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

Home Quick guide Navi BLAST Site map Download Contact us Help

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

H-Invitational ID: HIT000384911 Accession number: AK225781 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: WD repeat-containing protein 47 isoform 1.

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

Transcript original information Accession number AK225781.1 CAGE tag ID NA EST ID NA Clone Number FCC132C06 Experimental resources   NBRC ; HGPD ; Antibody (WDR47) ; Catalog (WDR47); Sequence data provider NA Annotation project NA Length of cDNA 4154[bp] (No. of exon:15)[A:1220 T:1230 G:884 C:820] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type brain Develpmental stage NA

Sequence quality information CDS feature N-truncated Kozak sequence NA PolyA Site: 4133(+) Signal: 4112-4116(+) Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) AAGAAG;  Transcript quality feature NA Notes NA

AAAACCCAGACCGCCGCCGTCGTGCTCCTGCCGCAGCCCGGAGCCGGCCG CTTCGGGGCCCTGGCCGCCGGCCTCCCAGCCGCGTTCTCCTCCGCCGCTC CTCCGGGCTTGCCCTGGAGCCCTCAGGCTATCAATATGACGGCTGAAGAA ACAGTGAATGTAAAAGAGGTTGAAATCATTAAGCTAATTTTGGACTTCCT GAATTCAAAGAAGCTTCACATTAGTATGCTGGCCCTGGAGAAGGAAAGTG GAGTCATAAATGGCCTGTTTTCAGATGATATGCTTTTCCTGAGGCAGCTA ATACTTGATGGTCAATGGGATGAAGTTCTTCAGTTCATTCAGCCTCTAGA ATGTATGGAAAAATTTGACAAAAAAAGGTTTCGTTATATTATCCTGAAGC AGAAGTTTTTAGAAGCTTTATGTGTTAACAACGCGATGTCAGCAGAAGAT GAGCCCCAGCATGTAAGATTTTTATTCCTGAAGCTGGAATTTACCATGCA AGAAGCTGTGCAATGTTTACATGCTCTAGAAGAATACTGTCCTTCTAAAG ATGACTATAGTAAGCTCTGTTTGCTTTTGACTTTGCCTCGTCTGACCAAT CATGCCGAGTTTAAGGACTGGAATCCCAGCACCGCACGAGTTCACTGTTT TGAAGAGGCTTGTGTCATGGTTGCAGAATTCATCCCTGCTGATAGGAAGC TAAGTGAAGCTGGTTTTAAGGCTAGTAACAATCGTTTATTTCAGCTTGTA ATGAAAGGCCTGCTTTATGAATGCTGTGTAGAATTTTGTCAGAGTAAAGC AACTGGAGAAGAAATTACAGAAAGCGAAGTGCTTCTTGGCATCGACCTCT TATGTGGTAATGGTTGTGATGATTTGGATCTGAGTTTACTGTCATGGCTT CAGAATCTTCCATCTTCTGTCTTCTCTTGTGCTTTTGAACAGAAAATGCT TAATATTCATGTTGACAAACTTCTGAAACCTACAAAAGCTGCATATGCTG ATCTTTTGACTCCTCTTATCAGCAAACTCTCTCCCTATCCATCATCCCCA ATGAGAAGACCTCAATCAGCTGATGCCTATATGACCCGCTCTCTGAATCC TGCTTTAGATGGCCTCACCTGTGGACTAACCAGTCATGATAAGAGAATTT CAGACCTTGGAAACAAAACTTCTCCAATGTCACACTCCTTTGCTAACTTC CATTATCCAGGGGTACAAAACCTCAGTAGAAGTCTCATGCTTGAGAATAC AGAATGTCACAGTATTTACGAAGAATCCCCTGAGCGAAGTGATACACCTG TTGATGCACAGAGGCCTATCGGCAGTGAAATCTTGGGCCAGAGTTCAGTT TCAGAAAAAGAGCCTGCAAATGGAGCACAGAATCCAGGACCAGCTAAACA AGAAAAAAAATGAGCTTCGAGATTCAACAGAACAATTTCAAGAATATTAT AGGCAAAGATTACGCTATCAACAGCATTTAGAACAGAAGGAGCAACAGCG GCAGATATACCAACAGATGTTGCTTGAAGGAGGCGTGAATCAGGAGGATG GTCCTGATCAGCAGCAGAATCTTACTGAACAGTTCCTTAATAGGTCCATT CAAAAGCTTGGTGAATTAAATATTGGAATGGATGGCCTTGGTAATGAGGT ATCAGCACTCAACCAGCAATGTAATGGGAGCAAAGGCAATGGATCTAATG GTTCTTCTGTGACTAGTTTTACTACACCACCCCAAGACTCTAGTCAGAGA TTAACACATGATGCTTCAAATATTCATACAAGCACTCCTCGTAATCCTGG ATCAACAAATCACATACCTTTTCTGGAGGAATCACCTTGTGGAAGCCAAA TCTCTTCAGAACATTCGGTCATTAAGCCACCTCTTGGAGATTCTCCAGGG AGTCTTTCAAGGTCGAAAGGGGAAGAGGATGACAAATCAAAAAAGCAGTT TGTTTGTATTAATATCCTAGAAGACACACAAGCTGTTAGAGCAGTGGCTT TTCATCCAGCTGGAGGTTTATATGCTGTTGGTTCAAATTCAAAAACTCTG AGAGTATGTGCCTATCCAGATGTAATTGATCCAAGTGCACATGAGACTCC TAAGCAGCCGGTGGTACGTTTTAAAAGGAATAAACATCATAAAGGATCCA TTTACTGTGTGGCCTGGAGTCCTTGTGGGCAGTTATTAGCAACAGGATCA AATGACAAATACGTCAAAGTGCTGCCCTTCAATGCAGAGACTTGTAACGC AACAGGACCAGATCTGGAATTTAGTATGCATGATGGAACAATTAGAGACT TGGCATTTATGGAAGGCCCAGAAAGCGGAGGAGCTATTTTAATAAGTGCT GGAGCAGGGGATTGTAACATTTATACAACCGATTGTCAAAGAGGACAGGG CCTCCATGCTTTGAGTGGACATACTGGGCATATTTTAGCACTTTATACCT GGAGTGGCTGGATGATTGCATCTGGTTCCCAAGATAAGACTGTTAGATTT TGGGATCTTCGAGTACCAAGTTGTGTTCGTGTTGTTGGCACAACATTTCA TGGAACTGGCAGTGCAGTGGCATCTGTAGCTGTAGATCCCAGTGGTCGTC TCTTAGCCACAGGTCAAGAAGATTCTAGCTGCATGTTGTATGACATAAGA GGAGGAAGAATGGTACAAAGTTATCATCCTCATTCCAGTGATGTTCGCTC TGTTCGATTCTCCCCTGGAGCTCACTACTTGCTAACAGGCTCTTATGATA TGAAAATAAAGGTGACAGACCTACAAGGGGACCTCACCAAGCAGCTTCCT ATCATGGTGGTGGGGGAGCACAAGGACAAAGTGATTCAGTGCAGATGGCA CACCCAGGATCTTTCCTTCCTGTCATCCTCTGCAGATAGAACTGTCACCC TCTGGACTTACAATGGGTAGAGCACACCGCATGTCAGTCTATGCAGCAAA AGCACAGAGACTTAAGACTACTGAGTTGTGAAAATTACAAATCTGAAGAA CATAGTGTCCAGGAAAGTGGTTTAGCACGAAGAGGCCCCTTATTACCATG TATCCCACTGATAGGAGGTGTTGGGTGGTGTTATTCCGCAGTGCTTTCAG TCTTCCATGTGAGCTCGTGCTGCTGTGACCTGCTATATGTAGTCTCGTTG CCAAAGTCTGCAGAAGAGCTCTTCAGTTGTTGGTGTGCACTCCAAGTCAG GATGGACAATGTGTTTACGGTTTAGTATTCAATGCATTCCTTGGTCTTTG CCTAAATAACAGTTTTATATGCACATTGAAATGGAATTATACTTCAACTA TATTATTAAATGTAATGCAACCAAGTTCCTCCCAGATTAAACTTCCCAGG TGTTCAGAATTACTTTTGCTCTTCTCACGATCCCATATTGTATTATCACT TGTCTTCTAGAGGTCAGAATTCCATAATATATGTCACTCAAAAGTTACAT GGTTGCTTTCACTTAAGGATCATTATGGAGTTTAAAGATGAATGAAAAAC TGCTTCTTAGTTTACTACATGGTATAGGCCCTTTTTTCTTAAACCCAGGG ATATGATTATTTTGTCATATAATTTTGTTTCAGGCTAAAAGGTAAATGTG TTTGCTTCAGAAACTTGTTAACTTCAGTTTTTTGAATGCAACAGGATACC TCCCTTCCAAACTGAACTGTAGAAGCAGAGCAGCAGCAGTTATGTGATGC AACACTTGATGGTACAGTAAATTTACTGGCATTTTTCTCCTTAAAAATTA AAATCCTTGACATAGACCATAGCATGGCTTGAAATGCTATGTCTGCATGA TAATTTAAAATGGAAGATTTAAACTTTGCACTCCAAAAGCTTATTTGGAT TTTTTTCTTGCACTGTTTTGTGTAATGCAGAATAATGATTTTATTTCTAC AGCTTTGTAGATTCTAACATTTATGTATCTTTATTTTCATATTGTACAGT AATTTTACTTTAAATTATTTAAATAGGCTATTTTATTTATTTCAAATGCA GTTGTATTAGTTCTCATTATTGAACTGTCTGTGCACTGTATGTAGCAAGC ATTTTTCATCTGTTGTATACAAGTGGAAAGGGTATTAGAAGTGTAACTGT GCTATTATTTCAATAAAGACCTCTTGACATTTAAAAAAAAAAAAAAAAAA AAAA

Gene structure information

H-Inv cluster ID		HIX0199788
Genomic location	Chromosome	1
	Location	NA
	Position	109512839- 109584608
	Strand	-
Possible duplicated location(s)		NA
Gene structure		15 exon(s)
Database links	RefSeq	NM_014969;  NM_001142550;  NM_001142551;
	Ensembl	ENST00000357672;  ENST00000361054;  ENST00000369962;  ENST00000369965;  ENST00000400794;  ENST00000528747;  ENST00000529074;  ENST00000530772;  ENST00000531337;
	Entrez Gene	Entrez Gene ID:22911;
	KEGG GENES	KEGG GENES(22911);
	GeneCard	WDR47;  *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 HIP000353499 Predicted CDS 1130..2920;  596[aa];  Orientation:+2;  Codon Adaptation Index (CAI). 0.697

PVMIREFQTLETKLLQCHTPLLTSIIQGYKTSVEVSCLRIQNVTVFTKNP LSEVIHLLMHRGLSAVKSWARVQFQKKSLQMEHRIQDQLNKKKNELRDST EQFQEYYRQRLRYQQHLEQKEQQRQIYQQMLLEGGVNQEDGPDQQQNLTE QFLNRSIQKLGELNIGMDGLGNEVSALNQQCNGSKGNGSNGSSVTSFTTP PQDSSQRLTHDASNIHTSTPRNPGSTNHIPFLEESPCGSQISSEHSVIKP PLGDSPGSLSRSKGEEDDKSKKQFVCINILEDTQAVRAVAFHPAGGLYAV GSNSKTLRVCAYPDVIDPSAHETPKQPVVRFKRNKHHKGSIYCVAWSPCG QLLATGSNDKYVKVLPFNAETCNATGPDLEFSMHDGTIRDLAFMEGPESG GAILISAGAGDCNIYTTDCQRGQGLHALSGHTGHILALYTWSGWMIASGS QDKTVRFWDLRVPSCVRVVGTTFHGTGSAVASVAVDPSGRLLATGQEDSS CMLYDIRGGRMVQSYHPHSSDVRSVRFSPGAHYLLTGSYDMKIKVTDLQG DLTKQLPIMVVGEHKDKVIQCRWHTQDLSFLSSSADRTVTLWTYNG*

Motif information

	a.a. length	InterPro	Name
	39	IPR001680	WD40 repeat [Repeat]
	315	IPR015943	WD40/YVTN repeat-like-containing domain [Domain]
	27	IPR019781	WD40 repeat, subgroup [Repeat]
	311	IPR011046	WD40 repeat-like-containing domain [Domain]
	43	IPR001680	WD40 repeat [Repeat]
	31	IPR019782	WD40 repeat 2 [Repeat]
	263	IPR017986	WD40-repeat-containing domain [Domain]
	30	IPR019781	WD40 repeat, subgroup [Repeat]
	45	IPR001680	WD40 repeat [Repeat]
	39	IPR001680	WD40 repeat [Repeat]
	37	IPR019781	WD40 repeat, subgroup [Repeat]
	41	IPR019782	WD40 repeat 2 [Repeat]
	15	IPR019775	WD40 repeat, conserved site [Conserved_site]
	40	IPR001680	WD40 repeat [Repeat]
	35	IPR019781	WD40 repeat, subgroup [Repeat]
	42	IPR019782	WD40 repeat 2 [Repeat]
	40	IPR001680	WD40 repeat [Repeat]
	34	IPR019781	WD40 repeat, subgroup [Repeat]
	35	IPR019782	WD40 repeat 2 [Repeat]
	40	IPR001680	WD40 repeat [Repeat]
	35	IPR019781	WD40 repeat, subgroup [Repeat]
	36	IPR019782	WD40 repeat 2 [Repeat]

Gene function information

H-Inv ID		HIT000384911
H-Inv cluster ID		HIX0199788
Accession number		AK225781.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;  Splicing isoform
Coding potential		Protein coding;
Definition		WD repeat-containing protein 47 isoform 1.
Similarity category		Category: Identical to known human protein(Category I).
		Identical to known human protein (NP_001136022)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Experimental evidence		Protein evidence
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	WDR47
	HGNC aliases	NA
	HGNC name	WD repeat domain 47
	DDBJ	NA
	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	HIP000353499
	No. of interaction	NA
	Interaction partner(s)	NA
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NM_014969;  NM_001142550;  NM_001142551;
	Ensembl	ENST00000357672;  ENST00000361054;  ENST00000369962;  ENST00000369965;  ENST00000400794;  ENST00000528747;  ENST00000529074;  ENST00000530772;  ENST00000531337;
	Entrez Gene	Entrez Gene ID:22911;
	KEGG GENES	KEGG GENES(22911);
	GeneCard	WDR47;  *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

Subcellular localization information

Last modified:20-Apr-2012

WoLF PSORT	nuclear;  cytosol;
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 13 76 1uujA 3e-11 19.7 61/76 a.221.1.1 602 923 1nr0A1 4e-29 16.2 296/311 b.69.4.1

Related H-InvDB links GTOP

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:  115665;  116600;  155600;  600975;  605225;  605606;  606788;  606852;  606928;  607317;  607671;  608543;  608553;  608995;  610320;  612367;  612596;
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(22911)
	Disease	Entrez Gene ID:(22911)
	Substance	Entrez Gene ID:(22911)
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 334 .. 334 T/C rs112410635 - 5'UTR 394 .. 394 C/T rs55730953 - 5'UTR 1328 .. 1328 A/G rs79997809 - CDS Nonsynonymous[Lys67Glu] 1764 .. 1764 C/T rs113434051 - CDS Nonsynonymous[Ala212Val] 2017 .. 2017 T/C rs41299563 - CDS Synonymous[Gly296Gly] 2366 .. 2366 A/C rs1538137 - CDS Nonsynonymous[Asn413His] 2380 .. 2380 C/T rs76370963 - CDS Synonymous[Thr417Thr] 2418 .. 2418 G/T rs74576781 - CDS Nonsynonymous[Gly430Val] 2715 ^ 2716 -/C rs35988108 - CDS 3282 .. 3282 T/G rs112609892 - 3'UTR 3475 .. 3475 A/G rs507776 - 3'UTR 3693 .. 3693 T/A rs114053618 - 3'UTR 3698 .. 3698 T/C rs11803800 - 3'UTR 4118 .. 4118 G/C rs12068536 - 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;