BCAS1

Summary

BCAS1 (brain enriched myelin associated protein 1, HGNC:974) is a protein-coding gene on chromosome 20q13.2, encoding Breast carcinoma-amplified sequence 1 (O75363). Required for myelination.

This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene.

Source: NCBI Gene 8537 — RefSeq curated summary.

At a glance

• GWAS associations: 33
• Clinical variants (ClinVar): 99 total
• MANE Select transcript: NM_001366298

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:974
Approved symbol	BCAS1
Name	brain enriched myelin associated protein 1
Location	20q13.2
Locus type	gene with protein product
Status	Approved
Aliases	NABC1, AIBC1, PMES-2
Ensembl gene	ENSG00000064787
Ensembl biotype	protein_coding
OMIM	602968
Entrez	8537

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 19 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000371435, ENST00000395961, ENST00000422805, ENST00000448484, ENST00000685429, ENST00000685741, ENST00000686565, ENST00000688711, ENST00000688948, ENST00000689476, ENST00000690125, ENST00000879784, ENST00000879785, ENST00000879786, ENST00000879787, ENST00000960232, ENST00000960233, ENST00000960234, ENST00000960235, ENST00000960236

RefSeq mRNA: 7 — MANE Select: NM_001366298 NM_001316361, NM_001323347, NM_001366295, NM_001366296, NM_001366297, NM_001366298, NM_003657

CCDS: CCDS13444, CCDS82631, CCDS93061

Canonical transcript exons

ENST00000688948 — 13 exons

Exon	Start	End
ENSE00000662837	53953432	53953695
ENSE00000662838	53957432	53957497
ENSE00000662839	53966906	53967073
ENSE00000662840	53985287	53985499
ENSE00000662841	53995012	53995056
ENSE00001022753	53975389	53975430
ENSE00001455220	53943541	53944996
ENSE00001455230	53992512	53992646
ENSE00001624940	54028392	54028972
ENSE00001784114	53995892	53996050
ENSE00001835333	54070433	54070594
ENSE00003714232	54058647	54058723
ENSE00003754722	54058085	54058154

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 99.81.

FANTOM5 (CAGE): breadth broad, TPM avg 21.4140 / max 2143.1224, expressed in 385 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188058	16.1980	116
188063	3.0315	181
188059	1.3827	81
188056	0.3251	53
188061	0.1907	60
188062	0.1257	80
188055	0.0906	34
188057	0.0696	28

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	99.81	gold quality
spinal cord	UBERON:0002240	99.68	gold quality
inferior vagus X ganglion	UBERON:0005363	99.65	gold quality
corpus callosum	UBERON:0002336	99.43	gold quality
ventral tegmental area	UBERON:0002691	99.27	gold quality
superior vestibular nucleus	UBERON:0007227	99.27	gold quality
pons	UBERON:0000988	99.24	gold quality
middle frontal gyrus	UBERON:0002702	99.24	gold quality
medial globus pallidus	UBERON:0002477	99.23	gold quality
cranial nerve II	UBERON:0000941	99.22	gold quality
globus pallidus	UBERON:0001875	99.10	gold quality
amygdala	UBERON:0001876	99.03	gold quality
subthalamic nucleus	UBERON:0001906	98.97	gold quality
medulla oblongata	UBERON:0001896	98.94	gold quality
putamen	UBERON:0001874	98.80	gold quality
midbrain	UBERON:0001891	98.79	gold quality
substantia nigra	UBERON:0002038	98.74	gold quality
lateral globus pallidus	UBERON:0002476	98.00	gold quality
dorsal plus ventral thalamus	UBERON:0001897	97.97	gold quality
caudate nucleus	UBERON:0001873	97.80	gold quality
nucleus accumbens	UBERON:0001882	97.75	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	97.75	gold quality
olfactory bulb	UBERON:0002264	97.71	gold quality
hypothalamus	UBERON:0001898	97.48	gold quality
trigeminal ganglion	UBERON:0001675	97.35	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.25	gold quality
substantia nigra pars compacta	UBERON:0001965	97.17	gold quality
cingulate cortex	UBERON:0003027	96.84	gold quality
anterior cingulate cortex	UBERON:0009835	96.81	gold quality
Ammon’s horn	UBERON:0001954	96.67	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	7009.36
E-GEOD-135922	yes	1267.52
E-GEOD-125970	yes	24.66
E-GEOD-84465	yes	22.70
E-ANND-3	yes	15.35
E-MTAB-8410	yes	13.08

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NCOA2

miRNA regulators (miRDB)

60 targeting BCAS1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-10399-5P	99.17	69.87	2610

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Bcas1	ENSMUSG00000013523
rattus_norvegicus	Bcas1	ENSRNOG00000012906

Protein

Protein identifiers

Breast carcinoma-amplified sequence 1 — O75363 (reviewed: O75363)

Alternative names: Amplified and overexpressed in breast cancer, Novel amplified in breast cancer 1

All UniProt accessions (10): O75363, A0A8I5KRZ2, A0A8I5KSK1, A0A8I5KUN3, A0A8I5KX57, B4DFL4, B4DHY3, G3XAF7, H0Y542, H7C1E7

UniProt curated annotations — full annotation on UniProt →

Function. Required for myelination.

Subunit / interactions. Homodimer. Interacts with DYNLL1 and DYNLL2.

Subcellular location. Cytoplasm.

Tissue specificity. Highly expressed in the brain and, more specifically, in oligodendrocytes (at protein level). Expressed in the prostate, and at lower levels in testis, intestine and colon. Overexpressed in most breast cancer cell lines and down-regulated in some colorectal tumors.

Isoforms (2)

UniProt ID	Names	Canonical?
O75363-1	1	yes
O75363-2	2, 5B

RefSeq proteins (7): NP_001303290, NP_001310276, NP_001353224, NP_001353225, NP_001353226, NP_001353227, NP_003648 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026115	NABC1	Family

UniProt features (34 total): compositionally biased region 11, modified residue 7, region of interest 5, sequence variant 5, splice variant 4, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75363-F1	51.00	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (7): 124, 192, 314, 381, 399, 480, 552

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 119 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, BECKER_TAMOXIFEN_RESISTANCE_UP, GOZGIT_ESR1_TARGETS_DN, CHANDRAN_METASTASIS_DN, MODULE_66, GOBP_ENSHEATHMENT_OF_NEURONS, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, MODULE_48, MODULE_11, MODULE_95, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, ZHENG_GLIOBLASTOMA_PLASTICITY_UP, GTATTAT_MIR3693P, MODULE_12

GO Biological Process (1): myelination (GO:0042552)

GO Molecular Function (0):

GO Cellular Component (2): cytoplasm (GO:0005737), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
axon ensheathment	1
intracellular anatomical structure	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

1302 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BCAS1	QKI	Q96PU8	868
BCAS1	ZNF217	O75362	840
BCAS1	PLP1	P04400	695
BCAS1	RBPMS	Q93062	634
BCAS1	ENPP6	Q6UWR7	564
BCAS1	SOX10	P56693	560
BCAS1	LIMS2	Q7Z4I7	544
BCAS1	ATN1	P54259	493
BCAS1	GPR17	Q13304	465
BCAS1	PLRG1	O43660	441
BCAS1	CDC5L	Q99459	430
BCAS1	KHDRBS1	Q07666	427
BCAS1	KBTBD2	Q8IY47	399
BCAS1	PPP1R14D	Q9NXH3	357
BCAS1	OLIG2	Q13516	354

IntAct

8 interactions, top by confidence:

A	B	Type	Score
CFTR	BCAS1	psi-mi:“MI:0915”(physical association)	0.370
MAPT	LANCL1	psi-mi:“MI:0914”(association)	0.350
PRNP	CARNS1	psi-mi:“MI:0914”(association)	0.350
PRNP	WDR91	psi-mi:“MI:0914”(association)	0.350
GGN	BCAS1	psi-mi:“MI:0914”(association)	0.350
BCAS1	RUVBL2	psi-mi:“MI:0915”(physical association)	0.000
BCAS1	DYNLL1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): DYNLL1 (Affinity Capture-MS), RUVBL2 (Affinity Capture-MS), BCAS1 (Affinity Capture-MS), BCAS1 (Affinity Capture-Western), BCAS1 (Reconstituted Complex), BCAS1 (Affinity Capture-MS), BCAS1 (Affinity Capture-MS), BCAS1 (Proximity Label-MS), BCAS1 (PCA), BCAS1 (Cross-Linking-MS (XL-MS)), BCAS1 (Affinity Capture-MS), ARRB2 (Affinity Capture-Western), ARRB2 (Two-hybrid), BCAS1 (Affinity Capture-Western), BCAS1 (Two-hybrid)

ESM2 similar proteins: A2A995, A2ALU4, A4IGN8, A6NMK8, D3ZUI5, E1C2Q8, F1QGH6, O54931, O75128, O75363, O75410, O95425, P24275, P24588, P51827, Q1LWM5, Q1RMS0, Q1W617, Q3UHI0, Q3UMF0, Q3ZB98, Q499V8, Q53SF7, Q5JR59, Q5NBX1, Q5VWT5, Q5ZJ26, Q62394, Q66KC9, Q673G8, Q69ZL1, Q6GQV1, Q6INC4, Q6QZN6, Q6WKZ4, Q6Y685, Q7TP36, Q7TS75, Q80YN3, Q8BI29

Diamond homologs: O75363, Q3ZB98, Q80YN3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

99 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	68
Likely benign	8
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

2014 predictions. Top by Δscore:

Variant	Effect	Δscore
20:53953427:CCTA:C	donor_loss	1.0000
20:53953428:CTA:C	donor_loss	1.0000
20:53953430:A:AC	donor_gain	1.0000
20:53953430:A:T	donor_loss	1.0000
20:53953431:C:CC	donor_gain	1.0000
20:53953431:CCAGG:C	donor_gain	1.0000
20:53985282:CTTA:C	donor_loss	1.0000
20:53985283:TTA:T	donor_loss	1.0000
20:53985284:TA:T	donor_loss	1.0000
20:53985285:A:AC	donor_gain	1.0000
20:53985285:A:T	donor_loss	1.0000
20:53985286:C:CC	donor_gain	1.0000
20:53985286:CCT:C	donor_gain	1.0000
20:53985496:CACC:C	acceptor_gain	1.0000
20:53985498:CC:C	acceptor_gain	1.0000
20:53985499:CC:C	acceptor_gain	1.0000
20:53985500:C:T	acceptor_gain	1.0000
20:53985500:CTAA:C	acceptor_loss	1.0000
20:53985501:T:A	acceptor_loss	1.0000
20:53985507:G:GC	acceptor_gain	1.0000
20:53985508:T:C	acceptor_gain	1.0000
20:53985508:T:TC	acceptor_gain	1.0000
20:53993506:T:TA	donor_gain	1.0000
20:53995058:T:C	acceptor_gain	1.0000
20:53995886:GCTTA:G	donor_loss	1.0000
20:53995887:CTTA:C	donor_loss	1.0000
20:53995888:TTA:T	donor_loss	1.0000
20:53995889:TACC:T	donor_loss	1.0000
20:53995890:A:AC	donor_gain	1.0000
20:53995890:A:T	donor_loss	1.0000

AlphaMissense

4105 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:53995904:G:C	F290L	0.960
20:53995904:G:T	F290L	0.960
20:53995906:A:G	F290L	0.960
20:53985296:A:C	F377L	0.951
20:53985296:A:T	F377L	0.951
20:53985298:A:G	F377L	0.951
20:53944953:A:T	V575E	0.950
20:53944947:A:T	I577N	0.944
20:53953438:T:A	K558N	0.944
20:53953438:T:G	K558N	0.944
20:53953439:T:A	K558I	0.944
20:53995899:T:A	K292I	0.942
20:53944962:G:A	T572I	0.941
20:53944988:C:A	K563N	0.940
20:53944988:C:G	K563N	0.940
20:53944964:T:A	Q571H	0.936
20:53944964:T:G	Q571H	0.936
20:53953445:A:G	F556S	0.934
20:53995893:A:G	L294P	0.934
20:53995902:A:G	F291S	0.934
20:53944974:G:T	A568D	0.932
20:54058715:C:G	G2R	0.931
20:53944968:A:T	V570E	0.928
20:53995055:A:T	V295D	0.927
20:54028521:G:C	F198L	0.926
20:54028521:G:T	F198L	0.926
20:54028523:A:G	F198L	0.926
20:53985297:A:G	F377S	0.924
20:53944975:C:G	A568P	0.923
20:53995907:A:C	S289R	0.921

dbSNP variants (sampled 300 via entrez): RS1000000525 (20:53950703 TG>T), RS1000009460 (20:54015878 T>C), RS1000027085 (20:53996479 A>G), RS1000031347 (20:53953127 G>A), RS1000050987 (20:53995546 C>T), RS1000051827 (20:54038236 T>G), RS1000058312 (20:53996241 G>T), RS1000078070 (20:53965928 G>A), RS1000084107 (20:53946653 T>C), RS1000148382 (20:54040851 T>C), RS1000156683 (20:54052609 C>T), RS1000190691 (20:53990729 G>C), RS1000270898 (20:53968257 C>A,T), RS1000287643 (20:53945465 C>T), RS1000294789 (20:54013122 TAAC>T)

Disease associations

OMIM: gene MIM:602968 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

33 associations (top):

Study	Trait	p-value
GCST002938_17	Copper levels	2.000000e-06
GCST003372_41	Glomerular filtration rate (creatinine)	9.000000e-15
GCST003790_31	Glomerular filtration rate	6.000000e-07
GCST004001_7	Bipolar disorder or attention deficit hyperactivity disorder	8.000000e-07
GCST004002_4	Bipolar disorder (age of onset <21) or attention deficit hyperactivity disorder	8.000000e-06
GCST004068_65	Venous thromboembolism adjusted for sickle cell variant rs77121243-T	2.000000e-06
GCST004292_15	Glomerular filtration rate (creatinine)	3.000000e-17
GCST004621_173	Red cell distribution width	3.000000e-11
GCST005982_15	Calcium levels	1.000000e-09
GCST006030_18	Chloride levels	4.000000e-08
GCST006075_24	Hair color	7.000000e-27
GCST006083_8	Prostate cancer (advanced)	2.000000e-07
GCST006085_103	Prostate cancer	6.000000e-18
GCST006089_8	Prostate cancer (early onset)	6.000000e-06
GCST006491_19	Circulating fibroblast growth factor 23 levels	3.000000e-24
GCST006988_163	Blond vs. brown/black hair color	1.000000e-30
GCST007324_124	Adventurousness	2.000000e-08
GCST007344_17	Estimated glomerular filtration rate	5.000000e-16
GCST007833_15	Urolithiasis	3.000000e-08
GCST007833_16	Urolithiasis	6.000000e-08
GCST007916_8	Hyperuricemia	2.000000e-16
GCST007916_9	Hyperuricemia	2.000000e-16
GCST007918_22	Serum uric acid levels	2.000000e-16
GCST007919_1	Creatinine levels	9.000000e-16
GCST009597_59	Multiple sclerosis	3.000000e-10
GCST90002390_675	Mean corpuscular hemoglobin	2.000000e-11
GCST90002392_114	Mean corpuscular volume	3.000000e-14
GCST90002395_602	Mean platelet volume	3.000000e-10
GCST90002396_64	Mean reticulocyte volume	2.000000e-09
GCST90002397_287	Mean spheric corpuscular volume	1.000000e-10

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0009188	Red cell distribution width
EFO:0004838	calcium measurement
EFO:0003924	hair color
EFO:0008579	risk-taking behaviour
EFO:0009104	hyperuricemia
EFO:0004761	uric acid measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume
EFO:0004305	erythrocyte count
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression	3
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	3
Calcitriol	increases expression, affects cotreatment	2
Estradiol	decreases expression, affects cotreatment, increases expression	2
Valproic Acid	decreases methylation, increases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
mivebresib	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	increases expression	1
pentanal	decreases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, decreases expression	1
incobotulinumtoxinA	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Acetaminophen	decreases expression	1
Cadmium	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	affects expression	1
Metribolone	increases expression	1
Cyclosporine	increases expression, increases methylation	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Raloxifene Hydrochloride	affects cotreatment, increases expression	1
Vitamin K 3	affects expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.