BCAS3 - BCAS3 microtubule associated cell migration factor Gene

Also Known as MAAB; GAOB1; PHAF2; HEMARS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54828

About BCAS3

Cytogenetic location: 17q23.2 Genomic coordinates (GRCh38): 17:60,677,851-61,392,831 (from NCBI)

This gene has 34 transcripts (splice variants), 212 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 4.9), brain (RPKM 4.0) and 25 other tissues.

Summary

Enables several functions, including acetyltransferase activator activity; beta-tubulin binding activity; and Histone Acetyltransferase binding activity. Involved in cellular response to estrogen stimulus; positive regulation of catalytic activity; and positive regulation of transcription by RNA polymerase II. Located in nucleus; phagophore assembly site; and transcriptionally active chromatin. Biomarker of breast Cancer. [provided by Alliance of Genome Resources, Apr 2022]

BCAS3 Products (8)

mRNA Protein Name
NM_001099432.3 NP_001092902.1 BCAS3 microtubule associated cell migration factor isoform 1
NM_001320470.3 NP_001307399.1 BCAS3 microtubule associated cell migration factor isoform 3
NM_001330413.2 NP_001317342.1 BCAS3 microtubule associated cell migration factor isoform 4
NM_001330414.2 NP_001317343.1 BCAS3 microtubule associated cell migration factor isoform 5
NM_001353144.2 NP_001340073.1 BCAS3 microtubule associated cell migration factor isoform 6
NM_001353145.2 NP_001340074.1 BCAS3 microtubule associated cell migration factor isoform 7
NM_001353146.2 NP_001340075.1 BCAS3 microtubule associated cell migration factor isoform 8
NM_017679.5 NP_060149.3 BCAS3 microtubule associated cell migration factor isoform 2
Molecular Function GO Annotation Evidence References Source
enables acetyltransferase activator activity IDA
IDA: Inferred from direct assay
17505058 GOA
enables beta-tubulin binding IDA
IDA: Inferred from direct assay
22300583 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
17505058 GOA
enables histone acetyltransferase binding IPI
IPI: Inferred from physical interaction
17505058 GOA
enables histone binding IDA
IDA: Inferred from direct assay
17505058 GOA
enables nuclear receptor binding IPI
IPI: Inferred from physical interaction
17505058 GOA
enables phosphatidylinositol binding IDA
IDA: Inferred from direct assay
33499712 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17505058 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to estrogen stimulus IDA
IDA: Inferred from direct assay
17505058 GOA
involved in positive regulation of catalytic activity IDA
IDA: Inferred from direct assay
17505058 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
17505058 GOA
involved in response to estrogen IDA
IDA: Inferred from direct assay
16617102 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
16617102 GOA
located in euchromatin IDA
IDA: Inferred from direct assay
17505058 GOA
located in nucleus IDA
IDA: Inferred from direct assay
16617102 GOA
located in phagophore assembly site IDA
IDA: Inferred from direct assay
33499712 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCAS3 Protein Structure

WD40

WD40: WD domain, G-beta repeat (344 - 368)

BCAS3

BCAS3: Breast carcinoma amplified sequence 3 (524 - 763)

  • 0
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  • 400
  • 600
  • 800
  • 928 a.a.
Protein Preferred Names Protein Names

BCAS3 microtubule associated cell migration factor

  • BCAS4/BCAS3 fusion

BCAS3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BCAS3 Q9H6U6 CTBP1 Homo sapiens Q13363-2 25416956
Intra
BCAS3 Q9H6U6 CTBP2 Homo sapiens P56545-3 25416956
Intra
BCAS3 Q9H6U6 CTBP2 Homo sapiens P56545-3 25416956
Intra
BCAS3 Q9H6U6 VIM Homo sapiens P08670 22300583
Intra
BCAS3 Q9H6U6 CDC23 Homo sapiens Q9UJX2 25416956
Intra
BCAS3 Q9H6U6 CDC23 Homo sapiens Q9UJX2 25416956
Intra
BCAS3 Q9H6U6 PLEKHF2 Homo sapiens Q9H8W4 32296183
Intra
BCAS3 Q9H6U6 PLEKHF2 Homo sapiens Q9H8W4 32296183
Intra
BCAS3 Q9H6U6 PLEKHF2 Homo sapiens Q9H8W4 32296183
Intra
BCAS3 Q9H6U6 PHAF1 Homo sapiens Q9BSU1 31515488
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hengel-Maroofian-Schols Syndrome
  • HEMARS

  • Neurodevelopmental Disorder With Spasticity, Facial Dysmorphism, And Brain Abnormalities

Non-Specific Syndromic Intellectual Disability
  • Complex Neurodevelopmental Disorder

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus BCAS3 MGD MGI:2385848
Bos taurus BCAS3 VGNC VGNC:26438
Macaca mulatta BCAS3 VGNC VGNC:70073
Felis catus BCAS3 VGNC VGNC:60080
Rattus norvegicus BCAS3 RGD RGD:1560788
Canis familiaris BCAS3 VGNC VGNC:38400
Others BCAS3 NCBI