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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Locus view Protein view G-integra DiseaseInfo Viewer H-ANGEL Evola PPI view Gene Family/Group Hyperlink MS

H-Invitational ID: HIT000089215 Accession number: BC017230 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Similar to Sharpin; Shank-associated RH domain-interacting protein; Shank-interacting protein-like 1; hSIPL1;

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

Transcript original information Accession number BC017230.2 CAGE tag ID NA EST ID NA Clone Number IMAGE:4121648 Experimental resources   NBRC ; HGPD ; Antibody (SHARPIN) ; Catalog (SHARPIN); Sequence data provider NA Annotation project NA Length of cDNA 864[bp] (No. of exon:6)[A:217 T:151 G:224 C:272] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type Muscle, rhabdomyosarcoma Develpmental stage NA

Sequence quality information CDS feature N-truncated Kozak sequence NA PolyA Site: 792(+) Signal: 769-773(+) Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) CAGAAG;  Transcript quality feature Truncation;  Notes NA

GCATGCCCTGTCTCCCTGCCCAGTCCCCCGGAAGCCTCCACACTCAAGGG CCCTCCACCTGAGGCAGATCTTCCTAGGAGCCCTGGAAACTTGACGGAGA GAGAAGAGCTGGCAGGGAGCCTGGCCCGGGCTATTGCAGGTGGAGACGAG AAGGGGGCAGCCCAAGTGGCAGCCGTCCTGGCCCAGCATCGTGTGGCCCT GAGTGTTCAGCTTCAGGAGGCCTGCTTCCCACCTGGCCCCATCAGGCTGC AGGTCACACTTGAAGACGCTGCCTCTGCCGCATCCGCCGCGTCCTCTGCA CACGTTGCCCTGCAGGTCCACCCCCACTGCACTGTTGCAGCTCTCCAGGA GCAGGTGTTCTCAGAGCTCGGTTTCCCGCCAGCCGTGCAACGCTGGGTCA TCGGACGGTGCCTGTGTGTGCCTGAGCGCAGCCTTGCCTCTTACGGGGTT CGGCAGGATGGGGACCCTGCTTTCCTCTACTTGCTGTCAGCTCCTCGAGA AGCCCCAGCCCAGCTGGTCCTGTCCTTCCTGCACCTTCATCAATGCCCCA GACCGCCCTGGCTGTGAGATGTGTAGCACCCAGAGGCCCTGCACTTGGGA CCCCCTTGCTGCAGCTTCCACCTAGCAGCCACCAGAGGTTACAAGGGGAG AGTGGCCCTTCCCTCACAAGTCCGACATCTCCAGGCCCCCACTGAACTCC GGGGACCTCTACTGACTGCTTGCTGGGACAGTCACCAGGGTTGGGGGGAA GGGCCACAAAATGAAACCATTAAAGACCCTTAAGAGCCAGCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA

Gene structure information

H-Inv cluster ID		HIX0017281
Genomic location	Chromosome	8
	Location	8q24.3
	Position	145153537- 145154934
	Strand	-
Possible duplicated location(s)		NA
Gene structure		6 exon(s)
Database links	RefSeq	NM_030974;  NR_038270;
	Ensembl	ENST00000359551;  ENST00000398712;  ENST00000525275;  ENST00000530216;  ENST00000531375;  ENST00000532536;  ENST00000533184;  ENST00000533948;  ENST00000534242;  ENST00000534435;
	Entrez Gene	Entrez Gene ID:81858;
	KEGG GENES	KEGG GENES(81858);
	GeneCard	SHARPIN;  *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 HIP000000403 Predicted CDS 1..567;  188[aa];  Orientation:+1;  Codon Adaptation Index (CAI). 0.847 Database links RefSeq NA UniProt Q6PJD5;  CCDS NA

ACPVSLPSPPEASTLKGPPPEADLPRSPGNLTEREELAGSLARAIAGGDE KGAAQVAAVLAQHRVALSVQLQEACFPPGPIRLQVTLEDAASAASAASSA HVALQVHPHCTVAALQEQVFSELGFPPAVQRWVIGRCLCVPERSLASYGV RQDGDPAFLYLLSAPREAPAQLVLSFLHLHQCPRPPWL*

Gene function information

H-Inv ID		HIT000089215
H-Inv cluster ID		HIX0017281
Accession number		BC017230.2
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Protein coding;
Definition		Similar to Sharpin; Shank-associated RH domain-interacting protein; Shank-interacting protein-like 1; hSIPL1;
Similarity category		Category: Similar to known protein(Category II).
		Similar to known protein (Q9H0F6)  [Identity/coverage = 99.517%/64.34%] to Homo sapiens (Human). protein.
Experimental evidence		Protein evidence
PubMed ID		11230166;  12753155;  14702039;  15489334;  16421571;  18669648;  20179993;  21455173;  21455180;  21455181;  ALL;
Gene family/group	H-Inv gene family/group ID	HIF0003600
	Gene family/group name	Human gene family/group candidate, HIF0003600.
	Evidence motif (InterPro) ID	NA
Gene symbol/name	HGNC symbol	SHARPIN
	HGNC aliases	NA
	HGNC name	SHANK-associated RH domain interactor
	DDBJ	SHARPIN
	UniProt	SHARPIN
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	HIP000000403
	No. of interaction	NA
	Interaction partner(s)	NA
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NM_030974;  NR_038270;
	Ensembl	ENST00000359551;  ENST00000398712;  ENST00000525275;  ENST00000530216;  ENST00000531375;  ENST00000532536;  ENST00000533184;  ENST00000533948;  ENST00000534242;  ENST00000534435;
	Entrez Gene	Entrez Gene ID:81858;
	KEGG GENES	KEGG GENES(81858);
	GeneCard	SHARPIN;  *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		Human gene family/group candidate, HIF0003600. Similarity Search Tool;  TACT;

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

NA

Subcellular localization information

Last modified:20-Apr-2012

WoLF PSORT	extracellular;  cytosol;  nuclear;  Other;
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 15 47 2c6aA1 1e-04 27.3 33/46 g.41.11.1

Related H-InvDB links GTOP

Gene expression information

Last modified:20-Apr-2012

Tissue-specific expression			NA
Probe information	AceGene		AGhsB240805;
	Affymetrix GeneChip	HG-Focus	NA
		HG-U133	220973_s_at;
		HG-U133A	220973_s_at;
		HG-U133A_2	220973_s_at;
		HG-U133B	NA
		HG-U133_Plus_2	220973_s_at;
		HG-U95	44103_at;  50979_s_at;  50981_r_at;  64307_s_at;  87805_at;
		HG-U95A	NA
		HG-U95B	44103_at;
		HG-U95C	50979_s_at;  50981_r_at;  64307_s_at;
		HG-U95D	NA
		HG-U95E	87805_at;
		HG-U95Av2	NA
		HuEx-1_0	3158115;  3158116;  3158118;  3158119;  3158123;  3158124;  3158125;  3158126;  3158128;  3158129;  3158130;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	A_23_P94942;
		Whole Human Genome Oligo Microarray:PGID247	A_23_P94942;
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:(81858)
	Disease	Entrez Gene ID:(81858)
	Substance	Entrez Gene ID:(81858)
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 25 .. 25 C/T rs11541805 + CDS Nonsynonymous[Pro9Ser] 101 ^ 102 -/T rs34857822 - CDS 175 .. 175 G/A rs113734637 - CDS Nonsynonymous[Val59Ile] 298 .. 298 G/C rs11541802 + CDS Nonsynonymous[Ala100Pro] 393 .. 393 C/T rs34839093 - CDS Synonymous[Arg131Arg] 406 .. 406 C/T rs77359862 - CDS Nonsynonymous[Arg136Trp] 431 .. 431 G/C rs11541804 - CDS Nonsynonymous[Ser144Thr] 446 .. 446 G/A rs11541803 - CDS Nonsynonymous[Gly149Glu] 466 .. 466 C/T rs34674752 - CDS Nonsynonymous[Pro156Ser] 555 .. 555 G/A rs112552278 - CDS Synonymous[Pro185Pro] 790 .. 790 G/C rs113194942 - 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;