Reactome | NTHL1 Q287* [nucleoplasm]

NTHL1 Q287* [nucleoplasm]

Stable Identifier

R-HSA-9630213

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

NTHL1 Gln287*, NTHL1 Q287TER, NTHL1 Gln287Ter

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Literature References

PubMed ID	Title	Journal	Year
27713038	Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review Broderick, P, Dobbins, SE, Chubb, D, Kinnersley, B, Dunlop, MG, Tomlinson, I, Houlston, RS	Gastroenterology	2017

External Reference Information

External Reference

UniProt:P78549 NTHL1

Gene Names

NTHL1, NTH1, OCTS3

Chain

transit peptide:1-22, chain:23-304

Reference Genes

BioGPS Gene:4913 NTHL1

COSMIC (genes):NTHL1 NTHL1

CTD Gene:4913 NTHL1

dbSNP Gene:4913 NTHL1

ENSEMBL:ENSG00000065057 NTHL1

HGNC:8028 NTHL1

KEGG:hsa:4913 NTHL1

Monarch:4913 NTHL1

NCBI Gene:4913 NTHL1

OMIM:602656 NTHL1

UCSC:P78549 NTHL1

Reference Transcript

Other Identifiers

11721157_at

11761575_at

16822953

209731_PM_at

209731_at

3676396

3676397

3676398

3676399

3676400

3676401

3676402

3676403

3676404

3676405

3676406

3676407

3676408

3676409

3676410

3676411

3676412

40325_at

4913

7998692

A_23_P88904

GE59456

GO:0000703

GO:0003677

GO:0003684

GO:0003690

GO:0003824

GO:0003906

GO:0004519

GO:0005515

GO:0005634

GO:0005654

GO:0005739

GO:0006281

GO:0006284

GO:0006285

GO:0006289

GO:0006950

GO:0006974

GO:0008534

GO:0016787

GO:0016798

GO:0016829

GO:0019104

GO:0045008

GO:0046872

GO:0051536

GO:0051539

GO:0055086

GO:0140078

GO:0140097

GO:1901135

HMNXSV003054229

ILMN_2227968

PH_hs_0004048

TC16000772.hg

U79718_at

g1800270_3p_at

Participates

as a candidate of

NTHL1 truncation mutants [nucleoplasm] (Homo sapiens)

Other forms of this molecule

NTHL1 D239Y [nucleoplasm]

NTHL1 Q90* [nucleoplasm]

NTHL1 [nucleoplasm]

Modified Residues

Name

Nonsense mutation at L-glutamine 287

Coordinate

287

PsiMod

L-glutamine removal [MOD:01637]

A protein modification that effectively removes or replaces an L-glutamine.

Disease

Name	Identifier	Synonyms
familial adenomatous polyposis	DOID:0050424	adenomatous polyposis of the colon
colorectal cancer	DOID:9256

Cross References

RefSeq

NP_002519.2, NP_001305123.1, NP_001305122.1

ENSEMBL

ENST00000651570, ENSP00000219066, ENSG00000065057, ENST00000219066, ENSP00000498421

OpenTargets

ENSG00000065057

Mondo

0021055

IntEnz

4.2.99.18

GeneCards

NTHL1

HPA

ENSG00000065057-NTHL1

PRO

P78549

Pharos - Targets

P78549

Orphanet

NTHL1

PDB

7RDS, 7RDT

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9H8M7 MINY3			0.527	2