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TOR4A torsin family 4 member A [ Homo sapiens (human) ]

Gene ID: 54863, updated on 18-Oct-2022

Summary

Official Symbol
TOR4Aprovided by HGNC
Official Full Name
torsin family 4 member Aprovided by HGNC
Primary source
HGNC:HGNC:25981
See related
Ensembl:ENSG00000198113 AllianceGenome:HGNC:25981
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
C9orf167
Summary
Predicted to enable ATP binding activity. Predicted to be located in extracellular region and platelet alpha granule lumen. Predicted to be active in endoplasmic reticulum lumen and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in colon (RPKM 8.8), stomach (RPKM 6.8) and 22 other tissues See more
Orthologs
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Genomic context

See TOR4A in Genome Data Viewer
Location:
9q34.3
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137277726..137282641)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149515771..149520686)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140172178..140177093)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 166 member A Neighboring gene STPG3 antisense RNA 1 Neighboring gene sperm-tail PG-rich repeat containing 3 Neighboring gene negative elongation factor complex member B Neighboring gene 9q34.3 TOR4A distal recombination region Neighboring gene NOTCH regulated ankyrin repeat protein

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
torsin-4A
Names
torsin family protein C9orf167

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_017723.3NP_060193.2  torsin-4A

    See identical proteins and their annotated locations for NP_060193.2

    Status: VALIDATED

    Source sequence(s)
    AK000252, AK000392, BX255925
    Consensus CDS
    CCDS7041.1
    UniProtKB/Swiss-Prot
    A2BFA4, Q9NXH8
    Related
    ENSP00000350102.2, ENST00000357503.3
    Conserved Domains (2) summary
    smart00382
    Location:186290
    AAA; ATPases associated with a variety of cellular activities
    cl21455
    Location:149253
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    137277726..137282641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149515771..149520686
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)