H-InvDB_8.3 released on March 26, 2013. Search by Keyword H-Inv ID (HIT) H-Inv cluster ID (HIX) H-Inv protein ID (HIP) H-Inv gene family/group (HIF) Accession number Chromosome number Chromosome band Definition* Data source ID --- CCDS ID dbSNP ID (rs number) EC number Ensembl ID EntrezGene ID FR ID FR Accession number GO ID GO name* HGNC gene symbol HGNC gene name* InterPro ID InterPro name* OMIM ID OMIM title* Pathway ID Pathway name* RefSeq (gene) ID RefSeq (protein) ID SCOP ID UniProt for Advanced Search

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H-Invitational ID: HIT000243877 Accession number: AJ001481 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Homeobox domain containing protein.

		Select format Flat file XML file Nucleotide sequence fasta Protein sequence fasta

Transcript original information Accession number AJ001481.1 CAGE tag ID NA EST ID NA Clone Number NA Experimental resources   NBRC ; HGPD ; Antibody (DUX1) ; Catalog (DUX1); Sequence data provider NA Annotation project NA Length of cDNA 1227[bp] (No. of exon:0)[A:239 T:195 G:381 C:412] Devision HUM Molecular type mRNA Library origin Cell type rhabdomyosarcoma Tissue type NA Develpmental stage NA

Sequence quality information CDS feature Complete CDS Kozak sequence NA PolyA NA Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) NA Transcript quality feature NA Notes UM gene supported by high quality evidences.

CAGGCCTCCTGGCAGCACCTGCGCAGTGAACAGGCTGGCTGAGGTGCACG GGAGCCCGCCCGCCTCTCTCTGCCCGTGTCAGTCCGTGAAATTCCGGCCG GGGCTCCCTGAGATGGCCCTCCTGACAGCTTTGGACGACACCCTCCCCGA GGAAGCCCAGGGACCGGGAAGGCGAATGATACTCCTTTCGACCCCGAGTC AAAGTGATGCCCTGCGAGCCTGCTTTGAGCGGAACCTGTACCCGGGCATT GCCACCAAAGAAGAGCTGGCCCAGGGCATCGACATTCCGGAGCCCAGGGT CCAGATTTGGTTTCAGAATGAGAGATCATGCCAGTTGAGGCAGCACCGGC GGCAATCTCGGCCCTGGCCCGGGAGACGTGACCCGCAAAAAGGCAGACGA AAGCGGACTGCCATCACCGGATCCCAAACCGCCCTGCTCCTCCGAGCCTT TGAGAAGGATCGCTTTCCAGGCATTGCTGCCAGGGAAGAGCTGGCCAGAG AGACGGGCCTCCCGGAGTCCAGGATTCAGATCTGGTTTCAGAATCGAAGA GCCAGGCACCGGGGACAGTCTGGCAGGGCGCCCACGCAGGCAAGCATCCG GTGCAATGCAGCCCCAATTGGGTGACACCCTGCTCTCTCGTGGGTCGCCT TTGCCCACACTGGCGCATGGGGAAAGGGGCTTCCTGCACCACACATGCTC TCCCACAGTGGGCTTTCGTGAGCCATGGATTGAGGGCCGTCCCTGTGCTC CTGCCCAGCCAGGCCGCGCAGGCAGAAGGGATCTCCCAACCTGCCCCAGC ACATGGGGATTTTGCCTACACCGCCCAGGCTCCTCCAGAAGGGGCGCTCT CCCACACTCACACTCCTAGGTGGCATCCACACAAGGGCAAAATCCGGAAG GACTGGGACGCGCAGCGCGACGGCCTTCCGGGCACTTGCGCGGTGGGACA GCCTGGGCCCTCTCAAGCGGGGCCACAGGGCCAAGGTGTGCTTGCGCCAC CCGCGTCCCAGGGAAGTCCGTGGTGGGGGTGGAGCAGGGGTACCCAGGTC GCCGGTGTGGCGTGGAACCTCAAGCAGGGGCAATTCCACCTCACCAGCCC ACGCCCCCAGAGGCCTCCACACGGCAGGGGCAGATGCAAGGCATCTCAGC ACCCTCCCAGGCGCTCCTGGAGCCAGGGTGCTCGTCTGCACTCCACTCCA TCCTGCTGCTGGATGAGCTCCTGGCGA

Gene structure information

H-Inv cluster ID		HIX0041649
Genomic location	Chromosome	UM
	Location	NA
	Position	NA
	Strand	NA
Possible duplicated location(s)		NA
Gene structure		exon(s)
Database links	RefSeq	NM_012146;  NM_012148;  NM_012149;
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:26584;
	KEGG GENES	KEGG GENES(26584);
	GeneCard	DUX1;  *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links		H-DBAS;  G-integra;  cDNA-genome alignment;

Predicted CDS information HIP ID HIP000029642 Predicted CDS 113..625;  170[aa];  Orientation:+2;  Codon Adaptation Index (CAI). 0.785 Database links RefSeq NP_036278;  UniProt O43812;  CCDS NA

MALLTALDDTLPEEAQGPGRRMILLSTPSQSDALRACFERNLYPGIATKE ELAQGIDIPEPRVQIWFQNERSCQLRQHRRQSRPWPGRRDPQKGRRKRTA ITGSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQIWFQNRRARHR GQSGRAPTQASIRCNAAPIG*

Motif information

	a.a. length	InterPro	Name
	75	IPR009057	Homeodomain-like [Domain]
	61	IPR001356	Homeobox [Domain]
	66	IPR012287	Homeodomain-related [Domain]
	63	IPR001356	Homeobox [Domain]
	46	IPR001356	Homeobox [Domain]
	79	IPR009057	Homeodomain-like [Domain]
	70	IPR012287	Homeodomain-related [Domain]
	61	IPR001356	Homeobox [Domain]
	63	IPR001356	Homeobox [Domain]
	56	IPR001356	Homeobox [Domain]
	10	IPR000047	Helix-turn-helix motif, lambda-like repressor [Domain]
	24	IPR017970	Homeobox, conserved site [Conserved_site]
	17	IPR000047	Helix-turn-helix motif, lambda-like repressor [Domain]

Gene function information

H-Inv ID		HIT000243877
H-Inv cluster ID		HIX0041649
Accession number		AJ001481.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		Representative transcript;
Coding potential		Protein coding;
Definition		Homeobox domain containing protein.
Similarity category		Category: IPR domain containing protein(Category III).
		InterPro domain (IPR001356) -containing protein.
Experimental evidence		NA
PubMed ID		NA
Gene family/group	H-Inv gene family/group ID	NA
	Gene family/group name	NA
	Evidence motif (InterPro) ID	NA
Gene symbol/name	HGNC symbol	DUX1
	HGNC aliases	"double homeobox, 1"
	HGNC name	double homeobox 1
	DDBJ	DUX1
	UniProt	NA
EC number		NA
GGDB (GlycoGene Database)	Gene symbol	NA
	Familly	NA
	Designation	NA
	Expression	NA
KEGG metabolic pathway		NA
Protein-protein interaction (PPI)	H-Inv protein ID	HIP000029642
	No. of interaction	NA
	Interaction partner(s)	NA
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NM_012146;  NM_012148;  NM_012149;
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:26584;
	KEGG GENES	KEGG GENES(26584);
	GeneCard	DUX1;  *GeneCards is provided free to academic non-profit institutions.
	etc	Human-Gene diversity Of Life-style related Diseases;
Curation status		Human curated
Notes		UM gene supported by high quality evidences.
Related H-InvDB links		Gene family;  Similarity Search Tool;  TACT;

fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.

NA

Gene ontology information

Molecular function	DNA binding (GO:0003677);  sequence-specific DNA binding (GO:0043565);  transcription factor activity (GO:0003700);
Biological process	regulation of transcription (GO:0045449);  regulation of transcription, DNA-dependent (GO:0006355);
Cellular component	nucleus (GO:0005634);

Subcellular localization information

Last modified:20-Apr-2012

WoLF PSORT	nuclear;
Target P	Other
SOSUI	soluble protein
TMHMM	soluble protein
PTS1	Not targeted
Related H-InvDB links	LIFEdb;  JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP)

Last modified:20-Apr-2012

Start End PDB_ID E-value Identity Coverage SCOP_ID 27 71 1akhA 9e-09 31.1 45/49 a.4.1.1 82 150 1mnmC 8e-14 18.8 69/77 a.4.1.1

Related H-InvDB links GTOP

Gene expression information

Last modified:20-Apr-2012

Tissue-specific expression			NA
Probe information	AceGene		AGhsB040402;
	Affymetrix GeneChip	HG-Focus	208176_at;  208582_s_at;
		HG-U133	208176_at;  208582_s_at;
		HG-U133A	208176_at;  208582_s_at;
		HG-U133A_2	208176_at;  208582_s_at;
		HG-U133B	NA
		HG-U133_Plus_2	208176_at;  208582_s_at;
		HG-U95	31346_at;  31387_at;
		HG-U95A	31346_at;  31387_at;
		HG-U95B	NA
		HG-U95C	NA
		HG-U95D	NA
		HG-U95E	NA
		HG-U95Av2	NA
		HuEx-1_0	3273097;  4038018;  4038043;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	A_23_P146876;  A_23_P158257;
		Whole Human Genome Oligo Microarray:PGID247	A_23_P158257;
Related H-InvDB links			H-ANGEL;  DNAProbeLocator;

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  No data available  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  Type Start End Strand LSAU 3 108 - Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;