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Q9HB09

- B2L12_HUMAN

UniProt

Q9HB09 - B2L12_HUMAN

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Protein

Bcl-2-like protein 12

Gene

BCL2L12

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

Functioni

GO - Biological processi

  1. inhibition of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProt
  2. positive regulation of transcription from RNA polymerase II promoter Source: UniProt
Complete GO annotation...

Keywords - Biological processi

Apoptosis

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
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:13787. BCL2L12.

Subcellular locationi

GO - Cellular componenti

  1. membrane Source: UniProtKB
  2. nucleus Source: MGI
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25306.

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 – 1131Phosphoserine1 Publication
Modified residuei117 – 1171Phosphothreonine1 Publication
Modified residuei121 – 1211Phosphoserine1 Publication
Modified residuei242 – 2421Phosphoserine3 Publications
Modified residuei243 – 2431Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9HB09.
PaxDbiQ9HB09.
PRIDEiQ9HB09.

PTM databases

PhosphoSiteiQ9HB09.

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

BgeeiQ9HB09.
CleanExiHS_BCL2L12.
ExpressionAtlasiQ9HB09. baseline and differential.
GenevestigatoriQ9HB09.

Organism-specific databases

HPAiHPA020856.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi123692. 7 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

eggNOGiNOG41154.
GeneTreeiENSGT00390000001825.
HOGENOMiHOG000294149.
HOVERGENiHBG050647.
InParanoidiQ9HB09.
OMAiQEEPTDF.
OrthoDBiEOG7XM2ZJ.
PhylomeDBiQ9HB09.
TreeFamiTF338350.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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.3. human. [Q9HB09-1]
uc002ppb.3. human. [Q9HB09-3]

Polymorphism databases

DMDMi23396468.

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 .
CCDSi CCDS12776.1. [Q9HB09-1 ]
CCDS46144.1. [Q9HB09-3 ]
RefSeqi NP_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 ]
UniGenei Hs.289052.

3D structure databases

ProteinModelPortali Q9HB09.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123692. 7 interactions.
IntActi Q9HB09. 3 interactions.
STRINGi 9606.ENSP00000246785.

PTM databases

PhosphoSitei Q9HB09.

Polymorphism databases

DMDMi 23396468.

Proteomic databases

MaxQBi Q9HB09.
PaxDbi Q9HB09.
PRIDEi Q9HB09.

Protocols and materials databases

DNASUi 83596.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000246785 ; ENSP00000246785 ; ENSG00000126453 . [Q9HB09-1 ]
ENST00000441864 ; ENSP00000393803 ; ENSG00000126453 . [Q9HB09-3 ]
ENST00000616144 ; ENSP00000482218 ; ENSG00000126453 . [Q9HB09-1 ]
GeneIDi 83596.
KEGGi hsa:83596.
UCSCi uc002ppa.3. human. [Q9HB09-1 ]
uc002ppb.3. human. [Q9HB09-3 ]

Organism-specific databases

CTDi 83596.
GeneCardsi GC19P050168.
HGNCi HGNC:13787. BCL2L12.
HPAi HPA020856.
MIMi 610837. gene.
neXtProti NX_Q9HB09.
PharmGKBi PA25306.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41154.
GeneTreei ENSGT00390000001825.
HOGENOMi HOG000294149.
HOVERGENi HBG050647.
InParanoidi Q9HB09.
OMAi QEEPTDF.
OrthoDBi EOG7XM2ZJ.
PhylomeDBi Q9HB09.
TreeFami TF338350.

Miscellaneous databases

ChiTaRSi BCL2L12. human.
GeneWikii BCL2L12.
GenomeRNAii 83596.
NextBioi 72533.
PROi Q9HB09.
SOURCEi Search...

Gene expression databases

Bgeei Q9HB09.
CleanExi HS_BCL2L12.
ExpressionAtlasi Q9HB09. baseline and differential.
Genevestigatori Q9HB09.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family."
    Scorilas A., Kyriakopoulou L., Yousef G.M., Ashworth L.K., Kwamie A., Diamandis E.P.
    Genomics 72:217-221(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2).
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Uterus.
  4. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113; THR-117; SER-121 AND SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-242 AND SER-243, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: November 26, 2014
This is version 104 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

External Data

Dasty 3