ID   HXD1_HUMAN              Reviewed;         328 AA.
AC   Q9GZZ0; B2RAB4;
DT   26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   24-JAN-2024, entry version 163.
DE   RecName: Full=Homeobox protein Hox-D1;
DE   AltName: Full=Homeobox protein Hox-GG;
GN   Name=HOXD1; Synonyms=HOX4, HOX4G;
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].
RX   PubMed=11455954; DOI=10.1023/a:1011048931477;
RA   Appukuttan B., Sood R., Ott S., Makalowska I., Patel R.J., Wang X.,
RA   Robbins C.M., Brownstein M.J., Stout J.T.;
RT   "Isolation and characterization of the human homeobox gene HOX D1.";
RL   Mol. Biol. Rep. 27:195-201(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Oocyte;
RA   Adjaye J.;
RT   "Cloning and expression analysis of human HOXD1; a maternally-derived
RT   homeobox transcription factor abundant in unfertilized human oocytes.";
RL   Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Caudate nucleus;
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].
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.
CC   -!- FUNCTION: Sequence-specific transcription factor which is part of a
CC       developmental regulatory system that provides cells with specific
CC       positional identities on the anterior-posterior axis. Acts on the
CC       anterior body structures.
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- SIMILARITY: Belongs to the Antp homeobox family. Labial subfamily.
CC       {ECO:0000305}.
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DR   EMBL; AF202118; AAG29939.1; -; Genomic_DNA.
DR   EMBL; AF241528; AAG44444.1; -; mRNA.
DR   EMBL; AK314120; BAG36811.1; -; mRNA.
DR   EMBL; CH471058; EAX11080.1; -; Genomic_DNA.
DR   CCDS; CCDS2271.1; -.
DR   RefSeq; NP_078777.1; NM_024501.2.
DR   AlphaFoldDB; Q9GZZ0; -.
DR   SMR; Q9GZZ0; -.
DR   BioGRID; 109471; 8.
DR   IntAct; Q9GZZ0; 1.
DR   STRING; 9606.ENSP00000328598; -.
DR   iPTMnet; Q9GZZ0; -.
DR   PhosphoSitePlus; Q9GZZ0; -.
DR   BioMuta; HOXD1; -.
DR   DMDM; 17378648; -.
DR   MassIVE; Q9GZZ0; -.
DR   PaxDb; 9606-ENSP00000328598; -.
DR   PeptideAtlas; Q9GZZ0; -.
DR   ProteomicsDB; 80181; -.
DR   Antibodypedia; 33916; 202 antibodies from 21 providers.
DR   DNASU; 3231; -.
DR   Ensembl; ENST00000331462.6; ENSP00000328598.4; ENSG00000128645.15.
DR   GeneID; 3231; -.
DR   KEGG; hsa:3231; -.
DR   MANE-Select; ENST00000331462.6; ENSP00000328598.4; NM_024501.3; NP_078777.1.
DR   UCSC; uc002ukv.5; human.
DR   AGR; HGNC:5132; -.
DR   CTD; 3231; -.
DR   DisGeNET; 3231; -.
DR   GeneCards; HOXD1; -.
DR   HGNC; HGNC:5132; HOXD1.
DR   HPA; ENSG00000128645; Tissue enhanced (brain, epididymis).
DR   MIM; 142987; gene.
DR   neXtProt; NX_Q9GZZ0; -.
DR   OpenTargets; ENSG00000128645; -.
DR   PharmGKB; PA29406; -.
DR   VEuPathDB; HostDB:ENSG00000128645; -.
DR   eggNOG; KOG0489; Eukaryota.
DR   GeneTree; ENSGT00940000161892; -.
DR   HOGENOM; CLU_058839_0_0_1; -.
DR   InParanoid; Q9GZZ0; -.
DR   OMA; GPAYDFP; -.
DR   OrthoDB; 728401at2759; -.
DR   PhylomeDB; Q9GZZ0; -.
DR   TreeFam; TF317730; -.
DR   PathwayCommons; Q9GZZ0; -.
DR   Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
DR   SignaLink; Q9GZZ0; -.
DR   SIGNOR; Q9GZZ0; -.
DR   BioGRID-ORCS; 3231; 14 hits in 1175 CRISPR screens.
DR   ChiTaRS; HOXD1; human.
DR   GeneWiki; HOXD1; -.
DR   GenomeRNAi; 3231; -.
DR   Pharos; Q9GZZ0; Tbio.
DR   PRO; PR:Q9GZZ0; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; Q9GZZ0; Protein.
DR   Bgee; ENSG00000128645; Expressed in corpus epididymis and 130 other cell types or tissues.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
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:0048706; P:embryonic skeletal system development; IEA:Ensembl.
DR   GO; GO:0030182; P:neuron differentiation; IEA:Ensembl.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0019233; P:sensory perception of pain; IEA:Ensembl.
DR   CDD; cd00086; homeodomain; 1.
DR   Gene3D; 1.10.10.60; Homeodomain-like; 1.
DR   InterPro; IPR009057; Homeobox-like_sf.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR020479; Homeobox_metazoa.
DR   InterPro; IPR046327; HXA1/B1/D1.
DR   PANTHER; PTHR45946:SF1; HOMEOBOX PROTEIN HOX-D1; 1.
DR   PANTHER; PTHR45946; HOMEOBOX PROTEIN ROUGH-RELATED; 1.
DR   Pfam; PF00046; Homeodomain; 1.
DR   PRINTS; PR00024; HOMEOBOX.
DR   SMART; SM00389; HOX; 1.
DR   SUPFAM; SSF46689; Homeodomain-like; 1.
DR   PROSITE; PS00027; HOMEOBOX_1; 1.
DR   PROSITE; PS50071; HOMEOBOX_2; 1.
DR   Genevisible; Q9GZZ0; HS.
PE   2: Evidence at transcript level;
KW   Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW   Transcription; Transcription regulation.
FT   CHAIN           1..328
FT                   /note="Homeobox protein Hox-D1"
FT                   /id="PRO_0000200201"
FT   DNA_BIND        229..288
FT                   /note="Homeobox"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT   REGION          305..328
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOTIF           204..209
FT                   /note="Antp-type hexapeptide"
FT   VARIANT         296
FT                   /note="A -> T (in dbSNP:rs6710142)"
FT                   /id="VAR_034003"
SQ   SEQUENCE   328 AA;  34093 MW;  1B9EBBF4E2DA0301 CRC64;
     MSSYLEYVSC SSSGGVGGDV LSLAPKFCRS DARPVALQPA FPLGNGDGAF VSCLPLAAAR
     PSPSPPAAPA RPSVPPPAAP QYAQCTLEGA YEPGAAPAAA AGGADYGFLG SGPAYDFPGV
     LGRAADDGGS HVHYATSAVF SGGGSFLLSG QVDYAAFGEP GPFPACLKAS ADGHPGAFQT
     ASPAPGTYPK SVSPASGLPA AFSTFEWMKV KRNASKKGKL AEYGAASPSS AIRTNFSTKQ
     LTELEKEFHF NKYLTRARRI EIANCLHLND TQVKIWFQNR RMKQKKRERE GLLATAIPVA
     PLQLPLSGTT PTKFIKNPGS PSQSQEPS
//