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RSBN1L round spermatid basic protein 1 like [ Homo sapiens (human) ]

Gene ID: 222194, updated on 27-Nov-2024

Summary

Official Symbol
RSBN1Lprovided by HGNC
Official Full Name
round spermatid basic protein 1 likeprovided by HGNC
Primary source
HGNC:HGNC:24765
See related
Ensembl:ENSG00000187257 AllianceGenome:HGNC:24765
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
Summary
Predicted to enable dioxygenase activity and metal ion binding activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 10.5), thyroid (RPKM 9.2) and 25 other tissues See more
Orthologs
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Genomic context

See RSBN1L in Genome Data Viewer
Location:
7q11.23
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (77696459..77783022)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (78948368..79034967)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (77325776..77412339)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18326 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:77169285-77169866 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:77185513-77186127 Neighboring gene protein tyrosine phosphatase non-receptor type 12 Neighboring gene uncharacterized LOC105375363 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:77305655-77305829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:77321385-77321884 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:77324871-77325766 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:77325767-77326662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18329 Neighboring gene Alu-mediated CDKN1A/p21 transcriptional regulator Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:77393580-77394080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26209 Neighboring gene transmembrane protein 60 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18331 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:77464234-77464734 Neighboring gene putative homeodomain transcription factor 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:77501601-77502172 Neighboring gene uncharacterized LOC124901682

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

Phenotypes

EBI GWAS Catalog

Description
New loci associated with kidney function and chronic kidney disease.
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 RSBN1L 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

Clone Names

  • FLJ42526, FLJ45813, MGC71764

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dioxygenase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding 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

Preferred Names
lysine-specific demethylase RSBN1L
Names
round spermatid basic protein 1-like protein

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_198467.3NP_940869.2  lysine-specific demethylase RSBN1L

    See identical proteins and their annotated locations for NP_940869.2

    Status: VALIDATED

    Source sequence(s)
    AC004955, AK127713, BC059402, DA097202
    Consensus CDS
    CCDS43607.1
    UniProtKB/Swiss-Prot
    C9K0P1, Q6PCB5, Q6ZS58, Q6ZVI9, Q86X48
    Related
    ENSP00000334040.7, ENST00000334955.13

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
    77696459..77783022
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    78948368..79034967
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)