Torsin-1A-interacting protein 1 - Homo sapiens

Torsin-1A-interacting protein 1 (Homo sapiens)

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Subcellular Location Biology & Function Disease Associations Interactions Cross-References

General Information

Protein Information
Protein Name	Torsin-1A-interacting protein 1
Accession Code	Q5JTV8
Gene	TOR1AIP1
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 583)
MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPAYRTPPSRQGRREVRFSDEPPEVYGDFEPLVAKERSP VGKRTRLEEFRSDSAKEEVRESAYYLRSRQRRQPRPQETEEMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSHSSEED EASSQTDLSQTISKKTVRSIQEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEGETEEDDQDSSHSSVTTVKARSR DSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQPSVLSSGYQKTPQEWAPQTARIRTRMQNDSILKSELGNQSPSTSS RQVTGQPQNASFVKRNRWWLLPLIAALASGSFWFFSTPEVETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQTFLEKHLNS SHPRSQPAILLLTAARDAEEALRCLSEQIADAYSSFRSVRAIRIDGTDKATQDSDTVKLEVDQELSNGFKNGQNAAVVHR FESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLGTSLGLKEVEEKVRDFLKVKFTNSNTPNSYNHMDPDKLNGL WSRISHLVLPVQPENALKRGICL

Structure Viewer (PDB: 4TVS)

Subcellular Location

Description
Nucleus inner membrane {Experimental EvidencePubMed:12061773, Experimental EvidencePubMed:24275647}; Single-pass membrane protein {Experimental EvidencePubMed:12061773, Experimental EvidencePubMed:24275647}.
Position in the Nuclear Envelope
Location	Location ID	Description
Nuclear Envelope	SL-0178	The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space.
Nuclear Inner Membrane	SL-0179	The inner membrane of the nucleus is the membrane which separates the nuclear matrix from the intermembrane space. In mammals, the inner nuclear membrane is associated with heterochromatin and the nuclear lamina.
Nuclear Membrane	SL-0182	The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane.
Membrane Topology
Topology	Source	Annotation Type
Transmembrane	UniProt	Sequence Analysis {ECO:0000255}
Assigned Ontology terms

Cellular Component	Membrane (GO:0016020) Nuclear Inner Membrane (GO:0005637) Nuclear Membrane (GO:0031965) Nucleus (GO:0005634)

Biology & Function

Description
Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina. {Experimental EvidencePubMed:23569223}.
Assigned Ontology terms

Biological Process	Membrane Organization (GO:0061024) Nuclear Membrane Organization (GO:0071763) Positive Regulation Of ATP-Dependent Activity (GO:0032781) Protein Localization To Nuclear Envelope (GO:0090435) Protein Localization To Nucleus (GO:0034504)
Molecular Function	ATPase Activator Activity (GO:0001671) ATPase Binding (GO:0051117) Cytoskeletal Protein Binding (GO:0008092) Lamin Binding (GO:0005521)

Disease associations

Description
Myopathy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC) [MIM:617072]: An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life. {Experimental EvidencePubMed:24856141}. Note=The disease is caused by variants affecting the gene represented in this entry.
Database Associations
OMIM	614512 617072
DisGeNET	26092

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (8 interactors)

Partner (NucEnvDB)		IntAct	Confidence score
O14656	Torsin-1A	EBI-26365158	0.54
O14657	Torsin-1B	EBI-15853118	0.40
Q921T2	Torsin-1A-interacting protein 1	EBI-2559664	0.40
O95831	Apoptosis-inducing factor 1, mitochondrial	EBI-11159793	0.53
P02545	Lamin-A/C	EBI-16795756	0.27
P13285	Latent membrane protein 2	EBI-11733017	0.35
P0DTD1	2'-O-methyltransferase nsp16	EBI-25491011	0.53
P01112	GTPase HRas, N-terminally processed	EBI-27045317	0.27
Interactions with other proteins (65 interactors)

Partner (UniProt)		IntAct	Confidence score
Q9Z1B5	Mitotic spindle assembly checkpoint protein MAD2A (Mitotic arrest deficient 2-like protein 1) (MAD2-like protein 1)	EBI-2560653	0.56
P62136	Serine/threonine-protein phosphatase PP1-alpha catalytic subunit (PP-1A) (EC 3.1.3.16)	EBI-5549941	0.57
P0DOE9	Non-structural protein 1 (NS1) (Non-structural protein 1C)	EBI-6138583	0.35
Q5S007	Leucine-rich repeat serine/threonine-protein kinase 2 (EC 2.7.11.1) (EC 3.6.5.-) (Dardarin)	EBI-9515510	0.35
Q16659	Mitogen-activated protein kinase 6 (MAP kinase 6) (MAPK 6) (EC 2.7.11.24) (Extracellular signal-regulated kinase 3) (ERK-3) (MAP kinase isoform p97) (p97-MAPK)	EBI-12502733	0.35
P36895	Bone morphogenetic protein receptor type-1A (BMP type-1A receptor) (BMPR-1A) (EC 2.7.11.30) (Activin receptor-like kinase 3) (ALK-3) (BMP-2/BMP-4 receptor) (Serine/threonine-protein kinase receptor R5) (SKR5) (CD antigen CD292)	EBI-11008521	0.35
Q13257	Mitotic spindle assembly checkpoint protein MAD2A (HsMAD2) (Mitotic arrest deficient 2-like protein 1) (MAD2-like protein 1)	EBI-11147019	0.35
P35813	Protein phosphatase 1A (EC 3.1.3.16) (Protein phosphatase 2C isoform alpha) (PP2C-alpha) (Protein phosphatase IA)	EBI-11159793	0.35
Q04637	Eukaryotic translation initiation factor 4 gamma 1 (eIF-4-gamma 1) (eIF-4G 1) (eIF-4G1) (p220)	EBI-11159793	0.35
P10599	Thioredoxin (Trx) (ATL-derived factor) (ADF) (Surface-associated sulphydryl protein) (SASP) (allergen Hom s Trx)	EBI-11159793	0.35
Q9H792	Inactive tyrosine-protein kinase PEAK1 (Pseudopodium-enriched atypical kinase 1) (Sugen kinase 269) (Tyrosine-protein kinase SgK269)	EBI-11159793	0.35
Q969N2	GPI transamidase component PIG-T (Phosphatidylinositol-glycan biosynthesis class T protein)	EBI-11159793	0.35
Q9NX63	MICOS complex subunit MIC19 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 3)	EBI-11159793	0.35
O94782	Ubiquitin carboxyl-terminal hydrolase 1 (EC 3.4.19.12) (Deubiquitinating enzyme 1) (hUBP) (Ubiquitin thioesterase 1) (Ubiquitin-specific-processing protease 1) [Cleaved into: Ubiquitin carboxyl-terminal hydrolase 1, N-terminal fragment]	EBI-11159793	0.35
Q8TEX9	Importin-4 (Imp4) (Importin-4b) (Imp4b) (Ran-binding protein 4) (RanBP4)	EBI-11159793	0.35
Q9UBW8	COP9 signalosome complex subunit 7a (SGN7a) (Signalosome subunit 7a) (Dermal papilla-derived protein 10) (JAB1-containing signalosome subunit 7a)	EBI-11159793	0.35
Q9UHQ1	Nuclear prelamin A recognition factor (Iron-only hydrogenase-like protein 2) (IOP2)	EBI-11159793	0.35
Q9UHL9	General transcription factor II-I repeat domain-containing protein 1 (GTF2I repeat domain-containing protein 1) (General transcription factor III) (MusTRD1/BEN) (Muscle TFII-I repeat domain-containing protein 1) (Slow-muscle-fiber enhancer-binding protein) (USE B1-binding protein) (Williams-Beuren syndrome chromosomal region 11 protein) (Williams-Beuren syndrome chromosomal region 12 protein)	EBI-11159793	0.35
Q8N565	Melanoregulin (Dilute suppressor protein homolog)	EBI-11159793	0.35
Q8N4Q1	Mitochondrial intermembrane space import and assembly protein 40 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 4)	EBI-11159793	0.35
Q5HYA8	Meckelin (Meckel syndrome type 3 protein) (Transmembrane protein 67)	EBI-11367583	0.27
Q6NUS6	Tectonic-3	EBI-11368748	0.27
Q86UK5	Limbin (Ellis-van Creveld syndrome protein 2) (EVC2)	EBI-11372136	0.27
Q86X19	Transmembrane protein 17	EBI-11372615	0.27
Q96GX1	Tectonic-2	EBI-11375285	0.27
Q9P0N5	Transmembrane protein 216	EBI-11378021	0.27
Q2MV58	Tectonic-1	EBI-11384104	0.27
Q96Q45	Transmembrane protein 237 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein)	EBI-11396533	0.27
Q9NYB0	Telomeric repeat-binding factor 2-interacting protein 1 (TERF2-interacting telomeric protein 1) (TRF2-interacting telomeric protein 1) (Dopamine receptor-interacting protein 5) (Repressor/activator protein 1 homolog) (RAP1 homolog) (hRap1)	EBI-11306670	0.51
Q15554	Telomeric repeat-binding factor 2 (TTAGGG repeat-binding factor 2) (Telomeric DNA-binding protein)	EBI-11306660	0.37
C5E526	RNA-directed RNA polymerase catalytic subunit (EC 2.7.7.48) (Polymerase basic protein 1) (PB1) (RNA-directed RNA polymerase subunit P1)	EBI-12584472	0.35
Q8IWL3	Iron-sulfur cluster co-chaperone protein HscB (DnaJ homolog subfamily C member 20) [Cleaved into: Iron-sulfur cluster co-chaperone protein HscB, cytoplasmic (C-HSC20); Iron-sulfur cluster co-chaperone protein HscB, mitochondrial]	EBI-13943458	0.35
Q9NS85	Carbonic anhydrase-related protein 10 (Carbonic anhydrase-related protein X) (CA-RP X) (CARP X) (Cerebral protein 15)	EBI-21798936	0.35
Q96M94	Kelch-like protein 15	EBI-21820342	0.35
Q15013	MAD2L1-binding protein (Caught by MAD2 protein) (p31(comet))	EBI-21820342	0.35
Q5JU69	Torsin-2A (Torsin family 2 member A) (Torsin-related protein 1)	EBI-15853028	0.40
Q9H497	Torsin-3A (ATP-dependent interferon-responsive protein) (Torsin family 3 member A)	EBI-15853095	0.40
P27824	Calnexin (IP90) (Major histocompatibility complex class I antigen-binding protein p88) (p90)	EBI-16788621	0.27
P11279	Lysosome-associated membrane glycoprotein 1 (LAMP-1) (Lysosome-associated membrane protein 1) (CD107 antigen-like family member A) (CD antigen CD107a)	EBI-16794808	0.27
O43493	Trans-Golgi network integral membrane protein 2 (Trans-Golgi network glycoprotein 46) (TGN38 homolog) (hTGN46) (Trans-Golgi network glycoprotein 48) (hTGN48) (Trans-Golgi network glycoprotein 51) (hTGN51) (Trans-Golgi network protein 2)	EBI-16801466	0.27
O60506	Heterogeneous nuclear ribonucleoprotein Q (hnRNP Q) (Glycine- and tyrosine-rich RNA-binding protein) (GRY-RBP) (NS1-associated protein 1) (Synaptotagmin-binding, cytoplasmic RNA-interacting protein)	EBI-20932664	0.40
P62807	Histone H2B type 1-C/E/F/G/I (Histone H2B.1 A) (Histone H2B.a) (H2B/a) (Histone H2B.g) (H2B/g) (Histone H2B.h) (H2B/h) (Histone H2B.k) (H2B/k) (Histone H2B.l) (H2B/l)	EBI-25471348	0.27
P36873	Serine/threonine-protein phosphatase PP1-gamma catalytic subunit (PP-1G) (EC 3.1.3.16) (Protein phosphatase 1C catalytic subunit)	EBI-21448155	0.59
Q02750	Dual specificity mitogen-activated protein kinase kinase 1 (MAP kinase kinase 1) (MAPKK 1) (MKK1) (EC 2.7.12.2) (ERK activator kinase 1) (MAPK/ERK kinase 1) (MEK 1)	EBI-25382666	0.35
Q8N302	Angiogenic factor with G patch and FHA domains 1 (Angiogenic factor VG5Q) (hVG5Q) (G patch domain-containing protein 7) (Vasculogenesis gene on 5q protein)	EBI-25917997	0.56
Q13573	SNW domain-containing protein 1 (Nuclear protein SkiP) (Nuclear receptor coactivator NCoA-62) (Ski-interacting protein)	EBI-25917977	0.56
Q06323	Proteasome activator complex subunit 1 (11S regulator complex subunit alpha) (REG-alpha) (Activator of multicatalytic protease subunit 1) (Interferon gamma up-regulated I-5111 protein) (IGUP I-5111) (Proteasome activator 28 subunit alpha) (PA28a) (PA28alpha)	EBI-25917967	0.56
Q9NSI6	Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9)	EBI-25917987	0.56
Q496A3	Spermatogenesis-associated serine-rich protein 1	EBI-25918017	0.56
Q8WUU4	Zinc finger protein 296 (ZFP296) (Zinc finger protein 342)	EBI-25918007	0.56
P01116	GTPase KRas (EC 3.6.5.2) (K-Ras 2) (Ki-Ras) (c-K-ras) (c-Ki-ras) [Cleaved into: GTPase KRas, N-terminally processed]	EBI-27041844	0.27
P01111	GTPase NRas (EC 3.6.5.2) (Transforming protein N-Ras)	EBI-27042293	0.27
A0A0H3NFP4	SPI-2 type III secretion system effector SifA (Type III secretion system effector protein-necessary for Sif formation and maintaining the SCV. Has GAP activity)	EBI-27055788	0.27
A0A0H3NG92	Type III secretion system effector protein-regulates and maintains the SCV (Type III secretion systems effector SseF)	EBI-27055968	0.27
A0A0H3NF08	SPI-2 type III secretion system effector PipB2 (Type III secretion system effector protein, Contributes to Sif formation)	EBI-27055973	0.27
A0A0H3NB75	Pathogenicity island 2 effector protein SseG (Type III secretion system effector protein-modulates the positioning of the SCV)	EBI-27055983	0.27
P42695	Condensin-2 complex subunit D3 (Non-SMC condensin II complex subunit D3) (hCAP-D3)	EBI-28951349	0.35
P30530	Tyrosine-protein kinase receptor UFO (EC 2.7.10.1) (AXL oncogene)	EBI-32719959	0.27
Q5JZY3	Ephrin type-A receptor 10 (EC 2.7.10.1)	EBI-32720634	0.27
P29322	Ephrin type-A receptor 8 (EC 2.7.10.1) (EPH- and ELK-related kinase) (EPH-like kinase 3) (EK3) (hEK3) (Tyrosine-protein kinase receptor EEK)	EBI-32721175	0.27
P08069	Insulin-like growth factor 1 receptor (EC 2.7.10.1) (Insulin-like growth factor I receptor) (IGF-I receptor) (CD antigen CD221) [Cleaved into: Insulin-like growth factor 1 receptor alpha chain; Insulin-like growth factor 1 receptor beta chain]	EBI-32722947	0.27
P06213	Insulin receptor (IR) (EC 2.7.10.1) (CD antigen CD220) [Cleaved into: Insulin receptor subunit alpha; Insulin receptor subunit beta]	EBI-32723092	0.27
Q16288	NT-3 growth factor receptor (EC 2.7.10.1) (GP145-TrkC) (Trk-C) (Neurotrophic tyrosine kinase receptor type 3) (TrkC tyrosine kinase)	EBI-32724526	0.27
P07949	Proto-oncogene tyrosine-protein kinase receptor Ret (EC 2.7.10.1) (Cadherin family member 12) (Proto-oncogene c-Ret) [Cleaved into: Soluble RET kinase fragment; Extracellular cell-membrane anchored RET cadherin 120 kDa fragment]	EBI-32725031	0.27
Q5W0V3	FHF complex subunit HOOK interacting protein 2A (FHIP2A)	EBI-34574999	0.27

Cross-References

Database	Links
UNIPROT	Q5JTV8 A8K630 B0QZ57 Q5JTV6 Q8IZ65 Q9H8Y6 Q9HAJ1 Q9NV52 Q9Y3X5
PDB	4TVS
Pfam	PF05609
OMIM	614512 617072
DisGeNET	26092

Torsin-1A-interacting protein 1 (Homo sapiens)

General Information

Protein Information

Structure Viewer (PDB: 4TVS)

Subcellular Location

Description Show

Position in the Nuclear Envelope

Membrane Topology

Assigned Ontology terms

Biology & Function

Description Hide

Assigned Ontology terms

Disease associations

Description

Database Associations

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (8 interactors)

Interactions with other proteins (65 interactors)

Cross-References

Database

Links

Description

Description