ARGFX_HUMAN
ID ARGFX_HUMAN Reviewed; 315 AA.
AC A6NJG6;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Arginine-fifty homeobox {ECO:0000305};
GN Name=ARGFX {ECO:0000312|HGNC:HGNC:30146};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=27412763; DOI=10.1038/srep28995;
RA Madissoon E., Jouhilahti E.M., Vesterlund L., Toehoenen V., Krjutskov K.,
RA Petropoulos S., Einarsdottir E., Linnarsson S., Lanner F., Maansson R.,
RA Hovatta O., Buerglin T.R., Katayama S., Kere J.;
RT "Characterization and target genes of nine human PRD-like homeobox domain
RT genes expressed exclusively in early embryos.";
RL Sci. Rep. 6:28995-28995(2016).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=17005330; DOI=10.1016/j.gene.2006.07.034;
RA Booth H.A., Holland P.W.H.;
RT "Annotation, nomenclature and evolution of four novel homeobox genes
RT expressed in the human germ line.";
RL Gene 387:7-14(2007).
CC -!- FUNCTION: Transcription factor that acts as activator.
CC {ECO:0000269|PubMed:27412763}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- TISSUE SPECIFICITY: Expressed at low level in testis and
CC undifferentiated embryonic stem cells. {ECO:0000269|PubMed:17005330}.
CC -!- DEVELOPMENTAL STAGE: Expressed in single blastomeres from 8-cell stage
CC embryos. {ECO:0000269|PubMed:27412763}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
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DR EMBL; LN901400; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC069239; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS33834.1; -.
DR RefSeq; NP_001012677.1; NM_001012659.1.
DR AlphaFoldDB; A6NJG6; -.
DR SMR; A6NJG6; -.
DR STRING; 9606.ENSP00000335578; -.
DR iPTMnet; A6NJG6; -.
DR PhosphoSitePlus; A6NJG6; -.
DR BioMuta; ARGFX; -.
DR EPD; A6NJG6; -.
DR MassIVE; A6NJG6; -.
DR PaxDb; A6NJG6; -.
DR PRIDE; A6NJG6; -.
DR TopDownProteomics; A6NJG6; -.
DR Antibodypedia; 32829; 106 antibodies from 18 providers.
DR DNASU; 503582; -.
DR Ensembl; ENST00000334384.5; ENSP00000335578.3; ENSG00000186103.5.
DR Ensembl; ENST00000651603.1; ENSP00000498601.1; ENSG00000186103.5.
DR GeneID; 503582; -.
DR KEGG; hsa:503582; -.
DR MANE-Select; ENST00000334384.5; ENSP00000335578.3; NM_001012659.2; NP_001012677.1.
DR UCSC; uc062myc.1; human.
DR CTD; 503582; -.
DR GeneCards; ARGFX; -.
DR HGNC; HGNC:30146; ARGFX.
DR HPA; ENSG00000186103; Tissue enhanced (brain).
DR MIM; 611164; gene.
DR neXtProt; NX_A6NJG6; -.
DR OpenTargets; ENSG00000186103; -.
DR PharmGKB; PA142672588; -.
DR VEuPathDB; HostDB:ENSG00000186103; -.
DR eggNOG; KOG2251; Eukaryota.
DR GeneTree; ENSGT00730000111572; -.
DR HOGENOM; CLU_077853_0_0_1; -.
DR InParanoid; A6NJG6; -.
DR OMA; NRMAPGN; -.
DR OrthoDB; 1020170at2759; -.
DR PhylomeDB; A6NJG6; -.
DR TreeFam; TF351179; -.
DR PathwayCommons; A6NJG6; -.
DR SignaLink; A6NJG6; -.
DR BioGRID-ORCS; 503582; 280 hits in 1057 CRISPR screens.
DR GenomeRNAi; 503582; -.
DR Pharos; A6NJG6; Tdark.
DR PRO; PR:A6NJG6; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A6NJG6; protein.
DR Bgee; ENSG00000186103; Expressed in mucosa of large intestine and 2 other tissues.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR Pfam; PF00046; Homeodomain; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 2: Evidence at transcript level;
KW Activator; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..315
FT /note="Arginine-fifty homeobox"
FT /id="PRO_0000311325"
FT DNA_BIND 78..137
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 135..163
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 137..163
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 145
FT /note="R -> Q (in dbSNP:rs9813391)"
FT /id="VAR_037226"
FT CONFLICT 30
FT /note="D -> G (in Ref. 1; LN901400)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 315 AA; 35617 MW; D3EDBA45BAB43352 CRC64;
MRNRMAPENP QPDPFINRNY SNMKVIPPQD PASPSFTLLS KLECSGTVSA YCSLNLPGST
DPPTSASRVA ATTAIRRRHK ERTSFTHQQY EELEALFSQT MFPDRNLQEK LALRLDLPES
TVKVWFRNRR FKLKKQQQQQ SAKQRNQILP SKKNVPTSPR TSPSPYAFSP VISDFYSSLP
SQPLDPSNWA WNSTFTESST SDFQMQDTQW ERLVASVPAL YSDAYDIFQI IELYNLPDEN
EISSSSFHCL YQYLSPTKYQ VGGQGSSLSI FAGPAVGLSP AQTWPNMTSQ AFEAYSLTDS
LEFQKTSNMV DLGFL