EVX1_HUMAN
ID EVX1_HUMAN Reviewed; 407 AA.
AC P49640; A4D199; B4DQJ0;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1996, sequence version 1.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Homeobox even-skipped homolog protein 1;
DE AltName: Full=EVX-1;
GN Name=EVX1;
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 [GENOMIC DNA / MRNA] (ISOFORM 1).
RX PubMed=1684419; DOI=10.1093/nar/19.23.6541;
RA Faiella A., D'Esposito M., Rambaldi M., Acampora D., Balsofiore S.,
RA Stornaiuolo A., Mallamaci M., Migliaccio E., Gulisano M.;
RT "Isolation and mapping of EVX1, a human homeobox gene homologous to even-
RT skipped, localized at the 5' end of HOX1 locus on chromosome 7.";
RL Nucleic Acids Res. 19:6541-6545(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=7499236; DOI=10.1074/jbc.270.46.27695;
RA Briata P., van de Werken R., Airoldi I., Ilengo C., di Blas E.,
RA Boncinelli E., Corte G.;
RT "Transcriptional repression by the human homeobox protein EVX1 in
RT transfected mammalian cells.";
RL J. Biol. Chem. 270:27695-27701(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
CC -!- FUNCTION: May play a role in the specification of neuronal cell types.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P49640-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P49640-2; Sequence=VSP_056502;
CC -!- SIMILARITY: Belongs to the even-skipped homeobox family. {ECO:0000305}.
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DR EMBL; X60655; CAA43062.1; -; mRNA.
DR EMBL; U68782; AAB07598.1; -; Genomic_DNA.
DR EMBL; U68781; AAB07598.1; JOINED; Genomic_DNA.
DR EMBL; AK298822; BAG60952.1; -; mRNA.
DR EMBL; AC004080; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471073; EAW93892.1; -; Genomic_DNA.
DR EMBL; CH236948; EAL24216.1; -; Genomic_DNA.
DR CCDS; CCDS5413.1; -. [P49640-1]
DR PIR; S22586; S22586.
DR RefSeq; NP_001291448.1; NM_001304519.1. [P49640-2]
DR RefSeq; NP_001291449.1; NM_001304520.1. [P49640-2]
DR RefSeq; NP_001980.1; NM_001989.4. [P49640-1]
DR AlphaFoldDB; P49640; -.
DR BioGRID; 108429; 1.
DR STRING; 9606.ENSP00000419266; -.
DR BioMuta; EVX1; -.
DR DMDM; 1352398; -.
DR jPOST; P49640; -.
DR MassIVE; P49640; -.
DR PaxDb; P49640; -.
DR PeptideAtlas; P49640; -.
DR PRIDE; P49640; -.
DR ProteomicsDB; 4881; -.
DR ProteomicsDB; 56036; -. [P49640-1]
DR Antibodypedia; 12413; 174 antibodies from 21 providers.
DR DNASU; 2128; -.
DR Ensembl; ENST00000496902.7; ENSP00000419266.3; ENSG00000106038.13. [P49640-1]
DR GeneID; 2128; -.
DR KEGG; hsa:2128; -.
DR MANE-Select; ENST00000496902.7; ENSP00000419266.3; NM_001989.5; NP_001980.1.
DR UCSC; uc003szd.2; human. [P49640-1]
DR CTD; 2128; -.
DR DisGeNET; 2128; -.
DR GeneCards; EVX1; -.
DR HGNC; HGNC:3506; EVX1.
DR HPA; ENSG00000106038; Tissue enhanced (adrenal gland, prostate, seminal vesicle, urinary bladder, vagina).
DR MIM; 142996; gene.
DR neXtProt; NX_P49640; -.
DR OpenTargets; ENSG00000106038; -.
DR PharmGKB; PA27919; -.
DR VEuPathDB; HostDB:ENSG00000106038; -.
DR eggNOG; KOG0844; Eukaryota.
DR GeneTree; ENSGT00940000159854; -.
DR HOGENOM; CLU_045075_1_0_1; -.
DR InParanoid; P49640; -.
DR OMA; CATGSAE; -.
DR OrthoDB; 836887at2759; -.
DR PhylomeDB; P49640; -.
DR TreeFam; TF315938; -.
DR PathwayCommons; P49640; -.
DR SignaLink; P49640; -.
DR SIGNOR; P49640; -.
DR BioGRID-ORCS; 2128; 15 hits in 1092 CRISPR screens.
DR ChiTaRS; EVX1; human.
DR GenomeRNAi; 2128; -.
DR Pharos; P49640; Tbio.
DR PRO; PR:P49640; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; P49640; protein.
DR Bgee; ENSG00000106038; Expressed in vena cava and 113 other tissues.
DR ExpressionAtlas; P49640; baseline and differential.
DR Genevisible; P49640; HS.
DR GO; GO:0030424; C:axon; IEA:Ensembl.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
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:0009792; P:embryo development ending in birth or egg hatching; IEA:Ensembl.
DR GO; GO:1904936; P:interneuron migration; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0097377; P:spinal cord interneuron axon guidance; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
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 Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Reference proteome.
FT CHAIN 1..407
FT /note="Homeobox even-skipped homolog protein 1"
FT /id="PRO_0000048870"
FT DNA_BIND 183..242
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 29..120
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 137..179
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 102..116
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..182
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056502"
SQ SEQUENCE 407 AA; 42440 MW; 75D696ECA1431D5A CRC64;
MESRKDMVVF LDGGQLGTLV GKRVSNLSEA VGSPLPEPPE KMVPRGCLSP RAVPPATRER
GGGGPEEEPV DGLAGSAAGP GAEPQVAGAA MLGPGPPAPS VDSLSGQGQP SSSDTESDFY
EEIEVSCTPD CATGNAEYQH SKGSGSEALV GSPNGGSETP KSNGGSGGGG SQGTLACSAS
DQMRRYRTAF TREQIARLEK EFYRENYVSR PRRCELAAAL NLPETTIKVW FQNRRMKDKR
QRLAMTWPHP ADPAFYTYMM SHAAAAGGLP YPFPSHLPLP YYSPVGLGAA SAASAAASPF
SGSLRPLDTF RVLSQPYPRP ELLCAFRHPP LYPGPAHGLG ASAGGPCSCL ACHSGPANGL
APRAAAASDF TCASTSRSDS FLTFAPSVLS KASSVALDQR EEVPLTR