Q9HB09 (B2L12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Bcl-2-like protein 12
Short name=Bcl2-L-12

Alternative name(s):
Bcl-2-related proline-rich protein

Gene names

Name:	BCL2L12
Synonyms:	BPR

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	334 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	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.
Sequence similarities	Belongs to the Bcl-2 family.

Ontologies

Keywords
Biological process	Apoptosis
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	apoptotic process Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9HB09-1)

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.

Isoform 2 (identifier: Q9HB09-2)

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.

Isoform 3 (identifier: Q9HB09-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 334	334	Bcl-2-like protein 12		PRO_0000143072
Regions
	Motif	311 – 322	12	BH2
Amino acid modifications
	Modified residue	113	1	Phosphoserine Ref.5
	Modified residue	117	1	Phosphothreonine Ref.5
	Modified residue	121	1	Phosphoserine Ref.5
	Modified residue	242	1	Phosphoserine Ref.5 Ref.6 Ref.7
	Modified residue	243	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	120	1	Missing in isoform 3.		VSP_043269
	Alternative sequence	121 – 176	56	SPAQE…PDFYA → PSYSRLLCFGGPAAGTAGPR AAEISAQPRITGSPIDREGS HTAEAGGPAGGGGRSH in isoform 2.		VSP_000522
	Alternative sequence	177 – 334	158	Missing in isoform 2.		VSP_000523
	Natural variant	47	1	G → V. Corresponds to variant rs2060263 [ dbSNP | Ensembl ].		VAR_048419
Experimental info
	Sequence conflict	270	1	P → S in AAH07724. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 5398E54C83E7CAB7	FASTA	334	36,821
	10 20 30 40 50 60 MGRPAGLFPP LCPFLGFRPE ACWERHMQIE RAPSVPPFLR WAGYRPGPVR RRGKVELIKF 70 80 90 100 110 120 VRVQWRRPQV EWRRRRWGPG PGASMAGSEE LGLREDTLRV LAAFLRRGEA AGSPVPTPPR 130 140 150 160 170 180 SPAQEEPTDF LSRLRRCLPC SLGRGAAPSE SPRPCSLPIR PCYGLEPGPA TPDFYALVAQ 190 200 210 220 230 240 RLEQLVQEQL KSPPSPELQG PPSTEKEAIL RRLVALLEEE AEVINQKLAS DPALRSKLVR 250 260 270 280 290 300 LSSDSFARLV ELFCSRDDSS RPSRACPGPP PPSPEPLARL ALAMELSRRV AGLGGTLAGL 310 320 330 SVEHVHSFTP WIQAHGGWEG ILAVSPVDLN LPLD
	Isoform 2 [UniParc]. Checksum: DC503A642100CAE4	FASTA	176	19,133
	10 20 30 40 50 60 MGRPAGLFPP LCPFLGFRPE ACWERHMQIE RAPSVPPFLR WAGYRPGPVR RRGKVELIKF 70 80 90 100 110 120 VRVQWRRPQV EWRRRRWGPG PGASMAGSEE LGLREDTLRV LAAFLRRGEA AGSPVPTPPR 130 140 150 160 170 PSYSRLLCFG GPAAGTAGPR AAEISAQPRI TGSPIDREGS HTAEAGGPAG GGGRSH
	Isoform 3 [UniParc]. Checksum: AC8C106CC9D01518	FASTA	333	36,665
	10 20 30 40 50 60 MGRPAGLFPP LCPFLGFRPE ACWERHMQIE RAPSVPPFLR WAGYRPGPVR RRGKVELIKF 70 80 90 100 110 120 VRVQWRRPQV EWRRRRWGPG PGASMAGSEE LGLREDTLRV LAAFLRRGEA AGSPVPTPPS 130 140 150 160 170 180 PAQEEPTDFL SRLRRCLPCS LGRGAAPSES PRPCSLPIRP CYGLEPGPAT PDFYALVAQR 190 200 210 220 230 240 LEQLVQEQLK SPPSPELQGP PSTEKEAILR RLVALLEEEA EVINQKLASD PALRSKLVRL 250 260 270 280 290 300 SSDSFARLVE LFCSRDDSSR PSRACPGPPP PSPEPLARLA LAMELSRRVA GLGGTLAGLS 310 320 330 VEHVHSFTPW IQAHGGWEGI LAVSPVDLNL PLD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[5]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113; THR-117; SER-121 AND SER-242, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"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, MASS SPECTROMETRY.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00019835. IPI00216001. IPI00759647.
RefSeq	NP_001035758.1. NM_001040668.1. NP_619580.1. NM_138639.1.
UniGene	Hs.289052.
3D structure databases
ProteinModelPortal	Q9HB09.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HB09. 1 interaction.
STRING	9606.ENSP00000246785.
PTM databases
PhosphoSite	Q9HB09.
Polymorphism databases
DMDM	23396468.
Proteomic databases
PaxDb	Q9HB09.
PRIDE	Q9HB09.
Protocols and materials databases
DNASU	83596.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000246784; ENSP00000246784; ENSG00000126453. ENST00000246785; ENSP00000246785; ENSG00000126453. ENST00000441864; ENSP00000393803; ENSG00000126453.
GeneID	83596.
KEGG	hsa:83596.
UCSC	uc002ppa.3. human.
Organism-specific databases
CTD	83596.
GeneCards	GC19P050168.
HGNC	HGNC:13787. BCL2L12.
HPA	HPA020856.
MIM	610837. gene.
neXtProt	NX_Q9HB09.
PharmGKB	PA25306.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41154.
HOGENOM	HOG000294149.
HOVERGEN	HBG050647.
InParanoid	Q9HB09.
OMA	QEEPTDF.
OrthoDB	EOG4FTW1D.
PhylomeDB	Q9HB09.
Gene expression databases
Bgee	Q9HB09.
CleanEx	HS_BCL2L12.
Genevestigator	Q9HB09.
GermOnline	ENSG00000126453. Homo sapiens.
Family and domain databases
PROSITE	PS01258. BH2. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	BCL2L12. human.
GenomeRNAi	83596.
NextBio	72533.
SOURCE	Search...

Entry information

Entry name

B2L12_HUMAN

Accession

Primary (citable) accession number: Q9HB09
Secondary accession number(s): Q3SY11 , Q3SY13, Q96I96, Q9HB08

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	March 1, 2001
Last modified:	April 3, 2013
This is version 89 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.