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Protein

Bcl-2-related protein A1

Gene

BCL2A1

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

Functioni

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).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Apoptosis

Names & Taxonomyi

Protein namesi
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 namesi
Name:BCL2A1
Synonyms:BCL2L5, BFL1, GRS, HBPA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:991. BCL2A1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25303.

Polymorphism and mutation databases

BioMutaiBCL2A1.
DMDMi2493280.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 175175Bcl-2-related protein A1PRO_0000143094Add
BLAST

Proteomic databases

MaxQBiQ16548.
PaxDbiQ16548.
PRIDEiQ16548.

PTM databases

PhosphoSiteiQ16548.

Expressioni

Tissue specificityi

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.

Inductioni

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

Gene expression databases

BgeeiQ16548.
CleanExiHS_BCL2A1.
GenevestigatoriQ16548.

Interactioni

Subunit structurei

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.By similarity5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BAK1Q166113EBI-1003550,EBI-519866
BIKQ133233EBI-1003550,EBI-700794
FAM9BQ8IZU03EBI-1003550,EBI-10175124

Protein-protein interaction databases

BioGridi107069. 16 interactions.
IntActiQ16548. 8 interactions.
MINTiMINT-89617.
STRINGi9606.ENSP00000267953.

Structurei

Secondary structure

175
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1 – 2020Combined sources
Helixi32 – 5120Combined sources
Helixi53 – 564Combined sources
Helixi64 – 7916Combined sources
Helixi86 – 10621Combined sources
Helixi113 – 1153Combined sources
Helixi116 – 13621Combined sources
Helixi139 – 1424Combined sources
Helixi144 – 1485Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2VM6X-ray2.20A1-149[»]
3I1HX-ray2.20A1-151[»]
3MQPX-ray2.24A1-151[»]
ProteinModelPortaliQ16548.
SMRiQ16548. Positions 2-151.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ16548.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi77 – 9721BH1Add
BLAST
Motifi132 – 14716BH2Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi24 – 3310Ala/Pro-rich

Sequence similaritiesi

Belongs to the Bcl-2 family.Curated

Phylogenomic databases

eggNOGiNOG244426.
GeneTreeiENSGT00510000048456.
HOGENOMiHOG000059278.
HOVERGENiHBG004840.
InParanoidiQ16548.
KOiK02162.
OMAiYLKYVLQ.
OrthoDBiEOG70GMGD.
PhylomeDBiQ16548.
TreeFamiTF315834.

Family and domain databases

InterProiIPR002475. Bcl2-like.
IPR020717. Bcl2_BH1_motif_CS.
IPR020726. Bcl2_BH2_motif_CS.
IPR013282. Bcl2A1.
IPR026298. Blc2_fam.
[Graphical view]
PANTHERiPTHR11256. PTHR11256. 1 hit.
PTHR11256:SF10. PTHR11256:SF10. 1 hit.
PfamiPF00452. Bcl-2. 1 hit.
[Graphical view]
PRINTSiPR01862. BCL2FAMILY.
PR01867. BCL2RLATEDA1.
PROSITEiPS50062. BCL2_FAMILY. 1 hit.
PS01080. BH1. 1 hit.
PS01258. BH2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16548-1) [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
MTDCEFGYIY RLAQDYLQCV LQIPQPGSGP SKTSRVLQNV AFSVQKEVEK
60 70 80 90 100
NLKSCLDNVN VVSVDTARTL FNQVMEKEFE DGIINWGRIV TIFAFEGILI
110 120 130 140 150
KKLLRQQIAP DVDTYKEISY FVAEFIMNNT GEWIRQNGGW ENGFVKKFEP
160 170
KSGWMTFLEV TGKICEMLSL LKQYC
Length:175
Mass (Da):20,132
Last modified:November 1, 1996 - v1
Checksum:i329D98AF2BE07A0D
GO
Isoform 2 (identifier: Q16548-2) [UniParc]FASTAAdd to basket

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

Show »
Length:163
Mass (Da):18,746
Checksum:i200ED46EECAAF317
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti72 – 721N → T in CAA70566 (PubMed:9050999).Curated
Sequence conflicti107 – 1071Q → H in CAA70566 (PubMed:9050999).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191C → Y.1 Publication
Corresponds to variant rs1138357 [ dbSNP | Ensembl ].
VAR_020342
Natural varianti39 – 391N → K.1 Publication
Corresponds to variant rs1138358 [ dbSNP | Ensembl ].
VAR_020343
Natural varianti82 – 821G → D.1 Publication
Corresponds to variant rs3826007 [ dbSNP | Ensembl ].
VAR_020344
Natural varianti117 – 1171E → D.
Corresponds to variant rs34080999 [ dbSNP | Ensembl ].
VAR_044059

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei141 – 17535ENGFV…LKQYC → GKWHNHTPMLVESVAHKKRK MAL in isoform 2. 1 PublicationVSP_043106Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10312.1. [Q16548-1]
CCDS45322.1. [Q16548-2]
PIRiI39055.
RefSeqiNP_001108207.1. NM_001114735.1. [Q16548-2]
NP_004040.1. NM_004049.3. [Q16548-1]
UniGeneiHs.227817.

Genome annotation databases

EnsembliENST00000267953; ENSP00000267953; ENSG00000140379. [Q16548-1]
ENST00000335661; ENSP00000335250; ENSG00000140379. [Q16548-2]
GeneIDi597.
KEGGihsa:597.
UCSCiuc002bfc.4. human. [Q16548-1]
uc002bfd.4. human. [Q16548-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10312.1. [Q16548-1]
CCDS45322.1. [Q16548-2]
PIRiI39055.
RefSeqiNP_001108207.1. NM_001114735.1. [Q16548-2]
NP_004040.1. NM_004049.3. [Q16548-1]
UniGeneiHs.227817.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2VM6X-ray2.20A1-149[»]
3I1HX-ray2.20A1-151[»]
3MQPX-ray2.24A1-151[»]
ProteinModelPortaliQ16548.
SMRiQ16548. Positions 2-151.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107069. 16 interactions.
IntActiQ16548. 8 interactions.
MINTiMINT-89617.
STRINGi9606.ENSP00000267953.

Chemistry

BindingDBiQ16548.
ChEMBLiCHEMBL6044.

PTM databases

PhosphoSiteiQ16548.

Polymorphism and mutation databases

BioMutaiBCL2A1.
DMDMi2493280.

Proteomic databases

MaxQBiQ16548.
PaxDbiQ16548.
PRIDEiQ16548.

Protocols and materials databases

DNASUi597.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267953; ENSP00000267953; ENSG00000140379. [Q16548-1]
ENST00000335661; ENSP00000335250; ENSG00000140379. [Q16548-2]
GeneIDi597.
KEGGihsa:597.
UCSCiuc002bfc.4. human. [Q16548-1]
uc002bfd.4. human. [Q16548-2]

Organism-specific databases

CTDi597.
GeneCardsiGC15M080256.
HGNCiHGNC:991. BCL2A1.
MIMi601056. gene.
neXtProtiNX_Q16548.
PharmGKBiPA25303.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG244426.
GeneTreeiENSGT00510000048456.
HOGENOMiHOG000059278.
HOVERGENiHBG004840.
InParanoidiQ16548.
KOiK02162.
OMAiYLKYVLQ.
OrthoDBiEOG70GMGD.
PhylomeDBiQ16548.
TreeFamiTF315834.

Miscellaneous databases

ChiTaRSiBCL2A1. human.
EvolutionaryTraceiQ16548.
GeneWikiiBCL2-related_protein_A1.
GenomeRNAii597.
NextBioi2429.
PROiQ16548.
SOURCEiSearch...

Gene expression databases

BgeeiQ16548.
CleanExiHS_BCL2A1.
GenevestigatoriQ16548.

Family and domain databases

InterProiIPR002475. Bcl2-like.
IPR020717. Bcl2_BH1_motif_CS.
IPR020726. Bcl2_BH2_motif_CS.
IPR013282. Bcl2A1.
IPR026298. Blc2_fam.
[Graphical view]
PANTHERiPTHR11256. PTHR11256. 1 hit.
PTHR11256:SF10. PTHR11256:SF10. 1 hit.
PfamiPF00452. Bcl-2. 1 hit.
[Graphical view]
PRINTSiPR01862. BCL2FAMILY.
PR01867. BCL2RLATEDA1.
PROSITEiPS50062. BCL2_FAMILY. 1 hit.
PS01080. BH1. 1 hit.
PS01258. BH2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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.

Entry informationi

Entry nameiB2LA1_HUMAN
AccessioniPrimary (citable) accession number: Q16548
Secondary accession number(s): Q6FGZ4
, Q6FH19, Q86W13, Q99524
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: April 29, 2015
This is version 145 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.