Q16548 (B2LA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

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	175 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Apoptosis
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	apoptotic process Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of apoptotic process Traceable author statement Ref.2. Source: ProtInc
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 175

175

Bcl-2-related protein A1

PRO_0000143094

Regions

Motif

77 – 97

21

BH1

Motif

132 – 147

16

BH2

Compositional bias

24 – 33

10

Ala/Pro-rich

Natural variations

Alternative sequence

141 – 175

35

ENGFV…LKQYC → GKWHNHTPMLVESVAHKKRK MAL in isoform 2.

VSP_043106

Natural variant

19

1

C → Y. Ref.6
Corresponds to variant rs1138357 [ dbSNP | Ensembl ].

VAR_020342

Natural variant

39

1

N → K. Ref.6
Corresponds to variant rs1138358 [ dbSNP | Ensembl ].

VAR_020343

Natural variant

82

1

G → D. Ref.6
Corresponds to variant rs3826007 [ dbSNP | Ensembl ].

VAR_020344

Natural variant

117

1

E → D.
Corresponds to variant rs34080999 [ dbSNP | Ensembl ].

VAR_044059

Experimental info

Sequence conflict

72

1

N → T in CAA70566. Ref.3

Sequence conflict

107

1

Q → H in CAA70566. Ref.3

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

175

Helix Strand Turn

Details...

Helix

1 – 20

20

Helix

32 – 51

20

Helix

53 – 56

4

Helix

64 – 79

16

Helix

86 – 106

21

Helix

113 – 115

3

Helix

116 – 136

21

Helix

139 – 142

4

Helix

144 – 148

5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 329D98AF2BE07A0D	FASTA	175	20,132
	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
	Isoform 2 [UniParc]. Checksum: 200ED46EECAAF317	FASTA	163	18,746
	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 FVAEFIMNNT GEWIRQNGGW GKWHNHTPML VESVAHKKRK MAL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

IPI

IPI00002881.

PIR

I39055.

RefSeq

NP_001108207.1. NM_001114735.1.
NP_004040.1. NM_004049.3.

UniGene

Hs.227817.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2VM6	X-ray	2.20	A	1-149	[»]
3I1H	X-ray	2.20	A	1-151	[»]
3MQP	X-ray	2.24	A	1-151	[»]

ProteinModelPortal

Q16548.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q16548. 4 interactions.

MINT

MINT-89617.

STRING

9606.ENSP00000267953.

PTM databases

PhosphoSite

Q16548.

Polymorphism databases

DMDM

2493280.

Proteomic databases

PaxDb

Q16548.

PRIDE

Q16548.

Protocols and materials databases

DNASU

597.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000267953; ENSP00000267953; ENSG00000140379.
ENST00000335661; ENSP00000335250; ENSG00000140379.

GeneID

597.

KEGG

hsa:597.

UCSC

uc002bfc.4. human.

Organism-specific databases

CTD

597.

GeneCards

GC15M080256.

HGNC

HGNC:991. BCL2A1.

MIM

601056. gene.

neXtProt

NX_Q16548.

PharmGKB

PA25303.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG244426.

HOGENOM

HOG000059278.

HOVERGEN

HBG004840.

InParanoid

Q16548.

KO

K02162.

OMA

NGGWENG.

OrthoDB

EOG43R3NS.

PhylomeDB

Q16548.

Enzyme and pathway databases

Pathway_Interaction_DB

bcr_5pathway. BCR signaling pathway.

Gene expression databases

Bgee

Q16548.

CleanEx

HS_BCL2A1.

Genevestigator

Q16548.

GermOnline

ENSG00000140379. Homo sapiens.

Family and domain databases

InterPro

IPR002475. Bcl2-like.
IPR020717. Bcl2_BH1_motif_CS.
IPR020726. Bcl2_BH2_motif_CS.
IPR013282. Bcl2A1.
IPR026298. Blc2_fam.
[Graphical view]

PANTHER

PTHR11256. PTHR11256. 1 hit.
PTHR11256:SF10. PTHR11256:SF10. 1 hit.

Pfam

PF00452. Bcl-2. 1 hit.
[Graphical view]

PRINTS

PR01862. BCL2FAMILY.
PR01867. BCL2RLATEDA1.

PROSITE

PS50062. BCL2_FAMILY. 1 hit.
PS01080. BH1. 1 hit.
PS01258. BH2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

BindingDB

Q16548.

ChEMBL

CHEMBL6044.

ChiTaRS

BCL2A1. human.

EvolutionaryTrace

Q16548.

GenomeRNAi

597.

NextBio

2429.

SOURCE

Search...

Entry information

Entry name

B2LA1_HUMAN

Accession

Primary (citable) accession number: Q16548
Secondary accession number(s): Q6FGZ4 , Q6FH19, Q86W13, Q99524

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1996
Last modified:	May 1, 2013
This is version 126 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.