Q33E94 · RFX4_HUMAN
- ProteinTranscription factor RFX4
- GeneRFX4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids735 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Transcription factor that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development. May be required for neural tube ciliogenesis during embryogenesis (By similarity).
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 44-126 | |||||
Sequence: NEEKENNRASKPHSTPATLQWLEENYEIAEGVCIPRSALYMHYLDFCEKNDTQPVNAASFGKIIRQQFPQLTTRRLGTRGQSK | ||||||
DNA binding | 61-136 | RFX-type winged-helix | ||||
Sequence: TLQWLEENYEIAEGVCIPRSALYMHYLDFCEKNDTQPVNAASFGKIIRQQFPQLTTRRLGTRGQSKYHYYGIAVKE |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | chromatin | |
Cellular Component | nucleus | |
Molecular Function | DNA-binding transcription activator activity, RNA polymerase II-specific | |
Molecular Function | DNA-binding transcription factor activity, RNA polymerase II-specific | |
Molecular Function | RNA polymerase II cis-regulatory region sequence-specific DNA binding | |
Molecular Function | sequence-specific double-stranded DNA binding | |
Biological Process | cilium assembly | |
Biological Process | negative regulation of smoothened signaling pathway | |
Biological Process | positive regulation of transcription by RNA polymerase II | |
Biological Process | regulation of protein processing | |
Biological Process | regulation of transcription by RNA polymerase II | |
Biological Process | telencephalon development |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranscription factor RFX4
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ33E94
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_037873 | 687 | ||||
Sequence: S → N | ||||||
Natural variant | VAR_057152 | 698 | in dbSNP:rs17038766 | |||
Sequence: S → A |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 807 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000314237 | 1-735 | Transcription factor RFX4 | |||
Sequence: MHCGLLEEPDMDSTESWIERCLNESENKRYSSHTSLGNVSNDENEEKENNRASKPHSTPATLQWLEENYEIAEGVCIPRSALYMHYLDFCEKNDTQPVNAASFGKIIRQQFPQLTTRRLGTRGQSKYHYYGIAVKESSQYYDVMYSKKGAAWVSETGKKEVSKQTVAYSPRSKLGTLLPEFPNVKDLNLPASLPEEKVSTFIMMYRTHCQRILDTVIRANFDEVQSFLLHFWQGMPPHMLPVLGSSTVVNIVGVCDSILYKAISGVLMPTVLQALPDSLTQVIRKFAKQLDEWLKVALHDLPENLRNIKFELSRRFSQILRRQTSLNHLCQASRTVIHSADITFQMLEDWRNVDLNSITKQTLYTMEDSRDEHRKLITQLYQEFDHLLEEQSPIESYIEWLDTMVDRCVVKVAAKRQGSLKKVAQQFLLMWSCFGTRVIRDMTLHSAPSFGSFHLIHLMFDDYVLYLLESLHCQERANELMRAMKGEGSTAEVREEIILTEAAAPTPSPVPSFSPAKSATSVEVPPPSSPVSNPSPEYTGLSTTGAMQSYTWSLTYTVTTAAGSPAENSQQLPCMRNTHVPSSSVTHRIPVYPHREEHGYTGSYNYGSYGNQHPHPMQSQYPALPHDTAISGPLHYAPYHRSSAQYPFNSPTSRMEPCLMSSTPRLHPTPVTPRWPEVPSANTCYTSPSVHSARYGNSSDMYTPLTTRRNSEYEHMQHFPGFAYINGEASTGWAK |
Proteomic databases
PTM databases
Expression
Tissue specificity
Isoform 1: Expressed in brain and gliomas (at protein level). Isoform 2: Testis-specific (at protein level). Isoform 3: Testis-specific (at protein level). Isoform 3: Expressed at a higher level in adult testes and ejaculated spermatozoa than in fetal testes. Isoform 4: Testis-specific.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homodimer. Heterodimer with RFX2 and RFX3 (PubMed:11682486).
Interacts with GPS2 (By similarity).
Interacts with GPS2 (By similarity).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
XENO | Q33E94 | tax P14079 | 3 | EBI-9675925, EBI-9675698 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 27-59 | Disordered | ||||
Sequence: NKRYSSHTSLGNVSNDENEEKENNRASKPHSTP | ||||||
Region | 315-487 | Necessary for dimerization | ||||
Sequence: RFSQILRRQTSLNHLCQASRTVIHSADITFQMLEDWRNVDLNSITKQTLYTMEDSRDEHRKLITQLYQEFDHLLEEQSPIESYIEWLDTMVDRCVVKVAAKRQGSLKKVAQQFLLMWSCFGTRVIRDMTLHSAPSFGSFHLIHLMFDDYVLYLLESLHCQERANELMRAMKGE | ||||||
Region | 504-540 | Disordered | ||||
Sequence: APTPSPVPSFSPAKSATSVEVPPPSSPVSNPSPEYTG |
Sequence similarities
Belongs to the RFX family.
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing.
Q33E94-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsRFX4-D, RFX4_v3
- Length735
- Mass (Da)83,368
- Last updated2011-05-03 v2
- Checksum9C2422428B9D7E8B
Q33E94-2
- Name2
- SynonymsRFX4-C, RFX4_v4
- Differences from canonical
- 1-12: MHCGLLEEPDMD → MIKRRAHPGAGGDRTRPRRRR
Q33E94-3
- Name3
- SynonymsRFX4-A, RFX4_v1
Q33E94-4
- Name4
Computationally mapped potential isoform sequences
There are 6 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_030243 | 1-12 | in isoform 2 and isoform 4 | |||
Sequence: MHCGLLEEPDMD → MIKRRAHPGAGGDRTRPRRRR | ||||||
Alternative sequence | VSP_030242 | 1-94 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_030244 | 95-126 | in isoform 3 | |||
Sequence: TQPVNAASFGKIIRQQFPQLTTRRLGTRGQSK → MNWAAFGGSEFFIPEGIQIDSRCPLSRNITEW | ||||||
Sequence conflict | 417 | in Ref. 3; AAK17191 | ||||
Sequence: Q → R | ||||||
Sequence conflict | 423 | in Ref. 4; BAC11288 | ||||
Sequence: V → E | ||||||
Sequence conflict | 477 | in Ref. 7; AAH28582 | ||||
Sequence: A → T | ||||||
Sequence conflict | 522 | in Ref. 1; AAM52484 | ||||
Sequence: V → M | ||||||
Alternative sequence | VSP_030245 | 546-554 | in isoform 4 | |||
Sequence: AMQSYTWSL → NGKSFKNFG | ||||||
Sequence conflict | 549 | in Ref. 2; BAE48231/BAE48237/BAE48238 and 3; AAK17191 | ||||
Sequence: S → A | ||||||
Alternative sequence | VSP_030246 | 555-735 | in isoform 4 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY102009 EMBL· GenBank· DDBJ | AAM52484.1 EMBL· GenBank· DDBJ | mRNA | ||
AB095365 EMBL· GenBank· DDBJ | BAE48231.1 EMBL· GenBank· DDBJ | mRNA | ||
AB095366 EMBL· GenBank· DDBJ | BAE48232.1 EMBL· GenBank· DDBJ | mRNA | ||
AB195784 EMBL· GenBank· DDBJ | BAE48237.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AB195785 EMBL· GenBank· DDBJ | BAE48238.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AF332192 EMBL· GenBank· DDBJ | AAK17191.1 EMBL· GenBank· DDBJ | mRNA | ||
AK074913 EMBL· GenBank· DDBJ | BAC11288.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK291445 EMBL· GenBank· DDBJ | BAF84134.1 EMBL· GenBank· DDBJ | mRNA | ||
AK315698 EMBL· GenBank· DDBJ | BAG38061.1 EMBL· GenBank· DDBJ | mRNA | ||
AC009721 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC079385 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471054 EMBL· GenBank· DDBJ | EAW97783.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471054 EMBL· GenBank· DDBJ | EAW97784.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471054 EMBL· GenBank· DDBJ | EAW97782.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC028582 EMBL· GenBank· DDBJ | AAH28582.1 EMBL· GenBank· DDBJ | mRNA | ||
BC030644 EMBL· GenBank· DDBJ | AAH30644.1 EMBL· GenBank· DDBJ | mRNA | ||
AB044245 EMBL· GenBank· DDBJ | BAB59001.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
AL833921 EMBL· GenBank· DDBJ | CAD38777.1 EMBL· GenBank· DDBJ | mRNA |