Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Zinc finger protein 148

Gene

ZNF148

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri199 – 221C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri227 – 249C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri255 – 278C2H2-type 4PROSITE-ProRule annotationAdd 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 by RNA polymerase II Source: NTNU_SB
  • positive regulation of transcription by RNA polymerase II Source: Ensembl
  • protein-containing complex assembly Source: Ensembl
  • substantia nigra development Source: UniProtKB
  • transcription by RNA polymerase II 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
MIMi601897 gene
neXtProtiNX_Q9UQR1

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
MalaCardsiZNF148
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); alternateCombined sources
Cross-linki356Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined 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, 26 interactors
IntActiQ9UQR1, 29 interactors
MINTiQ9UQR1
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 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri199 – 221C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri227 – 249C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri255 – 278C2H2-type 4PROSITE-ProRule annotationAdd 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: May 23, 2018
This is version 169 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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health