H-InvDB_9.0 released on May 27, 2015. 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: HIT000386894 Accession number: BC113441 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Homeobox protein MIXL1; Homeodomain protein MIX; hMix; MIX1 homeobox-like protein 1; Mix.1 homeobox-like protein;

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

Transcript original information Accession number BC113441.1 CAGE tag ID NA EST ID NA Clone Number MGC:142001 IMAGE:8322493 Experimental resources   NBRC ; HGPD ; Sequence data provider NA Annotation project NA Length of cDNA 815[bp] (No. of exon:2)[A:129 T:146 G:246 C:294] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type Brain, cerebellum, PCR rescued clones 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 NA

CCTGGCCCGGGAGGGTATAAGTGCGGCCCGCGCCCCTCCGAGCGGCGCGC TGGGTTCCGGAGCGATGGCCACAGCCGAGTCCCGTGCGCTCCAGTTTGCC GAGGGCGCCGCGTTTCCAGCGTACCGGGCCCCCCACGCCGGCGGGGCGCT CCTGCCGCCCCCGAGCCCTGCGGCAGCCCTGCTCCCTGCGCCGCCCGCGG GCCCCGGCCCAGCGACCTTTGCGGGCTTCCTCGGCCGGGACCCCGGGCCG GCCCCGCCGCCCCCCGCCAGCCTGGGCTCGCCTGCGCCCCCCAAAGGCGC GGCCGCCCCGTCGGCGTCGCAGCGCCGCAAGCGCACGTCTTTCAGCGCCG AACAGCTGCAGCTGCTGGAGCTCGTCTTCCGCCGGACCCGGTACCCCGAC ATCCACTTGCGCGAGCGCCTGGCCGCGCTCACCCTGCTCCCCGAGTCCAG GATCCAGGTATGGTTCCAGAACAGGCGTGCCAAGTCTCGGCGTCAGAGTG GGAAATCCTTCCAACCTTTGGCTAGGCCGGAGATTATCCTCAACCACTGT GCTCCTGGAACTGAAACGAAATGTCTGAAGCCCCAGCTGCCTCTTGAGGT AGATGTGAACTGCCTGCCCGAACCAAACGGGGTTGGAGGGGGCATCTCTG ACTCTAGCTCCCAAGGTCAGAATTTTGAAACCTGTTCCCCTCTCTCTGAA GACATTGGTTCAAAGCTGGACTCATGGGAGGAACACATCTTTTCTGCCTT TGGTAACTTTTGAGGATTCTGGGAGAATTCGGGATAAGCTCTGAGGAGCC ATGACTGACAGCCTG

Gene structure information

H-Inv cluster ID		HIX0028575
Genomic location	Chromosome	1
	Location	1q42.12
	Position	226411319- 226413565
	Strand	+
Possible duplicated location(s)		NA
Gene structure		2 exon(s)
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:83881;
	KEGG GENES	KEGG GENES(83881);
	GeneCard	NA *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 HIP000035135 Predicted CDS 65..763;  232[aa];  Orientation:+2;  Codon Adaptation Index (CAI). 0.742 Database links RefSeq NP_114150;  UniProt Q9H2W2;  CCDS CCDS1552;

MATAESRALQFAEGAAFPAYRAPHAGGALLPPPSPAAALLPAPPAGPGPA TFAGFLGRDPGPAPPPPASLGSPAPPKGAAAPSASQRRKRTSFSAEQLQL LELVFRRTRYPDIHLRERLAALTLLPESRIQVWFQNRRAKSRRQSGKSFQ PLARPEIILNHCAPGTETKCLKPQLPLEVDVNCLPEPNGVGGGISDSSSQ GQNFETCSPLSEDIGSKLDSWEEHIFSAFGNF*

Motif information

	a.a. length	InterPro	Name
	65	IPR009057	Homeodomain-like [Domain]
	66	IPR009057	Homeodomain-like [Domain]
	61	IPR001356	Homeobox domain [Domain]
	63	IPR001356	Homeobox domain [Domain]
	57	IPR001356	Homeobox domain [Domain]
	24	IPR017970	Homeobox, conserved site [Conserved_site]

Gene function information

H-Inv ID		HIT000386894
H-Inv cluster ID		HIX0028575
Accession number		BC113441.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Protein coding;
Definition		Homeobox protein MIXL1; Homeodomain protein MIX; hMix; MIX1 homeobox-like protein 1; Mix.1 homeobox-like protein;
Similarity category		Category: Identical to known human protein(Category I).
		Identical to known human protein (Q9H2W2)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence		Protein evidence
PubMed ID		11084649;  12070013;  15489334;  16433620;  16710414;  17224082;  17303500;  ALL;
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	NA
	HGNC aliases	NA
	HGNC name	NA
	DDBJ	MIXL1
	UniProt	MIXL1
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	HIP000035135
	No. of interaction	NA
	Interaction partner(s)	NA
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:83881;
	KEGG GENES	KEGG GENES(83881);
	GeneCard	NA *GeneCards is provided free to academic non-profit institutions.
	etc	Human-Gene diversity Of Life-style related Diseases;
Curation status		Auto-annotated
Notes		NA
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);
Biological process	regulation of transcription, DNA-dependent (GO:0006355);

Subcellular localization information

Last modified:27-May-2015

WoLF PSORT	nuclear;
Target P	Other
SOSUI	soluble protein
TMHMM	soluble protein
PTS1	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:27-May-2015

Start End PDB_ID E-value Identity Coverage SCOP_ID 86 155 1b72B 1e-16 22.9 70/73 a.4.1.1

Related H-InvDB links GTOP

Gene expression information

Last modified:27-May-2015

Tissue-specific expression			blood/spleen/LND;
Probe information	AceGene		NA
	Affymetrix GeneChip	HG-Focus	NA
		HG-U133	NA
		HG-U133A	NA
		HG-U133A_2	NA
		HG-U133B	NA
		HG-U133_Plus_2	NA
		HG-U95	NA
		HG-U95A	NA
		HG-U95B	NA
		HG-U95C	NA
		HG-U95D	NA
		HG-U95E	NA
		HG-U95Av2	NA
		HuEx-1_0	NA
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	NA
		Whole Human Genome Oligo Microarray:PGID247	NA
Related H-InvDB links			H-ANGEL;  DNAProbeLocator;

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

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 368 .. 368 G/C rs202005618 + CDS Nonsynonymous[Glu102Gln] 436 .. 436 G/A rs202018885 + CDS Synonymous[Leu124Leu] 489 .. 489 G/T rs145225693 + CDS Nonsynonymous[Arg142Leu] 558 ^ 559 -/C rs36100504 + CDS 562 .. 562 T/C rs150124070 + CDS Synonymous[Thr166Thr] 584 .. 584 C/T rs79599422 + CDS AA-STOP[Gln174*] 589 .. 589 G/A rs143213308 + CDS Synonymous[Leu175Leu] 613 .. 613 C/T rs3738796 - CDS Synonymous[Cys183Cys] 623 .. 623 C/A rs201172577 + CDS Nonsynonymous[Pro187Thr] 655 .. 655 T/C rs114679749 + CDS Synonymous[Ser197Ser] 664 .. 664 A/C rs200310896 + CDS Nonsynonymous[Gln200His] 689 .. 689 C/T rs151275498 + CDS Nonsynonymous[Pro209Ser] 713 .. 713 A/G rs200659360 + CDS Nonsynonymous[Lys217Glu] 748 .. 748 C/T rs143393232 + CDS Synonymous[Ala228Ala]  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;