Reviewed, UniProtKB/Swiss-Prot Q8WXS3 (BAALC_HUMAN)

Names and origin

Protein names

Recommended name:
    Brain and acute leukemia cytoplasmic protein

Gene names

Name:

BAALC

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	180 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	May play a synaptic role at the postsynaptic lipid rafts by interacting with CAMK2A By similarity.
Subunit structure	Interacts with CAMK2A By similarity.
Subcellular location	Cytoplasm. Membrane. Note: Postsynaptic lipid rafts By similarity.
Tissue specificity	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. Ref.1
Post-translational modification	Palmitoylation and myristoylation target the protein to the lipid rafts By similarity.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Lipoprotein Myristate Palmitate
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8WXS3-1)

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.

Isoform 2 (identifier: Q8WXS3-2)

Also known as: 1-6-8;

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

Isoform 3 (identifier: Q8WXS3-3)

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.

Isoform 4 (identifier: Q8WXS3-4)

Also known as: 1-2;

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

Isoform 5 (identifier: Q8WXS3-5)

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.

Isoform 6 (identifier: Q8WXS3-6)

Also known as: 1-8;

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 180	179	Brain and acute leukemia cytoplasmic protein		PRO_0000248205
Regions
	Region	4 – 36	33	Interaction with CAMK2A By similarity
Amino acid modifications
	Lipidation	2	1	N-myristoyl glycine By similarity
	Lipidation	3	1	S-palmitoyl cysteine By similarity
Natural variations
	Alternative sequence	54 – 88	35	Missing in isoform 2.		VSP_020196
	Alternative sequence	54 – 80	27	VLEAE…SASKM → AHYPLAFALAWRDNSLGALL VQEGLCR in isoform 4.		VSP_020199
	Alternative sequence	54 – 73	20	VLEAE…VSDEG → GCLEEHYHLTALQKVGHPNH in isoform 5.		VSP_020201
	Alternative sequence	54	1	V → G in isoform 6.		VSP_020203
	Alternative sequence	55 – 180	126	Missing in isoform 6.		VSP_020204
	Alternative sequence	74 – 180	107	Missing in isoform 5.		VSP_020202
	Alternative sequence	81 – 180	100	Missing in isoform 4.		VSP_020200
	Alternative sequence	145 – 149	5	AKRDA → VLLPS in isoform 3.		VSP_020197
	Alternative sequence	150 – 180	31	Missing in isoform 3.		VSP_020198
	Natural variant	164	1	S → T: dbSNP rs34542607.		VAR_056741

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (1-5-6-8) [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 380183E0F188F684	FASTA	180	19,224
	10 20 30 40 50 60 MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG LHSVLEAEKS 70 80 90 100 110 120 KIKAPTDSVS DEGLFSASKM APLAVFSHGM LEDGLPSNGV PRSTAPGGIP NPEKKTNCET 130 140 150 160 170 180 QCPNPQSLSS GPLTQKQNGL QTTEAKRDAK RMPAKEVTIN VTDSIQQMDR SRRITKNCVN
	Isoform 2 (1-6-8). Checksum: CFB92BBE283DD92E	FASTA	145	15,551
	10 20 30 40 50 60 MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG LHSGMLEDGL 70 80 90 100 110 120 PSNGVPRSTA PGGIPNPEKK TNCETQCPNP QSLSSGPLTQ KQNGLQTTEA KRDAKRMPAK 130 140 EVTINVTDSI QQMDRSRRIT KNCVN
	Isoform 3 (1-5-6-7-8). Checksum: DB26C19969B91F6E	FASTA	149	15,577
	10 20 30 40 50 60 MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG LHSVLEAEKS 70 80 90 100 110 120 KIKAPTDSVS DEGLFSASKM APLAVFSHGM LEDGLPSNGV PRSTAPGGIP NPEKKTNCET 130 140 QCPNPQSLSS GPLTQKQNGL QTTEVLLPS
	Isoform 4 (1-2). Checksum: 70BE9B91C3245E2D	FASTA	80	8,573
	10 20 30 40 50 60 MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG LHSAHYPLAF 70 80 ALAWRDNSLG ALLVQEGLCR
	Isoform 5 (1-4-5-6-8). Checksum: 98DBC2E6E6EF524A	FASTA	73	7,871
	10 20 30 40 50 60 MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG LHSGCLEEHY 70 HLTALQKVGH PNH
	Isoform 6 (1-8). Checksum: FEF0B4EABED9B829	FASTA	54	5,663
	10 20 30 40 50 MGCGGSRADA IEPRYYESWT RETESTWLTY TDSDAPPSAA APDSGPEAGG LHSG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 11707601] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [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: 14702039] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 6). Tissue: Brain.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00015704. IPI00103596. IPI00103600. IPI00183623. IPI00784789. IPI00785147.
RefSeq	NP_001019543.1. NP_079088.1.
UniGene	Hs.533446
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8WXS3. 1 interaction.
Proteomic databases
PRIDE	Q8WXS3.
Genome annotation databases
Ensembl	ENSG00000164929. Homo sapiens. [Contig view]
GeneID	79870.
KEGG	hsa:79870.
Organism-specific databases
GeneCards	GC08P104222.
HGNC	HGNC:14333. BAALC.
MIM	606602. gene.
PharmGKB	PA25230.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8WXS3.
HOVERGEN	Q8WXS3.
OMA	Q8WXS3. SRRITKN.
Gene expression databases
ArrayExpress	Q8WXS3.
Bgee	Q8WXS3.
CleanEx	HS_BAALC.
GermOnline	ENSG00000164929. Homo sapiens.
Family and domain databases
InterPro	IPR009728. BAALC. [Graphical view]
PANTHER	PTHR14731. BAALC. 1 hit.
Pfam	PF06989. BAALC_N. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	69631.
SOURCE	Search...

Entry information

Entry name

BAALC_HUMAN

Accession

Primary (citable) accession number: Q8WXS3
Secondary accession number(s): Q8WTP6 , Q8WXS0, Q8WXS1, Q8WXS2, Q9HA93

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 5, 2006
Last sequence update:	January 23, 2007
Last modified:	June 16, 2009
This is version 39 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)