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

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 histone H4K20 demethylase activity and metal ion binding activity. Predicted to be involved in chromatin remodeling. Predicted to be located in endoplasmic reticulum. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 3.0), ovary (RPKM 2.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (113761832..113812476, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (113773493..113824146, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (114304454..114355098, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis.

Submit: New GeneRIF Correction

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

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_12059-12060:1004549049:1 (e-PCR)
- UniSTS:267325

MARC_12059-12060:1108762903:1 (e-PCR)
- UniSTS:267325

RH117 (e-PCR)
- UniSTS:84397

SHGC-75352 (e-PCR)
- UniSTS:5577

G20635 (e-PCR)
- UniSTS:9935

A005Z42 (e-PCR)
- UniSTS:9936

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 remodeling	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

NM_018364.5 → NP_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

A8K937, Q5VWQ0, Q6AI21, Q8TC33, Q9HA80, Q9NUP6

UniProtKB/TrEMBL

A0A087WWP8

Related

ENSP00000261441.5, ENST00000261441.9

RNA

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