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Q16548

- B2LA1_HUMAN

UniProt

Q16548 - B2LA1_HUMAN

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Protein

Bcl-2-related protein A1

Gene

BCL2A1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. protein heterodimerization activity Source: RefGenome
  2. protein homodimerization activity Source: RefGenome

GO - Biological processi

  1. extrinsic apoptotic signaling pathway in absence of ligand Source: RefGenome
  2. intrinsic apoptotic signaling pathway in response to DNA damage Source: RefGenome
  3. negative regulation of apoptotic process Source: RefGenome
  4. negative regulation of intrinsic apoptotic signaling pathway Source: RefGenome
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: Chromosome 15

Organism-specific databases

HGNCiHGNC:991. BCL2A1.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial outer membrane Source: RefGenome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25303.

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

Protein-protein interaction databases

BioGridi107069. 13 interactions.
IntActiQ16548. 5 interactions.
MINTiMINT-89617.
STRINGi9606.ENSP00000267953.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
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. Align

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:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi2493280.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10312.1. [Q16548-1 ]
CCDS45322.1. [Q16548-2 ]
PIRi I39055.
RefSeqi NP_001108207.1. NM_001114735.1. [Q16548-2 ]
NP_004040.1. NM_004049.3. [Q16548-1 ]
UniGenei Hs.227817.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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 [» ]
ProteinModelPortali Q16548.
SMRi Q16548. Positions 2-151.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107069. 13 interactions.
IntActi Q16548. 5 interactions.
MINTi MINT-89617.
STRINGi 9606.ENSP00000267953.

Chemistry

BindingDBi Q16548.
ChEMBLi CHEMBL6044.

PTM databases

PhosphoSitei Q16548.

Polymorphism databases

DMDMi 2493280.

Proteomic databases

MaxQBi Q16548.
PaxDbi Q16548.
PRIDEi Q16548.

Protocols and materials databases

DNASUi 597.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000267953 ; ENSP00000267953 ; ENSG00000140379 . [Q16548-1 ]
ENST00000335661 ; ENSP00000335250 ; ENSG00000140379 . [Q16548-2 ]
GeneIDi 597.
KEGGi hsa:597.
UCSCi uc002bfc.4. human. [Q16548-1 ]
uc002bfd.4. human. [Q16548-2 ]

Organism-specific databases

CTDi 597.
GeneCardsi GC15M080256.
HGNCi HGNC:991. BCL2A1.
MIMi 601056. gene.
neXtProti NX_Q16548.
PharmGKBi PA25303.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG244426.
GeneTreei ENSGT00510000048456.
HOGENOMi HOG000059278.
HOVERGENi HBG004840.
InParanoidi Q16548.
KOi K02162.
OMAi YLKYVLQ.
OrthoDBi EOG70GMGD.
PhylomeDBi Q16548.
TreeFami TF315834.

Miscellaneous databases

ChiTaRSi BCL2A1. human.
EvolutionaryTracei Q16548.
GeneWikii BCL2-related_protein_A1.
GenomeRNAii 597.
NextBioi 2429.
PROi Q16548.
SOURCEi Search...

Gene expression databases

Bgeei Q16548.
CleanExi HS_BCL2A1.
Genevestigatori Q16548.

Family and domain databases

InterProi IPR002475. Bcl2-like.
IPR020717. Bcl2_BH1_motif_CS.
IPR020726. Bcl2_BH2_motif_CS.
IPR013282. Bcl2A1.
IPR026298. Blc2_fam.
[Graphical view ]
PANTHERi PTHR11256. PTHR11256. 1 hit.
PTHR11256:SF10. PTHR11256:SF10. 1 hit.
Pfami PF00452. Bcl-2. 1 hit.
[Graphical view ]
PRINTSi PR01862. BCL2FAMILY.
PR01867. BCL2RLATEDA1.
PROSITEi PS50062. BCL2_FAMILY. 1 hit.
PS01080. BH1. 1 hit.
PS01258. BH2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 141 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