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: HIT000293534 Accession number: CR614339 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Coiled-coil domain-containing protein 127.

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

Transcript original information Accession number CR614339.1 CAGE tag ID NA EST ID NA Clone Number CS0DI052YI02 Experimental resources   NBRC ; HGPD ; Antibody (CCDC127) ; Catalog (CCDC127); Sequence data provider NA Annotation project NA Length of cDNA 1057[bp] (No. of exon:3)[A:285 T:229 G:288 C:255] Devision HTC Molecular type mRNA Library origin Cell type NA Tissue type Placenta Cot 25-normalized 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 NA Notes NA

GGGAACGCTGAGGTCCCGCGCTCCCCGACCGAGGTATATCTCCATGAATA ACCTAAATGATCCCCCAAATTGGAATATCCGGCCTAATTCCAGGGCGGAT GGTGGTGATGGAAGCAGGTGGAATTATGCCCTGTTGGTTCCAATGCTGGG ATTGGCTGCTTTTCGTTGGATTTGGTCTAGGGAGTCCCAGAAAGAAGTAG AAAAAGAGAGAGAAGCCTACCGTCGGAGAACTGCTGCTTTTCAACAGGAT CTGGAAGCCAAGTACCACGCCATGATCTCAGAAAATCGGCGTGCTGTCGC TCAGTTGTCCTTGGAACTCGAAAAGGAACAAAACAGAACTGCTAGTTACC GAGAAGCCCTTATCTCTCAGGGACGCAAGTTGGTAGAAGAAAAGAAGCTT CTGGAACAGGAACGGGCCCAGGTGATGCAAGAAAAAAGACAGGTGCAGCC TTTGAGAAGTGCGTATTTGAGCTGCCTGCAAAGGGAAGAAAACTGGCAAA GGAGAGCCAGGCTTTTGCTGAAAGAATTTGAAGCTGTTCTCACAGAAAGA CAGAATATCTACTGCAGTCTGTTTCTTCCTCGCAGCAAGCGGCTGGAGAT AGAGAAGAGCTTACTGGTGCGAGCGTCCGTCGACCCCGTCGCCGCTGACC TAGAGATGGCAGCCGGTCTCACCGACATATTTCAGCATGATACATACTGT GGTGATGTCTGGAACACCAACAAACGCCAGAATGGCAGACTCATGTGGCT CTATCTCAAATACTGGGAACTCGTTGTCGAACTGAAGAAGTTTAAGAGAG TAGAGGAAGCCATACTAGAAAAGTAAGACAAGAGTGAAATCAAACTGCTT TTAGTGACTCGAGGCCAGGCAGTCATGCGCCTTCTGGGTCTCCGGCGTCT TCCGTTCCCGTGCTGCCCGTGTCATGGCCACACCGTCACCCTTCAGCAGC GACCTCCACTCCCGCCACCGTCTGAGCAGAAGTGCACCGAAGCCTCAGAG ACAGAGGGTCTCCTCCCGATGCTCTGCCGCTGTTGGGGATATGGTTTCTT GAAGCAT

Gene structure information

H-Inv cluster ID		HIX0004697
Genomic location	Chromosome	5
	Location	5p15.33
	Position	205181- 218240
	Strand	-
Possible duplicated location(s)		NA
Gene structure		3 exon(s)
Database links	RefSeq	NM_145265;
	Ensembl	ENST00000296824;  ENST00000509920;
	Entrez Gene	Entrez Gene ID:133957;
	KEGG GENES	KEGG GENES(133957);
	GeneCard	CCDC127;  *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 HIP000080907 Predicted CDS 44..826;  260[aa];  Orientation:+2;  Codon Adaptation Index (CAI). 0.734 Database links RefSeq NP_660308;  UniProt Q96BQ5;  CCDS CCDS3852;

MNNLNDPPNWNIRPNSRADGGDGSRWNYALLVPMLGLAAFRWIWSRESQK EVEKEREAYRRRTAAFQQDLEAKYHAMISENRRAVAQLSLELEKEQNRTA SYREALISQGRKLVEEKKLLEQERAQVMQEKRQVQPLRSAYLSCLQREEN WQRRARLLLKEFEAVLTERQNIYCSLFLPRSKRLEIEKSLLVRASVDPVA ADLEMAAGLTDIFQHDTYCGDVWNTNKRQNGRLMWLYLKYWELVVELKKF KRVEEAILEK*

Gene function information

H-Inv ID		HIT000293534
H-Inv cluster ID		HIX0004697
Accession number		CR614339.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Protein coding;
Definition		Coiled-coil domain-containing protein 127.
Similarity category		Category: Identical to known human protein(Category I).
		Identical to known human protein (NP_660308)  [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	CCDC127
	HGNC aliases	NA
	HGNC name	coiled-coil domain containing 127
	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	HIP000080907
	No. of interaction	4
	Interaction partner(s)	HIP000027438;  HIP000040806;  HIP000059940;  HIP000106438;
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	05679;  10293;
	IntAct	EBI-3915837;  EBI-2115794;  EBI-3915827;  EBI-3907211;
Database links	RefSeq	NM_145265;
	Ensembl	ENST00000296824;  ENST00000509920;
	Entrez Gene	Entrez Gene ID:133957;
	KEGG GENES	KEGG GENES(133957);
	GeneCard	CCDC127;  *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	cytosol;  nuclear;  mitochondria;
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: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	NA
		HG-U95	NA
		HG-U95A	NA
		HG-U95B	NA
		HG-U95C	NA
		HG-U95D	NA
		HG-U95E	NA
		HG-U95Av2	NA
		HuEx-1_0	2845279;
		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:  601888;  608850;  611091;  612554;  612571;
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(133957)
	Disease	Entrez Gene ID:(133957)
	Substance	Entrez Gene ID:(133957)
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 15 .. 15 C/T rs114533164 - 5'UTR 70 .. 70 T/G rs111336094 - CDS Nonsynonymous[Asn9Lys] 97 .. 97 G/A rs58063015 + CDS Synonymous[Ala18Ala] 159 .. 159 C/A rs113934326 + CDS Nonsynonymous[Ala39Asp] 222 .. 222 G/A rs11557427 + CDS Nonsynonymous[Arg60His] 555 .. 555 A/G rs76084471 - CDS Nonsynonymous[Asn171Ser] 664 .. 664 C/T rs73730755 - CDS Synonymous[Ala207Ala] 673 .. 673 C/T rs10060089 - CDS Synonymous[Thr210Thr] 707 .. 707 G/A rs111313795 - CDS Nonsynonymous[Val222Ile] 737 .. 737 A/G rs112338445 - CDS Nonsynonymous[Arg232Gly] 878 .. 878 C/G rs10059907 - 3'UTR 918 .. 918 C/T rs6884639 - 3'UTR 988 .. 988 C/T rs7720369 - 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;