HXC13_HUMAN
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 03-AUG-2022, entry version 198.
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="http://atlasgeneticsoncology.org/Genes/HOXC13ID473ch12q13.html";
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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; 18.
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; P31276; -.
DR PeptideAtlas; P31276; -.
DR PRIDE; P31276; -.
DR ProteomicsDB; 54776; -.
DR Antibodypedia; 27302; 116 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 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; SKNNHMH; -.
DR OrthoDB; 1190384at2759; -.
DR PhylomeDB; P31276; -.
DR TreeFam; TF330813; -.
DR PathwayCommons; P31276; -.
DR SignaLink; P31276; -.
DR SIGNOR; P31276; -.
DR BioGRID-ORCS; 3229; 26 hits in 1106 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 32 other tissues.
DR Genevisible; P31276; HS.
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 transcription, DNA-templated; 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 InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR022067; HoxA13_N.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF12284; HoxA13_N; 1.
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; 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; unknown pathological 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
