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Tor1aip1 torsin 1A interacting protein 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 246314, updated on 17-Aug-2024

Summary

Official Symbol
Tor1aip1provided by RGD
Official Full Name
torsin 1A interacting protein 1provided by RGD
Primary source
RGD:628851
See related
EnsemblRapid:ENSRNOG00000003946 AllianceGenome:RGD:628851
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
Lap1b; Lap1c
Summary
Enables lamin binding activity. Predicted to be involved in nuclear membrane organization; positive regulation of ATPase activity; and protein localization to nucleus. Predicted to act upstream of or within protein localization to nuclear envelope. Located in nuclear envelope. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Y. Orthologous to human TOR1AIP1 (torsin 1A interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Testes (RPKM 163.5), Adrenal (RPKM 160.1) and 9 other tissues See more
Orthologs
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Genomic context

Location:
13q22
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 13 NC_086031.1 (70746941..70776382, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 13 NC_051348.1 (68196681..68226121, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 13 NC_005112.4 (73670649..73704668, complement)

Chromosome 13 - NC_086031.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC120096287 Neighboring gene centrosomal protein 350 Neighboring gene interferon induced transmembrane protein 2, pseudogene 2 Neighboring gene torsin 1A interacting protein 2 Neighboring gene family with sequence similarity 163, member A Neighboring gene uncharacterized LOC120096289 Neighboring gene ATP synthase F1 subunit gamma, pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

General gene information

Markers

Clone Names

  • MGC93149

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables ATPase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables ATPase activator activity ISO
Inferred from Sequence Orthology
more info
 
enables ATPase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ATPase binding ISO
Inferred from Sequence Orthology
more info
 
enables cytoskeletal protein binding ISO
Inferred from Sequence Orthology
more info
 
enables lamin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in nuclear membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within nuclear membrane organization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein localization to nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in nuclear membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
torsin-1A-interacting protein 1
Names
lamina-associated polypeptide 1B
lamina-associated polypeptide 1C
torsin A interacting protein 1

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_145092.2NP_659560.2  torsin-1A-interacting protein 1

    See identical proteins and their annotated locations for NP_659560.2

    Status: PROVISIONAL

    Source sequence(s)
    BC086987
    UniProtKB/Swiss-Prot
    Q5PQX1, Q62741, Q62754
    UniProtKB/TrEMBL
    A0A8I6AGC6, A6ICZ9
    Related
    ENSRNOP00000005280.4, ENSRNOT00000005280.8
    Conserved Domains (1) summary
    pfam05609
    Location:162582
    LAP1C; Lamina-associated polypeptide 1C (LAP1C)

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086031.1 Reference GRCr8

    Range
    70746941..70776382 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039090334.2XP_038946262.1  torsin-1A-interacting protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A8I6A2B4, A0A8I6AGC6
    Related
    ENSRNOP00000085745.1, ENSRNOT00000098741.2
    Conserved Domains (1) summary
    pfam05609
    Location:162547
    LAP1C; Lamina-associated polypeptide 1C (LAP1C)
  2. XM_006250028.5XP_006250090.1  torsin-1A-interacting protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006250090.1

    Conserved Domains (1) summary
    pfam05609
    Location:1395
    LAP1C; Lamina-associated polypeptide 1C (LAP1C)
  3. XM_006250027.5XP_006250089.1  torsin-1A-interacting protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006250089.1

    Conserved Domains (1) summary
    pfam05609
    Location:1395
    LAP1C; Lamina-associated polypeptide 1C (LAP1C)