Reviewed, UniProtKB/Swiss-Prot Q8TDM0 (BCAS4_HUMAN)

Names and origin

Protein names

Recommended name:
    Breast carcinoma-amplified sequence 4

Gene names

Name:

BCAS4

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	211 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Subcellular location	Cytoplasm Potential.
Tissue specificity	Brain, thymus, spleen, kidney and placenta. Overexpressed in most breast cancer cell lines. Ref.1
Involvement in disease	A chromosomal aberration involving BCAS4 may be a cause of breast cancer. Translocation t(17;20)(q23;q13) with BCAS3.
Sequence similarities	Belongs to the cappuccino family.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Proto-oncogene
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TDM0-1)

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: Q8TDM0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     119-147: AFVKMVGHHVAFLEADVLQAERDHGAFPQ → KSPAPVPVTYELPTLYRTEDYFPVDAGEA
     148-211: Missing.

Isoform 3 (identifier: Q8TDM0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     164-203: VECSGTIPAR...ITEVTCTGAR → KSPAPVPVTY...HHPRTCPRPL
     204-211: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 211	211	Breast carcinoma-amplified sequence 4		PRO_0000064865
Sites
	Site	60 – 61	2	Breakpoint for translocation to form BCAS4-BCAS3
Natural variations
	Alternative sequence	119 – 147	29	AFVKM…GAFPQ → KSPAPVPVTYELPTLYRTED YFPVDAGEA in isoform 2.		VSP_007854
	Alternative sequence	148 – 211	64	Missing in isoform 2.		VSP_007855
	Alternative sequence	164 – 203	40	VECSG…CTGAR → KSPAPVPVTYELPTLYRTED YFPVDAGEAQHHPRTCPRPL in isoform 3.		VSP_015289
	Alternative sequence	204 – 211	8	Missing in isoform 3.		VSP_015290
	Natural variant	56	1	E → D: dbSNP rs2272962.		VAR_016031
	Natural variant	173	1	R → H: dbSNP rs7273412.		VAR_059590

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: D16930DBC982AF5B	FASTA	211	22,758
	10 20 30 40 50 60 MQRTGGGAPR PGRNHGLPGS LRQPDPVALL MLLVDADQPE PMRSGARELA LFLTPEPGAE 70 80 90 100 110 120 AKEVEETIEG MLLRLEEFCS LADLIRSDTS QILEENIPVL KAKLTEMRGI YAKVDRLEAF 130 140 150 160 170 180 VKMVGHHVAF LEADVLQAER DHGAFPQALR RWLGSAGLPS FRNVECSGTI PARCNLRLPG 190 200 210 SSDSPASASQ VAGITEVTCT GARDVRAAHT V
	Isoform 2. Checksum: 7F1A29A2869E676C	FASTA	147	16,186
	10 20 30 40 50 60 MQRTGGGAPR PGRNHGLPGS LRQPDPVALL MLLVDADQPE PMRSGARELA LFLTPEPGAE 70 80 90 100 110 120 AKEVEETIEG MLLRLEEFCS LADLIRSDTS QILEENIPVL KAKLTEMRGI YAKVDRLEKS 130 140 PAPVPVTYEL PTLYRTEDYF PVDAGEA
	Isoform 3. Checksum: DC143F9B565EEC45	FASTA	203	22,495
	10 20 30 40 50 60 MQRTGGGAPR PGRNHGLPGS LRQPDPVALL MLLVDADQPE PMRSGARELA LFLTPEPGAE 70 80 90 100 110 120 AKEVEETIEG MLLRLEEFCS LADLIRSDTS QILEENIPVL KAKLTEMRGI YAKVDRLEAF 130 140 150 160 170 180 VKMVGHHVAF LEADVLQAER DHGAFPQALR RWLGSAGLPS FRNKSPAPVP VTYELPTLYR 190 200 TEDYFPVDAG EAQHHPRTCP RPL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer." Baerlund M., Monni O., Weaver J.D., Kauraniemi P., Sauter G., Heiskanen M., Kallioniemi O.-P., Kallioniemi A. Genes Chromosomes Cancer 35:311-317(2002) [PubMed: 12378525] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH BCAS3. Tissue: Liver.
[2]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] OF 14-211 (ISOFORM 1).
[4]	"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] OF 25-211 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-211 (ISOFORM 3). Tissue: Lymph.
[5]	"Cloning and sequencing of a new BCAS4 isoform (BCAS4 isoform 1)." Bauer M. Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 27-211 (ISOFORM 2).

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF361220 mRNA. Translation: AAL99633.1. AF361221 mRNA. Translation: AAL99634.1. Different termination. AL031680, AL133228 Genomic DNA. Translation: CAI23006.1. AL031680, AL133228 Genomic DNA. Translation: CAI23007.2. AL031680, AL133228 Genomic DNA. Translation: CAI23008.1. AL133228, AL031680 Genomic DNA. Translation: CAI19061.1. AL133228, AL031680 Genomic DNA. Translation: CAI19062.2. AL133228, AL031680 Genomic DNA. Translation: CAI19063.1. AK000502 mRNA. Translation: BAA91209.1. Different initiation. BC038381 mRNA. Translation: AAH38381.1. Different initiation. BC047337 mRNA. Translation: AAH47337.1. AJ511266 mRNA. Translation: CAD53579.1. Different initiation.
IPI	IPI00333686. IPI00333687. IPI00394798.
RefSeq	NP_001010974.1. NP_060313.3. NP_942094.2.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q8TDM0.
Proteomic databases
PRIDE	Q8TDM0.
Genome annotation databases
Ensembl	ENST00000358791; ENSP00000351642; ENSG00000124243; Homo sapiens. [Genome view]
GeneID	55653.
KEGG	hsa:55653.
UCSC	uc002xvp.1. human. uc002xvq.1. human. uc002xvr.1. human.
Organism-specific databases
CTD	55653.
GeneCards	GC20P048844.
H-InvDB	HIX0021299.
HGNC	HGNC:14367. BCAS4.
MIM	607471. gene.
PharmGKB	PA25287.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16087.
InParanoid	Q8TDM0.
OMA	KAKVTEM.
OrthoDB	EOG94TRT6.
Gene expression databases
ArrayExpress	Q8TDM0.
Bgee	Q8TDM0.
Genevestigator	Q8TDM0.
GermOnline	ENSG00000124243. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	60359.
SOURCE	Search...

Entry information

Entry name

BCAS4_HUMAN

Accession

Primary (citable) accession number: Q8TDM0
Secondary accession number(s): Q5TD52 , Q5TD53, Q5TD54, Q5U5K7, Q5XKE8, Q8IXI7, Q8NEZ6, Q8TDL9, Q9NX13, Q9Y511

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2003
Last sequence update:	June 1, 2002
Last modified:	January 19, 2010
This is version 68 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.