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SLC7A6OS solute carrier family 7 member 6 opposite strand [ Homo sapiens (human) ]

Gene ID: 84138, updated on 10-Dec-2024

Summary

Official Symbol
SLC7A6OSprovided by HGNC
Official Full Name
solute carrier family 7 member 6 opposite strandprovided by HGNC
Primary source
HGNC:HGNC:25807
See related
Ensembl:ENSG00000103061 MIM:619192; AllianceGenome:HGNC:25807
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
Iwr1; EPM12
Summary
Predicted to be involved in developmental process. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in cytoplasm and nucleus. Implicated in progressive myoclonus epilepsy. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in fat (RPKM 16.2), lymph node (RPKM 14.6) and 25 other tissues See more
Orthologs
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Genomic context

See SLC7A6OS in Genome Data Viewer
Location:
16q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (68298034..68310946, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (74093816..74106724, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (68331937..68344849, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7645 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:68298967-68300166 Neighboring gene solute carrier family 7 member 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11009 Neighboring gene Sharpr-MPRA regulatory region 10574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11010 Neighboring gene Sharpr-MPRA regulatory region 6227 Neighboring gene RNA, U6 small nuclear 1262, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11012 Neighboring gene Sharpr-MPRA regulatory region 7703 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:68343854-68344818 Neighboring gene small nucleolar RNA U13 Neighboring gene protein arginine methyltransferase 7 Neighboring gene RNA, U4 small nuclear 30, pseudogene

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

Associated conditions

Description Tests
Epilepsy, progressive myoclonic, 12
MedGen: C5543069 OMIM: 619191 GeneReviews: Not available
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EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ13291

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in developmental process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
probable RNA polymerase II nuclear localization protein SLC7A6OS
Names
ADAMS proteinase-related protein
protein SLC7A6OS
solute carrier family 7 member 6 opposite strand transcript

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_032178.3NP_115554.2  probable RNA polymerase II nuclear localization protein SLC7A6OS

    See identical proteins and their annotated locations for NP_115554.2

    Status: VALIDATED

    Source sequence(s)
    AC020978, AK023353, AY078070, BC013778, DB145613
    Consensus CDS
    CCDS10865.1
    UniProtKB/Swiss-Prot
    Q8TCZ3, Q96CW6, Q9H8R8
    Related
    ENSP00000263997.5, ENST00000263997.11
    Conserved Domains (1) summary
    pfam08574
    Location:194257
    DUF1762; Protein of unknown function (DUF1762)

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    68298034..68310946 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523372.4XP_011521674.1  probable RNA polymerase II nuclear localization protein SLC7A6OS isoform X1

    UniProtKB/TrEMBL
    A0A087X0P9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    74093816..74106724 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314139.1XP_054170114.1  probable RNA polymerase II nuclear localization protein SLC7A6OS isoform X1

    UniProtKB/TrEMBL
    A0A087X0P9