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Protein

Brain and acute leukemia cytoplasmic protein

Gene

BAALC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

May play a synaptic role at the postsynaptic lipid rafts by interacting with CAMK2A.By similarity

Names & Taxonomyi

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

Organism-specific databases

HGNCiHGNC:14333. BAALC.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: MGI
  • membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25230.

Polymorphism and mutation databases

BioMutaiBAALC.
DMDMi74730996.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved
Chaini2 – 180179Brain and acute leukemia cytoplasmic proteinPRO_0000248205Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycineBy similarity
Lipidationi3 – 31S-palmitoyl cysteineBy similarity

Post-translational modificationi

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

Keywords - PTMi

Lipoprotein, Myristate, Palmitate

Proteomic databases

PRIDEiQ8WXS3.

PTM databases

PhosphoSiteiQ8WXS3.

Expressioni

Tissue specificityi

Expressed by neural and hematopoietic cells. Expression is found both in normal early progenitor cells and in the most immature type of blasts in acute leukemia but not in mature hematopoietic cells. Isoform 2 and isoform 6 are expressed in the brain. Isoform 2 shows a low expression in neuroectoderm-derived tissues such as adrenal gland and no expression in bone marrow, peripheral blood lymphocytes or lymph nodes, or in tumors or cancer cell lines of nonneural tissue origin.1 Publication

Gene expression databases

BgeeiQ8WXS3.
CleanExiHS_BAALC.
GenevisibleiQ8WXS3. HS.

Organism-specific databases

HPAiHPA027132.

Interactioni

Subunit structurei

Interacts with CAMK2A.By similarity

Protein-protein interaction databases

BioGridi122958. 3 interactions.
IntActiQ8WXS3. 3 interactions.
MINTiMINT-1479871.

Structurei

3D structure databases

ProteinModelPortaliQ8WXS3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni4 – 3633Interaction with CAMK2ABy similarityAdd
BLAST

Phylogenomic databases

GeneTreeiENSGT00390000013853.
HOGENOMiHOG000253947.
HOVERGENiHBG080887.
InParanoidiQ8WXS3.
OMAiSIQQMDR.
OrthoDBiEOG7D2FG6.
PhylomeDBiQ8WXS3.
TreeFamiTF330767.

Family and domain databases

InterProiIPR009728. BAALC.
[Graphical view]
PANTHERiPTHR14731. PTHR14731. 2 hits.
PfamiPF06989. BAALC_N. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti164 – 1641S → T.
Corresponds to variant rs34542607 [ dbSNP | Ensembl ].
VAR_056741

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei54 – 8835Missing in isoform 2. 3 PublicationsVSP_020196Add
BLAST
Alternative sequencei54 – 8027VLEAE…SASKM → AHYPLAFALAWRDNSLGALL VQEGLCR in isoform 4. 1 PublicationVSP_020199Add
BLAST
Alternative sequencei54 – 7320VLEAE…VSDEG → GCLEEHYHLTALQKVGHPNH in isoform 5. 1 PublicationVSP_020201Add
BLAST
Alternative sequencei54 – 541V → G in isoform 6. 2 PublicationsVSP_020203
Alternative sequencei55 – 180126Missing in isoform 6. 2 PublicationsVSP_020204Add
BLAST
Alternative sequencei74 – 180107Missing in isoform 5. 1 PublicationVSP_020202Add
BLAST
Alternative sequencei81 – 180100Missing in isoform 4. 1 PublicationVSP_020200Add
BLAST
Alternative sequencei145 – 1495AKRDA → VLLPS in isoform 3. 1 PublicationVSP_020197
Alternative sequencei150 – 18031Missing in isoform 3. 1 PublicationVSP_020198Add
BLAST

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

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.

3D structure databases

ProteinModelPortaliQ8WXS3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122958. 3 interactions.
IntActiQ8WXS3. 3 interactions.
MINTiMINT-1479871.

PTM databases

PhosphoSiteiQ8WXS3.

Polymorphism and mutation databases

BioMutaiBAALC.
DMDMi74730996.

Proteomic databases

PRIDEiQ8WXS3.

Protocols and materials databases

DNASUi79870.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi79870.
GeneCardsiBAALC.
HGNCiHGNC:14333. BAALC.
HPAiHPA027132.
MIMi606602. gene.
neXtProtiNX_Q8WXS3.
PharmGKBiPA25230.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000013853.
HOGENOMiHOG000253947.
HOVERGENiHBG080887.
InParanoidiQ8WXS3.
OMAiSIQQMDR.
OrthoDBiEOG7D2FG6.
PhylomeDBiQ8WXS3.
TreeFamiTF330767.

Miscellaneous databases

ChiTaRSiBAALC. human.
GenomeRNAii79870.
PROiQ8WXS3.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WXS3.
CleanExiHS_BAALC.
GenevisibleiQ8WXS3. HS.

Family and domain databases

InterProiIPR009728. BAALC.
[Graphical view]
PANTHERiPTHR14731. PTHR14731. 2 hits.
PfamiPF06989. BAALC_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia."
    Tanner S.M., Austin J.L., Leone G., Rush L.J., Plass C., Heinonen K., Mrozek K., Sill H., Knuutila S., Kolitz J.E., Archer K.J., Caligiuri M.A., Bloomfield C.D., de La Chapelle A.
    Proc. Natl. Acad. Sci. U.S.A. 98:13901-13906(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 3; 4; 5 AND 6), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Embryo.
  3. "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] (ISOFORMS 2 AND 6).
    Tissue: Brain.

Entry informationi

Entry nameiBAALC_HUMAN
AccessioniPrimary (citable) accession number: Q8WXS3
Secondary accession number(s): Q8WTP6
, Q8WXS0, Q8WXS1, Q8WXS2, Q9HA93
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: January 23, 2007
Last modified: June 8, 2016
This is version 93 of the entry and version 3 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

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

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 one 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.