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Protein

Zinc finger and BTB domain-containing protein 38

Gene

ZBTB38

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

Functioni

Transcriptional regulator with bimodal DNA-binding specificity. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' but can also bind to E-box elements (5'-CACGTG-3'). Can also bind specifically to a single methyl-CpG pair. Represses transcription in a methyl-CpG-dependent manner (PubMed:16354688). Plays an important role in regulating DNA replication and common fragile sites (CFS) stability in a RBBP6- and MCM10-dependent manner; represses expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359). Acts as a transcriptional activator. May be involved in the differentiation and/or survival of late postmitotic neurons (By similarity).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri342 – 364C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri371 – 395C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST25
Zinc fingeri460 – 482C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri488 – 510C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri516 – 539C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1010 – 1032C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1038 – 1060C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1066 – 1088C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1094 – 1116C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1125 – 1147C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

  • cellular response to DNA damage stimulus Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription by RNA polymerase II Source: UniProtKB
  • regulation of DNA replication Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger and BTB domain-containing protein 38
Gene namesi
Name:ZBTB38Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000177311.10
HGNCiHGNC:26636 ZBTB38
MIMi612218 gene
neXtProtiNX_Q8NAP3

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

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi253461
MIMi612221 phenotype
OpenTargetsiENSG00000177311
PharmGKBiPA142670542

Polymorphism and mutation databases

BioMutaiZBTB38
DMDMi68566212

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000477421 – 1195Zinc finger and BTB domain-containing protein 38Add BLAST1195

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki43Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei130PhosphoserineCombined sources1
Cross-linki145Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki148Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki151Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki259Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei309PhosphoserineCombined sources1
Cross-linki550Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki557Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki754Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki758Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki763Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki804Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki814Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki821Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki842Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki850Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki857Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki923Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki964Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki969Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki977Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki981Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki991Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1017Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1026Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1109Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1132Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1135Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1150Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1183Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Ubiquitinated by RBBP6; leading to its degradation by the proteasome.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8NAP3
MaxQBiQ8NAP3
PaxDbiQ8NAP3
PeptideAtlasiQ8NAP3
PRIDEiQ8NAP3
ProteomicsDBi72688

PTM databases

iPTMnetiQ8NAP3
PhosphoSitePlusiQ8NAP3

Expressioni

Gene expression databases

BgeeiENSG00000177311
CleanExiHS_ZBTB38
ExpressionAtlasiQ8NAP3 baseline and differential
GenevisibleiQ8NAP3 HS

Organism-specific databases

HPAiHPA014865
HPA059378

Interactioni

Subunit structurei

Interacts with CBFA2T3. Interacts with ZBTB4. Interacts with RBBP6.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ZNF526Q8TF504EBI-5235984,EBI-11035148

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi128969, 47 interactors
IntActiQ8NAP3, 21 interactors
MINTiQ8NAP3
STRINGi9606.ENSP00000406955

Structurei

3D structure databases

ProteinModelPortaliQ8NAP3
SMRiQ8NAP3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 100BTBPROSITE-ProRule annotationAdd BLAST68

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni300 – 523Interaction with CBFA2T31 PublicationAdd BLAST224

Domaini

The BTB domain is not required for activation of transcription or self-association.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri342 – 364C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri371 – 395C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST25
Zinc fingeri460 – 482C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri488 – 510C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri516 – 539C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri1010 – 1032C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1038 – 1060C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1066 – 1088C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1094 – 1116C2H2-type 9PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1125 – 1147C2H2-type 10PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00810000125416
HOVERGENiHBG084299
InParanoidiQ8NAP3
KOiK10510
OMAiCELCAKQ
OrthoDBiEOG091G00XR
PhylomeDBiQ8NAP3
TreeFamiTF333100

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00651 BTB, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SM00355 ZnF_C2H2, 10 hits
SUPFAMiSSF54695 SSF54695, 1 hit
SSF57667 SSF57667, 4 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 9 hits
PS50157 ZINC_FINGER_C2H2_2, 9 hits

Sequencei

Sequence statusi: Complete.

Q8NAP3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTVMSLSRDL KDDFHSDTVL SILNEQRIRG ILCDVTIIVE DTKFKAHSNV
60 70 80 90 100
LAASSLYFKN IFWSHTICIS SHVLELDDLK AEVFTEILNY IYSSTVVVKR
110 120 130 140 150
QETVTDLAAA GKKLGISFLE DLTDRNFSNS PGPYVFCITE KGVVKEEKNE
160 170 180 190 200
KRHEEPAITN GPRITNAFSI IETENSNNMF SPLDLRASFK KVSDSMRTAS
210 220 230 240 250
LCLERTDVCH EAEPVRTLAE HSYAVSSVAE AYRSQPVREH DGSSPGNTGK
260 270 280 290 300
ENCEALAAKP KTCRKPKTFS IPQDSDSATE NIPPPPVSNL EVNQERSPQP
310 320 330 340 350
AAVLTRSKSP NNEGDVHFSR EDENQSSDVP GPPAAEVPPL VYNCSCCSKA
360 370 380 390 400
FDSSTLLSAH MQLHKPTQEP LVCKYCNKQF TTLNRLDRHE QICMRSSHMP
410 420 430 440 450
IPGGNQRFLE NYPTIGQNGG SFTGPEPLLS ENRIGEFSST GSTLPDTDHM
460 470 480 490 500
VKFVNGQMLY SCVVCKRSYV TLSSLRRHAN VHSWRRTYPC HYCNKVFALA
510 520 530 540 550
EYRTRHEIWH TGERRYQCIF CLETFMTYYI LKNHQKSFHA IDHRLSISKK
560 570 580 590 600
TANGGLKPSV YPYKLYRLLP MKCKRAPYKS YRNSSYENAR ENSQMNESAP
610 620 630 640 650
GTYVVQNPHS SELPTLNFQD TVNTLTNSPA IPLETSACQD IPTSANVQNA
660 670 680 690 700
EGTKWGEEAL KMDLDNNFYS TEVSVSSTEN AVSSDLRAGD VPVLSLSNSS
710 720 730 740 750
ENAASVISYS GSAPSVIVHS SQFSSVIMHS NAIAAMTSSN HRAFSDPAVS
760 770 780 790 800
QSLKDDSKPE PDKVGRFASR PKSIKEKKKT TSHTRGEIPE ESNYVADPGG
810 820 830 840 850
SLSKTTNIAE ETSKIETYIA KPALPGTSTN SNVAPLCQIT VKIGNEAIVK
860 870 880 890 900
RHILGSKLFY KRGRRPKYQM QEEPLPQGND PEPSGDSPLG LCQSECMEMS
910 920 930 940 950
EVFDDASDQD STDKPWRPYY NYKPKKKSRQ LKKMRKVNWR KEHGNRSPSH
960 970 980 990 1000
KCKYPAELDC AVGKAPQDKP FEEEETKEMP KLQCELCDGD KAVGAGNQGR
1010 1020 1030 1040 1050
PHRHLTSRPY ACELCAKQFQ SPSTLKMHMR CHTGEKPYQC KTCGRCFSVQ
1060 1070 1080 1090 1100
GNLQKHERIH LGLKEFVCQY CNKAFTLNET LKIHERIHTG EKRYHCQFCF
1110 1120 1130 1140 1150
QRFLYLSTKR NHEQRHIREH NGKGYACFQC PKICKTAAAL GMHQKKHLFK
1160 1170 1180 1190
SPSQQEKIGD VCHENSNPLE NQHFIGSEDN DQKDNIQTGV ENVVL
Length:1,195
Mass (Da):134,257
Last modified:July 5, 2005 - v2
Checksum:iA44561D86ACCC2D8
GO

Sequence cautioni

The sequence BAC03868 differs from that shown. Reason: Frameshift at position 147.Curated

Polymorphismi

Genetic variations in ZBTB38 define the stature quantitative trait locus 10 (STQTL10) [MIMi:612221]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052917319S → A. Corresponds to variant dbSNP:rs16851435Ensembl.1
Natural variantiVAR_052918615T → M. Corresponds to variant dbSNP:rs17787670Ensembl.1
Natural variantiVAR_052919809A → T. Corresponds to variant dbSNP:rs3732867Ensembl.1
Natural variantiVAR_0796101067V → I Found in patients with pathologic myopia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202147729Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010184 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79004.1
CH471052 Genomic DNA Translation: EAW79005.1
AK092355 mRNA Translation: BAC03868.1 Frameshift.
CCDSiCCDS43157.1
RefSeqiNP_001073881.2, NM_001080412.2
XP_005247314.1, XM_005247257.1
XP_005247315.1, XM_005247258.1
XP_005247318.1, XM_005247261.3
XP_011510913.1, XM_011512611.1
XP_016861541.1, XM_017006052.1
XP_016861542.1, XM_017006053.1
XP_016861543.1, XM_017006054.1
XP_016861544.1, XM_017006055.1
XP_016861545.1, XM_017006056.1
XP_016861546.1, XM_017006057.1
XP_016861547.1, XM_017006058.1
XP_016861548.1, XM_017006059.1
XP_016861549.1, XM_017006060.1
XP_016861550.1, XM_017006061.1
UniGeneiHs.518301

Genome annotation databases

EnsembliENST00000321464; ENSP00000372635; ENSG00000177311
ENST00000441582; ENSP00000406955; ENSG00000177311
ENST00000514251; ENSP00000426387; ENSG00000177311
ENST00000637056; ENSP00000490041; ENSG00000177311
GeneIDi253461
KEGGihsa:253461
UCSCiuc062olr.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiZBT38_HUMAN
AccessioniPrimary (citable) accession number: Q8NAP3
Secondary accession number(s): D3DNF6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: June 20, 2018
This is version 139 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

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