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RSBN1 round spermatid basic protein 1 [ Homo sapiens (human) ]

Gene ID: 54665, updated on 22-Sep-2022

Summary

Official Symbol
RSBN1provided by HGNC
Official Full Name
round spermatid basic protein 1provided by HGNC
Primary source
HGNC:HGNC:25642
See related
Ensembl:ENSG00000081019 MIM:615858; AllianceGenome:HGNC:25642
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
KDM9; ROSBIN
Summary
Predicted to enable dioxygenase activity and metal ion binding activity. Predicted to be involved in chromatin organization. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 3.0), ovary (RPKM 2.9) and 25 other tissues See more
Orthologs
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Genomic context

See RSBN1 in Genome Data Viewer
Location:
1p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (113761832..113812476, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (113773493..113824146, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (114304454..114355098, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 14 Neighboring gene putative homeodomain transcription factor 1 Neighboring gene Sharpr-MPRA regulatory region 5734 Neighboring gene Sharpr-MPRA regulatory region 4295 Neighboring gene AP4B1 antisense RNA 1 Neighboring gene protein tyrosine phosphatase non-receptor type 22 Neighboring gene BCL2 like 15

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

EBI GWAS Catalog

Description
Novel associations for hypothyroidism include known autoimmune risk loci.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag HIV-1 Gag interacts with RSBN1 as demonstrated by proximity dependent biotinylation proteomics PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781E21150

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone H4K20 demethylase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in histone modification IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
lysine-specific demethylase 9

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_018364.5NP_060834.2  lysine-specific demethylase 9

    See identical proteins and their annotated locations for NP_060834.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the protein-coding transcript.
    Source sequence(s)
    AL137856, AL365321
    Consensus CDS
    CCDS862.1
    UniProtKB/Swiss-Prot
    Q5VWQ0, Q9NUP6
    Related
    ENSP00000261441.5, ENST00000261441.9

RNA

  1. NR_130896.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon compared to isoform 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK292552, AL365321, BC026155, N66761

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    113761832..113812476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001518.3XP_016857007.1  lysine-specific demethylase 9 isoform X1

    UniProtKB/Swiss-Prot
    Q5VWQ0
    Related
    ENSP00000433256.2, ENST00000476412.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    113773493..113824146 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)