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Protein

Brain and acute leukemia cytoplasmic protein

Gene

BAALC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A.By similarity

Enzyme and pathway databases

SIGNORiQ8WXS3

Names & Taxonomyi

Protein namesi
Recommended name:
Brain and acute leukemia cytoplasmic protein1 Publication
Gene namesi
Name:BAALC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000164929.16
HGNCiHGNC:14333 BAALC
MIMi606602 gene
neXtProtiNX_Q8WXS3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Postsynaptic cell membrane, Synapse, Synaptosome

Pathology & Biotechi

Organism-specific databases

DisGeNETi79870
OpenTargetsiENSG00000164929
PharmGKBiPA25230

Polymorphism and mutation databases

BioMutaiBAALC
DMDMi74730996

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00002482052 – 180Brain and acute leukemia cytoplasmic proteinAdd BLAST179

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycineBy similarity1
Lipidationi3S-palmitoyl cysteineBy similarity1

Post-translational modificationi

Palmitoylation and myristoylation target the protein to the lipid rafts.By similarity

Keywords - PTMi

Lipoprotein, Myristate, Palmitate

Proteomic databases

PeptideAtlasiQ8WXS3
PRIDEiQ8WXS3
ProteomicsDBi75088
75089 [Q8WXS3-2]
75090 [Q8WXS3-3]
75091 [Q8WXS3-4]
75092 [Q8WXS3-5]
75093 [Q8WXS3-6]

PTM databases

iPTMnetiQ8WXS3
PhosphoSitePlusiQ8WXS3

Expressioni

Tissue specificityi

Predominantly expressed in neuroectoderm-derived tissues. Expressed in the brain and spinal cord, and at low levels, in the adrenal gland. In the bone marrow, confined to the CD34+ progenitor cells. Not found in peripheral blood mononuclear cells, nor lymph nodes. Tends to be expressed at high levels in acute myeloid leukemia and glioblastoma cells.1 Publication

Gene expression databases

BgeeiENSG00000164929
CleanExiHS_BAALC
GenevisibleiQ8WXS3 HS

Organism-specific databases

HPAiHPA027132
HPA068307

Interactioni

Subunit structurei

Interacts with CAMK2A.By similarity

Protein-protein interaction databases

BioGridi122958, 11 interactors
IntActiQ8WXS3, 5 interactors
MINTiQ8WXS3

Structurei

3D structure databases

ProteinModelPortaliQ8WXS3
SMRiQ8WXS3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni4 – 36Interaction with CAMK2ABy similarityAdd BLAST33

Phylogenomic databases

GeneTreeiENSGT00390000013853
HOGENOMiHOG000253947
HOVERGENiHBG080887
InParanoidiQ8WXS3
OMAiEITKWQD
OrthoDBiEOG091G12CN
PhylomeDBiQ8WXS3
TreeFamiTF330767

Family and domain databases

InterProiView protein in InterPro
IPR009728 BAALC
PANTHERiPTHR14731 PTHR14731, 1 hit
PfamiView protein in Pfam
PF06989 BAALC_N, 1 hit

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WXS3-1) [UniParc]FASTAAdd to basket
Also known as: 1-5-6-8

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
MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG
60 70 80 90 100
LHSVLEAEKS KIKAPTDSVS DEGLFSASKM APLAVFSHGM LEDGLPSNGV
110 120 130 140 150
PRSTAPGGIP NPEKKTNCET QCPNPQSLSS GPLTQKQNGL QTTEAKRDAK
160 170 180
RMPAKEVTIN VTDSIQQMDR SRRITKNCVN
Note: No experimental confirmation available.
Length:180
Mass (Da):19,224
Last modified:January 23, 2007 - v3
Checksum:i380183E0F188F684
GO
Isoform 2 (identifier: Q8WXS3-2) [UniParc]FASTAAdd to basket
Also known as: 1-6-8

The sequence of this isoform differs from the canonical sequence as follows:
     54-88: Missing.

Show »
Length:145
Mass (Da):15,551
Checksum:iCFB92BBE283DD92E
GO
Isoform 3 (identifier: Q8WXS3-3) [UniParc]FASTAAdd to basket
Also known as: 1-5-6-7-8

The sequence of this isoform differs from the canonical sequence as follows:
     145-149: AKRDA → VLLPS
     150-180: Missing.

Note: No experimental confirmation available.
Show »
Length:149
Mass (Da):15,577
Checksum:iDB26C19969B91F6E
GO
Isoform 4 (identifier: Q8WXS3-4) [UniParc]FASTAAdd to basket
Also known as: 1-2

The sequence of this isoform differs from the canonical sequence as follows:
     54-80: VLEAEKSKIKAPTDSVSDEGLFSASKM → AHYPLAFALAWRDNSLGALLVQEGLCR
     81-180: Missing.

Note: No experimental confirmation available.
Show »
Length:80
Mass (Da):8,573
Checksum:i70BE9B91C3245E2D
GO
Isoform 5 (identifier: Q8WXS3-5) [UniParc]FASTAAdd to basket
Also known as: 1-4-5-6-8

The sequence of this isoform differs from the canonical sequence as follows:
     54-73: VLEAEKSKIKAPTDSVSDEG → GCLEEHYHLTALQKVGHPNH
     74-180: Missing.

Note: No experimental confirmation available.
Show »
Length:73
Mass (Da):7,871
Checksum:i98DBC2E6E6EF524A
GO
Isoform 6 (identifier: Q8WXS3-6) [UniParc]FASTAAdd to basket
Also known as: 1-8

The sequence of this isoform differs from the canonical sequence as follows:
     54-54: V → G
     55-180: Missing.

Show »
Length:54
Mass (Da):5,663
Checksum:iFEF0B4EABED9B829
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056741164S → T. Corresponds to variant dbSNP:rs34542607Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02019654 – 88Missing in isoform 2. 3 PublicationsAdd BLAST35
Alternative sequenceiVSP_02019954 – 80VLEAE…SASKM → AHYPLAFALAWRDNSLGALL VQEGLCR in isoform 4. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_02020154 – 73VLEAE…VSDEG → GCLEEHYHLTALQKVGHPNH in isoform 5. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_02020354V → G in isoform 6. 2 Publications1
Alternative sequenceiVSP_02020455 – 180Missing in isoform 6. 2 PublicationsAdd BLAST126
Alternative sequenceiVSP_02020274 – 180Missing in isoform 5. 1 PublicationAdd BLAST107
Alternative sequenceiVSP_02020081 – 180Missing in isoform 4. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_020197145 – 149AKRDA → VLLPS in isoform 3. 1 Publication5
Alternative sequenceiVSP_020198150 – 180Missing in isoform 3. 1 PublicationAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF371319 mRNA Translation: AAL50515.1
AF371323 mRNA Translation: AAL50519.1
AF363578 Genomic DNA Translation: AAL50377.1
AF363578 Genomic DNA Translation: AAL50378.1
AF363578 Genomic DNA Translation: AAL50379.1
AF363578 Genomic DNA Translation: AAL50380.1
AF363578 Genomic DNA Translation: AAL50381.1
AF363578 Genomic DNA Translation: AAL50382.1
AK022077 mRNA Translation: BAB13960.1
BC011517 mRNA Translation: AAH11517.1
BC035038 mRNA Translation: AAH35038.1
CCDSiCCDS47906.1 [Q8WXS3-6]
CCDS6297.1 [Q8WXS3-2]
RefSeqiNP_001019543.1, NM_001024372.1 [Q8WXS3-6]
NP_079088.1, NM_024812.2 [Q8WXS3-2]
UniGeneiHs.533446

Genome annotation databases

EnsembliENST00000297574; ENSP00000297574; ENSG00000164929 [Q8WXS3-1]
ENST00000306391; ENSP00000302559; ENSG00000164929 [Q8WXS3-4]
ENST00000309982; ENSP00000312457; ENSG00000164929 [Q8WXS3-2]
ENST00000330955; ENSP00000331579; ENSG00000164929 [Q8WXS3-5]
ENST00000438105; ENSP00000395024; ENSG00000164929 [Q8WXS3-6]
GeneIDi79870
KEGGihsa:79870
UCSCiuc003yld.4 human [Q8WXS3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBAALC_HUMAN
AccessioniPrimary (citable) accession number: Q8WXS3
Secondary accession number(s): Q8WTP6
, Q8WXS0, Q8WXS1, Q8WXS2, Q9HA93
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: January 23, 2007
Last modified: July 18, 2018
This is version 107 of the entry and version 3 of the sequence. See 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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

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