C6orf89 chromosome 6 open reading frame 89 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C6orf89provided by HGNC
Official Full Name: chromosome 6 open reading frame 89provided by HGNC
Primary source: HGNC:HGNC:21114
See related: Ensembl:ENSG00000198663 MIM:616642; AllianceGenome:HGNC:21114
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: BRAP; PS1TP5TP1
Summary: Involved in several processes, including epithelial cell proliferation; positive regulation of histone deacetylase activity; and wound healing. Located in several cellular components, including Golgi membrane; midbody; and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Note: BRAP (Gene ID: 8315) and C6orf89 (Gene ID: 221477) share the BRAP symbol/alias in common. BRAP is a widely used alternative name for chromosome 6 open reading frame 89 (C6orf89), which can be confused with the official symbol for BRCA1-associated protein (BRAP). [05 Jul 2018]
Expression: Ubiquitous expression in thyroid (RPKM 22.1), brain (RPKM 16.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (36871844..36928964)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (36692455..36749587)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (36839620..36896740)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

results suggest BRAP plays an important role in airway inflammation and its overexpression may regulate NE-induced MUC5AC hypersecretion in HBE16 cells via the EGFR/ERK/NF-kappaB signaling pathway
Title: Bombesin receptor-activated protein regulates neutrophil elastase-induced mucin5AC hypersecretion in human bronchial epithelial cells.
Data show that BRAP locates in the membrane and cytoplasm, suggesting that this protein is a cytoplasm protein, which promotes cell cycle and wound repair of HBECs.
Title: Cloning of a novel protein interacting with BRS-3 and its effects in wound repair of bronchial epithelial cells.
Data indicate that bombesin receptor-activated protein (BRAP) might increase histone deacetylases 1/2 (HDAC) activity that leads to NF-kappa B (NF-kappaB) activation via its putative C-terminal domain.
Title: Bombesin Receptor-Activated Protein (BRAP) Modulates NF-κB Activation in Bronchial Epithelial Cells by Enhancing HDAC Activity.
C60rf89 is a gene that encodes three distinct proteins with the capacity to enhance the activity of histone deacetylases (HDACs) in the nucleolus, the Golgi and the midbody
Title: C6orf89 encodes three distinct HDAC enhancers that function in the nucleolus, the golgi and the midbody.
C6orf89 encodes one soluble and two type II membrane proteins that function as histone deacetylase enhancers. The 34sp is selectively targeted to the nucleolus and is retained in nucleolar organizer regions in mitotic cells. The 34sp is integrated into the ribosomal gene transcription machinery and is relocalized to the nucleolus upon the arrest of rDNA transcription, protein synthesis, and PI3K/mTORC signalling.
Title: C6orf89 encodes three distinct HDAC enhancers that function in the nucleolus, the golgi and the midbody.
Overexpression of BRAP may play a role during the antigen presenting process of bronchial epithelium by inhibiting the antigen uptake ability of bronchial epithelial cells.
Title: Role of bombesin receptor activated protein in the antigen presentation by human bronchial epithelial cells.

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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

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. 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

RH94301 (e-PCR)
- UniSTS:87809

SHGC-33920 (e-PCR)
- UniSTS:74527

NoName (e-PCR)
- UniSTS:490020

RH79658 (e-PCR)
- UniSTS:91193

D6S1286 (e-PCR)
- UniSTS:81733

WI-14896 (e-PCR)
- UniSTS:15694

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

G63337 (e-PCR)
- UniSTS:140450

G69466 (e-PCR)
- UniSTS:229540

RH35893 (e-PCR)
- UniSTS:32430

STS-R62412 (e-PCR)
- UniSTS:77765

RH46642 (e-PCR)
- UniSTS:68060

Clone Names

FLJ25357, MGC126060, MGC126061, MGC126062

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in wound healing	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: bombesin receptor-activated protein C6orf89

Names: amfion

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_001286635.2 → NP_001273564.1 bombesin receptor-activated protein C6orf89 isoform b

See identical proteins and their annotated locations for NP_001273564.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an additional exon in the 5' region, resulting in differences in the 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AJ420511, AL122034, BC095423

Consensus CDS

CCDS69100.1

UniProtKB/Swiss-Prot

B4DTT1, B7Z9L9, F4NAR0, F4NAR1, Q5TDC5, Q6UWU4, Q6ZMG5, Q7Z356, Q8IZ35

Related

ENSP00000475947.1, ENST00000480824.7
NM_001286636.2 → NP_001273565.1 bombesin receptor-activated protein C6orf89 isoform c

See identical proteins and their annotated locations for NP_001273565.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains alternate 5' exon structure, resulting in differences in the 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.

Source sequence(s)

AJ420511, AK058086, AL122034

Consensus CDS

CCDS75444.1

UniProtKB/TrEMBL

Q96LN2

Related

ENSP00000352316.2, ENST00000359359.6
NM_001286637.2 → NP_001273566.1 bombesin receptor-activated protein C6orf89 isoform c

See identical proteins and their annotated locations for NP_001273566.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) includes an additional exon and uses an alternate splice site in the 5' region, resulting in differences in the 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 4 encode isoform c.

Source sequence(s)

AJ420511, AK315984, AL122034

Consensus CDS

CCDS75444.1

UniProtKB/TrEMBL

Q96LN2
NM_152734.4 → NP_689947.2 bombesin receptor-activated protein C6orf89 isoform a

See identical proteins and their annotated locations for NP_689947.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AL122034, BC105947

Consensus CDS

CCDS4827.1

UniProtKB/Swiss-Prot

Q6UWU4

Related

ENSP00000347322.3, ENST00000355190.7