H-InvDB_9.0 released on May 27, 2015. 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: HIT000038083 Accession number: BC017699 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Gamma-secretase subunit APH-1A isoform 2.

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Transcript original information Accession number BC017699.1 CAGE tag ID NA EST ID NA Clone Number MGC:21097 IMAGE:4177580 Experimental resources   NBRC ; HGPD ; Antibody (APH1A) ; Catalog (APH1A); Sequence data provider Provider:MGC/NCI;  Annotation project H-Invitational FLcDNA Length of cDNA 2010[bp] (No. of exon:6)[A:350 T:562 G:541 C:557] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type Brain, anaplastic oligodendroglioma with 1p/19q loss Develpmental stage NA

Sequence quality information CDS feature Complete CDS Kozak sequence NA PolyA Site: 1996(+) Signal: 1979-1983(+) Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) NA Transcript quality feature Truncation;  Notes NA

CGGGGTCTGGGGGTGACATTGCACCGCGCCCCTCGTGGGGTCGCGTTGCC ACCCCACGCGGACTCCCCAGCTGGCGCGCCCCTCCCATTTGCCTGTCCTG GTCAGGCCCCCACCCCCCTTCCCACCTGACCAGCCATGGGGGCTGCGGTG TTTTTCGGCTGCACTTTCGTCGCGTTCGGCCCGGCCTTCGCGCTTTTCTT GATCACTGTGGCTGGGGACCCGCTTCGCGTTATCATCCTGGTCGCAGGGG CATTTTTCTGGCTGGTCTCCCTGCTCCTGGCCTCTGTGGTCTGGTTCATC TTGGTCCATGTGACCGACCGGTCAGATGCCCGGCTCCAGTACGGCCTCCT GATTTTTGGTGCTGCTGTCTCTGTCCTTCTACAGGAGGTGTTCCGCTTTG CCTACTACAAGCTGCTTAAGAAGGCAGATGAGGGGTTAGCATCGCTGAGT GAGGACGGAAGATCACCCATCTCCATCCGCCAGATGGCCTATGTTTCTGG TCTCTCCTTCGGTATCATCAGTGGTGTCTTCTCTGTTATCAATATTTTGG CTGATGCACTTGGGCCAGGTGTGGTTGGGATCCATGGAGACTCACCCTAT TACTTCCTGACTTCAGCCTTTCTGACAGCAGCCATTATCCTGCTCCATAC CTTTTGGGGAGTTGTGTTCTTTGATGCCTGTGAGAGGAGACGGTACTGGG CTTTGGGCCTGGTGGTTGGGAGTCACCTACTGACATCGGGACTGACATTC CTGAACCCCTGGTATGAGGCCAGCCTGCTGCCCATCTATGCAGTCACTGT TTCCATGGGGCTCTGGGCCTTCATCACAGCTGGAGGGTCCCTCCGAAGTA TTCAGCGCAGCCTCTTGTGTAAGGACTGACTACCTGGACTGATCGCCTGA CAGATCCCACCTGCCTGTCCACTGCCCATGACTGAGCCCAGCCCCAGCCC GGGTCCATTGCCCACATTCTCTGTCTCCTTCTCGTCGGTCTACCCCACTA CCTCCAGGGTTTTGCTTTGTCCTTTTGTGACCGTTAGTCTCTAAGCTTTA CCAGGAGCAGCCTGGGTTCAGCCAGTCAGTGACTGGTGGGTTTGAATCTG CACTTATCCCCACCACCTGGGGACCCCCTTGTTGTGTCCAGGACTCCCCC TGTGTCAGTGCTCTGCTCTCACCCTGCCCAAGACTCACCTCCCTTCCCCT CTGCAGGCCGACGGCAGGAGGACAGTCGGGTGATGGTGTATTCTGCCCTG CGCATCCCACCCGAGGACTGAGGGAACCTAGGGGGGACCCCTGGGCCTGG GGTGCCCTCCTGATGTCCTCGCCCTGTATTTCTCCATCTCCAGTTCTGGA CAGTGCAGGTTGCCAAGAAAAGGGACCTAGTTTAGCCATTGCCCTGGAGA TGAAATTAATGGAGGCTCAAGGATAGATGAGCTCTGAGTTTCTCAGTACT CCCTCAAGACTGGACATCTTGGTCTTTTTCTCAGGCCTGAGGGGGAACCA TTTTTGGTGTGATAAATACCCTAAACTGCCTTTTTTTCTTTTTTGAGGTG GGGGGAGGGAGGAGGTATATTGGAACTCTTCTAACCTCCTTGGGCTATAT TTTCTCTCCTCGAGTTGCTCCTCATGGCTGGGCTCATTTCGGTCCCTTTC TCCTTGGTCCCAGACCTTGGGGGAAAGGAAGGAAGTGCATGTTTGGGAAC TGGCATTACTGGAACTAATGGTTTTAACCTCCTTAACCACCAGCATCCCT CCTCTCCCCAAGGTGAAGTGGAGGGTGCTGTGGTGAGCTGGCCACTCCAG AGCTGCAGTGCCACTGGAGGAGTCAGACTACCATGACATCGTAGGGAAGG AGGGGAGATTTTTTTGTAGTTTTTAATTGGGGTGTGGGAGGGGCGGGGAG GTTTTCTATAAACTGTATCATTTTCTGCTGAGGGTGGAGTGTCCCATCCT TTTAATCAAGGTGATTGTGATTTTGACTAATAAAAAAGAATTTGTAAAAA AAAAAAAAAA

Gene structure information

H-Inv cluster ID		HIX0001015
Genomic location	Chromosome	1
	Location	1q21.2
	Position	150237805- 150241345
	Strand	-
Possible duplicated location(s)		NA
Gene structure		6 exon(s)
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:51107;
	KEGG GENES	KEGG GENES(51107);
	GeneCard	APH1A;  *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 HIP000054603 Predicted CDS 136..879;  247[aa];  Orientation:+1;  Codon Adaptation Index (CAI). 0.742 Database links RefSeq NP_057106;  UniProt NA CCDS CCDS41391;

MGAAVFFGCTFVAFGPAFALFLITVAGDPLRVIILVAGAFFWLVSLLLAS VVWFILVHVTDRSDARLQYGLLIFGAAVSVLLQEVFRFAYYKLLKKADEG LASLSEDGRSPISIRQMAYVSGLSFGIISGVFSVINILADALGPGVVGIH GDSPYYFLTSAFLTAAIILLHTFWGVVFFDACERRRYWALGLVVGSHLLT SGLTFLNPWYEASLLPIYAVTVSMGLWAFITAGGSLRSIQRSLLCKD*

Motif information

	a.a. length	InterPro	Name
	246	IPR009294	Gamma-secretase subunit Aph-1 [Family]
	244	IPR009294	Gamma-secretase subunit Aph-1 [Family]

Gene function information

H-Inv ID		HIT000038083
H-Inv cluster ID		HIX0001015
Accession number		BC017699.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Protein coding;
Definition		Similar to Gamma-secretase subunit APH-1A isoform 2.
Similarity category		Category: Similar to known protein(Category II).
		Similar to known protein (NP_057106)  [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	APH1A
	HGNC aliases	"anterior pharynx defective 1 homolog A (C. elegans)"
	HGNC name	APH1A gamma secretase subunit
	DDBJ	APH1A
	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	HIP000054603
	No. of interaction	1
	Interaction partner(s)	HIP000030029;
	BIND	194759;
	DIP	NA
	MINT	NA
	HPRD	00087;  02860;  05584;  06362;  12013;
	IntAct	NA
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:51107;
	KEGG GENES	KEGG GENES(51107);
	GeneCard	APH1A;  *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

Gene ontology information

Biological process	protein processing (GO:0016485);  positive regulation of enzyme activity (GO:0043085);
Cellular component	integral to membrane (GO:0016021);

Subcellular localization information

Last modified:27-May-2015

WoLF PSORT	plasma membrane;
Target P	signal peptide
SOSUI	membrane protein
TMHMM	membrane 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:27-May-2015

Tissue-specific expression			NA
Probe information	AceGene		AGhsA031107;
	Affymetrix GeneChip	HG-Focus	NA
		HG-U133	NA
		HG-U133A	NA
		HG-U133A_2	NA
		HG-U133B	NA
		HG-U133_Plus_2	1554417_s_at;
		HG-U95	NA
		HG-U95A	NA
		HG-U95B	NA
		HG-U95C	NA
		HG-U95D	NA
		HG-U95E	NA
		HG-U95Av2	NA
		HuEx-1_0	2358116;  2358118;  2434345;  2434346;  2434347;  2434349;  2434351;  2434352;  2434354;  2434355;  2434356;  2434358;  2434359;  2434360;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	A_23_P930;
		Whole Human Genome Oligo Microarray:PGID247	A_23_P930;
Related H-InvDB links			H-ANGEL;  DNAProbeLocator;

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 1 .. 1 C/T rs201500039 - 5'UTR 18 .. 18 A/G rs200566570 - 5'UTR 24 .. 24 C/T rs201956935 - 5'UTR 28 .. 28 G/A rs201145618 - 5'UTR 62 .. 62 A/T rs200412198 - 5'UTR 71 .. 71 C/T rs201855950 - 5'UTR 114 .. 114 C/T rs201013896 - 5'UTR 116 .. 116 C/A rs2275780 - 5'UTR 117 .. 117 C/G rs181092416 - 5'UTR 124 .. 124 A/C rs201108747 - 5'UTR 127 .. 127 T/C rs200128905 - 5'UTR 146 .. 146 C/T rs201630308 - CDS Nonsynonymous[Ala4Val] 164 .. 164 C/T rs11548266 + CDS Nonsynonymous[Thr10Ile] 171 .. 171 C/G rs200745916 - CDS Synonymous[Val12Val] 172 .. 172 G/A rs199961673 - CDS Nonsynonymous[Ala13Thr] 183 .. 183 G/T rs201823216 - CDS Synonymous[Pro16Pro] 186 .. 186 C/T rs112321698 - CDS Synonymous[Ala17Ala] 271 .. 271 C/T rs1132746 + CDS Synonymous[Leu46Leu] 277 .. 277 C/T rs200730753 - CDS Synonymous[Leu48Leu] 286 .. 286 G/A rs199775906 - CDS Nonsynonymous[Val51Met] 387 .. 387 G/A rs201613749 - CDS Synonymous[Glu84Glu] 441 .. 441 A/G rs199977984 - CDS Synonymous[Ala102Ala] 510 .. 510 C/T rs201257450 - CDS Synonymous[Phe125Phe] 645 .. 645 C/T rs202221454 - CDS Synonymous[Leu170Leu] 672 .. 672 T/C rs201620153 - CDS Synonymous[Phe179Phe] 716 .. 716 T/C rs200325781 - CDS Nonsynonymous[Val194Ala] 726 .. 726 C/T rs202029718 - CDS Synonymous[His197His] 735 .. 735 A/T rs201096173 - CDS Synonymous[Thr200Thr] 738 .. 738 G/T rs201219308 - CDS Synonymous[Ser201Ser] 741 .. 741 A/C rs2275778 - CDS Synonymous[Gly202Gly] 742 .. 742 C/T rs201939644 - CDS Synonymous[Leu203Leu] 750 .. 750 C/T rs199803918 - CDS Synonymous[Phe205Phe] 786 .. 786 C/T rs9658939 - CDS Synonymous[Ile217Ile] 813 .. 813 C/T rs9658936 - CDS Synonymous[Leu226Leu] 841 .. 841 C/A rs17849449 - CDS Nonsynonymous[Leu236Ile] 859 .. 859 A/T rs200511495 - CDS Nonsynonymous[Ser242Cys] 889 .. 889 C/A rs199619627 - 3'UTR 909 .. 909 A/C rs201680381 - 3'UTR 925 .. 925 C/G rs200520312 - 3'UTR 928 .. 928 A/G rs199525322 - 3'UTR 951 .. 951 G/T rs11548265 + 3'UTR 977 .. 977 C/G rs201312925 - 3'UTR 984 .. 984 G/T rs200341358 - 3'UTR 987 .. 987 G/A rs202129693 - 3'UTR 999 .. 999 T/A rs201197613 - 3'UTR 1033 .. 1033 G/A rs200328242 - 3'UTR 1102 .. 1102 A/G rs11548267 + 3'UTR 1105 .. 1105 T/G rs201254525 - 3'UTR 1115 .. 1115 A/C rs200103315 - 3'UTR 1136 .. 1136 G/T rs201320142 - 3'UTR 1142 .. 1142 G/A rs200787005 - 3'UTR 1143 .. 1143 A/G rs200019445 - 3'UTR 1147 .. 1147 C/G rs201541795 - 3'UTR 1152 .. 1152 G/C rs200707145 - 3'UTR 1156 .. 1156 C/T rs199517322 - 3'UTR 1180 .. 1180 A/G rs201687616 - 3'UTR 1208 .. 1208 C/G rs74126634 - 3'UTR 1228 .. 1228 G/C/A rs71622685 - 3'UTR 1230 .. 1230 G/A rs201553051 - 3'UTR 1286 .. 1286 G/A rs200240863 - 3'UTR 1311 .. 1311 T/A rs199646767 - 3'UTR 1321 .. 1321 G/A rs201411127 - 3'UTR 1374 .. 1374 G/A rs200528248 - 3'UTR 1421 .. 1421 G/C rs202091565 - 3'UTR 1444 .. 1444 C/G rs201035904 - 3'UTR 1445 .. 1445 A/G rs200432613 - 3'UTR 1519 .. 1519 C/T rs201855910 - 3'UTR 1521 .. 1521 C/A rs201013519 - 3'UTR 1522 .. 1522 T/C rs199926282 - 3'UTR 1528 .. 1528 G/T rs201754927 - 3'UTR 1548 .. 1548 G/T rs201261520 - 3'UTR 1550 .. 1550 G/T/C rs189623935 - 3'UTR 1552 .. 1552 G/T rs201818552 - 3'UTR 1562 .. 1562 G/A rs200654934 - 3'UTR 1611 .. 1611 C/T rs199961462 - 3'UTR 1620 .. 1620 C/G rs201826227 - 3'UTR 1635 .. 1635 C/T rs200779875 - 3'UTR 1640 .. 1640 C/T/G rs184760849 - 3'UTR 1641 .. 1641 G/A rs145520277 - 3'UTR 1704 .. 1704 C/T rs141869795 - 3'UTR 1726 .. 1726 A/T rs199703472 - 3'UTR 1748 .. 1748 C/T rs201778614 - 3'UTR 1750 .. 1750 T/C rs200242333 - 3'UTR 1763 .. 1763 G/C rs201790284 - 3'UTR 1785 .. 1785 G/A rs201164589 - 3'UTR 1794 .. 1794 A/G rs200373203 - 3'UTR 1810 .. 1810 G/A rs201624411 - 3'UTR 1832 .. 1832 C/T rs201040334 - 3'UTR 1834 .. 1834 T/A rs200032971 - 3'UTR 1841 .. 1841 G/A rs202107491 - 3'UTR 1855 .. 1855 G/A rs201358832 - 3'UTR 1859 .. 1859 T/C rs192534646 - 3'UTR 1868 .. 1868 A/T rs3209394 + 3'UTR 1869 .. 1869 G/T rs3209395 + 3'UTR 1882 .. 1882 G/C rs200690018 - 3'UTR 1895 .. 1895 G/A rs200102444 - 3'UTR 1973 .. 1973 T/C rs202078358 - 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;