Aliases for ATP1A1-AS1 Gene

Subcategory (RNA class) for ATP1A1-AS1 Gene

lncRNA

Aliases for ATP1A1-AS1 Gene

External Ids for ATP1A1-AS1 Gene

Previous HGNC Symbols for ATP1A1-AS1 Gene

  • C1orf203
  • ATP1A1OS

Previous GeneCards Identifiers for ATP1A1-AS1 Gene

  • GC01M116934

Summaries for ATP1A1-AS1 Gene

GeneCards Summary for ATP1A1-AS1 Gene

ATP1A1-AS1 (ATP1A1 Antisense RNA 1) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with ATP1A1-AS1 include Charcot-Marie-Tooth Disease, Axonal, Type 2Dd and Hypomagnesemia, Seizures, And Mental Retardation 2.

Additional gene information for ATP1A1-AS1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP1A1-AS1 Gene

Genomics for ATP1A1-AS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP1A1-AS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J116420 Enhancer 0.9 ENCODE 250.7 +0.7 707 0.2 MNT HES1 MBD2 BHLHE40 ZNF513 ARNT ZNF395 FOXA2 VEZF1 NBN ATP1A1-AS1 HSALNG0006328 ATP1A1 CD58
GH01J116421 Enhancer 0.7 Ensembl 250.7 +0.3 301 0.4 ZNF395 VEZF1 SMAD4 FOSL1 EGR1 NR2F6 RXRB ZNF584 ZNF580 GMEB1 ATP1A1-AS1 HSALNG0006328 ATP1A1 CD58
GH01J116371 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.9 +44.6 44596 10.2 TBP SP1 MXD4 BCL11A CEBPA MNT IKZF1 SMAD5 ZFP64 ZNF217 ATP1A1 ATP1A1-AS1 CD58 TRIM45 NAP1L4P1 SLC22A15 lnc-CD58-1 HSALNG0006324
GH01J115641 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 31.2 +778.7 778700 2.8 CHD2 TBP ZBTB10 MNT IKZF1 BRCA1 CTCF BHLHE40 ELF1 NONO VANGL1 ATP1A1-AS1 SIKE1 ENSG00000207502 CD58 HE856257 CASQ2
GH01J116470 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29.6 -53.6 -53599 8.6 ZSCAN16 TBP MXD4 FEZF1 MNT IKZF1 ZFP64 BHLHE40 ZIC2 HOMEZ LINC01762 ATP1A1-AS1 ATP1A1 HSALNG0006333 ENSG00000230381 CD58
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP1A1-AS1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for ATP1A1-AS1 Gene

Latest Assembly
chr1:116,378,437-116,421,301
(GRCh38/hg38)
Size:
42,865 bases
Orientation:
Minus strand

Previous Assembly
chr1:116,935,487-116,961,244
(GRCh37/hg19 by Entrez Gene)
Size:
25,758 bases
Orientation:
Minus strand

chr1:116,934,869-116,961,244
(GRCh37/hg19 by Ensembl)
Size:
26,376 bases
Orientation:
Minus strand

Genomic View for ATP1A1-AS1 Gene

Genes around ATP1A1-AS1 on UCSC Golden Path with GeneCards custom track
ATP1A1-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
ATP1A1-AS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP1A1-AS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1A1-AS1 Gene

Proteins for ATP1A1-AS1 Gene

  • Protein details for ATP1A1-AS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TC04-ATAS1_HUMAN
    Recommended name:
    Putative uncharacterized protein ATP1A1-AS1
    Protein Accession:
    Q5TC04

    Protein attributes for ATP1A1-AS1 Gene

    Size:
    95 amino acids
    Molecular mass:
    10240 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ATP1A1-AS1 Gene

Post-translational modifications for ATP1A1-AS1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ATP1A1-AS1 Gene

Domains & Families for ATP1A1-AS1 Gene

Gene Families for ATP1A1-AS1 Gene

Protein Domains for ATP1A1-AS1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for ATP1A1-AS1 Gene

GenScript: Design optimal peptide antigens:
  • ATP1A1 opposite strand protein (ATPOS_HUMAN)
genes like me logo Genes that share domains with ATP1A1-AS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ATP1A1-AS1 Gene

Function for ATP1A1-AS1 Gene

Phenotypes From GWAS Catalog for ATP1A1-AS1 Gene

CRISPR products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ATP1A1-AS1 Gene

Localization for ATP1A1-AS1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ATP1A1-AS1 Gene

Pathways & Interactions for ATP1A1-AS1 Gene

PathCards logo

SuperPathways for ATP1A1-AS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATP1A1-AS1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for ATP1A1-AS1 Gene

Drugs & Compounds for ATP1A1-AS1 Gene

No Compound Related Data Available

Transcripts for ATP1A1-AS1 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for ATP1A1-AS1 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS000075EE0D_9606 lncRNA 1828 4

RefSeq: NR_024125,

LncBook: HSALNT0013238,

LNCipedia: ATP1A1-AS1:3,

NONCODE: NONHSAT005431.2,

URS0000759F49_9606 lncRNA 1554 4

RefSeq: NR_024124,

LncBook: HSALNT0013239,

LNCipedia: ATP1A1-AS1:5,

NONCODE: NONHSAT005430.2,

URS000075E7C5_9606 lncRNA 671 4

RefSeq: NR_027645,

LncBook: HSALNT0013234,

LNCipedia: ATP1A1-AS1:4,

NONCODE: NONHSAT005428.2,

URS0000759969_9606 lncRNA 565 4

RefSeq: NR_027646,

LncBook: HSALNT0013233,

LNCipedia: ATP1A1-AS1:1,

NONCODE: NONHSAT005424.2,

URS00008B61B8_9606 lncRNA 1014 3

Ensembl: ENST00000369492 (view in UCSC) ,

LncBook: HSALNT0013243,

LNCipedia: ATP1A1-AS1:6,

ATP1A1-AS1 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for ATP1A1-AS1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A1-AS1 Gene

No ASD Table

Relevant External Links for ATP1A1-AS1 Gene

GeneLoc Exon Structure for
ATP1A1-AS1

Expression for ATP1A1-AS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP1A1-AS1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATP1A1-AS1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP1A1-AS1

genes like me logo Genes that share expression patterns with ATP1A1-AS1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP1A1-AS1 Gene

Orthologs for ATP1A1-AS1 Gene

Evolution for ATP1A1-AS1 Gene

ENSEMBL:
Gene Tree for ATP1A1-AS1 (if available)
TreeFam:
Gene Tree for ATP1A1-AS1 (if available)

No data available for Orthologs for ATP1A1-AS1 Gene

Paralogs for ATP1A1-AS1 Gene

No data available for Paralogs for ATP1A1-AS1 Gene

Variants for ATP1A1-AS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP1A1-AS1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
872433 Likely Benign: not provided 116,398,991(-) C/T
NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=)
SYNONYMOUS
931627 Uncertain Significance: Hypomagnesemia, seizures, and mental retardation 2 116,399,513(-) C/T
NM_000701.8(ATP1A1):c.2542C>T (p.Arg848Trp)
MISSENSE
992402 Uncertain Significance: Hypomagnesemia, seizures, and mental retardation 2 116,396,627(-) C/G
NM_000701.8(ATP1A1):c.1866C>G (p.Ile622Met)
MISSENSE
995868 Likely Pathogenic: Charcot-marie-tooth disease, axonal, type 2DD 116,401,219(-) CTGTAAGACCAG/C
NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)
FRAMESHIFT
rs149820510 Likely Benign: not provided 116,399,512(-) G/A
NM_000701.8(ATP1A1):c.2541G>A (p.Glu847=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP1A1-AS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATP1A1-AS1 Gene

Variant ID Type Subtype PubMed ID
nsv2533 CNV insertion 18451855

Additional Variant Information for ATP1A1-AS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1A1-AS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ATP1A1-AS1 Gene

Disorders for ATP1A1-AS1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP1A1-AS1 Gene - From: CVR and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP1A1-AS1

genes like me logo Genes that share disorders with ATP1A1-AS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP1A1-AS1 Gene

Publications for ATP1A1-AS1 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  2. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. (PMID: 29499166) Lassuthova P … Zuchner S (American journal of human genetics 2018) 74
  3. Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. (PMID: 30388404) Schlingmann KP … Konrad M (American journal of human genetics 2018) 74
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

Products for ATP1A1-AS1 Gene

Sources for ATP1A1-AS1 Gene