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Protein

Zinc finger protein 48

Gene

ZNF48

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

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri112 – 134C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri140 – 162C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri192 – 214C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri220 – 242C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri275 – 297C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri303 – 325C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri331 – 353C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri359 – 381C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri451 – 473C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri479 – 501C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri543 – 565C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri571 – 593C2H2-type 12PROSITE-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:ENSG00000180035-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 48
Alternative name(s):
Zinc finger protein 553
Gene namesi
Name:ZNF48
Synonyms:ZNF553
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:13114. ZNF48.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000180035.
PharmGKBiPA37689.

Polymorphism and mutation databases

BioMutaiZNF48.
DMDMi296453060.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002345861 – 618Zinc finger protein 48Add BLAST618

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1
Cross-linki610Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ96MX3.
MaxQBiQ96MX3.
PaxDbiQ96MX3.
PeptideAtlasiQ96MX3.
PRIDEiQ96MX3.
TopDownProteomicsiQ96MX3.

PTM databases

iPTMnetiQ96MX3.
PhosphoSitePlusiQ96MX3.

Expressioni

Gene expression databases

BgeeiENSG00000180035.
CleanExiHS_ZNF48.
ExpressionAtlasiQ96MX3. baseline and differential.
GenevisibleiQ96MX3. HS.

Organism-specific databases

HPAiHPA023806.

Interactioni

Protein-protein interaction databases

BioGridi128257. 7 interactors.
IntActiQ96MX3. 7 interactors.
STRINGi9606.ENSP00000324056.

Structurei

3D structure databases

ProteinModelPortaliQ96MX3.
SMRiQ96MX3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi390 – 542Pro-richAdd BLAST153

Sequence similaritiesi

Contains 12 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri112 – 134C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri140 – 162C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri192 – 214C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri220 – 242C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri275 – 297C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri303 – 325C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri331 – 353C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri359 – 381C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri451 – 473C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri479 – 501C2H2-type 10PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri543 – 565C2H2-type 11PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri571 – 593C2H2-type 12PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00740000115670.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ96MX3.
OMAiMEPQDFG.
OrthoDBiEOG091G02KC.
PhylomeDBiQ96MX3.
TreeFamiTF338489.

Family and domain databases

Gene3Di3.30.160.60. 12 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 4 hits.
PF13912. zf-C2H2_6. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 12 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 12 hits.
PS50157. ZINC_FINGER_C2H2_2. 12 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96MX3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MERAVEPWGP DLHRPEEREP QRGARTGLGS ENVISQPNEF EHTPQEDDLG
60 70 80 90 100
FKEEDLAPDH EVGNASLKPE GIQNWDDLWV QREGLGKPQP RDRGPRLLGE
110 120 130 140 150
PRWGQASSDR AAVCGECGKS FRQMSDLVKH QRTHTGEKPY KCGVCGKGFG
160 170 180 190 200
DSSARIKHQR THSGEKPYRA RPPAQGPPKI PRSRIPAGER PTICGECGKS
210 220 230 240 250
FRQSSDLVKH QRTHTGEKPY KCGICGKGFG DSSARIKHQR THRGEQPPRP
260 270 280 290 300
VVPRRQPSRA ATAATQGPKA QDKPYICTDC GKRFVLSCSL LSHQRSHLGP
310 320 330 340 350
KPFGCDVCGK EFARGSDLVK HLRVHTGEKP YLCPECGKGF ADSSARVKHL
360 370 380 390 400
RTHSGERPHA CPECDRTFSL SSTLLRHRLT HMEPQDFSFP GYPLPALIPS
410 420 430 440 450
PPPPPLGTSP PLTPRSPSHS GEPFGLPGLE PEPGGPQAGE PPPPLAGDKP
460 470 480 490 500
HKCPECGKGF RRSSDLVKHH RVHTGEKPYL CPECGKGFAD SSARVKHLRT
510 520 530 540 550
HRGERARPPP PSTLLRPHNP PGPVPMAPRP RVRAQPSGPS QPHVCGFCGK
560 570 580 590 600
EFPRSSDLVK HRRTHTGEKP YKCAECGKGF GDSSARIKHQ RGHLVLTPFG
610
IGDGRARPLK QEAATGLE
Length:618
Mass (Da):67,820
Last modified:May 18, 2010 - v2
Checksum:iB31CB196816B2D93
GO

Sequence cautioni

The sequence AAA61316 differs from that shown. Reason: Frameshift at position 168.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti12L → I in AAH41388 (PubMed:15616553).Curated1
Sequence conflicti140Y → C in AAH41388 (PubMed:15616553).Curated1
Sequence conflicti203Q → L in BAB71146 (PubMed:14702039).Curated1
Sequence conflicti344S → P in AAH41388 (PubMed:15616553).Curated1
Sequence conflicti351R → H in AAH41388 (PubMed:15616553).Curated1
Sequence conflicti451H → R in AAH41388 (PubMed:15616553).Curated1
Sequence conflicti563R → H in AAH41388 (PubMed:15616553).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05989421Q → R.Corresponds to variant rs7200143dbSNPEnsembl.1
Natural variantiVAR_05275865A → V.3 PublicationsCorresponds to variant rs12921440dbSNPEnsembl.1
Natural variantiVAR_052759224I → V.Corresponds to variant rs34843513dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056313 mRNA. Translation: BAB71146.1.
AC116348 Genomic DNA. No translation available.
BC007393 mRNA. Translation: AAH07393.2.
BC041388 mRNA. Translation: AAH41388.1.
M88358 Genomic DNA. Translation: AAA61316.1. Frameshift.
AL832433 mRNA. Translation: CAH10657.1.
CCDSiCCDS10679.1.
PIRiB43284.
RefSeqiNP_001201835.1. NM_001214906.1.
NP_001201838.1. NM_001214909.1.
NP_689865.2. NM_152652.2.
UniGeneiHs.513501.
Hs.690989.

Genome annotation databases

EnsembliENST00000320159; ENSP00000324056; ENSG00000180035.
ENST00000613509; ENSP00000480262; ENSG00000180035.
GeneIDi197407.
KEGGihsa:197407.
UCSCiuc002dya.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056313 mRNA. Translation: BAB71146.1.
AC116348 Genomic DNA. No translation available.
BC007393 mRNA. Translation: AAH07393.2.
BC041388 mRNA. Translation: AAH41388.1.
M88358 Genomic DNA. Translation: AAA61316.1. Frameshift.
AL832433 mRNA. Translation: CAH10657.1.
CCDSiCCDS10679.1.
PIRiB43284.
RefSeqiNP_001201835.1. NM_001214906.1.
NP_001201838.1. NM_001214909.1.
NP_689865.2. NM_152652.2.
UniGeneiHs.513501.
Hs.690989.

3D structure databases

ProteinModelPortaliQ96MX3.
SMRiQ96MX3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128257. 7 interactors.
IntActiQ96MX3. 7 interactors.
STRINGi9606.ENSP00000324056.

PTM databases

iPTMnetiQ96MX3.
PhosphoSitePlusiQ96MX3.

Polymorphism and mutation databases

BioMutaiZNF48.
DMDMi296453060.

Proteomic databases

EPDiQ96MX3.
MaxQBiQ96MX3.
PaxDbiQ96MX3.
PeptideAtlasiQ96MX3.
PRIDEiQ96MX3.
TopDownProteomicsiQ96MX3.

Protocols and materials databases

DNASUi197407.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320159; ENSP00000324056; ENSG00000180035.
ENST00000613509; ENSP00000480262; ENSG00000180035.
GeneIDi197407.
KEGGihsa:197407.
UCSCiuc002dya.2. human.

Organism-specific databases

CTDi197407.
GeneCardsiZNF48.
HGNCiHGNC:13114. ZNF48.
HPAiHPA023806.
neXtProtiNX_Q96MX3.
OpenTargetsiENSG00000180035.
PharmGKBiPA37689.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721. Eukaryota.
COG5048. LUCA.
GeneTreeiENSGT00740000115670.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ96MX3.
OMAiMEPQDFG.
OrthoDBiEOG091G02KC.
PhylomeDBiQ96MX3.
TreeFamiTF338489.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180035-MONOMER.

Miscellaneous databases

GenomeRNAii197407.
PROiQ96MX3.

Gene expression databases

BgeeiENSG00000180035.
CleanExiHS_ZNF48.
ExpressionAtlasiQ96MX3. baseline and differential.
GenevisibleiQ96MX3. HS.

Family and domain databases

Gene3Di3.30.160.60. 12 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 4 hits.
PF13912. zf-C2H2_6. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 12 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 12 hits.
PS50157. ZINC_FINGER_C2H2_2. 12 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiZNF48_HUMAN
AccessioniPrimary (citable) accession number: Q96MX3
Secondary accession number(s): Q15920
, Q4G0R3, Q69YP3, Q96IL9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 123 of the entry and version 2 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 16
    Human chromosome 16: 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.