016450.1. [Q8NDW4-2]
UniGeneiHs.528423.
Hs.554047.
Hs.742118.

Genome annotation databases

EnsembliENST00000357328; ENSP00000349882; ENSG00000198105. [Q8NDW4-1]
ENST00000374648; ENSP00000363778; ENSG00000198105. [Q8NDW4-2]
ENST00000395867; ENSP00000379208; ENSG00000198105. [Q8NDW4-1]
ENST00000611278; ENSP00000484191; ENSG00000198105. [Q8NDW4-2]
GeneIDi57209.
KEGGihsa:57209.
UCSCiuc001izc.5. human. [Q8NDW4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ491695 mRNA. Translation: CAD36954.1.
AJ492196 mRNA. Translation: CAD37332.1.
AJ245587 Genomic DNA. Translation: CAB52547.1.
AL135791 Genomic DNA. Translation: CAI12320.1.
CH471072 Genomic DNA. Translation: EAW85897.1.
CH471072 Genomic DNA. Translation: EAW85899.1.
BC110869 mRNA. Translation: AAI10870.1.
BC146820 mRNA. Translation: AAI46821.1.
CCDSiCCDS58077.1. [Q8NDW4-2]
CCDS7194.1. [Q8NDW4-1]
RefSeqiNP_001254526.1. NM_001267597.1. [Q8NDW4-1]
NP_001254534.1. NM_001267605.1. [Q8NDW4-2]
NP_001254535.1. NM_001267606.1. [Q8NDW4-2]
NP_066383.1. NM_021045.2. [Q8NDW4-1]
XP_006717548.1. XM_006717485.3. [Q8NDW4-1]
XP_011517899.1. XM_011519597.2. [Q8NDW4-1]
XP_011517900.1. XM_011519598.2. [Q8NDW4-2]
XP_011517901.1. XM_011519599.1. [Q8NDW4-2]
XP_011517902.1. XM_011519600.2. [Q8NDW4-2]
XP_016871934.1. XM_017016445.1. [Q8NDW4-1]
XP_016871935.1. XM_017016446.1. [Q8NDW4-1]
XP_016871939.1. XM_017016450.1. [Q8NDW4-2]
UniGeneiHs.528423.
Hs.554047.
Hs.742118.

3D structure databases

ProteinModelPortaliQ8NDW4.
SMRiQ8NDW4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121447. 1 interactor.
IntActiQ8NDW4. 1 interactor.
STRINGi9606.ENSP00000349882.

PTM databases

iPTMnetiQ8NDW4.
PhosphoSitePlusiQ8NDW4.

Polymorphism and mutation databases

BioMutaiZNF248.
DMDMi47606299.

Proteomic databases

MaxQBiQ8NDW4.
PaxDbiQ8NDW4.
PeptideAtlasiQ8NDW4.
PRIDEiQ8NDW4.

Protocols and materials databases

DNASUi57209.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357328; ENSP00000349882; ENSG00000198105. [Q8NDW4-1]
ENST00000374648; ENSP00000363778; ENSG00000198105. [Q8NDW4-2]
ENST00000395867; ENSP00000379208; ENSG00000198105. [Q8NDW4-1]
ENST00000611278; ENSP00000484191; ENSG00000198105. [Q8NDW4-2]
GeneIDi57209.
KEGGihsa:57209.
UCSCiuc001izc.5. human. [Q8NDW4-1]

Organism-specific databases

CTDi57209.
DisGeNETi57209.
GeneCardsiZNF248.
HGNCiHGNC:13041. ZNF248.
HPAiHPA018237.
HPA018287.
HPA018455.
neXtProtiNX_Q8NDW4.
OpenTargetsiENSG00000198105.
PharmGKBiPA37619.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00860000133681.
HOGENOMiHOG000231475.
HOVERGENiHBG018163.
InParanoidiQ8NDW4.
KOiK09228.
OMAiKHQIVHM.
OrthoDBiEOG091G02KC.
PhylomeDBiQ8NDW4.
TreeFamiTF337898.

Enzyme and pathway databases

BioCyciZFISH:G66-32849-MONOMER.
ReactomeiR-HSA-212436. Generic Transcription Pathway.

Miscellaneous databases

ChiTaRSiZNF248. human.
GenomeRNAii57209.
PROiQ8NDW4.

Gene expression databases

BgeeiENSG00000198105.
CleanExiHS_ZNF248.
ExpressionAtlasiQ8NDW4. baseline and differential.
GenevisibleiQ8NDW4. HS.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
Gene3Di3.30.160.60. 9 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. 5 hits.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 7 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 7 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZN248_HUMAN
AccessioniPrimary (citable) accession number: Q8NDW4
Secondary accession number(s): Q8NDV8, Q9UMP3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: October 1, 2002
Last modified: November 30, 2016
This is version 126 of the entry and version 1 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 10
    Human chromosome 10: 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

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.