UNC4_HUMAN
ID UNC4_HUMAN Reviewed; 531 AA.
AC A6NJT0; A4D221;
DT 20-MAY-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 unc-4 homolog;
DE AltName: Full=Homeobox protein Uncx4.1;
GN Name=UNCX; Synonyms=UNCX4.1;
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=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 [2]
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: Transcription factor involved in somitogenesis and
CC neurogenesis. Required for the maintenance and differentiation of
CC particular elements of the axial skeleton. May act upstream of PAX9.
CC Plays a role in controlling the development of connections of
CC hypothalamic neurons to pituitary elements, allowing central neurons to
CC reach the peripheral blood circulation and to deliver hormones for
CC control of peripheral functions (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. Unc-4 subfamily.
CC {ECO:0000305}.
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DR EMBL; AC073094; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236953; EAL23940.1; ALT_SEQ; Genomic_DNA.
DR CCDS; CCDS34583.1; -.
DR RefSeq; NP_001073930.1; NM_001080461.1.
DR AlphaFoldDB; A6NJT0; -.
DR BioGRID; 131024; 1.
DR STRING; 9606.ENSP00000314480; -.
DR iPTMnet; A6NJT0; -.
DR PhosphoSitePlus; A6NJT0; -.
DR BioMuta; UNCX; -.
DR EPD; A6NJT0; -.
DR MassIVE; A6NJT0; -.
DR MaxQB; A6NJT0; -.
DR PaxDb; A6NJT0; -.
DR PeptideAtlas; A6NJT0; -.
DR PRIDE; A6NJT0; -.
DR ProteomicsDB; 1352; -.
DR Antibodypedia; 24186; 131 antibodies from 21 providers.
DR DNASU; 340260; -.
DR Ensembl; ENST00000316333.9; ENSP00000314480.8; ENSG00000164853.9.
DR GeneID; 340260; -.
DR KEGG; hsa:340260; -.
DR MANE-Select; ENST00000316333.9; ENSP00000314480.8; NM_001080461.3; NP_001073930.1.
DR UCSC; uc011jvw.3; human.
DR CTD; 340260; -.
DR DisGeNET; 340260; -.
DR GeneCards; UNCX; -.
DR HGNC; HGNC:33194; UNCX.
DR HPA; ENSG00000164853; Tissue enriched (brain).
DR neXtProt; NX_A6NJT0; -.
DR OpenTargets; ENSG00000164853; -.
DR PharmGKB; PA162408642; -.
DR VEuPathDB; HostDB:ENSG00000164853; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000161420; -.
DR HOGENOM; CLU_041996_0_0_1; -.
DR InParanoid; A6NJT0; -.
DR OMA; HHNHISN; -.
DR OrthoDB; 1401774at2759; -.
DR PhylomeDB; A6NJT0; -.
DR TreeFam; TF315554; -.
DR PathwayCommons; A6NJT0; -.
DR BioGRID-ORCS; 340260; 15 hits in 1085 CRISPR screens.
DR GenomeRNAi; 340260; -.
DR Pharos; A6NJT0; Tbio.
DR PRO; PR:A6NJT0; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; A6NJT0; protein.
DR Bgee; ENSG00000164853; Expressed in cerebellum and 19 other tissues.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0001502; P:cartilage condensation; IEA:Ensembl.
DR GO; GO:0035726; P:common myeloid progenitor cell proliferation; IEA:Ensembl.
DR GO; GO:0021516; P:dorsal spinal cord development; IEA:Ensembl.
DR GO; GO:0021889; P:olfactory bulb interneuron differentiation; IEA:Ensembl.
DR GO; GO:0007389; P:pattern specification process; IEA:Ensembl.
DR GO; GO:0045595; P:regulation of cell differentiation; IEA:Ensembl.
DR GO; GO:0010468; P:regulation of gene expression; 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 3: Inferred from homology;
KW Developmental protein; Differentiation; DNA-binding; Homeobox;
KW Neurogenesis; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..531
FT /note="Homeobox protein unc-4 homolog"
FT /id="PRO_0000334624"
FT DNA_BIND 105..164
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 87..107
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 161..312
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 324..344
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 401..531
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 91..106
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 188..203
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 406..420
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 482..507
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 531 AA; 53690 MW; F538F74E77D7F32E CRC64;
MMDGRLLEHP HAQFGGSLGG VVGFPYPLGH HHVYELAGHQ LQSAAAAASV PFSIDGLLGG
SCAAAASVVN PTPLLPAACG VGGDGQPFKL SDSGDPDKES PGCKRRRTRT NFTGWQLEEL
EKAFNESHYP DVFMREALAL RLDLVESRVQ VWFQNRRAKW RKKENTKKGP GRPAHNSHPT
TCSGEPMDPE EIARKELEKM EKKKRKHEKK LLKSQGRHLH SPGGLSLHSA PSSDSDSGGG
GLSPEPPEPP PPAAKGPGAH ASGAAGTAPA PPGEPPAPGT CDPAFYPSQR SGAGPQPRPG
RPADKDAASC GPGAAVAAVE RGAAGLPKAS PFSVESLLSD SPPRRKAASN AAAAAAAGLD
FAPGLPCAPR TLIGKGHFLL YPITQPLGFL VPQAALKGGA GLEPAPKDAP PAPAVPPAPP
AQASFGAFSG PGGAPDSAFA RRSPDAVASP GAPAPAPAPF RDLASAAATE GGGGDCADAG
TAGPAPPPPA PSPRPGPRPP SPAEEPATCG VPEPGAAAGP SPPEGEELDM D
