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Entry version 72 (16 Jan 2019)
Sequence version 1 (01 Jul 2008)
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Protein

BTB/POZ domain-containing protein 18

Gene

BTBD18

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDifferentiation, Spermatogenesis, Transcription, Transcription regulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
BTB/POZ domain-containing protein 18Curated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BTBD18Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000233436.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:37214 BTBD18

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_B2RXH4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000233436

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165543229

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BTBD18

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003942371 – 712BTB/POZ domain-containing protein 18Add BLAST712

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei420PhosphoserineBy similarity1
Modified residuei671PhosphoserineBy similarity1
Modified residuei672PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
B2RXH4

PRoteomics IDEntifications database

More...
PRIDEi
B2RXH4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
3463

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
B2RXH4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
B2RXH4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000233436 Expressed in 52 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
B2RXH4 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049325

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
568729, 1 interactor

Protein interaction database and analysis system

More...
IntActi
B2RXH4, 1 interactor

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
B2RXH4

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
B2RXH4

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini34 – 102BTBPROSITE-ProRule annotationAdd BLAST69

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi673 – 676Poly-Glu4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IWG8 Eukaryota
ENOG410Y41A LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00560000078563

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000060309

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
B2RXH4

Identification of Orthologs from Complete Genome Data

More...
OMAi
NGTCWEV

Database of Orthologous Groups

More...
OrthoDBi
1090350at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
B2RXH4

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00651 BTB, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00225 BTB, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54695 SSF54695, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50097 BTB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

B2RXH4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MCSPASPKIL YRNPRFLRLA FLQLHHQQQS DVFCDVLLQA EGEAVPAHCC
60 70 80 90 100
ILSACSPFFT ERLERERPAQ GGKVVLELGG LKISTLRKLV DFLYTSEMEV
110 120 130 140 150
SQEEAQDVLS AARQLRVSEL ESLQLEGGKL VKAPQGRRLN RECLQPTSAA
160 170 180 190 200
PISARVVTPS HHPHTPLPTN QTPCPLGAIR LKSLGKEEGP QENNRQNADN
210 220 230 240 250
LSGTLLLKRK ARACPTPQEK NSSPSSHSQE PRENKNDTAL DPTVLSPPSL
260 270 280 290 300
YPSVDKHLLP RKIRLSRSKP SPGICTSKPS SILSGSSSVP ATPGRRLWRQ
310 320 330 340 350
RSVNKETPED KPKPGRASPL QSTPNPSGLG KTGGSRKRSP EVRAPNSDSA
360 370 380 390 400
EEGQVGRVKL RKIVNGTCWE VVQETPLKNT QDSPQIPDPG GDFQEPSGTQ
410 420 430 440 450
PFSSNEQEMS PTRTELCQDS PMCTKLQDIL VSASHSPDHP VVKSEFESSP
460 470 480 490 500
ELVEKEPMLA IDCREPYAFD TALLEQPCEA EEYRITSAAA TSELEEILDF
510 520 530 540 550
MLCGSDIEPP IGSLESPGAE GCRTPTYHLT ETGKNWIEGE EWCLPDMELW
560 570 580 590 600
PRELTELEKE PAGENRGPTE LLSPLVMPSE VSEVLSVGGR WTPDLEITSS
610 620 630 640 650
QPLDGQEDKL LHVSSLDTPQ RSYGDLSPPC SNWVETGLEV SLTTDELLYP
660 670 680 690 700
SPKAGKEVSG HSELLGSLPA SSEEEEIDVV DWTAEGRLVP TTVPSVWPDP
710
SSESETEVDI LT
Length:712
Mass (Da):77,931
Last modified:July 1, 2008 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i08B388B0B1BB871B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PRF5E9PRF5_HUMAN
BTB/POZ domain-containing protein 1...
BTBD18
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063155302S → T. Corresponds to variant dbSNP:rs78162678Ensembl.1
Natural variantiVAR_063156352E → G. Corresponds to variant dbSNP:rs201912857Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AP001931 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW73783.1
BC157853 mRNA Translation: AAI57854.1
BC157854 mRNA Translation: AAI57855.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44603.1

NCBI Reference Sequences

More...
RefSeqi
NP_001138573.1, NM_001145101.1
XP_011543514.1, XM_011545212.2
XP_016873616.1, XM_017018127.1
XP_016873617.1, XM_017018128.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.606355

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000422652; ENSP00000394472; ENSG00000233436
ENST00000436147; ENSP00000397020; ENSG00000233436

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
643376

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:643376

UCSC genome browser

More...
UCSCi
uc009ymm.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP001931 Genomic DNA No translation available.
CH471076 Genomic DNA Translation: EAW73783.1
BC157853 mRNA Translation: AAI57854.1
BC157854 mRNA Translation: AAI57855.1
CCDSiCCDS44603.1
RefSeqiNP_001138573.1, NM_001145101.1
XP_011543514.1, XM_011545212.2
XP_016873616.1, XM_017018127.1
XP_016873617.1, XM_017018128.1
UniGeneiHs.606355

3D structure databases

ProteinModelPortaliB2RXH4
SMRiB2RXH4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi568729, 1 interactor
IntActiB2RXH4, 1 interactor

PTM databases

iPTMnetiB2RXH4
PhosphoSitePlusiB2RXH4

Polymorphism and mutation databases

BioMutaiBTBD18

Proteomic databases

PaxDbiB2RXH4
PRIDEiB2RXH4
ProteomicsDBi3463

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000422652; ENSP00000394472; ENSG00000233436
ENST00000436147; ENSP00000397020; ENSG00000233436
GeneIDi643376
KEGGihsa:643376
UCSCiuc009ymm.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
643376
EuPathDBiHostDB:ENSG00000233436.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BTBD18
HGNCiHGNC:37214 BTBD18
HPAiHPA049325
neXtProtiNX_B2RXH4
OpenTargetsiENSG00000233436
PharmGKBiPA165543229

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IWG8 Eukaryota
ENOG410Y41A LUCA
GeneTreeiENSGT00560000078563
HOGENOMiHOG000060309
InParanoidiB2RXH4
OMAiNGTCWEV
OrthoDBi1090350at2759
PhylomeDBiB2RXH4

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
643376

Protein Ontology

More...
PROi
PR:B2RXH4

Gene expression databases

BgeeiENSG00000233436 Expressed in 52 organ(s), highest expression level in corpus callosum
ExpressionAtlasiB2RXH4 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF00651 BTB, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBTBDI_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: B2RXH4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 18, 2010
Last sequence update: July 1, 2008
Last modified: January 16, 2019
This is version 72 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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
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