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: HIT000502734 Accession number: BC144311 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Similar to Uncharacterized protein; Fragment;

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

Transcript original information Accession number BC144311.1 CAGE tag ID NA EST ID NA Clone Number MGC:177848 IMAGE:9052831 Experimental resources   NBRC ; HGPD ; Antibody (C9orf173) ; Catalog (C9orf173); Sequence data provider NA Annotation project NA Length of cDNA 1025[bp] (No. of exon:6)[A:207 T:173 G:276 C:369] 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 NA Notes NA

TTGGGGAAGAGAGCCAGGAGACTCTGATGATGAATTCTGACCAGAAGGCA GTGAAATTCCTGGCAAATTTTTACATCAATGGAGGCAAACACTGGACCCA TGGTCACCTGAGGCAGACACAACCAGAGCCCACCCAGCCCAAGGCATCTG TGCTGTTGTTGGGCCCGGAGCCGGGGATGGCCTGGGATGAGACACAGCCC CCAAAGATGAAGGAGATCCCAGTTGGCCTCAGGTTACAGACGGGCACCCC CCAGGAGTCCCTGCCCACCTACACCCAGACCCTGAGGGAACTATTGCTGG AGCAACGCCCCCTGATCACAGCTGACCTGGAAGTCCCCAGCCCCACCAGG TACCAGGTGCCGAGCCCGTCCGTACGAGAGTCCTCCCCACACCCCCACTA CAGCATCGGCTGCAAGCACCAGGGCCGAGAGGGCGGTGGCCGCAGGGCAT GGCAGACTTTGTGGTTCCAGAGTGAAAGCCCCTTCACGCAGAAAGCTGAC TTCGACCAAGAGCAAAAGGCCTCTTTGCAGGCACCTGGCAAGAGATGCCC TGGCCCCAACACCTACAATATCCTTCCTGGGAGCCGCCTGCAGAGCCCCC GCTCGCCGGCCTTCTCGATGAGCCGCTCCCCTGCGTTCACCTCCTGGCTC AGCACCTCCCGAACCCCTGGCCCAGCCGCCTACCACGTGGAGGACTGCAA CTCACGCTTCCCTTCGGCGCCTGGCGTGGTCATCCAGGGTGTACGCAGAC CCAAGCGCCACGACACAGGCCCCTTCTGCACGCTCTAGAGCCAGCTGGGC ACAACCTGCTTGGCCCGGCCACCGAGTGGAACCATGGCCTCCCCCGGGGC TTTCCCAGGCCTCCCCTGGGACTTGGGGCCCCAGCCTGGCCTTCTGACCC TCTGGGCACCCCGATGCACCCTTCTGGCTGGCCAACCCTTCTATGGGCTG TGGACAAGGCTGGCCCAGCCTGGATCCCCCATCTGCCCATCTCCCCGCTA CACTGAGATGCTGTTGGTTTTCCCG

Gene structure information

H-Inv cluster ID		HIX0023439
Genomic location	Chromosome	9
	Location	9q34.3
	Position	140145713- 140147934
	Strand	+
Possible duplicated location(s)		NA
Gene structure		6 exon(s)
Database links	RefSeq	NM_001004353;
	Ensembl	ENST00000388931;  ENST00000412566;  ENST00000416962;
	Entrez Gene	Entrez Gene ID:441476;
	KEGG GENES	KEGG GENES(441476);
	GeneCard	C9orf173;  *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 HIP000259334 Predicted CDS 27..788;  253[aa];  Orientation:+3;  Codon Adaptation Index (CAI). 0.8 Database links RefSeq NA UniProt B7ZM74;  CCDS NA

MMNSDQKAVKFLANFYINGGKHWTHGHLRQTQPEPTQPKASVLLLGPEPG MAWDETQPPKMKEIPVGLRLQTGTPQESLPTYTQTLRELLLEQRPLITAD LEVPSPTRYQVPSPSVRESSPHPHYSIGCKHQGREGGGRRAWQTLWFQSE SPFTQKADFDQEQKASLQAPGKRCPGPNTYNILPGSRLQSPRSPAFSMSR SPAFTSWLSTSRTPGPAAYHVEDCNSRFPSAPGVVIQGVRRPKRHDTGPF CTL*

Gene function information

H-Inv ID		HIT000502734
H-Inv cluster ID		HIX0023439
Accession number		BC144311.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;  Splicing isoform
Coding potential		Protein coding;
Definition		Similar to Uncharacterized protein; Fragment;
Similarity category		Category: Similar to known protein(Category II).
		Similar to known protein (F1Q038)  [Identity/coverage = 74.79%/93.96%] to Canis familiaris (Dog) (Canis lupus familiaris). protein.
Experimental evidence		Protein evidence
PubMed ID		16341006;  ALL;
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	C9orf173
	HGNC aliases	NA
	HGNC name	chromosome 9 open reading frame 173
	DDBJ	LOC441476
	UniProt	C9orf173
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	HIP000259334
	No. of interaction	1
	Interaction partner(s)	HIP000250844;
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	EBI-2429019;  EBI-2421350;
Database links	RefSeq	NM_001004353;
	Ensembl	ENST00000388931;  ENST00000412566;  ENST00000416962;
	Entrez Gene	Entrez Gene ID:441476;
	KEGG GENES	KEGG GENES(441476);
	GeneCard	C9orf173;  *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;  golgi apparatus;
Target P	Other
SOSUI	soluble protein
TMHMM	soluble protein
PTS1	Twilight zone
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:  156240;  606613;  610438;
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(441476)
	Disease	Entrez Gene ID:(441476)
	Substance	Entrez Gene ID:(441476)
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 217 ^ 218 -/C rs36019480 + CDS 368 .. 368 G/A rs74822962 + CDS Synonymous[Pro114Pro] 402 .. 402 A/G rs28657439 + CDS Nonsynonymous[Ser126Gly] 434 .. 434 C/T rs111927058 + CDS Synonymous[Gly136Gly] 442 .. 442 G/A rs73668205 + CDS Nonsynonymous[Arg139His] 504 .. 504 G/C rs112726953 + CDS Nonsynonymous[Asp160His] 856 .. 856 C/T rs1134511 + 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;