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

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; AllianceGenome:HGNC:29456
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; LAP1C; 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: mouse all
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Genomic context

Location:: 1q25.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (179882285..179920076)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (179238027..179275744)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (179851420..179889211)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

TOR1AIP1-Associated Nuclear Envelopathies.
Title: TOR1AIP1-Associated Nuclear Envelopathies.
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
Title: Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
All seven patients are homozygous for a nonsense mutation in the TOR1AIP1 gene resulting in the loss of both protein isoforms LAP1B and LAP1C.
Title: Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
LAP1 protein encoded by TOR1AIP1 may play a role in dysferlinopathy pathogenesis
Title: Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene.
LAP1 co-localizes with acetylated alpha-tubulin in the mitotic spindle and with gamma-tubulin in centrosomes (main microtubule organizing center) in mitotic cells.
Title: LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression.
Data show that mutation of arginine 563 in lamina-associated polypeptide 1 (LAP1) reduces its ability to stimulate TorsinA ATPase hydrolysis.
Title: How lamina-associated polypeptide 1 (LAP1) activates Torsin.
study described a new autosomal recessive nuclear envelope disease caused by a homozygous mutation in exon 1 of TOR1AIP1 encoding LAP1B; study expands the spectrum of genes associated with nuclear envelopathies and highlights critical function for LAP1B in striated muscle
Title: Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.
Data indicate that the protein phosphatase 1 (PP1) binding domain in nuclear membrane protein lamina associated polypeptide 1B (LAP1B) was here identified as the REVRF motif at amino acids 55-59.
Title: The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate.
Molecular cloning of LAP1B & the role of the protein domains in localization of LAP1B to nuclear and endoplasmic reticulum membranes was determined
Title: Molecular cloning of one isotype of human lamina-associated polypeptide 1s and a topological analysis using its deletion mutants.

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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
Autosomal recessive limb-girdle muscular dystrophy type 2Y MedGen: C4511482 OMIM: 617072 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57100 (e-PCR)
- UniSTS:58881

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-75997 (e-PCR)
- UniSTS:9789

RH98531 (e-PCR)
- UniSTS:88936

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytoskeletal protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lamin binding	IEA Inferred from Electronic Annotation more info
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
involved_in positive regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to nuclear envelope	IEA Inferred from Electronic Annotation 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 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	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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.

Genomic

NG_042316.1 RefSeqGene

Range

5244..43035

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001267578.2 → NP_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/TrEMBL

J3KN66

Related

ENSP00000435365.2, ENST00000528443.6

Conserved Domains (1) summary

pfam05609
Location:159 → 583

LAP1C; Lamina-associated polypeptide 1C (LAP1C)
NM_015602.4 → NP_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

A0A0A0MSK5, A8K630, B0QZ57, Q5JTV6, Q5JTV8, Q8IZ65, Q9H8Y6, Q9HAJ1, Q9NV52, Q9Y3X5

UniProtKB/TrEMBL

J3KN66

Related

ENSP00000476687.1, ENST00000606911.7

Conserved Domains (1) summary

pfam05609
Location:159 → 582

LAP1C; Lamina-associated polypeptide 1C (LAP1C)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

179882285..179920076

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

179238027..179275744

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.