HMX3_HUMAN
ID HMX3_HUMAN Reviewed; 357 AA.
AC A6NHT5; A8MU06;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Homeobox protein HMX3;
DE AltName: Full=Homeobox protein H6 family member 3;
DE AltName: Full=Homeobox protein Nkx-5.1;
GN Name=HMX3; Synonyms=NKX-5.1, NKX5-1;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-153 AND SER-180, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Transcription factor involved in specification of neuronal
CC cell types and which is required for inner ear and hypothalamus
CC development. Binds to the 5'-CAAGTG-3' core sequence. Controls
CC semicircular canal formation in the inner ear. Also required for
CC hypothalamic/pituitary axis of the CNS (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- SIMILARITY: Belongs to the HMX homeobox family. {ECO:0000305}.
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DR EMBL; AC012391; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49289.1; -; Genomic_DNA.
DR CCDS; CCDS41575.1; -.
DR RefSeq; NP_001099044.1; NM_001105574.1.
DR AlphaFoldDB; A6NHT5; -.
DR SMR; A6NHT5; -.
DR BioGRID; 131098; 4.
DR STRING; 9606.ENSP00000350549; -.
DR iPTMnet; A6NHT5; -.
DR PhosphoSitePlus; A6NHT5; -.
DR BioMuta; HMX3; -.
DR EPD; A6NHT5; -.
DR jPOST; A6NHT5; -.
DR MassIVE; A6NHT5; -.
DR MaxQB; A6NHT5; -.
DR PaxDb; A6NHT5; -.
DR PeptideAtlas; A6NHT5; -.
DR PRIDE; A6NHT5; -.
DR ProteomicsDB; 1225; -.
DR Antibodypedia; 32340; 91 antibodies from 18 providers.
DR DNASU; 340784; -.
DR Ensembl; ENST00000357878.7; ENSP00000350549.4; ENSG00000188620.11.
DR GeneID; 340784; -.
DR KEGG; hsa:340784; -.
DR MANE-Select; ENST00000357878.7; ENSP00000350549.4; NM_001105574.2; NP_001099044.1.
DR UCSC; uc010quc.3; human.
DR CTD; 340784; -.
DR DisGeNET; 340784; -.
DR GeneCards; HMX3; -.
DR HGNC; HGNC:5019; HMX3.
DR HPA; ENSG00000188620; Tissue enriched (brain).
DR MIM; 613380; gene.
DR neXtProt; NX_A6NHT5; -.
DR OpenTargets; ENSG00000188620; -.
DR PharmGKB; PA29346; -.
DR VEuPathDB; HostDB:ENSG00000188620; -.
DR eggNOG; KOG0485; Eukaryota.
DR GeneTree; ENSGT00940000158286; -.
DR HOGENOM; CLU_064096_0_0_1; -.
DR InParanoid; A6NHT5; -.
DR OMA; CAPAKDS; -.
DR OrthoDB; 1313583at2759; -.
DR PhylomeDB; A6NHT5; -.
DR TreeFam; TF320562; -.
DR PathwayCommons; A6NHT5; -.
DR BioGRID-ORCS; 340784; 11 hits in 1098 CRISPR screens.
DR GenomeRNAi; 340784; -.
DR Pharos; A6NHT5; Tbio.
DR PRO; PR:A6NHT5; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; A6NHT5; protein.
DR Bgee; ENSG00000188620; Expressed in mucosa of transverse colon and 41 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:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0007420; P:brain development; IEA:Ensembl.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007566; P:embryo implantation; IEA:Ensembl.
DR GO; GO:0042472; P:inner ear morphogenesis; IEA:Ensembl.
DR GO; GO:0060135; P:maternal process involved in female pregnancy; IEA:Ensembl.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
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 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 1: Evidence at protein level;
KW Developmental protein; Differentiation; DNA-binding; Homeobox;
KW Neurogenesis; Nucleus; Phosphoprotein; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..357
FT /note="Homeobox protein HMX3"
FT /id="PRO_0000341382"
FT DNA_BIND 227..286
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..58
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 129..229
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 13..29
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 154..190
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 153
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 180
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
SQ SEQUENCE 357 AA; 37825 MW; 93C6A57D7924E0DA CRC64;
MPEPGPDAAG TASAQPQPPP PPPPAPKESP FSIKNLLNGD HHRPPPKPQP PPRTLFAPAS
AAAAAAAAAA AAAKGALEGA AGFALSQVGD LAFPRFEIPA QRFALPAHYL ERSPAWWYPY
TLTPAGGHLP RPEASEKALL RDSSPASGTD RDSPEPLLKA DPDHKELDSK SPDEIILEES
DSEESKKEGE AAPGAAGASV GAAAATPGAE DWKKGAESPE KKPACRKKKT RTVFSRSQVF
QLESTFDMKR YLSSSERAGL AASLHLTETQ VKIWFQNRRN KWKRQLAAEL EAANLSHAAA
QRIVRVPILY HENSAAEGAA AAAAGAPVPV SQPLLTFPHP VYYSHPVVSS VPLLRPV
