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: HIT000264237 Accession number: BC070279 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Similar to Disintegrin and metalloproteinase domain-containing protein 18; ADAM 18; Transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III; tMDC III; Precursor;

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Transcript original information Accession number BC070279.1 CAGE tag ID NA EST ID NA Clone Number IMAGE:6102258 Experimental resources   NBRC ; HGPD ; Antibody (ADAM18) ; Catalog (ADAM18); Sequence data provider NA Annotation project NA Length of cDNA 1121[bp] (No. of exon:6)[A:361 T:391 G:175 C:194] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type Testis Develpmental stage NA

Sequence quality information CDS feature Complete CDS Kozak sequence NA PolyA Site: 1093(+) Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) NA Transcript quality feature NA Notes NA

TCTGTCCTTGGCTGTGGCTCCTGCGCTCTGGCTGAGCCATGTTCCTTCTC CTCGCCCTCCTCACTGAGCTTGGAAGACTGCAAGCCCACGAAGGTTCTGA AGGAATATTTCTGCATGTCACAGTTCCACGGAAGATTAAGTCAAATGACA GTGAAGTTTCAGAGAGGAAGATGATTTACATCATTACAATTGATGGACAA CCTTACACTCTACATCTCGGAAAACAATCATTCTTACCCCAGAACTTTTT GGTTTATACATATAATGAAACTGGATCTTTGCATTCTGTGTCTCCATATT TTATGATGCATTGCCATTACCAAGGATATGCTGCCGAATTTCCAAATTCA TTTGTGACACTCAGTATATGTTCTGGTCTCAGGGGATTTCTCCAGTTTGA AAATATCAGTTATGGAATTGAACCAGTAGAATCTTCAGCAAGATTTGAGC ATATAATTTATCAAATGAAAAATAATGATCCAAATGTATCCATTTTAGCA GTAAATTACAGTCATATTTGGCAGAAAGACCAGCCCTACAAAGTTCCTTT AAACTCACAGGTGACTGTCATCATTCTGATGTTATGACATACTAGAACAT TGCCTGTGTAGTTTTCTTGTAAATCATGAAAGGAATTTAGTTAGCTGTTG AGTAGGAATATTAAATTTTATGTATTTTTCTACCTTTAAATAAAACATTG AAACTTCATCTAAAATATTTGGAAAGTTACATATTTCAAGCTTAATATTT TATGATGTATTATGTAACATTAATTTTTATATTTTTTTCAAACAAAATGA TACTATTGAAAAAGTTTAGAAATGCAGAAAGAACAGAGTCACTGTTATTC TAGTACCTTGGTAAAATTACTTTTAATATTTTGTTATATATCTTACATAC TACCTGAACATATCTTTCTAAAATGCACAGCCATTTGCATGTTGCCAGAT GCTCTTAATTTGCTGGTAGACTAGGTATAGAATTCTTGCTGGCAGTTTCT TTCTTTCAGCACTTTGAATATTTCAATCCATCACCATGTGGCCTCTGTTT TTTCTGATAAAAATATTCTATTATTCTTATTGGGAATTCCTTAAAAAAAA AAAAAAAAAAAAAAAAAAAAA

Gene structure information

H-Inv cluster ID		HIX0034291
Genomic location	Chromosome	8
	Location	8p11.22
	Position	39442104- 39468757
	Strand	+
Possible duplicated location(s)		NA
Gene structure		6 exon(s)
Database links	RefSeq	NM_014237;  NM_001190956;
	Ensembl	ENST00000265707;  ENST00000379866;  ENST00000520001;  ENST00000520087;  ENST00000520559;  ENST00000520772;  ENST00000522198;  ENST00000523755;  ENST00000524117;  ENST00000541111;
	Entrez Gene	Entrez Gene ID:8749;
	KEGG GENES	KEGG GENES(8749);
	GeneCard	ADAM18;  *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 HIP000053036 Predicted CDS 39..587;  182[aa];  Orientation:+3;  Codon Adaptation Index (CAI). 0.701 Database links RefSeq NP_001177885;  UniProt Q6IRW9;  CCDS NA

MFLLLALLTELGRLQAHEGSEGIFLHVTVPRKIKSNDSEVSERKMIYIIT IDGQPYTLHLGKQSFLPQNFLVYTYNETGSLHSVSPYFMMHCHYQGYAAE FPNSFVTLSICSGLRGFLQFENISYGIEPVESSARFEHIIYQMKNNDPNV SILAVNYSHIWQKDQPYKVPLNSQVTVIILML*

Motif information

	a.a. length	InterPro	Name
	117	IPR002870	Peptidase M12B, propeptide [Domain]

Gene function information

H-Inv ID		HIT000264237
H-Inv cluster ID		HIX0034291
Accession number		BC070279.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Protein coding;
Definition		Similar to Disintegrin and metalloproteinase domain-containing protein 18; ADAM 18; Transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III; tMDC III; Precursor;
Similarity category		Category: Similar to known protein(Category II).
		Similar to known protein (Q95194)  [Identity/coverage = 94.253%/23.32%] to Macaca fascicularis (Crab-eating macaque) (Cynomolgus monkey). protein.
Experimental evidence		Protein evidence
PubMed ID		9665629;  ALL;
Gene family/group	H-Inv gene family/group ID	HIF0000033
	Gene family/group name	Putative Blood coagulation inhibitor, Disintegrin (IPR001762).
	Evidence motif (InterPro) ID	IPR001762
Gene symbol/name	HGNC symbol	ADAM18
	HGNC aliases	"a disintegrin and metalloproteinase domain 18"
	HGNC name	ADAM metallopeptidase domain 18
	DDBJ	ADAM18
	UniProt	ADAM18
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	HIP000053036
	No. of interaction	NA
	Interaction partner(s)	NA
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NM_014237;  NM_001190956;
	Ensembl	ENST00000265707;  ENST00000379866;  ENST00000520001;  ENST00000520087;  ENST00000520559;  ENST00000520772;  ENST00000522198;  ENST00000523755;  ENST00000524117;  ENST00000541111;
	Entrez Gene	Entrez Gene ID:8749;
	KEGG GENES	KEGG GENES(8749);
	GeneCard	ADAM18;  *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		Putative Blood coagulation inhibitor, Disintegrin (IPR001762). 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	zinc ion binding (GO:0008270);  metalloendopeptidase activity (GO:0004222);
Biological process	proteolysis (GO:0006508);

Subcellular localization information

Last modified:20-Apr-2012

WoLF PSORT	extracellular;  cytosol;  nuclear;  Other;
Target P	signal peptide
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:20-Apr-2012

Tissue-specific expression			NA
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	1568970_at;
		HG-U95	74195_at;  74197_g_at;
		HG-U95A	NA
		HG-U95B	NA
		HG-U95C	NA
		HG-U95D	NA
		HG-U95E	74195_at;  74197_g_at;
		HG-U95Av2	NA
		HuEx-1_0	3095159;  3095164;  3095167;  3095168;  3095169;  3095170;  3095171;  3095172;  3095173;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	NA
		Whole Human Genome Oligo Microarray:PGID247	NA
Related H-InvDB links			H-ANGEL;  DNAProbeLocator;

Disease/pathology information

Last modified:20-Apr-2012

Disease relation		Disease name:NA
Related information in OMIM		OMIM ID:NA Title:NA
Co-localized orphan diseases		OMIM ID:  148370;  606129;  606662;  609259;  612279;
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(8749)
	Disease	Entrez Gene ID:(8749)
	Substance	Entrez Gene ID:(8749)
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 2 .. 2 C/G rs74642468 + 5'UTR 80 .. 80 G/A rs111343122 + CDS Synonymous[Leu14Leu] 463 .. 463 A/T rs73605945 + CDS Nonsynonymous[Gln142Leu] 897 .. 897 A/G rs113111969 + 3'UTR 930 .. 930 G/T rs112060665 + 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  Type Start End Strand L1M4c 971 1092 - Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;