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Protein

Zinc finger protein 248

Gene

ZNF248

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein 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

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000198105.11
HGNCiHGNC:13041 ZNF248
neXtProtiNX_Q8NDW4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki341Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

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, 9 interactors
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

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
GeneTreeiENSGT00900000140826
HOGENOMiHOG000231475
HOVERGENiHBG018163
InParanoidiQ8NDW4
KOiK09228
OMAiKHQIVHM
OrthoDBiEOG091G02KC
PhylomeDBiQ8NDW4
TreeFamiTF337898

Family and domain databases

CDDicd07765 KRAB_A-box, 1 hit
InterProiView protein in InterPro
IPR001909 KRAB
IPR036051 KRAB_dom_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF01352 KRAB, 1 hit
SMARTiView protein in SMART
SM00349 KRAB, 1 hit
SM00355 ZnF_C2H2, 7 hits
SUPFAMiSSF109640 SSF109640, 1 hit
SSF57667 SSF57667, 7 hits
PROSITEiView protein in PROSITE
PS50805 KRAB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 7 hits
PS50157 ZINC_FINGER_C2H2_2, 8 hits

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 dbSNP:rs11011379Ensembl.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 No translation available.
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
XP_011517899.1, XM_011519597.2
XP_011517900.1, XM_011519598.2
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
XP_016871939.1, XM_017016450.1
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

Similar proteinsi

Entry informationi

Entry nameiZN248_HUMAN
AccessioniPrimary (citable) accession number: Q8NDW4
Secondary accession number(s): Q8NDV8, Q9UMP3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: October 1, 2002
Last modified: May 23, 2018
This is version 136 of the entry and version 1 of the sequence. See 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

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