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: HIT000089036 Accession number: BC016712 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Homeobox protein Hox-A13; Fragment;

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

Transcript original information Accession number BC016712.1 CAGE tag ID NA EST ID NA Clone Number IMAGE:4108342 Experimental resources   NBRC ; HGPD ; Sequence data provider NA Annotation project NA Length of cDNA 1506[bp] (No. of exon:1)[A:510 T:469 G:268 C:259] Devision HTC Molecular type mRNA Library origin Cell type NA Tissue type Bone marrow, acute myelogenous leukemia Develpmental stage NA

Sequence quality information CDS feature N-truncated Kozak sequence NA PolyA Site: 1477(+) Signal: 1458-1462(+) Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) NA Transcript quality feature NA Notes NA

GGGAACGGGAATACGCCACGAATAAATTCATTACTAAGGACAAACGGAGG CGGATATCAGCCACGACGAATCTCTCTGAGCGGCAGGTCACAATCTGGTT CCAGAACAGGAGGGTTAAAGAGAAAAAAGTCATCAACAAACTGAAAACCA CTAGTTAATGGATTAAAAATAGAGCAAGAAGGCAACTTGAAGAAACGCTT CAGAACTCGTTGCTTTGCCCAGATAATGATAATAATGCTTAATAATAATT GAAGAATGGGAAAGAGAAAGAGACAGAGACTGGCATTTTCCTCTCCCGAA GGAGATCTCTTTCTCTTTAATGGAATCTACAACTGTTTTAAAACTTTAAG AAAGGTAAAGACTGCCAGTTCTTCCGCCAACCCCATCAGCCCAGCCCGTT AAATGTCAAACGTCAACCCCCAAAATACGCAATTTCAGATAAGTTACGCA GTTACTGAAATCTTGTAAGTATTTAAGTGATCGTTACATTTTAGGACACT GCGTTAGATGGTAATAATCTGGAAGTTGGTTACAAACGCAAGAGGCCATT GTAAACATCTGCTTGTCCTTCTTAGGTCGCCATTCCCTTTGCATGTTAAG CGTCTGCTCAGGTAAATCTTAGTGAAATTCCTACCGTTGTTGTACGTTCT GCAAAACATTTTATGTATAGATTTAGAGGGGAAACGAGAAGGTACTGAAA TAATGATCTTGGAATATTTGCTGTGAAGGGAGAAAGGGAGAGAAAACTCT TCTGAGGATCATTTGTCTTGGTAGTATAGTAAAACCAACCAGCTGAACCT TTCAGGCTACAAGAGAACCCGGGTCGGTAATGTCTTTTTAAGAATAATTT TTAATTGCTTATAACAAGCATATTTTGTGGCATTTGAACTATATTTACTG CTCCAATATCCGTTATTTTCCAAAGGATTTTGTATCTTTTTGAAAATGTT TACATCATCAGATGATCCACAGAATTCACTTTATGTGAGATCTCCCGAGA GTTTCCATCCCAACATAATGGACTTTGGTTTGAACACAATTCGTTTTTTC ATTTGAATTGGCATTTCCCAATATTTGCTAAACATTTGCTGGAGAAATCA TTTTTCTTTTTTCTTTTTTAGAAAACTCAGAATGAAAATTCATTCCCCTG AAATATTTAGGTGTCTATATTCTATATTTTGATCTATTAAGGGATTAGTA TTTTTCCATGTTTATTGTGTTATCAGAGTGCATTAGAAAGATTAGTGATT CATCTTCACAGCACATTTTTAATCAAGCAGTTATTTCAACCAGCACATTC GTTTTGTTCATATTCACTATAGAATGATATCTTGTAAATAAAGACATTCA GCACACTGTGAAAATGTATTTGTGCACCTGCTTTTTAAATATTTCTACTA AAAATGAAAAAAAAACCCCTTAGACCTGTAGATAGTGATATCGTAATATT AATTGTTAATAAAATAGTCACTGCCGAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA

Gene structure information

H-Inv cluster ID		HIX0201189
Genomic location	Chromosome	7
	Location	7p15.2
	Position	27236499- 27237972
	Strand	-
Possible duplicated location(s)		NA
Gene structure		1 exon(s)
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:3209;
	KEGG GENES	KEGG GENES(3209);
	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 HIP000008003 Predicted CDS 3..158;  51[aa];  Orientation:+3;  Codon Adaptation Index (CAI). 0.769

EREYATNKFITKDKRRRISATTNLSERQVTIWFQNRRVKEKKVINKLKTT S*

Motif information

	a.a. length	InterPro	Name
	42	IPR009057	Homeodomain-like [Domain]
	45	IPR009057	Homeodomain-like [Domain]
	43	IPR001356	Homeobox domain [Domain]
	47	IPR001356	Homeobox domain [Domain]
	42	IPR001356	Homeobox domain [Domain]
	12	IPR020479	Homeodomain, metazoa [Domain]
	24	IPR017970	Homeobox, conserved site [Conserved_site]
	11	IPR020479	Homeodomain, metazoa [Domain]
	10	IPR020479	Homeodomain, metazoa [Domain]

Gene function information

H-Inv ID		HIT000089036
H-Inv cluster ID		HIX0201189
Accession number		BC016712.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Protein coding;
Definition		Similar to Homeobox protein Hox-A13; Fragment;
Similarity category		Category: Similar to known protein(Category II).
		Similar to known protein (P50210)  [Identity/coverage = 100.0%/47.66%] to Ambystoma mexicanum (Axolotl). protein.
Experimental evidence		Protein evidence
PubMed ID		7600989;  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	NA
	UniProt	HOXA13
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	HIP000008003
	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:3209;
	KEGG GENES	KEGG GENES(3209);
	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	Not targeted
Related H-InvDB links	LIFEdb;  JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Gene expression information

Last modified:27-May-2015

Tissue-specific expression			NA
Probe information	AceGene		AGhsA200723;
	Affymetrix GeneChip	HG-Focus	NA
		HG-U133	231786_at;
		HG-U133A	NA
		HG-U133A_2	NA
		HG-U133B	231786_at;
		HG-U133_Plus_2	231786_at;
		HG-U95	60937_at;
		HG-U95A	NA
		HG-U95B	NA
		HG-U95C	60937_at;
		HG-U95D	NA
		HG-U95E	NA
		HG-U95Av2	NA
		HuEx-1_0	3043001;  3043002;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	A_23_P389281;
		Whole Human Genome Oligo Microarray:PGID247	A_23_P31306;  A_23_P389281;
Related H-InvDB links			H-ANGEL;  DNAProbeLocator;

Disease/pathology information

Last modified:27-May-2015

Disease relation		Disease name: Guttmacher syndrome (176305);  Disease name: Hand-foot-uterus syndrome (140000);
Related information in OMIM		OMIM ID:  142959;  Title: HOMEOBOX A13
Co-localized orphan diseases		NA
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(3209)
	Disease	Entrez Gene ID:(3209)
	Substance	Entrez Gene ID:(3209)
Related H-InvDB links		DiseaseInfo Viewer;  LEGENDA;

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 14 .. 14 C/T rs138584447 - CDS Synonymous[Tyr4Tyr] 67 .. 67 C/T rs149615551 - CDS Nonsynonymous[Thr22Met] 98 .. 98 G/A rs104894019 + CDS AA-STOP[Trp32*] 105 .. 105 A/C rs121912542 + CDS Nonsynonymous[Asn35His] 132 ^ 133 -/G rs66586358 - CDS 208 .. 208 C/T rs199530619 - 3'UTR 209 .. 209 G/A rs138250182 - 3'UTR 271 .. 271 A/C rs41303372 - 3'UTR 305 .. 305 A/T rs17472448 - 3'UTR 466 .. 466 T/G rs181575995 - 3'UTR 522 .. 522 G/A rs2189239 - 3'UTR 669 .. 669 A/G rs143288289 - 3'UTR 934 .. 934 A/G rs189176903 - 3'UTR 1017 .. 1017 A/G rs757181 - 3'UTR 1105 .. 1105 T/C rs112139316 - 3'UTR 1130 .. 1130 G/A rs145750950 - 3'UTR 1148 ^ 1149 -/C rs35379558 - 3'UTR 1156 .. 1156 T/C rs185640292 - 3'UTR 1256 .. 1256 T/A rs142106798 - 3'UTR 1315 .. 1315 C/A rs181330984 - 3'UTR 1416 .. 1416 C/A rs115525024 - 3'UTR 1418 ^ 1419 -/C rs72001807 - 3'UTR  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;