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Protein

Chromatin complexes subunit BAP18

Gene

BAP18

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

Functioni

Component of chromatin complexes such as the MLL1/MLL and NURF complexes.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Chromatin complexes subunit BAP18
Alternative name(s):
BPTF-associated protein of 18 kDa
Gene namesi
Name:BAP18
Synonyms:C17orf49
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000258315.5
HGNCiHGNC:28737 C17orf49
neXtProtiNX_Q8IXM2

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

Organism-specific databases

OpenTargetsiENSG00000258315
PharmGKBiPA142672232

Polymorphism and mutation databases

BioMutaiBAP18
DMDMi74759674

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002642511 – 172Chromatin complexes subunit BAP18Add BLAST172

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei96PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8IXM2
MaxQBiQ8IXM2
PaxDbiQ8IXM2
PeptideAtlasiQ8IXM2
PRIDEiQ8IXM2
ProteomicsDBi71027
71028 [Q8IXM2-2]
TopDownProteomicsiQ8IXM2-1 [Q8IXM2-1]

PTM databases

iPTMnetiQ8IXM2
PhosphoSitePlusiQ8IXM2

Expressioni

Gene expression databases

BgeeiENSG00000258315 Expressed in 92 organ(s), highest expression level in adrenal gland
CleanExiHS_C17orf49
ExpressionAtlasiQ8IXM2 baseline and differential
GenevisibleiQ8IXM2 HS

Organism-specific databases

HPAiHPA022961
HPA024457

Interactioni

Subunit structurei

Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the nucleosome-remodeling factor (NURF) complex.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DPY30Q9C0053EBI-4280811,EBI-744973

Protein-protein interaction databases

BioGridi125903, 29 interactors
CORUMiQ8IXM2
DIPiDIP-60552N
IntActiQ8IXM2, 10 interactors
MINTiQ8IXM2
STRINGi9606.ENSP00000448598

Structurei

3D structure databases

ProteinModelPortaliQ8IXM2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini38 – 86SANTAdd BLAST49

Phylogenomic databases

eggNOGiKOG4834 Eukaryota
ENOG4111K4E LUCA
GeneTreeiENSGT00390000014721
HOGENOMiHOG000234357
HOVERGENiHBG056647
InParanoidiQ8IXM2
OrthoDBiEOG091G0ZKS
PhylomeDBiQ8IXM2
TreeFamiTF324877

Family and domain databases

CDDicd00167 SANT, 1 hit
InterProiView protein in InterPro
IPR037931 BAP18
IPR009057 Homeobox-like_sf
IPR001005 SANT/Myb
PANTHERiPTHR21397:SF2 PTHR21397:SF2, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IXM2-1) [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
MTSASTKVGE IFSAAGAAFT KLGELTMQLH PVADSSPAGA KWTETEIEML
60 70 80 90 100
RAAVKRFGDD LNHISCVIKE RTVAQIKATV KRKVYEDSGI PLPAESPKKG
110 120 130 140 150
PKKVASGVLS PPPAAPPPSS SSVPEAGGPP IKKQKADVTL SALNDSDANS
160 170
DVVDIEGLGE TPPAKKLNFD QA
Length:172
Mass (Da):17,900
Last modified:March 1, 2003 - v1
Checksum:iEED33FA9BD649F19
GO
Isoform 2 (identifier: Q8IXM2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     40-73: Missing.

Note: No experimental confirmation available.
Show »
Length:138
Mass (Da):13,958
Checksum:i30D3C4ECF6F6D97A
GO
Isoform 3 (identifier: Q8IXM2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     172-172: A → DSLTLDSGLLMTSADPPLLSC

Note: Gene prediction based on EST data.
Show »
Length:192
Mass (Da):19,961
Checksum:i764AC185E4B868A4
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W038F8W038_HUMAN
Chromosome 17 open reading frame 49
C17orf49
157Annotation score:
F8W1H0F8W1H0_HUMAN
Chromosome 17 open reading frame 49
C17orf49
166Annotation score:
K7ES76K7ES76_HUMAN
Chromosome 17 open reading frame 49
C17orf49
23Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04375440 – 73Missing in isoform 2. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_047095172A → DSLTLDSGLLMTSADPPLLS C in isoform 3. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CN280697 mRNA No translation available.
AK295795 mRNA Translation: BAG58615.1
AC040977 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90278.1
BC040036 mRNA Translation: AAH40036.1
BC040148 mRNA Translation: AAH40148.1
CCDSiCCDS32542.1 [Q8IXM2-1]
CCDS45595.1 [Q8IXM2-3]
CCDS45596.1 [Q8IXM2-2]
RefSeqiNP_001136270.1, NM_001142798.2 [Q8IXM2-3]
NP_001136271.1, NM_001142799.2 [Q8IXM2-2]
NP_777553.1, NM_174893.3 [Q8IXM2-1]
UniGeneiHs.511801

Genome annotation databases

EnsembliENST00000439424; ENSP00000411851; ENSG00000258315 [Q8IXM2-1]
ENST00000546495; ENSP00000448598; ENSG00000258315 [Q8IXM2-3]
ENST00000552402; ENSP00000448746; ENSG00000258315 [Q8IXM2-2]
GeneIDi124944
KEGGihsa:124944
UCSCiuc002ged.4 human [Q8IXM2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CN280697 mRNA No translation available.
AK295795 mRNA Translation: BAG58615.1
AC040977 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90278.1
BC040036 mRNA Translation: AAH40036.1
BC040148 mRNA Translation: AAH40148.1
CCDSiCCDS32542.1 [Q8IXM2-1]
CCDS45595.1 [Q8IXM2-3]
CCDS45596.1 [Q8IXM2-2]
RefSeqiNP_001136270.1, NM_001142798.2 [Q8IXM2-3]
NP_001136271.1, NM_001142799.2 [Q8IXM2-2]
NP_777553.1, NM_174893.3 [Q8IXM2-1]
UniGeneiHs.511801

3D structure databases

ProteinModelPortaliQ8IXM2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125903, 29 interactors
CORUMiQ8IXM2
DIPiDIP-60552N
IntActiQ8IXM2, 10 interactors
MINTiQ8IXM2
STRINGi9606.ENSP00000448598

PTM databases

iPTMnetiQ8IXM2
PhosphoSitePlusiQ8IXM2

Polymorphism and mutation databases

BioMutaiBAP18
DMDMi74759674

Proteomic databases

EPDiQ8IXM2
MaxQBiQ8IXM2
PaxDbiQ8IXM2
PeptideAtlasiQ8IXM2
PRIDEiQ8IXM2
ProteomicsDBi71027
71028 [Q8IXM2-2]
TopDownProteomicsiQ8IXM2-1 [Q8IXM2-1]

Protocols and materials databases

DNASUi124944
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000439424; ENSP00000411851; ENSG00000258315 [Q8IXM2-1]
ENST00000546495; ENSP00000448598; ENSG00000258315 [Q8IXM2-3]
ENST00000552402; ENSP00000448746; ENSG00000258315 [Q8IXM2-2]
GeneIDi124944
KEGGihsa:124944
UCSCiuc002ged.4 human [Q8IXM2-1]

Organism-specific databases

CTDi124944
EuPathDBiHostDB:ENSG00000258315.5
GeneCardsiC17orf49
H-InvDBiHIX0157195
HGNCiHGNC:28737 C17orf49
HPAiHPA022961
HPA024457
neXtProtiNX_Q8IXM2
OpenTargetsiENSG00000258315
PharmGKBiPA142672232
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4834 Eukaryota
ENOG4111K4E LUCA
GeneTreeiENSGT00390000014721
HOGENOMiHOG000234357
HOVERGENiHBG056647
InParanoidiQ8IXM2
OrthoDBiEOG091G0ZKS
PhylomeDBiQ8IXM2
TreeFamiTF324877

Miscellaneous databases

ChiTaRSiC17orf49 human
GenomeRNAii124944
PROiPR:Q8IXM2

Gene expression databases

BgeeiENSG00000258315 Expressed in 92 organ(s), highest expression level in adrenal gland
CleanExiHS_C17orf49
ExpressionAtlasiQ8IXM2 baseline and differential
GenevisibleiQ8IXM2 HS

Family and domain databases

CDDicd00167 SANT, 1 hit
InterProiView protein in InterPro
IPR037931 BAP18
IPR009057 Homeobox-like_sf
IPR001005 SANT/Myb
PANTHERiPTHR21397:SF2 PTHR21397:SF2, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBAP18_HUMAN
AccessioniPrimary (citable) accession number: Q8IXM2
Secondary accession number(s): B4DIV3, C9J4G0, E9PB29
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: March 1, 2003
Last modified: September 12, 2018
This is version 148 of the entry and version 1 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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