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TOR1AIP1 torsin 1A interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 26092, updated on 5-Aug-2018

Summary

Official Symbol
TOR1AIP1provided by HGNC
Official Full Name
torsin 1A interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:29456
See related
Ensembl:ENSG00000143337 MIM:614512; Vega:OTTHUMG00000035257
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAP1; LAP1B; LGMD2Y
Summary
This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Expression
Ubiquitous expression in thyroid (RPKM 27.1), ovary (RPKM 27.0) and 25 other tissues See more
Orthologs

Genomic context

See TOR1AIP1 in Genome Data Viewer
Location:
1q25.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (179882042..179920077)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179851177..179889212)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985229 Neighboring gene torsin 1A interacting protein 2 Neighboring gene RNA, 7SL, cytoplasmic 230, pseudogene Neighboring gene uncharacterized LOC101928933 Neighboring gene centrosomal protein 350 Neighboring gene ribosomal protein SA pseudogene 16

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Interaction of HIV-1 Tat with lamina-associated polypeptide 1B in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3413, FLJ13142, DKFZp586G011

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
cytoskeletal protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lamin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
nuclear membrane organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_042316.1 RefSeqGene

    Range
    5001..43036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001267578.1NP_001254507.1  torsin-1A-interacting protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL353708, CN360425
    Consensus CDS
    CCDS65737.1
    UniProtKB/Swiss-Prot
    Q5JTV8
    Related
    ENSP00000435365.2, OTTHUMP00000033190, ENST00000528443.6, OTTHUMT00000085291
    Conserved Domains (1) summary
    pfam05609
    Location:159583
    LAP1C; Lamina-associated polypeptide 1C (LAP1C)
  2. NM_015602.3NP_056417.2  torsin-1A-interacting protein 1 isoform 2

    See identical proteins and their annotated locations for NP_056417.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK021613, AL353708
    Consensus CDS
    CCDS1335.1
    UniProtKB/Swiss-Prot
    Q5JTV8
    Related
    ENSP00000476687.1, OTTHUMP00000039113, ENST00000606911.6, OTTHUMT00000100313
    Conserved Domains (1) summary
    pfam05609
    Location:159582
    LAP1C; Lamina-associated polypeptide 1C (LAP1C)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    179882042..179920077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509403.2XP_011507705.1  torsin-1A-interacting protein 1 isoform X1

    UniProtKB/TrEMBL
    J3KN66
    Related
    ENSP00000271583.3, OTTHUMP00000235142, ENST00000271583.7
    Conserved Domains (1) summary
    pfam05609
    Location:159598
    LAP1C; Lamina-associated polypeptide 1C (LAP1C)
  2. XM_011509404.2XP_011507706.1  torsin-1A-interacting protein 1 isoform X2

    Conserved Domains (1) summary
    pfam05609
    Location:159597
    LAP1C; Lamina-associated polypeptide 1C (LAP1C)
  3. XM_024446305.1XP_024302073.1  torsin-1A-interacting protein 1 isoform X3

    Conserved Domains (1) summary
    pfam05609
    Location:17297
    LAP1C; Lamina-associated polypeptide 1C (LAP1C)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032678.1: Suppressed sequence

    Description
    NM_032678.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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