U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

BBLN bublin coiled coil protein [ Homo sapiens (human) ]

Gene ID: 79095, updated on 17-Jun-2024

Summary

Official Symbol
BBLNprovided by HGNC
Official Full Name
bublin coiled coil proteinprovided by HGNC
Primary source
HGNC:HGNC:17823
See related
Ensembl:ENSG00000171159 AllianceGenome:HGNC:17823
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
C9orf16; EST00098
Expression
Ubiquitous expression in adrenal (RPKM 41.7), brain (RPKM 23.9) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See BBLN in Genome Data Viewer
Location:
9q34.11
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128160265..128163924)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140367336..140371004)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130922544..130926203)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20326 Neighboring gene PTGES2 antisense RNA 1 (head to head) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130900289-130900788 Neighboring gene CRISPRi-validated cis-regulatory element chr9.2942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130908453-130908952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130916023-130916694 Neighboring gene MPRA-validated peak7335 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr9:130920069-130920264 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:130921445-130922398 and GRCh37_chr9:130922399-130923352 Neighboring gene lipocalin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130940513-130941204 Neighboring gene CDKN1A interacting zinc finger protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:130953834-130954001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130954889-130955404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130955405-130955919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20331 Neighboring gene Sharpr-MPRA regulatory region 9989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130966872-130967444 Neighboring gene dynamin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:130980103-130981059 and GRCh37_chr9:130981060-130982015 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:130992962-130993210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130995155-130995654 Neighboring gene microRNA 199b

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC4639, FLJ12823

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular adaptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in intermediate filament bundle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in cellular_component ND
No biological Data available
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with intermediate filament IMP
Inferred from Mutant Phenotype
more info
PubMed 
colocalizes_with kinetochore microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in subapical part of cell IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
bublin coiled-coil protein
Names
UPF0184 protein C9orf16

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_024112.4NP_077017.1  bublin coiled-coil protein

    See identical proteins and their annotated locations for NP_077017.1

    Status: VALIDATED

    Source sequence(s)
    BC001857, DB493059
    Consensus CDS
    CCDS6893.1
    UniProtKB/Swiss-Prot
    Q5SYV8, Q9BUW7, Q9Y3F7
    Related
    ENSP00000362085.1, ENST00000372994.2
    Conserved Domains (1) summary
    pfam03670
    Location:183
    UPF0184; Uncharacterized protein family (UPF0184)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    128160265..128163924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    140367336..140371004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)