ID   HXC13_HUMAN             Reviewed;         330 AA.
AC   P31276; Q5BL02; Q96J32; Q9NR24; Q9NYD5;
DT   01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT   23-JAN-2002, sequence version 3.
DT   27-MAR-2024, entry version 207.
DE   RecName: Full=Homeobox protein Hox-C13;
DE   AltName: Full=Homeobox protein Hox-3G;
GN   Name=HOXC13; Synonyms=HOX3G;
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].
RX   PubMed=10835276; DOI=10.1006/jmbi.2000.3782;
RA   de Stanchina E., Gabellini D., Norio P., Giacca M., Peverali F.A., Riva S.,
RA   Falaschi A., Biamonti G.;
RT   "Selection of homeotic proteins for binding to a human DNA replication
RT   origin.";
RL   J. Mol. Biol. 299:667-680(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RA   Li S., Zhang B., Li X.;
RT   "A homeobox protein interacting with promoter region of p21WAF1/CIP1 gene
RT   is identical to HOX-C13 (HOX 3G).";
RL   Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA   Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA   Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA   Phelan M., Farmer A.;
RT   "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL   Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Eye;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 185-330.
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   [6]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 260-325.
RX   PubMed=2574852; DOI=10.1093/nar/17.24.10385;
RA   Acampora D., D'Esposito M., Faiella A., Pannese M., Migliaccio E.,
RA   Morelli F., Stornaiuolo A., Nigro V., Simeone A., Boncinelli E.;
RT   "The human HOX gene family.";
RL   Nucleic Acids Res. 17:10385-10402(1989).
RN   [7]
RP   INVOLVEMENT IN ECTD9.
RX   PubMed=23063621; DOI=10.1016/j.ajhg.2012.08.029;
RA   Lin Z., Chen Q., Shi L., Lee M., Giehl K.A., Tang Z., Wang H., Zhang J.,
RA   Yin J., Wu L., Xiao R., Liu X., Dai L., Zhu X., Li R., Betz R.C., Zhang X.,
RA   Yang Y.;
RT   "Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal
RT   dysplasia.";
RL   Am. J. Hum. Genet. 91:906-911(2012).
RN   [8]
RP   VARIANT ECTD9 ARG-271.
RX   PubMed=28297138; DOI=10.1111/pde.13074;
RA   Li X., Orseth M.L., Smith J.M., Brehm M.A., Agim N.G., Glass D.A. II;
RT   "A novel homozygous missense mutation in HOXC13 leads to autosomal
RT   recessive pure hair and nail ectodermal dysplasia.";
RL   Pediatr. Dermatol. 34:172-175(2017).
CC   -!- FUNCTION: Transcription factor which plays a role in hair follicle
CC       differentiation. Regulates FOXQ1 expression and that of other hair-
CC       specific genes (By similarity). {ECO:0000250}.
CC   -!- INTERACTION:
CC       P31276; P32519: ELF1; NbExp=3; IntAct=EBI-2293590, EBI-765526;
CC       P31276; O95644: NFATC1; NbExp=2; IntAct=EBI-2293590, EBI-6907210;
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- DISEASE: Ectodermal dysplasia 9, hair/nail type (ECTD9) [MIM:614931]: A
CC       form of ectodermal dysplasia, a heterogeneous group of disorders due to
CC       abnormal development of two or more ectodermal structures such as hair,
CC       teeth, nails and sweat glands, with or without any additional clinical
CC       sign. Each combination of clinical features represents a different type
CC       of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and
CC       nail dystrophy without non-ectodermal or other ectodermal
CC       manifestations. Hypotrichosis usually occurs after birth with varying
CC       degrees of severity, ranging from mild hair loss to complete atrichia,
CC       including the loss of scalp hair, beard, eyebrows, eyelashes, axillary
CC       hair, and pubic hair. Nail dystrophy affects all 20 digits by causing
CC       short fragile nails or spoon nails (koilonychia).
CC       {ECO:0000269|PubMed:23063621, ECO:0000269|PubMed:28297138}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- SIMILARITY: Belongs to the Abd-B homeobox family. {ECO:0000305}.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC       Haematology;
CC       URL="https://atlasgeneticsoncology.org/gene/473/HOXC13";
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DR   EMBL; AF255676; AAF67760.1; -; mRNA.
DR   EMBL; AF263466; AAF73439.1; -; mRNA.
DR   EMBL; BT009908; AAP88910.1; -; mRNA.
DR   EMBL; BC090850; AAH90850.1; -; mRNA.
DR   EMBL; AK024027; BAB14786.1; -; mRNA.
DR   CCDS; CCDS8865.1; -.
DR   PIR; S14934; S14934.
DR   RefSeq; NP_059106.2; NM_017410.2.
DR   AlphaFoldDB; P31276; -.
DR   SMR; P31276; -.
DR   BioGRID; 109469; 21.
DR   IntAct; P31276; 24.
DR   MINT; P31276; -.
DR   STRING; 9606.ENSP00000243056; -.
DR   iPTMnet; P31276; -.
DR   PhosphoSitePlus; P31276; -.
DR   BioMuta; HOXC13; -.
DR   DMDM; 20141539; -.
DR   EPD; P31276; -.
DR   MassIVE; P31276; -.
DR   MaxQB; P31276; -.
DR   PaxDb; 9606-ENSP00000243056; -.
DR   PeptideAtlas; P31276; -.
DR   ProteomicsDB; 54776; -.
DR   Antibodypedia; 27302; 140 antibodies from 27 providers.
DR   DNASU; 3229; -.
DR   Ensembl; ENST00000243056.5; ENSP00000243056.3; ENSG00000123364.5.
DR   GeneID; 3229; -.
DR   KEGG; hsa:3229; -.
DR   MANE-Select; ENST00000243056.5; ENSP00000243056.3; NM_017410.3; NP_059106.2.
DR   UCSC; uc001sei.4; human.
DR   AGR; HGNC:5125; -.
DR   CTD; 3229; -.
DR   DisGeNET; 3229; -.
DR   GeneCards; HOXC13; -.
DR   HGNC; HGNC:5125; HOXC13.
DR   HPA; ENSG00000123364; Tissue enriched (skin).
DR   MalaCards; HOXC13; -.
DR   MIM; 142976; gene.
DR   MIM; 614931; phenotype.
DR   neXtProt; NX_P31276; -.
DR   OpenTargets; ENSG00000123364; -.
DR   Orphanet; 69084; Pure hair and nail ectodermal dysplasia.
DR   PharmGKB; PA29400; -.
DR   VEuPathDB; HostDB:ENSG00000123364; -.
DR   eggNOG; KOG0487; Eukaryota.
DR   GeneTree; ENSGT00940000161087; -.
DR   HOGENOM; CLU_059940_0_0_1; -.
DR   InParanoid; P31276; -.
DR   OMA; TFMYVYE; -.
DR   OrthoDB; 728401at2759; -.
DR   PhylomeDB; P31276; -.
DR   TreeFam; TF330813; -.
DR   PathwayCommons; P31276; -.
DR   SignaLink; P31276; -.
DR   SIGNOR; P31276; -.
DR   BioGRID-ORCS; 3229; 28 hits in 1182 CRISPR screens.
DR   ChiTaRS; HOXC13; human.
DR   GeneWiki; HOXC13; -.
DR   GenomeRNAi; 3229; -.
DR   Pharos; P31276; Tbio.
DR   PRO; PR:P31276; -.
DR   Proteomes; UP000005640; Chromosome 12.
DR   RNAct; P31276; Protein.
DR   Bgee; ENSG00000123364; Expressed in hair follicle and 31 other cell types or tissues.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
DR   GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR   GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:ARUK-UCL.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0140297; F:DNA-binding transcription factor binding; IPI:ARUK-UCL.
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:0000976; F:transcription cis-regulatory region binding; IMP:ARUK-UCL.
DR   GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR   GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR   GO; GO:0001942; P:hair follicle development; IEA:Ensembl.
DR   GO; GO:0035878; P:nail development; IEA:Ensembl.
DR   GO; GO:0045893; P:positive regulation of DNA-templated transcription; IDA:ARUK-UCL.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0043587; P:tongue morphogenesis; 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; IPR022067; HoxA13_N.
DR   PANTHER; PTHR45804:SF5; HOMEOBOX PROTEIN HOX-C13; 1.
DR   PANTHER; PTHR45804; SEGMENTATION PROTEIN FUSHI TARAZU-LIKE PROTEIN; 1.
DR   Pfam; PF00046; Homeodomain; 1.
DR   Pfam; PF12284; HoxA13_N; 1.
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; P31276; HS.
PE   1: Evidence at protein level;
KW   Developmental protein; Disease variant; DNA-binding; Ectodermal dysplasia;
KW   Homeobox; Nucleus; Reference proteome; Transcription;
KW   Transcription regulation.
FT   CHAIN           1..330
FT                   /note="Homeobox protein Hox-C13"
FT                   /id="PRO_0000200197"
FT   DNA_BIND        260..319
FT                   /note="Homeobox"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT   REGION          30..50
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         50
FT                   /note="S -> I (in dbSNP:rs1867298)"
FT                   /id="VAR_012357"
FT   VARIANT         271
FT                   /note="Q -> R (in ECTD9; uncertain significance;
FT                   dbSNP:rs1383255506)"
FT                   /evidence="ECO:0000269|PubMed:28297138"
FT                   /id="VAR_079380"
FT   CONFLICT        95
FT                   /note="D -> E (in Ref. 1; AAF67760)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   330 AA;  35379 MW;  7D67C5F1E5E4E915 CRC64;
     MTTSLLLHPR WPESLMYVYE DSAAESGIGG GGGGGGGGTG GAGGGCSGAS PGKAPSMDGL
     GSSCPASHCR DLLPHPVLGR PPAPLGAPQG AVYTDIPAPE AARQCAPPPA PPTSSSATLG
     YGYPFGGSYY GCRLSHNVNL QQKPCAYHPG DKYPEPSGAL PGDDLSSRAK EFAFYPSFAS
     SYQAMPGYLD VSVVPGISGH PEPRHDALIP VEGYQHWALS NGWDSQVYCS KEQSQSAHLW
     KSPFPDVVPL QPEVSSYRRG RKKRVPYTKV QLKELEKEYA ASKFITKEKR RRISATTNLS
     ERQVTIWFQN RRVKEKKVVS KSKAPHLHST
//