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Q16548 (B2LA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Bcl-2-related protein A1
Alternative name(s):
Bcl-2-like protein 5
Short name=Bcl2-L-5
Hemopoietic-specific early response protein
Protein BFL-1
Protein GRS
Gene names
Name:BCL2A1
Synonyms:BCL2L5, BFL1, GRS, HBPA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length175 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection By similarity.

Subunit structure

Interacts directly with BAK1, BID, BMF and BBC3 By similarity. Interacts directly with BCL2L11/BIM. Interacts with BAX isoform Sigma Interacts directly with PMAIP1. Interacts with BOP/C22orf29. Ref.10 Ref.11

Subcellular location

Cytoplasm.

Tissue specificity

Seems to be restricted to the hematopoietic compartment. Expressed in peripheral blood, spleen, and bone marrow, at moderate levels in lung, small intestine and testis, at a minimal levels in other tissues. Also found in vascular smooth muscle cells and hematopoietic malignancies.

Induction

By phorbol ester and inflammatory cytokines, such as TNF or IL1B/interleukin-1 beta, but not by growth factors.

Sequence similarities

Belongs to the Bcl-2 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q16548-1)

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: Q16548-2)

The sequence of this isoform differs from the canonical sequence as follows:
     141-175: ENGFVKKFEPKSGWMTFLEVTGKICEMLSLLKQYC → GKWHNHTPMLVESVAHKKRKMAL

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 175175Bcl-2-related protein A1
PRO_0000143094

Regions

Motif77 – 9721BH1
Motif132 – 14716BH2
Compositional bias24 – 3310Ala/Pro-rich

Natural variations

Alternative sequence141 – 17535ENGFV…LKQYC → GKWHNHTPMLVESVAHKKRK MAL in isoform 2.
VSP_043106
Natural variant191C → Y. Ref.6
Corresponds to variant rs1138357 [ dbSNP | Ensembl ].
VAR_020342
Natural variant391N → K. Ref.6
Corresponds to variant rs1138358 [ dbSNP | Ensembl ].
VAR_020343
Natural variant821G → D. Ref.6
Corresponds to variant rs3826007 [ dbSNP | Ensembl ].
VAR_020344
Natural variant1171E → D.
Corresponds to variant rs34080999 [ dbSNP | Ensembl ].
VAR_044059

Experimental info

Sequence conflict721N → T in CAA70566. Ref.3
Sequence conflict1071Q → H in CAA70566. Ref.3

Secondary structure

................. 175
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 329D98AF2BE07A0D

FASTA17520,132
        10         20         30         40         50         60 
MTDCEFGYIY RLAQDYLQCV LQIPQPGSGP SKTSRVLQNV AFSVQKEVEK NLKSCLDNVN 

        70         80         90        100        110        120 
VVSVDTARTL FNQVMEKEFE DGIINWGRIV TIFAFEGILI KKLLRQQIAP DVDTYKEISY 

       130        140        150        160        170 
FVAEFIMNNT GEWIRQNGGW ENGFVKKFEP KSGWMTFLEV TGKICEMLSL LKQYC 

« Hide

Isoform 2 [UniParc].

Checksum: 200ED46EECAAF317
Show »

FASTA16318,746

References

« Hide 'large scale' references
[1]"A novel Bcl-2 related gene, Bfl-1, is overexpressed in stomach cancer and preferentially expressed in bone marrow."
Choi S.S., Park I.-C., Yun J.W., Sung Y.C., Hong S.-I., Shin H.-S.
Oncogene 11:1693-1698(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liver.
[2]"Cloning of human Bcl-2 homologue: inflammatory cytokines induce human A1 in cultured endothelial cells."
Karsan A., Yee E., Kaushansky K., Harlan J.M.
Blood 87:3089-3096(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Umbilical vein.
[3]"GRS, a novel member of the Bcl-2 gene family, is highly expressed in multiple cancer cell lines and in normal leukocytes."
Kenny J.J., Knobloch T.J., Augustus M., Carter K.C., Rosen C.A., Lang J.C.
Oncogene 14:997-1001(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: T-cell.
[4]"A widely expressed pro-apoptotic splice variant of the human A1 gene is specifically targeted to the nucleus."
Barnes F.A., Rowe S.J., Whyte M.K.B., Bingle C.D.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[5]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS TYR-19; LYS-39 AND ASP-82.
[7]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"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] (ISOFORM 1).
Tissue: Skin.
[10]"Characterization of Bax-sigma, a cell death-inducing isoform of Bax."
Schmitt E., Paquet C., Beauchemin M., Dever-Bertrand J., Bertrand R.
Biochem. Biophys. Res. Commun. 270:868-879(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BAX.
[11]"Human Bop is a novel BH3-only member of the Bcl-2 protein family."
Zhang X., Weng C., Li Y., Wang X., Jiang C., Li X., Xu Y., Chen Q., Pan L., Tang H.
Protein Cell 3:790-801(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BOP/C22ORF29.
[12]"Completing the family portrait of the anti-apoptotic Bcl-2 proteins: crystal structure of human Bfl-1 in complex with Bim."
Herman M.D., Nyman T., Welin M., Lehtio L., Flodin S., Tresaugues L., Kotenyova T., Flores A., Nordlund P.
FEBS Lett. 582:3590-3594(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 1-149 IN COMPLEX WITH BCL2L11/BIM.
[13]"Human BCL-2A1 in complex with BIM."
Structural genomics consortium (SGC)
Submitted (FEB-2008) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 149-608 IN COMPLEX WITH BCL2L11.
[14]"Crystal structure of human bfl-1 in complex with noxa bh3 peptide."
Northeast structural genomics consortium (NESG)
Submitted (JUL-2010) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (2.24 ANGSTROMS) OF 1-151 IN COMPLEX WITH PMAIP1.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U27467 mRNA. Translation: AAC50288.1.
U29680 mRNA. Translation: AAC50438.1.
Y09397 mRNA. Translation: CAA70566.1.
AY234180 mRNA. Translation: AAO89009.1.
BT007103 mRNA. Translation: AAP35767.1.
CR541937 mRNA. Translation: CAG46735.1.
CR541962 mRNA. Translation: CAG46760.1.
AC015871 Genomic DNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99129.1.
BC016281 mRNA. Translation: AAH16281.1.
CCDSCCDS10312.1. [Q16548-1]
CCDS45322.1. [Q16548-2]
PIRI39055.
RefSeqNP_001108207.1. NM_001114735.1. [Q16548-2]
NP_004040.1. NM_004049.3. [Q16548-1]
UniGeneHs.227817.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2VM6X-ray2.20A1-149[»]
3I1HX-ray2.20A1-151[»]
3MQPX-ray2.24A1-151[»]
ProteinModelPortalQ16548.
SMRQ16548. Positions 2-151.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107069. 13 interactions.
IntActQ16548. 5 interactions.
MINTMINT-89617.
STRING9606.ENSP00000267953.

Chemistry

BindingDBQ16548.
ChEMBLCHEMBL6044.

PTM databases

PhosphoSiteQ16548.

Polymorphism databases

DMDM2493280.

Proteomic databases

MaxQBQ16548.
PaxDbQ16548.
PRIDEQ16548.

Protocols and materials databases

DNASU597.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000267953; ENSP00000267953; ENSG00000140379. [Q16548-1]
ENST00000335661; ENSP00000335250; ENSG00000140379. [Q16548-2]
GeneID597.
KEGGhsa:597.
UCSCuc002bfc.4. human. [Q16548-1]
uc002bfd.4. human. [Q16548-2]

Organism-specific databases

CTD597.
GeneCardsGC15M080256.
HGNCHGNC:991. BCL2A1.
MIM601056. gene.
neXtProtNX_Q16548.
PharmGKBPA25303.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG244426.
HOGENOMHOG000059278.
HOVERGENHBG004840.
InParanoidQ16548.
KOK02162.
OMAYLKYVLQ.
OrthoDBEOG70GMGD.
PhylomeDBQ16548.
TreeFamTF315834.

Gene expression databases

BgeeQ16548.
CleanExHS_BCL2A1.
GenevestigatorQ16548.

Family and domain databases

InterProIPR002475. Bcl2-like.
IPR020717. Bcl2_BH1_motif_CS.
IPR020726. Bcl2_BH2_motif_CS.
IPR013282. Bcl2A1.
IPR026298. Blc2_fam.
[Graphical view]
PANTHERPTHR11256. PTHR11256. 1 hit.
PTHR11256:SF10. PTHR11256:SF10. 1 hit.
PfamPF00452. Bcl-2. 1 hit.
[Graphical view]
PRINTSPR01862. BCL2FAMILY.
PR01867. BCL2RLATEDA1.
PROSITEPS50062. BCL2_FAMILY. 1 hit.
PS01080. BH1. 1 hit.
PS01258. BH2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBCL2A1. human.
EvolutionaryTraceQ16548.
GeneWikiBCL2-related_protein_A1.
GenomeRNAi597.
NextBio2429.
PROQ16548.
SOURCESearch...

Entry information

Entry nameB2LA1_HUMAN
AccessionPrimary (citable) accession number: Q16548
Secondary accession number(s): Q6FGZ4 expand/collapse secondary AC list , Q6FH19, Q86W13, Q99524
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: July 9, 2014
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM