BCAS3 BCAS3 microtubule associated cell migration factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCAS3provided by HGNC
Official Full Name: BCAS3 microtubule associated cell migration factorprovided by HGNC
Primary source: HGNC:HGNC:14347
See related: Ensembl:ENSG00000141376 MIM:607470; AllianceGenome:HGNC:14347
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MAAB; GAOB1; PHAF2; HEMARS
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]
Expression: Ubiquitous expression in testis (RPKM 4.9), brain (RPKM 4.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q23.2

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (60677851..61392831)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (61546666..62261697)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (58755212..59470192)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BCAS3 accelerates glioblastoma tumorigenesis by restraining the P53/GADD45alpha signaling pathway.
Title: BCAS3 accelerates glioblastoma tumorigenesis by restraining the P53/GADD45α signaling pathway.
Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy.
Title: Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy.
Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure.
Title: Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure.
BCAS3 exhibits oncogenic properties by promoting CRL4A-mediated ubiquitination of p53 in breast cancer.
Title: BCAS3 exhibits oncogenic properties by promoting CRL4A-mediated ubiquitination of p53 in breast cancer.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Title: Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
This study identifies the novel and essential role of Rudhira in cytoskeletal cross-talk and assigns function to the conserved BCAS3 domain.
Title: Rudhira/BCAS3 couples microtubules and intermediate filaments to promote cell migration for angiogenic remodeling.
BCAS3 single nucleotide polymorphism is associated with gout.
Title: Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.
Real-time PCR validated that up-regulation of sulphiredoxin 1 homolog (SRXN1), hemeoxygenase 1 (HMOX1), and breast carcinoma amplified sequence 3 (BCAS3) were consistently modulated.
Title: Maesopsin 4-O-beta-D-glucoside, a natural compound isolated from the leaves of Artocarpus tonkinensis, inhibits proliferation and up-regulates HMOX1, SRXN1 and BCAS3 in acute myeloid leukemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: New loci associated with kidney function and chronic kidney disease.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hengel-Maroofian-Schols syndrome MedGen: C5562032 OMIM: 619641 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study of optic disc parameters. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide scan for breast cancer risk haplotypes among African American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46138 (e-PCR)
- UniSTS:25097

GDB:213539 (e-PCR)
- UniSTS:156180

STS-N93418 (e-PCR)
- UniSTS:64061

RH79698 (e-PCR)
- UniSTS:83805

D17S603 (e-PCR)
- UniSTS:14951

RH122979 (e-PCR)
- UniSTS:135275

RH77934 (e-PCR)
- UniSTS:7020

AFMa348zg1 (e-PCR)
- UniSTS:56693

D17S603 (e-PCR)
- UniSTS:26231

RH11846 (e-PCR)
- UniSTS:75134

RH102567 (e-PCR)
- UniSTS:96901

WI-18428 (e-PCR)
- UniSTS:62349

RH45637 (e-PCR)
- UniSTS:57240

D17S1838 (e-PCR), detects polymorphism
- UniSTS:41116

RH99142 (e-PCR)
- UniSTS:86945

SHGC-36265 (e-PCR)
- UniSTS:41910

D17S688 (e-PCR)
- UniSTS:147131

A008N15 (e-PCR)
- UniSTS:45247

RH78352 (e-PCR)
- UniSTS:46279

FCA082 (e-PCR), detects polymorphism
- UniSTS:266703

STS-T62860 (e-PCR)
- UniSTS:51421

PMC311067P2 (e-PCR)
- UniSTS:272873

PMC311067P3 (e-PCR)
- UniSTS:272874

PMC311067P5 (e-PCR)
- UniSTS:272876

PMC311067P6 (e-PCR)
- UniSTS:272877

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetyltransferase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone acetyltransferase binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to estrogen stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of catalytic activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endothelial cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to estrogen	IDA Inferred from Direct Assay more info	PubMed
involved_in response to starvation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell leading edge	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic microtubule	ISS Inferred from Sequence or Structural Similarity more info
part_of euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in phagophore assembly site	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BCAS3 microtubule associated cell migration factor

Names: BCAS4/BCAS3 fusion; Rudhira; breast carcinoma amplified sequence 4/3 fusion protein; breast carcinoma-amplified sequence 3; metastasis associated antigen of breast cancer; phagophore assembly factor 2; protein Maab1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001099432.3 → NP_001092902.1 BCAS3 microtubule associated cell migration factor isoform 1

See identical proteins and their annotated locations for NP_001092902.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) has multiple differences in the coding region, compared to variant 3. Isoforms 1 and 3 are the same length but have distinct C-termini.

Source sequence(s)

AC005746, AC005884, AC015876, AC079005, AC110602

Consensus CDS

CCDS45749.1

UniProtKB/Swiss-Prot

Q17RM0, Q6KF21, Q8IXI6, Q8NDR8, Q8TDL9, Q8TDM1, Q8WY55, Q9BVF0, Q9H6U6, Q9H957, Q9H9Y9, Q9NXP4

UniProtKB/TrEMBL

B2RBN7, B7ZKU7

Related

ENSP00000375067.4, ENST00000390652.9

Conserved Domains (2) summary

pfam12490
Location:581 → 753

BCAS3; Breast carcinoma amplified sequence 3

cl02567
Location:344 → 449

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001320470.3 → NP_001307399.1 BCAS3 microtubule associated cell migration factor isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (3). Isoforms 1 and 3 are the same length but have distinct C-termini.

Source sequence(s)

AC005746, AC005884, AC015876, AC079005, AC110602

Consensus CDS

CCDS82177.1

UniProtKB/TrEMBL

B2RBN7, B7ZKU7

Related

ENSP00000466078.1, ENST00000589222.5

Conserved Domains (2) summary

pfam12490
Location:521 → 738

BCAS3; Breast carcinoma amplified sequence 3

cl02567
Location:344 → 449

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001330413.2 → NP_001317342.1 BCAS3 microtubule associated cell migration factor isoform 4

Status: VALIDATED

Source sequence(s)

AC005746, AC005884, AC015876, AC079005, AC110602

Consensus CDS

CCDS82176.1

UniProtKB/TrEMBL

B2RBN7, B7ZKU7

Related

ENSP00000468592.1, ENST00000588462.5

Conserved Domains (2) summary

pfam12490
Location:581 → 753

BCAS3; Breast carcinoma amplified sequence 3

cl02567
Location:344 → 449

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001330414.2 → NP_001317343.1 BCAS3 microtubule associated cell migration factor isoform 5

Status: VALIDATED

Source sequence(s)

AC005746, AC005884, AC015876, AC079005, AC110602

Consensus CDS

CCDS82178.1

UniProtKB/TrEMBL

B2RBN7, B7ZKU7

Related

ENSP00000386173.2, ENST00000408905.7
NM_001353144.2 → NP_001340073.1 BCAS3 microtubule associated cell migration factor isoform 6

Status: VALIDATED

Source sequence(s)

AC005746, AC005884, AC015876, AC079005, AC110602

UniProtKB/TrEMBL

B2RBN7, B7ZKU7

Conserved Domains (1) summary

pfam12490
Location:611 → 783

BCAS3; Breast carcinoma amplified sequence 3
NM_001353145.2 → NP_001340074.1 BCAS3 microtubule associated cell migration factor isoform 7

Status: VALIDATED

Source sequence(s)

AC005746, AC005884, AC015876, AC079005, AC110602

UniProtKB/TrEMBL

B2RBN7, B7ZKU7

Conserved Domains (1) summary

pfam12490
Location:551 → 768

BCAS3; Breast carcinoma amplified sequence 3
NM_001353146.2 → NP_001340075.1 BCAS3 microtubule associated cell migration factor isoform 8

Status: VALIDATED

Source sequence(s)

AC005746, AC005884, AC015876, AC079005, AC110602

UniProtKB/TrEMBL

B2RBN7, B7ZKU7

Conserved Domains (1) summary

pfam12490
Location:581 → 753

BCAS3; Breast carcinoma amplified sequence 3
NM_017679.5 → NP_060149.3 BCAS3 microtubule associated cell migration factor isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks alternate in-frame exons in the 3' coding region, compared to variant 3, resulting in a shorter protein (isoform 2), compared to isoform 3.

Source sequence(s)

AC005746, AC005884, AC015876, AC079005, AC110602

Consensus CDS

CCDS11626.1

UniProtKB/TrEMBL

B2RBN7, B7ZKU7

Related

ENSP00000385323.2, ENST00000407086.8

Conserved Domains (2) summary

pfam12490
Location:521 → 738

BCAS3; Breast carcinoma amplified sequence 3

cl02567
Location:344 → 449

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...