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Protein

Bcl-2-like protein 12

Gene

BCL2L12

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

Functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Apoptosis

Enzyme and pathway databases

SIGNORiQ9HB09.

Names & Taxonomyi

Protein namesi
Recommended name:
Bcl-2-like protein 12
Short name:
Bcl2-L-12
Alternative name(s):
Bcl-2-related proline-rich protein
Gene namesi
Name:BCL2L12
Synonyms:BPR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:13787. BCL2L12.

Subcellular locationi

GO - Cellular componenti

  • membrane Source: UniProtKB
  • nucleus Source: MGI
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25306.

Polymorphism and mutation databases

BioMutaiBCL2L12.
DMDMi23396468.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 334334Bcl-2-like protein 12PRO_0000143072Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei113 – 1131PhosphoserineCombined sources
Modified residuei117 – 1171PhosphothreonineCombined sources
Modified residuei121 – 1211PhosphoserineCombined sources
Modified residuei195 – 1951PhosphoserineCombined sources
Modified residuei242 – 2421PhosphoserineCombined sources
Modified residuei243 – 2431PhosphoserineCombined sources
Modified residuei245 – 2451PhosphoserineCombined sources
Modified residuei273 – 2731PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HB09.
MaxQBiQ9HB09.
PaxDbiQ9HB09.
PeptideAtlasiQ9HB09.
PRIDEiQ9HB09.

PTM databases

iPTMnetiQ9HB09.
PhosphoSiteiQ9HB09.
SwissPalmiQ9HB09.

Expressioni

Tissue specificityi

Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is primarily expressed in skeletal muscle.

Gene expression databases

BgeeiENSG00000126453.
CleanExiHS_BCL2L12.
ExpressionAtlasiQ9HB09. baseline and differential.
GenevisibleiQ9HB09. HS.

Organism-specific databases

HPAiHPA020856.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
HSPA1BP081072EBI-6969019,EBI-629985
UBCP0CG483EBI-6968951,EBI-3390054

Protein-protein interaction databases

BioGridi123692. 5 interactions.
IntActiQ9HB09. 3 interactions.
STRINGi9606.ENSP00000246785.

Structurei

3D structure databases

ProteinModelPortaliQ9HB09.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi311 – 32212BH2Add
BLAST

Sequence similaritiesi

Belongs to the Bcl-2 family.Curated

Phylogenomic databases

eggNOGiENOG410IVDH. Eukaryota.
ENOG410YTZU. LUCA.
GeneTreeiENSGT00390000001825.
HOGENOMiHOG000294149.
HOVERGENiHBG050647.
InParanoidiQ9HB09.
OMAiAPWIQAH.
OrthoDBiEOG091G0HI1.
PhylomeDBiQ9HB09.
TreeFamiTF338350.

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9HB09-1) [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
MGRPAGLFPP LCPFLGFRPE ACWERHMQIE RAPSVPPFLR WAGYRPGPVR
60 70 80 90 100
RRGKVELIKF VRVQWRRPQV EWRRRRWGPG PGASMAGSEE LGLREDTLRV
110 120 130 140 150
LAAFLRRGEA AGSPVPTPPR SPAQEEPTDF LSRLRRCLPC SLGRGAAPSE
160 170 180 190 200
SPRPCSLPIR PCYGLEPGPA TPDFYALVAQ RLEQLVQEQL KSPPSPELQG
210 220 230 240 250
PPSTEKEAIL RRLVALLEEE AEVINQKLAS DPALRSKLVR LSSDSFARLV
260 270 280 290 300
ELFCSRDDSS RPSRACPGPP PPSPEPLARL ALAMELSRRV AGLGGTLAGL
310 320 330
SVEHVHSFTP WIQAHGGWEG ILAVSPVDLN LPLD
Length:334
Mass (Da):36,821
Last modified:March 1, 2001 - v1
Checksum:i5398E54C83E7CAB7
GO
Isoform 2 (identifier: Q9HB09-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     121-176: SPAQEEPTDF...PGPATPDFYA → PSYSRLLCFG...GPAGGGGRSH
     177-334: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:176
Mass (Da):19,133
Checksum:iDC503A642100CAE4
GO
Isoform 3 (identifier: Q9HB09-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     120-120: Missing.

Note: No experimental confirmation available.
Show »
Length:333
Mass (Da):36,665
Checksum:iAC8C106CC9D01518
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti270 – 2701P → S in AAH07724 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471G → V.
Corresponds to variant rs2060263 [ dbSNP | Ensembl ].
VAR_048419

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei120 – 1201Missing in isoform 3. 1 PublicationVSP_043269
Alternative sequencei121 – 17656SPAQE…PDFYA → PSYSRLLCFGGPAAGTAGPR AAEISAQPRITGSPIDREGS HTAEAGGPAGGGGRSH in isoform 2. CuratedVSP_000522Add
BLAST
Alternative sequencei177 – 334158Missing in isoform 2. CuratedVSP_000523Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF289220 Genomic DNA. Translation: AAG29495.1.
AF289220 Genomic DNA. Translation: AAG29496.1.
AC011495 Genomic DNA. No translation available.
BC007724 mRNA. Translation: AAH07724.2.
BC104004 mRNA. Translation: AAI04005.1.
BC104005 mRNA. Translation: AAI04006.1.
BC104006 mRNA. Translation: AAI04007.1.
CCDSiCCDS12776.1. [Q9HB09-1]
CCDS46144.1. [Q9HB09-3]
RefSeqiNP_001035758.1. NM_001040668.1. [Q9HB09-3]
NP_001269445.1. NM_001282516.1.
NP_001269446.1. NM_001282517.1. [Q9HB09-2]
NP_001269448.1. NM_001282519.1.
NP_001269449.1. NM_001282520.1.
NP_001269450.1. NM_001282521.1.
NP_619580.1. NM_138639.1. [Q9HB09-1]
UniGeneiHs.289052.

Genome annotation databases

EnsembliENST00000246785; ENSP00000246785; ENSG00000126453. [Q9HB09-1]
ENST00000441864; ENSP00000393803; ENSG00000126453. [Q9HB09-3]
ENST00000616144; ENSP00000482218; ENSG00000126453. [Q9HB09-1]
GeneIDi83596.
KEGGihsa:83596.
UCSCiuc002ppa.4. human. [Q9HB09-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF289220 Genomic DNA. Translation: AAG29495.1.
AF289220 Genomic DNA. Translation: AAG29496.1.
AC011495 Genomic DNA. No translation available.
BC007724 mRNA. Translation: AAH07724.2.
BC104004 mRNA. Translation: AAI04005.1.
BC104005 mRNA. Translation: AAI04006.1.
BC104006 mRNA. Translation: AAI04007.1.
CCDSiCCDS12776.1. [Q9HB09-1]
CCDS46144.1. [Q9HB09-3]
RefSeqiNP_001035758.1. NM_001040668.1. [Q9HB09-3]
NP_001269445.1. NM_001282516.1.
NP_001269446.1. NM_001282517.1. [Q9HB09-2]
NP_001269448.1. NM_001282519.1.
NP_001269449.1. NM_001282520.1.
NP_001269450.1. NM_001282521.1.
NP_619580.1. NM_138639.1. [Q9HB09-1]
UniGeneiHs.289052.

3D structure databases

ProteinModelPortaliQ9HB09.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123692. 5 interactions.
IntActiQ9HB09. 3 interactions.
STRINGi9606.ENSP00000246785.

PTM databases

iPTMnetiQ9HB09.
PhosphoSiteiQ9HB09.
SwissPalmiQ9HB09.

Polymorphism and mutation databases

BioMutaiBCL2L12.
DMDMi23396468.

Proteomic databases

EPDiQ9HB09.
MaxQBiQ9HB09.
PaxDbiQ9HB09.
PeptideAtlasiQ9HB09.
PRIDEiQ9HB09.

Protocols and materials databases

DNASUi83596.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000246785; ENSP00000246785; ENSG00000126453. [Q9HB09-1]
ENST00000441864; ENSP00000393803; ENSG00000126453. [Q9HB09-3]
ENST00000616144; ENSP00000482218; ENSG00000126453. [Q9HB09-1]
GeneIDi83596.
KEGGihsa:83596.
UCSCiuc002ppa.4. human. [Q9HB09-1]

Organism-specific databases

CTDi83596.
GeneCardsiBCL2L12.
HGNCiHGNC:13787. BCL2L12.
HPAiHPA020856.
MIMi610837. gene.
neXtProtiNX_Q9HB09.
PharmGKBiPA25306.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVDH. Eukaryota.
ENOG410YTZU. LUCA.
GeneTreeiENSGT00390000001825.
HOGENOMiHOG000294149.
HOVERGENiHBG050647.
InParanoidiQ9HB09.
OMAiAPWIQAH.
OrthoDBiEOG091G0HI1.
PhylomeDBiQ9HB09.
TreeFamiTF338350.

Enzyme and pathway databases

SIGNORiQ9HB09.

Miscellaneous databases

ChiTaRSiBCL2L12. human.
GeneWikiiBCL2L12.
GenomeRNAii83596.
PROiQ9HB09.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000126453.
CleanExiHS_BCL2L12.
ExpressionAtlasiQ9HB09. baseline and differential.
GenevisibleiQ9HB09. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiB2L12_HUMAN
AccessioniPrimary (citable) accession number: Q9HB09
Secondary accession number(s): Q3SY11
, Q3SY13, Q96I96, Q9HB08
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: March 1, 2001
Last modified: September 7, 2016
This is version 120 of the entry and version 1 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 19
    Human chromosome 19: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.