Gene Gene information from NCBI Gene database.
Entrez ID 4799
Gene name Nuclear transcription factor, X-box binding 1
Gene symbol NFX1
Synonyms (NCBI Gene)
NFX2TEG-42Tex42
Chromosome 9
Chromosome location 9p13.3
Summary MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a
miRNA miRNA information provided by mirtarbase database.
196
miRTarBase ID miRNA Experiments Reference
MIRT647717 hsa-miR-6499-3p HITS-CLIP 23313552
MIRT647716 hsa-miR-3135b HITS-CLIP 23313552
MIRT647715 hsa-miR-504-3p HITS-CLIP 23313552
MIRT647714 hsa-miR-122-5p HITS-CLIP 23313552
MIRT647711 hsa-miR-3652 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 7964459
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 7964459
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603255 7803 ENSG00000086102
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12986
Protein name Transcriptional repressor NF-X1 (EC 2.3.2.-) (Nuclear transcription factor, X box-binding protein 1)
Protein function Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gam
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01422 zf-NF-X1 453 470 NF-X1 type zinc finger Family
PF01422 zf-NF-X1 506 524 NF-X1 type zinc finger Family
PF01422 zf-NF-X1 567 585 NF-X1 type zinc finger Family
PF01422 zf-NF-X1 622 654 NF-X1 type zinc finger Family
PF01422 zf-NF-X1 694 706 NF-X1 type zinc finger Family
PF01422 zf-NF-X1 721 739 NF-X1 type zinc finger Family
PF01422 zf-NF-X1 832 857 NF-X1 type zinc finger Family
PF01424 R3H 995 1060 R3H domain Domain
Sequence
MAEAPPVSGTFKFNTDAAEFIPQEKKNSGLNCGTQRRLDSNRIGRRNYSSPPPCHLSRQV
PYDEISAVHQHSYHPSGSKPKSQQTSFQSSPCNKSPKSHGLQNQPWQKLRNEKHHIRVKK
AQSLAEQTSDTAGLESSTRSESGTDLREHSPSESEKEVVGADPRGAKPKKATQFVYSYGR
GPKVKGKLKCEWSNRTTPKPEDAGPESTKPVGVFHPDSSEASSRKGVLDGYGARRNEQRR
YPQKRPPWEVEGARPRPGRNPPKQEGHRHTNAGHRNNMGPIPKDDLNERPAKSTCDSENL
AVINKSSRRVDQEKCTVRRQDPQVVSPFSRGKQNHVLKNVETHTGSLIEQLTTEKYECMV
CCELVRVTAPVWSCQSCYHVFHLNCIKKWARSPASQADGQSGWRCPACQNVSAHVPNTYT
CFCGKVKNPEWSRNEIPHSCGEVCRKKQPGQDCPHSCNLLCHPGPCPPCPAFMTKTCECG
RTRHTVRCGQAVSVHCSNPCENILNCGQHQCAELCHGGQCQPCQIILNQVCYCGSTSRDV
LCGTDVGKSDGFGDFSCLKICGKDLKCGNHTCSQVCHPQPCQQCPRLPQLVRCCPCGQTP
LSQLLELGSSSRKTCMDPVPSCGKVCGKPLPCGSLDFIHTCEKLCHEGDCGPCSRTSVIS
CRCSFRTKELPCTSLKSEDATFMCDKRCNKKRLCGRHKCNEICCVDKEHKCPLICGRKLR
CGLHRCEEPCHRGNCQTCWQASFDELTCHCGASVIYPPVPCGTRPPECTQTCARVHECDH
PVYHSCHSEEKCPPCTFLTQKWCMGKHEFRSNIPCHLVDISCGLPCSATLPCGMHKCQRL
CHKGECLVDEPCKQPCT
TPRADCGHPCMAPCHTSSPCPVTACKAKVELQCECGRRKEMVI
CSEASSTYQRIAAISMASKITDMQLGGSVEISKLITKKEVHQARLECDEECSALERKKRL
AEAFHISEDSDPFNIRSSGSKFSDSLKEDARKDLKFVSDVEKEMETLVEAVNKGKNSKKS
HSFPPMNRDHRRIIHDLAQVYGLESVSYDSEPKRNVVVTA
IRGKSVCPPTTLTGVLEREM
QARPPPPIPHHRHQSDKNPGSSNLQKITKEPIIDYFDVQD
Sequence length 1120
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Human papillomavirus infection  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Diseases Autoimmune disease Pubtator 7964459 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 30776478
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Diabetes mellitus, type 2 Pubtator 31517622 Stimulate
★☆☆☆☆
Found in Text Mining only
Intracranial Aneurysm Intracranial aneurysm Pubtator 31401562 Associate
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 31517622 Associate
★☆☆☆☆
Found in Text Mining only
Severe Combined Immunodeficiency Severe combined immunodeficiency Pubtator 7964459 Associate
★☆☆☆☆
Found in Text Mining only