Transcription factor RFX4

<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Specifies the position and type of each <span class="caps">DNA</span>-binding domain present within the protein.</p><p><a href='../manual/dna_bind' target='_top'>More...</a></p>DNA bindingi	44 – 126	83				Add BLAST
<p>Specifies the position and type of each <span class="caps">DNA</span>-binding domain present within the protein.</p><p><a href='../manual/dna_bind' target='_top'>More...</a></p>DNA bindingi	61 – 136	76	RFX-type winged-helixPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More…</a></p> Manual assertion according to rulesi PROSITE-ProRule:PRU00858			Add BLAST

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• chromatin binding Source: Ensembl
• RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 16893423

• transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: NTNU_SB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 16893423

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• cerebellar cortex morphogenesis Source: Ensembl
• cilium assembly Source: GO_Central
• dorsal spinal cord development Source: Ensembl
• midbrain development Source: Ensembl
• negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning Source: GO_Central
• positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 16893423

• regulation of protein processing Source: Ensembl
• telencephalon development Source: Ensembl

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Molecular functionⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Biological processⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Ligandⁱ

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componentⁱ

• nucleus Source: GO_Central

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

Organism-specific databases

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini	1 – 735	735	Transcription factor RFX4		PRO_0000314237	Add BLAST

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’.<br />Examples: <a href="/uniprot/P92958#expression"><span class="caps">P92958</span></a>, <a href="/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="/uniprot/O14734#expression"><span class="caps">O14734</span></a></p><p><a href='../manual/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>Provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="/help/function_section">‘Function’</a> section).</p><p><a href='../manual/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>Provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.</p><p><a href='../manual/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

Protein-protein interaction databases

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Region

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes a region of interest that cannot be described in other subsections.</p><p><a href='../manual/region' target='_top'>More...</a></p>Regioni	315 – 487	173	Necessary for dimerization			Add BLAST

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (4)ⁱ

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry describes 4<p>Lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.</p><p><a href='../manual/alternative_products' target='_top'>More...</a></p> isoformsⁱ produced by alternative splicing. AlignAdd to basketAdded to basket

        10         20         30         40         50
MHCGLLEEPD MDSTESWIER CLNESENKRY SSHTSLGNVS NDENEEKENN 
        60         70         80         90        100
RASKPHSTPA TLQWLEENYE IAEGVCIPRS ALYMHYLDFC EKNDTQPVNA 
       110        120        130        140        150
ASFGKIIRQQ FPQLTTRRLG TRGQSKYHYY GIAVKESSQY YDVMYSKKGA 
       160        170        180        190        200
AWVSETGKKE VSKQTVAYSP RSKLGTLLPE FPNVKDLNLP ASLPEEKVST 
       210        220        230        240        250
FIMMYRTHCQ RILDTVIRAN FDEVQSFLLH FWQGMPPHML PVLGSSTVVN 
       260        270        280        290        300
IVGVCDSILY KAISGVLMPT VLQALPDSLT QVIRKFAKQL DEWLKVALHD 
       310        320        330        340        350
LPENLRNIKF ELSRRFSQIL RRQTSLNHLC QASRTVIHSA DITFQMLEDW 
       360        370        380        390        400
RNVDLNSITK QTLYTMEDSR DEHRKLITQL YQEFDHLLEE QSPIESYIEW 
       410        420        430        440        450
LDTMVDRCVV KVAAKRQGSL KKVAQQFLLM WSCFGTRVIR DMTLHSAPSF 
       460        470        480        490        500
GSFHLIHLMF DDYVLYLLES LHCQERANEL MRAMKGEGST AEVREEIILT 
       510        520        530        540        550
EAAAPTPSPV PSFSPAKSAT SVEVPPPSSP VSNPSPEYTG LSTTGAMQSY 
       560        570        580        590        600
TWSLTYTVTT AAGSPAENSQ QLPCMRNTHV PSSSVTHRIP VYPHREEHGY 
       610        620        630        640        650
TGSYNYGSYG NQHPHPMQSQ YPALPHDTAI SGPLHYAPYH RSSAQYPFNS 
       660        670        680        690        700
PTSRMEPCLM SSTPRLHPTP VTPRWPEVPS ANTCYTSPSV HSARYGNSSD 
       710        720        730 
MYTPLTTRRN SEYEHMQHFP GFAYINGEAS TGWAK            

        10         20         30         40         50
MIKRRAHPGA GGDRTRPRRR RSTESWIERC LNESENKRYS SHTSLGNVSN 
        60         70         80         90        100
DENEEKENNR ASKPHSTPAT LQWLEENYEI AEGVCIPRSA LYMHYLDFCE 
       110        120        130        140        150
KNDTQPVNAA SFGKIIRQQF PQLTTRRLGT RGQSKYHYYG IAVKESSQYY 
       160        170        180        190        200
DVMYSKKGAA WVSETGKKEV SKQTVAYSPR SKLGTLLPEF PNVKDLNLPA 
       210        220        230        240        250
SLPEEKVSTF IMMYRTHCQR ILDTVIRANF DEVQSFLLHF WQGMPPHMLP 
       260        270        280        290        300
VLGSSTVVNI VGVCDSILYK AISGVLMPTV LQALPDSLTQ VIRKFAKQLD 
       310        320        330        340        350
EWLKVALHDL PENLRNIKFE LSRRFSQILR RQTSLNHLCQ ASRTVIHSAD 
       360        370        380        390        400
ITFQMLEDWR NVDLNSITKQ TLYTMEDSRD EHRKLITQLY QEFDHLLEEQ 
       410        420        430        440        450
SPIESYIEWL DTMVDRCVVK VAAKRQGSLK KVAQQFLLMW SCFGTRVIRD 
       460        470        480        490        500
MTLHSAPSFG SFHLIHLMFD DYVLYLLESL HCQERANELM RAMKGEGSTA 
       510        520        530        540        550
EVREEIILTE AAAPTPSPVP SFSPAKSATS VEVPPPSSPV SNPSPEYTGL 
       560        570        580        590        600
STTGAMQSYT WSLTYTVTTA AGSPAENSQQ LPCMRNTHVP SSSVTHRIPV 
       610        620        630        640        650
YPHREEHGYT GSYNYGSYGN QHPHPMQSQY PALPHDTAIS GPLHYAPYHR 
       660        670        680        690        700
SSAQYPFNSP TSRMEPCLMS STPRLHPTPV TPRWPEVPSA NTCYTSPSVH 
       710        720        730        740 
SARYGNSSDM YTPLTTRRNS EYEHMQHFPG FAYINGEAST GWAK 

        10         20         30         40         50
MNWAAFGGSE FFIPEGIQID SRCPLSRNIT EWYHYYGIAV KESSQYYDVM 
        60         70         80         90        100
YSKKGAAWVS ETGKKEVSKQ TVAYSPRSKL GTLLPEFPNV KDLNLPASLP 
       110        120        130        140        150
EEKVSTFIMM YRTHCQRILD TVIRANFDEV QSFLLHFWQG MPPHMLPVLG 
       160        170        180        190        200
SSTVVNIVGV CDSILYKAIS GVLMPTVLQA LPDSLTQVIR KFAKQLDEWL 
       210        220        230        240        250
KVALHDLPEN LRNIKFELSR RFSQILRRQT SLNHLCQASR TVIHSADITF 
       260        270        280        290        300
QMLEDWRNVD LNSITKQTLY TMEDSRDEHR KLITQLYQEF DHLLEEQSPI 
       310        320        330        340        350
ESYIEWLDTM VDRCVVKVAA KRQGSLKKVA QQFLLMWSCF GTRVIRDMTL 
       360        370        380        390        400
HSAPSFGSFH LIHLMFDDYV LYLLESLHCQ ERANELMRAM KGEGSTAEVR 
       410        420        430        440        450
EEIILTEAAA PTPSPVPSFS PAKSATSVEV PPPSSPVSNP SPEYTGLSTT 
       460        470        480        490        500
GAMQSYTWSL TYTVTTAAGS PAENSQQLPC MRNTHVPSSS VTHRIPVYPH 
       510        520        530        540        550
REEHGYTGSY NYGSYGNQHP HPMQSQYPAL PHDTAISGPL HYAPYHRSSA 
       560        570        580        590        600
QYPFNSPTSR MEPCLMSSTP RLHPTPVTPR WPEVPSANTC YTSPSVHSAR 
       610        620        630        640 
YGNSSDMYTP LTTRRNSEYE HMQHFPGFAY INGEASTGWA K 

        10         20         30         40         50
MIKRRAHPGA GGDRTRPRRR RSTESWIERC LNESENKRYS SHTSLGNVSN 
        60         70         80         90        100
DENEEKENNR ASKPHSTPAT LQWLEENYEI AEGVCIPRSA LYMHYLDFCE 
       110        120        130        140        150
KNDTQPVNAA SFGKIIRQQF PQLTTRRLGT RGQSKYHYYG IAVKESSQYY 
       160        170        180        190        200
DVMYSKKGAA WVSETGKKEV SKQTVAYSPR SKLGTLLPEF PNVKDLNLPA 
       210        220        230        240        250
SLPEEKVSTF IMMYRTHCQR ILDTVIRANF DEVQSFLLHF WQGMPPHMLP 
       260        270        280        290        300
VLGSSTVVNI VGVCDSILYK AISGVLMPTV LQALPDSLTQ VIRKFAKQLD 
       310        320        330        340        350
EWLKVALHDL PENLRNIKFE LSRRFSQILR RQTSLNHLCQ ASRTVIHSAD 
       360        370        380        390        400
ITFQMLEDWR NVDLNSITKQ TLYTMEDSRD EHRKLITQLY QEFDHLLEEQ 
       410        420        430        440        450
SPIESYIEWL DTMVDRCVVK VAAKRQGSLK KVAQQFLLMW SCFGTRVIRD 
       460        470        480        490        500
MTLHSAPSFG SFHLIHLMFD DYVLYLLESL HCQERANELM RAMKGEGSTA 
       510        520        530        540        550
EVREEIILTE AAAPTPSPVP SFSPAKSATS VEVPPPSSPV SNPSPEYTGL 
       560 
STTGNGKSFK NFG                                  

<p>Reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.</p><p><a href='../manual/sequence_caution' target='_top'>More...</a></p>Sequence cautionⁱ

Experimental Info

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	417 – 417	1	Q → R in AAK17191 (PubMed:16193984).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	423 – 423	1	V → E in BAC11288 (PubMed:14702039).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	477 – 477	1	A → T in AAH28582 (PubMed:15489334).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	522 – 522	1	V → M in AAM52484 (PubMed:12925582).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	549 – 549	1	S → A in BAE48231 (PubMed:16271074).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	549 – 549	1	S → A in BAE48237 (PubMed:16271074).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	549 – 549	1	S → A in BAE48238 (PubMed:16271074).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	549 – 549	1	S → A in AAK17191 (PubMed:16193984).Curated

Natural variant

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	687 – 687	1	S → N.2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.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. Ref.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.		VAR_037873
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	698 – 698	1	S → A. Corresponds to variant rs17038766 [ dbSNP | Ensembl ].		VAR_057152

Alternative sequence

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	1 – 94	94	Missing in isoform 3. 3 Publications <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More…</a></p> Manual assertion based on opinion ini Ref.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. Ref.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. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Ref.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).		VSP_030242	Add BLAST
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	1 – 12	12	MHCGL…EPDMD → MIKRRAHPGAGGDRTRPRRR R in isoform 2 and isoform 4. 2 Publications <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More…</a></p> Manual assertion based on opinion ini Ref.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. Ref.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.		VSP_030243	Add BLAST
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	95 – 126	32	TQPVN…RGQSK → MNWAAFGGSEFFIPEGIQID SRCPLSRNITEW in isoform 3. 3 Publications <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More…</a></p> Manual assertion based on opinion ini Ref.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. Ref.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. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Ref.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).		VSP_030244	Add BLAST
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	546 – 554	9	AMQSYTWSL → NGKSFKNFG in isoform 4. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More…</a></p> Manual assertion based on opinion ini Ref.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.		VSP_030245
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	555 – 735	181	Missing in isoform 4. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More…</a></p> Manual assertion based on opinion ini Ref.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.		VSP_030246	Add BLAST

Sequence databases

Genome annotation databases

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityⁱ

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termⁱ

Documents

1. Human chromosome 12
   Human chromosome 12: entries, gene names and cross-references to MIM
2. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
3. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. SIMILARITY comments
   Index of protein domains and families

<p>Provides links to the UniProt Reference Clusters (<a href="/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.</p><p><a href='../manual/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ