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

Gene ID: 221477, updated on 7-Jun-2020

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
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
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

Genomic context

See C6orf89 in Genome Data Viewer
Location:
6p21.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (36834886..36928964)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36853640..36896740)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RAB44, member RAS oncogene family Neighboring gene G protein-coupled receptor 166 pseudogene Neighboring gene copine 5 Neighboring gene peptidylprolyl isomerase like 1 Neighboring gene peptidase inhibitor 16 Neighboring gene mitochondrial carrier 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25357, MGC126060, MGC126061, MGC126062

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of histone deacetylase activity IDA
Inferred from Direct Assay
more info
PubMed 
wound healing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
bombesin receptor-activated protein C6orf89
Names
amfion

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001286635.2NP_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
    Q6UWU4
    UniProtKB/TrEMBL
    A0A024RCY0
    Related
    ENSP00000475947.1, ENST00000480824.6
  2. NM_001286636.2NP_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/Swiss-Prot
    Q6UWU4
    UniProtKB/TrEMBL
    Q96LN2
    Related
    ENSP00000352316.2, ENST00000359359.6
  3. NM_001286637.2NP_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/Swiss-Prot
    Q6UWU4
  4. NM_152734.4NP_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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    36834886..36928964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010434.2XP_016865923.1  bombesin receptor-activated protein C6orf89 isoform X1

    UniProtKB/Swiss-Prot
    Q6UWU4
    UniProtKB/TrEMBL
    A0A024RCY0
  2. XM_017010433.2XP_016865922.1  bombesin receptor-activated protein C6orf89 isoform X1

    UniProtKB/Swiss-Prot
    Q6UWU4
    UniProtKB/TrEMBL
    A0A024RCY0
  3. XM_017010432.2XP_016865921.1  bombesin receptor-activated protein C6orf89 isoform X1

    UniProtKB/Swiss-Prot
    Q6UWU4
    UniProtKB/TrEMBL
    A0A024RCY0
  4. XM_011514377.3XP_011512679.1  bombesin receptor-activated protein C6orf89 isoform X1

    See identical proteins and their annotated locations for XP_011512679.1

    UniProtKB/Swiss-Prot
    Q6UWU4
    UniProtKB/TrEMBL
    A0A024RCY0
  5. XM_024446354.1XP_024302122.1  bombesin receptor-activated protein C6orf89 isoform X1

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