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RBAK-RBAKDN RBAK-RBAKDN readthrough [ Homo sapiens (human) ]

Gene ID: 100533952, updated on 2-Nov-2024

Summary

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Official Symbol
RBAK-RBAKDNprovided by HGNC
Official Full Name
RBAK-RBAKDN readthroughprovided by HGNC
Primary source
HGNC:HGNC:42971
See related
Ensembl:ENSG00000272968 AllianceGenome:HGNC:42971
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
RBAK; hRBaK; ZNF769; RBAK-LOC389458
Summary
This locus represents naturally occurring read-through transcription between the neighboring RBAK (RB-associated KRAB zinc finger) and LOC389458 (hypothetical LOC389458) genes on chromosome 7. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Mar 2011]
Expression
Biased expression in testis (RPKM 37.8) and appendix (RPKM 1.0) See more
Orthologs
all
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Genomic context

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See RBAK-RBAKDN in Genome Data Viewer
Location:
7p22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (5045860..5073221)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5163659..5191015)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5085491..5112852)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5013544-5014142 Neighboring gene ring finger protein 216 pseudogene 1 Neighboring gene uncharacterized LOC105375134 Neighboring gene speedy/RINGO cell cycle regulator family member E19, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25569 Neighboring gene RB associated KRAB zinc finger Neighboring gene RBAK downstream neighbor Neighboring gene MPRA-validated peak6353 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:5157553-5157711 Neighboring gene olfactory receptor family 10 subfamily AH member 1 pseudogene Neighboring gene zinc finger protein 890, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25570

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  2. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
  3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

GeneRIFs: Gene References Into Functions

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

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

Homology

General protein information

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Preferred Names
RBAK-RBAKDN readthrough
Names
RB-associated KRAB repressor
RB-associated KRAB zinc finger protein
RBAK-LOC389458 readthrough
Zinc finger protein 769

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)

  1. NM_001204513.3 → NP_001191442.1  RBAK-RBAKDN readthrough

    Status: VALIDATED

    Source sequence(s)
    AC092032, BM929719
    UniProtKB/TrEMBL
    A0A0A6YYG8
    Related
    ENSP00000380112.2, ENST00000396904.2
    Conserved Domains (2) summary
    smart00349
    Location:8 → 68
    KRAB; krueppel associated box
    pfam01352
    Location:8 → 47
    KRAB; KRAB box

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    5045860..5073221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    5163659..5191015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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