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Protein

Zinc finger protein 148

Gene

ZNF148

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

Functioni

Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri171 – 193C2H2-type 1Add BLAST23
Zinc fingeri199 – 221C2H2-type 2Add BLAST23
Zinc fingeri227 – 249C2H2-type 3Add BLAST23
Zinc fingeri255 – 278C2H2-type 4Add BLAST24

GO - Molecular functioni

GO - Biological processi

  • cellular defense response Source: ProtInc
  • gamete generation Source: Ensembl
  • negative regulation of gene expression Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • protein complex assembly Source: Ensembl
  • substantia nigra development Source: UniProtKB
  • transcription from RNA polymerase II promoter Source: ProtInc

Keywordsi

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

Enzyme and pathway databases

SignaLinkiQ9UQR1.
SIGNORiQ9UQR1.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 148
Alternative name(s):
Transcription factor ZBP-89
Zinc finger DNA-binding protein 89
Gene namesi
Name:ZNF148
Synonyms:ZBP89
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163848.18.
HGNCiHGNC:12933. ZNF148.

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

Involvement in diseasei

Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations.
See also OMIM:617260

Keywords - Diseasei

Dwarfism, Mental retardation

Organism-specific databases

DisGeNETi7707.
MIMi617260. phenotype.
OpenTargetsiENSG00000163848.
PharmGKBiPA37520.

Polymorphism and mutation databases

BioMutaiZNF148.
DMDMi12643385.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000474271 – 794Zinc finger protein 148Add BLAST794

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki6Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei51PhosphoserineBy similarity1
Cross-linki88Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki115Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki132Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei194PhosphothreonineCombined sources1
Modified residuei250PhosphoserineCombined sources1
Cross-linki291Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei301PhosphoserineBy similarity1
Modified residuei306PhosphoserineCombined sources1
Cross-linki308Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki356Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki356Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki402Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei412PhosphoserineCombined sources1
Cross-linki421Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki424Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei607N6-acetyllysineCombined sources1
Modified residuei665PhosphoserineCombined sources1
Modified residuei784PhosphoserineCombined sources1

Post-translational modificationi

Sumoylated with SUMO2. Desumoylated by SENP3, resulting in the stimulation of transcription of its target genes (By similarity).By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9UQR1.
PaxDbiQ9UQR1.
PeptideAtlasiQ9UQR1.
PRIDEiQ9UQR1.

PTM databases

iPTMnetiQ9UQR1.
PhosphoSitePlusiQ9UQR1.

Expressioni

Gene expression databases

BgeeiENSG00000163848.
CleanExiHS_ZNF148.
ExpressionAtlasiQ9UQR1. baseline and differential.
GenevisibleiQ9UQR1. HS.

Organism-specific databases

HPAiCAB017486.
HPA001656.

Interactioni

Subunit structurei

Interacts with HNRNPDL (PubMed:15190078). Interacts with the 5FMC complex; the interaction requires association with CHTOP. Interacts with CAVIN1 (By similarity).By similarity1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi113501. 25 interactors.
IntActiQ9UQR1. 29 interactors.
STRINGi9606.ENSP00000353863.

Structurei

3D structure databases

ProteinModelPortaliQ9UQR1.
SMRiQ9UQR1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri171 – 193C2H2-type 1Add BLAST23
Zinc fingeri199 – 221C2H2-type 2Add BLAST23
Zinc fingeri227 – 249C2H2-type 3Add BLAST23
Zinc fingeri255 – 278C2H2-type 4Add BLAST24

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00530000063238.
HOGENOMiHOG000143445.
HOVERGENiHBG054247.
InParanoidiQ9UQR1.
OMAiEMISHDE.
OrthoDBiEOG091G02EU.
PhylomeDBiQ9UQR1.
TreeFamiTF331779.

Family and domain databases

InterProiView protein in InterPro
IPR036236. Znf_C2H2_sf.
IPR013087. Znf_C2H2_type.
SMARTiView protein in SMART
SM00355. ZnF_C2H2. 4 hits.
SUPFAMiSSF57667. SSF57667. 2 hits.
PROSITEiView protein in PROSITE
PS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9UQR1-1) [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
MNIDDKLEGL FLKCGGIDEM QSSRTMVVMG GVSGQSTVSG ELQDSVLQDR
60 70 80 90 100
SMPHQEILAA DEVLQESEMR QQDMISHDEL MVHEETVKND EEQMETHERL
110 120 130 140 150
PQGLQYALNV PISVKQEITF TDVSEQLMRD KKQIREPVDL QKKKKRKQRS
160 170 180 190 200
PAKILTINED GSLGLKTPKS HVCEHCNAAF RTNYHLQRHV FIHTGEKPFQ
210 220 230 240 250
CSQCDMRFIQ KYLLQRHEKI HTGEKPFRCD ECGMRFIQKY HMERHKRTHS
260 270 280 290 300
GEKPYQCEYC LQYFSRTDRV LKHKRMCHEN HDKKLNRCAI KGGLLTSEED
310 320 330 340 350
SGFSTSPKDN SLPKKKRQKT EKKSSGMDKE SALDKSDLKK DKNDYLPLYS
360 370 380 390 400
SSTKVKDEYM VAEYAVEMPH SSVGGSHLED ASGEIHPPKL VLKKINSKRS
410 420 430 440 450
LKQPLEQNQT ISPLSTYEES KVSKYAFELV DKQALLDSEG NADIDQVDNL
460 470 480 490 500
QEGPSKPVHS STNYDDAMQF LKKKRYLQAA SNNSREYALN VGTIASQPSV
510 520 530 540 550
TQAAVASVID ESTTASILES QALNVEIKSN HDKNVIPDEV LQTLLDHYSH
560 570 580 590 600
KANGQHEISF SVADTEVTSS ISINSSEVPE VTPSENVGSS SQASSSDKAN
610 620 630 640 650
MLQEYSKFLQ QALDRTSQND AYLNSPSLNF VTDNQTLPNQ PAFSSIDKQV
660 670 680 690 700
YATMPINSFR SGMNSPLRTT PDKSHFGLIV GDSQHSFPFS GDETNHASAT
710 720 730 740 750
STQDFLDQVT SQKKAEAQPV HQAYQMSSFE QPFRAPYHGS RAGIATQFST
760 770 780 790
ANGQVNLRGP GTSAEFSEFP LVNVNDNRAG MTSSPDATTG QTFG
Length:794
Mass (Da):88,976
Last modified:January 24, 2001 - v2
Checksum:i50413723459EBD1F
GO
Isoform 2 (identifier: Q9UQR1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-205: Missing.
     233-690: Missing.

Note: No experimental confirmation available.
Show »
Length:131
Mass (Da):14,473
Checksum:iCD38D10B58EE1E1E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti287R → T in CAA15422 (PubMed:10359087).Curated1
Sequence conflicti348L → V in CAA15422 (PubMed:10359087).Curated1
Sequence conflicti379E → K in AAB57692 (Ref. 6) Curated1
Sequence conflicti495A → R in CAA15422 (PubMed:10359087).Curated1
Sequence conflicti616T → N in AAB57692 (Ref. 6) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0559381 – 205Missing in isoform 2. 1 PublicationAdd BLAST205
Alternative sequenceiVSP_055939233 – 690Missing in isoform 2. 1 PublicationAdd BLAST458

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039019 mRNA. Translation: AAC39926.1.
AJ236885 mRNA. Translation: CAA15422.1.
AC108688 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79394.1.
CH471052 Genomic DNA. Translation: EAW79395.1.
CH471052 Genomic DNA. Translation: EAW79396.1.
CH471052 Genomic DNA. Translation: EAW79398.1.
BC018971 mRNA. Translation: AAH18971.1.
BC050260 mRNA. Translation: AAH50260.1.
U96633 Genomic DNA. Translation: AAB57692.1.
CCDSiCCDS3031.1. [Q9UQR1-1]
RefSeqiNP_001335353.1. NM_001348424.1. [Q9UQR1-1]
NP_001335354.1. NM_001348425.1. [Q9UQR1-1]
NP_001335355.1. NM_001348426.1. [Q9UQR1-1]
NP_001335356.1. NM_001348427.1. [Q9UQR1-1]
NP_001335357.1. NM_001348428.1. [Q9UQR1-1]
NP_001335358.1. NM_001348429.1. [Q9UQR1-1]
NP_001335359.1. NM_001348430.1. [Q9UQR1-1]
NP_001335360.1. NM_001348431.1. [Q9UQR1-1]
NP_001335361.1. NM_001348432.1. [Q9UQR1-1]
NP_001335362.1. NM_001348433.1. [Q9UQR1-1]
NP_068799.2. NM_021964.2. [Q9UQR1-1]
UniGeneiHs.592591.
Hs.717939.

Genome annotation databases

EnsembliENST00000360647; ENSP00000353863; ENSG00000163848. [Q9UQR1-1]
ENST00000484491; ENSP00000420335; ENSG00000163848. [Q9UQR1-1]
ENST00000485866; ENSP00000420448; ENSG00000163848. [Q9UQR1-1]
ENST00000492394; ENSP00000419322; ENSG00000163848. [Q9UQR1-1]
GeneIDi7707.
KEGGihsa:7707.
UCSCiuc003ehx.5. human. [Q9UQR1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiZN148_HUMAN
AccessioniPrimary (citable) accession number: Q9UQR1
Secondary accession number(s): D3DN27
, O00389, O43591, Q58EY5, Q6PJ98
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: January 24, 2001
Last modified: November 22, 2017
This is version 164 of the entry and version 2 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

Documents

  1. Human chromosome 3
    Human chromosome 3: 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