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

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, Oct 2024]
Expression: Ubiquitous expression in fat (RPKM 16.2), lymph node (RPKM 14.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Title: Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Results describe the characterization of a protease-related protein, ARP1, in Chang-liver cells.
Title: Molecular characterization and functional analysis of a protease-related protein in Chang-liver cells.

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

Associated conditions

Description	Tests
Epilepsy, progressive myoclonic, 12 MedGen: C5543069 OMIM: 619191 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-60827 (e-PCR)
- UniSTS:43813

RH70445 (e-PCR)
- UniSTS:9268

RH64998 (e-PCR)
- UniSTS:87612

D16S2540E (e-PCR)
- UniSTS:151631

SHGC-33727 (e-PCR)
- UniSTS:54478

SLC7A6_3922 (e-PCR)
- UniSTS:462550

G20443 (e-PCR)
- UniSTS:63227

A005R27 (e-PCR)
- UniSTS:63228

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

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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.