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Protein

Breast carcinoma-amplified sequence 4

Gene

BCAS4

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

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Breast carcinoma-amplified sequence 4
Gene namesi
Name:BCAS4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000124243.17.
HGNCiHGNC:14367. BCAS4.

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

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving BCAS4 has been found in some breast carcinoma cell lines. Translocation t(17;20)(q23;q13) with BCAS3.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei60 – 61Breakpoint for translocation to form BCAS4-BCAS32

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi55653.
OpenTargetsiENSG00000124243.
PharmGKBiPA25287.

Polymorphism and mutation databases

BioMutaiBCAS4.
DMDMi33301030.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000648651 – 211Breast carcinoma-amplified sequence 4Add BLAST211

Proteomic databases

MaxQBiQ8TDM0.
PaxDbiQ8TDM0.
PeptideAtlasiQ8TDM0.
PRIDEiQ8TDM0.

PTM databases

iPTMnetiQ8TDM0.
PhosphoSitePlusiQ8TDM0.

Expressioni

Tissue specificityi

Brain, thymus, spleen, kidney and placenta. Overexpressed in most breast cancer cell lines.1 Publication

Gene expression databases

BgeeiENSG00000124243.
ExpressionAtlasiQ8TDM0. baseline and differential.
GenevisibleiQ8TDM0. HS.

Organism-specific databases

HPAiHPA038812.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
DPY30Q9C0054EBI-13025473,EBI-744973

Protein-protein interaction databases

BioGridi120785. 12 interactors.
IntActiQ8TDM0. 2 interactors.
STRINGi9606.ENSP00000351642.

Structurei

3D structure databases

ProteinModelPortaliQ8TDM0.
SMRiQ8TDM0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cappuccino family.Curated

Phylogenomic databases

eggNOGiENOG410IX4H. Eukaryota.
ENOG410XVQ5. LUCA.
GeneTreeiENSGT00390000006790.
HOVERGENiHBG099298.
InParanoidiQ8TDM0.
KOiK08366.
OMAiCSLADMI.
OrthoDBiEOG091G0YEV.
PhylomeDBiQ8TDM0.
TreeFamiTF326629.

Family and domain databases

InterProiView protein in InterPro
IPR024857. Cappuccino.
PANTHERiPTHR16230. PTHR16230. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TDM0-1) [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
MQRTGGGAPR PGRNHGLPGS LRQPDPVALL MLLVDADQPE PMRSGARELA
60 70 80 90 100
LFLTPEPGAE AKEVEETIEG MLLRLEEFCS LADLIRSDTS QILEENIPVL
110 120 130 140 150
KAKLTEMRGI YAKVDRLEAF VKMVGHHVAF LEADVLQAER DHGAFPQALR
160 170 180 190 200
RWLGSAGLPS FRNVECSGTI PARCNLRLPG SSDSPASASQ VAGITEVTCT
210
GARDVRAAHT V
Length:211
Mass (Da):22,758
Last modified:June 1, 2002 - v1
Checksum:iD16930DBC982AF5B
GO
Isoform 2 (identifier: Q8TDM0-2) [UniParc]FASTAAdd to basket

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

Show »
Length:147
Mass (Da):16,186
Checksum:i7F1A29A2869E676C
GO
Isoform 3 (identifier: Q8TDM0-3) [UniParc]FASTAAdd to basket

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

Show »
Length:203
Mass (Da):22,495
Checksum:iDC143F9B565EEC45
GO

Sequence cautioni

The sequence AAH38381 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91209 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAD53579 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01603156E → D. Corresponds to variant dbSNP:rs2272962Ensembl.1
Natural variantiVAR_059590173R → H. Corresponds to variant dbSNP:rs7273412Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007854119 – 147AFVKM…GAFPQ → KSPAPVPVTYELPTLYRTED YFPVDAGEA in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_007855148 – 211Missing in isoform 2. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_015289164 – 203VECSG…CTGAR → KSPAPVPVTYELPTLYRTED YFPVDAGEAQHHPRTCPRPL in isoform 3. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_015290204 – 211Missing in isoform 3. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS13432.2. [Q8TDM0-3]
CCDS33487.1. [Q8TDM0-1]
RefSeqiNP_001010974.1. NM_001010974.2.
NP_060313.3. NM_017843.4. [Q8TDM0-1]
NP_942094.2. NM_198799.3. [Q8TDM0-3]
XP_011527189.1. XM_011528887.2. [Q8TDM0-3]
UniGeneiHs.381178.

Genome annotation databases

EnsembliENST00000358791; ENSP00000351642; ENSG00000124243. [Q8TDM0-1]
ENST00000371608; ENSP00000360669; ENSG00000124243. [Q8TDM0-3]
GeneIDi55653.
KEGGihsa:55653.
UCSCiuc002xvq.4. human. [Q8TDM0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBCAS4_HUMAN
AccessioniPrimary (citable) accession number: Q8TDM0
Secondary accession number(s): Q5TD52
, Q5TD53, Q5TD54, Q5U5K7, Q5XKE8, Q8IXI7, Q8NEZ6, Q8TDL9, Q9NX13, Q9Y511
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: June 1, 2002
Last modified: September 27, 2017
This is version 123 of the entry and version 1 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 20
    Human chromosome 20: 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. SIMILARITY comments
    Index of protein domains and families