Q33E94 (RFX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 74.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Transcription factor RFX4 Alternative name(s): Regulatory factor X 4 Testis development protein NYD-SP10 | ||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 735 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May activate transcription by interacting directly with the X-box By similarity. |
| Subunit structure | Homodimer. Heterodimer with RFX2 and RFX3. Binds DNA. |
| Subcellular location | Nucleus By similarity. |
| Tissue specificity | Isoform 4 is testis-specific. Isoform 1 is expressed in brain and gliomas. Isoform 2 and isoform 3 are testis-specific (at protein level). Isoform 1 is expressed in brain (at protein level). Isoform 3 is expressed at a higher level in adult testes and ejaculated spematozoa than in fetal testes. Ref.2 Ref.3 Ref.8 |
| Sequence similarities | Belongs to the RFX family. Contains 1 RFX-type winged-helix DNA-binding domain. |
| Sequence caution | The sequence BAB59001.1 differs from that shown. Reason: Probable intron retention. The sequence BAC11288.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAE48237.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAE48238.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q33E94-1) Also known as: RFX4-D; RFX4_v3; 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. | ||||||
| Isoform 2 (identifier: Q33E94-2) Also known as: RFX4-C; RFX4_v4; The sequence of this isoform differs from the canonical sequence as follows: 1-12: MHCGLLEEPDMD → MIKRRAHPGAGGDRTRPRRRR | ||||||
| Isoform 3 (identifier: Q33E94-3) Also known as: RFX4-A; RFX4_v1; The sequence of this isoform differs from the canonical sequence as follows: 1-94: Missing. 95-126: TQPVNAASFGKIIRQQFPQLTTRRLGTRGQSK → MNWAAFGGSEFFIPEGIQIDSRCPLSRNITEW | ||||||
| Isoform 4 (identifier: Q33E94-4) The sequence of this isoform differs from the canonical sequence as follows: 1-12: MHCGLLEEPDMD → MIKRRAHPGAGGDRTRPRRRR 546-554: AMQSYTWSL → NGKSFKNFG 555-735: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 735 | 735 | Transcription factor RFX4 | PRO_0000314237 | |||||
Regions | |||||||||
| DNA binding | 44 – 126 | 83 | |||||||
| DNA binding | 61 – 136 | 76 | RFX-type winged-helix | ||||||
| Region | 315 – 487 | 173 | Necessary for dimerization | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 94 | 94 | Missing in isoform 3. | VSP_030242 | |||||
| Alternative sequence | 1 – 12 | 12 | MHCGL…EPDMD → MIKRRAHPGAGGDRTRPRRR R in isoform 2 and isoform 4. | VSP_030243 | |||||
| Alternative sequence | 95 – 126 | 32 | TQPVN…RGQSK → MNWAAFGGSEFFIPEGIQID SRCPLSRNITEW in isoform 3. | VSP_030244 | |||||
| Alternative sequence | 546 – 554 | 9 | AMQSYTWSL → NGKSFKNFG in isoform 4. | VSP_030245 | |||||
| Alternative sequence | 555 – 735 | 181 | Missing in isoform 4. | VSP_030246 | |||||
| Natural variant | 687 | 1 | S → N. Ref.2 Ref.3 | VAR_037873 | |||||
| Natural variant | 698 | 1 | S → A. Corresponds to variant rs17038766 [ dbSNP | Ensembl ]. | VAR_057152 | |||||
Experimental info | |||||||||
| Sequence conflict | 417 | 1 | Q → R in AAK17191. Ref.3 | ||||||
| Sequence conflict | 423 | 1 | V → E in BAC11288. Ref.4 | ||||||
| Sequence conflict | 477 | 1 | A → T in AAH28582. Ref.7 | ||||||
| Sequence conflict | 522 | 1 | V → M in AAM52484. Ref.1 | ||||||
| Sequence conflict | 549 | 1 | S → A in BAE48231. Ref.2 | ||||||
| Sequence conflict | 549 | 1 | S → A in BAE48237. Ref.2 | ||||||
| Sequence conflict | 549 | 1 | S → A in BAE48238. Ref.2 | ||||||
| Sequence conflict | 549 | 1 | S → A in AAK17191. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4." Blackshear P.J., Graves J.P., Stumpo D.J., Cobos I., Rubenstein J.L.R., Zeldin D.C. Development 130:4539-4552(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain. |
| [2] | "Identification of glioma-specific RFX4-E and -F isoforms and humoral immune response in patients." Matsushita H., Uenaka A., Ono T., Hasegawa K., Sato S., Koizumi F., Nakagawa K., Toda M., Shingo T., Ichikawa T., Noguchi Y., Tamiya T., Furuta T., Kawase T., Date I., Nakayama E. Cancer Sci. 96:801-809(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANT ASN-687. Tissue: Astrocytoma and Testis. |
| [3] | "Identification of a novel substrate for tyrosine kinase in human testes." Huang X., Zhou Z., Yin L., Zhu H., Wang L., Lin M., Zhou Y., Sha J. J. Nanosci. Nanotechnol. 5:1236-1239(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, VARIANT ASN-687. Tissue: Testis. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Brain and Testis. |
| [5] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Testis. |
| [8] | "Human regulatory factor X 4 (RFX4) is a testis-specific dimeric DNA-binding protein that cooperates with other human RFX members." Morotomi-Yano K., Yano K., Saito H., Sun Z., Iwama A., Miki Y. J. Biol. Chem. 277:836-842(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-545 (ISOFORM 4), TISSUE SPECIFICITY, INTERACTION WITH RFX2 AND RFX3. |
| [9] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 256-735 (ISOFORM 1). Tissue: Testis. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY102009 mRNA. Translation: AAM52484.1. AB095365 mRNA. Translation: BAE48231.1. AB095366 mRNA. Translation: BAE48232.1. AB195784 mRNA. Translation: BAE48237.1. Different initiation. AB195785 mRNA. Translation: BAE48238.1. Different initiation. AF332192 mRNA. Translation: AAK17191.1. AK074913 mRNA. Translation: BAC11288.1. Different initiation. AK291445 mRNA. Translation: BAF84134.1. AK315698 mRNA. Translation: BAG38061.1. AC009721 Genomic DNA. No translation available. AC079385 Genomic DNA. No translation available. CH471054 Genomic DNA. Translation: EAW97783.1. CH471054 Genomic DNA. Translation: EAW97784.1. CH471054 Genomic DNA. Translation: EAW97782.1. BC028582 mRNA. Translation: AAH28582.1. BC030644 mRNA. Translation: AAH30644.1. AB044245 mRNA. Translation: BAB59001.1. Sequence problems. AL833921 mRNA. Translation: CAD38777.1. |
| IPI | IPI00165990. IPI00419901. IPI00719141. IPI00878891. |
| RefSeq | NP_001193620.1. NM_001206691.1. NP_115880.2. NM_032491.5. NP_998759.1. NM_213594.2. |
| UniGene | Hs.388827. |
3D structure databases | |
| ProteinModelPortal | Q33E94. |
| SMR | Q33E94. Positions 61-135. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q33E94. |
Polymorphism databases | |
| DMDM | 121946871. |
Proteomic databases | |
| PaxDb | Q33E94. |
| PRIDE | Q33E94. |
Protocols and materials databases | |
| DNASU | 5992. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000229387; ENSP00000229387; ENSG00000111783. ENST00000357881; ENSP00000350552; ENSG00000111783. ENST00000392842; ENSP00000376585; ENSG00000111783. |
| GeneID | 5992. |
| KEGG | hsa:5992. |
| UCSC | uc001tlr.3. human. uc001tls.3. human. uc001tlt.3. human. |
Organism-specific databases | |
| CTD | 5992. |
| GeneCards | GC12P106976. |
| H-InvDB | HIX0037058. |
| HGNC | HGNC:9985. RFX4. |
| HPA | HPA050527. |
| MIM | 603958. gene. |
| neXtProt | NX_Q33E94. |
| PharmGKB | PA34355. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG243313. |
| HOVERGEN | HBG101271. |
| KO | K09174. |
| OMA | GAMQSYT. |
| OrthoDB | EOG4J3WGF. |
| PhylomeDB | Q33E94. |
Gene expression databases | |
| ArrayExpress | Q33E94. |
| Bgee | Q33E94. |
| Genevestigator | Q33E94. |
Family and domain databases | |
| Gene3D | 1.10.10.10. 1 hit. |
| InterPro | IPR003150. DNA-bd_RFX. IPR011991. WHTH_DNA-bd_dom. [Graphical view] |
| Pfam | PF02257. RFX_DNA_binding. 1 hit. [Graphical view] |
| PROSITE | PS51526. RFX_DBD. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 5992. |
| NextBio | 23341. |
| SOURCE | Search... |
Entry information
| Entry name | RFX4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q33E94 Secondary accession number(s): A8K5Y0 Q9BXI0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
