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: HIT000390089 Accession number: BC130299 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Conserved hypothetical protein.

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Transcript original information Accession number BC130299.1 CAGE tag ID NA EST ID NA Clone Number MGC:163171 IMAGE:40146330 Experimental resources   NBRC ; HGPD ; Antibody (C5orf56) ; Catalog (C5orf56); Sequence data provider NA Annotation project NA Length of cDNA 486[bp] (No. of exon:3)[A:120 T:123 G:107 C:136] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type Pooled, cerebellum, kidney, placenta, testis, lung, colon, liver, heart, thyroid, bladder, uterus, 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 Truncation;  Notes NA

CTGAGGATGGCCAGCAGAGAAACAAGAAAATGGACTCCCTGGCTGCTGGA GAGTTGAATGCCAGCCACCAGCCATGGGTGCCAGAGTTTGTAGCCTATTG GAGGAAAACACACCAAGGGAATCTTCAAACTCTTCTTCTCCACTGGCTCC TGCTGTGCTCCTGTCTCCATCACCTGTATAATGCTTCCTGCCATCCTGCC TTCCCCGTGGAGTACAGCCATGCTGTCTGCTGCTTACAGCCAAGATTCTG GAAAGAAATGTCTCCTTTTTCCTCGTCATCAACCACTCATTTATTCAGCA AGTGTTTCTTTTACACTTGCCTGTGCTGGGCATGGCAGCAATGCAGCAGT GAACAAAACCACCAGCCCTGCTCTCATGCAGCTTATAATCAAGTAGAGAG ACAGACATAAATGATTAATAGATGCTCCTGTAATGGCGGTTGTGAGGTGT GCTGCCACAGCCCAGCCACACACGCCAGTTCCCTTC

Gene structure information

H-Inv cluster ID		HIX0200727
Genomic location	Chromosome	5
	Location	NA
	Position	131755556- 131796622
	Strand	+
Possible duplicated location(s)		NA
Gene structure		3 exon(s)
Database links	RefSeq	NM_001013717;  NM_001207001;  NM_001207002;  NM_001207003;
	Ensembl	ENST00000337752;  ENST00000378947;  ENST00000378953;  ENST00000407797;  ENST00000443093;  ENST00000461203;  ENST00000464024;
	Entrez Gene	Entrez Gene ID:441108;
	KEGG GENES	KEGG GENES(441108);
	GeneCard	C5orf56;  *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 HIP000042872 Predicted CDS 30..410;  126[aa];  Orientation:+3;  Codon Adaptation Index (CAI). 0.761 Database links RefSeq NP_001013739;  UniProt Q8N8D9;  CCDS CCDS34232;

MDSLAAGELNASHQPWVPEFVAYWRKTHQGNLQTLLLHWLLLCSCLHHLY NASCHPAFPVEYSHAVCCLQPRFWKEMSPFSSSSTTHLFSKCFFYTCLCW AWQQCSSEQNHQPCSHAAYNQVERQT*

Gene function information

H-Inv ID		HIT000390089
H-Inv cluster ID		HIX0200727
Accession number		BC130299.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		Representative transcript;
Coding potential		Protein coding;
Definition		Conserved hypothetical protein.
Similarity category		Category: Conserved hypothetical protein(Category IV).
		Conserved hypothetical 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	C5orf56
	HGNC aliases	NA
	HGNC name	chromosome 5 open reading frame 56
	DDBJ	LOC441108
	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	HIP000042872
	No. of interaction	NA
	Interaction partner(s)	NA
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NM_001013717;  NM_001207001;  NM_001207002;  NM_001207003;
	Ensembl	ENST00000337752;  ENST00000378947;  ENST00000378953;  ENST00000407797;  ENST00000443093;  ENST00000461203;  ENST00000464024;
	Entrez Gene	Entrez Gene ID:441108;
	KEGG GENES	KEGG GENES(441108);
	GeneCard	C5orf56;  *GeneCards is provided free to academic non-profit institutions.
	etc	Human-Gene diversity Of Life-style related Diseases;
Curation status		Human curated
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

Subcellular localization information

Last modified:20-Apr-2012

WoLF PSORT	extracellular;  nuclear;  cytosol;  Other;
Target P	Other
SOSUI	membrane 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.

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:  601888;  608850;  611091;  612554;  612571;
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(441108)
	Disease	Entrez Gene ID:(441108)
	Substance	Entrez Gene ID:(441108)
Related H-InvDB links		DiseaseInfo Viewer;  LEGENDA;

Evolutionary information

Last modified:20-Apr-2012

Relationship	Species	Accession number	MGI	Links
Orthology	Pan sp. (Chimpanzee)	ENSPTRT00000049084		G-integra
Orthology	Macaca sp. (Macaque)	XM_001103876		G-integra

Phylogenetic tree [View by ATV]	Neighbor-joining (phb)
Related H-InvDB links	Evola;  dN/dS (under constraction);

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 150 .. 150 C/G rs6888107 + CDS Nonsynonymous[Leu41Val] 227 .. 227 C/A rs79609081 + CDS Synonymous[Val66Val] 325 ^ 326 -/A rs35610597 + CDS 362 .. 362 C/T rs2522048 + CDS Synonymous[His111His] 437 .. 437 C/T rs2522049 + 3'UTR 473 .. 473 C/T rs2522050 + 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 L2a 285 418 - Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;