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: HIT000261801 Accession number: BC065238 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to Protein enabled homolog isoform a.

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

Transcript original information Accession number BC065238.1 CAGE tag ID NA EST ID NA Clone Number IMAGE:6166022 Experimental resources   NBRC ; HGPD ; Antibody (ENAH) ; Catalog (ENAH); Sequence data provider NA Annotation project NA Length of cDNA 2286[bp] (No. of exon:13)[A:748 T:479 G:543 C:516] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type Skin, melanotic melanoma. Develpmental stage NA

Sequence quality information CDS feature N-truncated Kozak sequence NA PolyA Site: 2272(+) Signal: 2244-2248(+) Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) TAGGAG;  Transcript quality feature Truncation;  Notes NA

AACACATTCAGAGTGGTGGGCAGGAAGATTCAGGACCATCAGGTCGTGAT AAACTGTGCCATTCCTAAAGGGTTGAAGTACAATCAAGCTACACAGACCT TCCACCAGTGGCGAGATGCTAGACAGGTGTATGGTCTCAACTTTGGCAGC AAAGAGGATGCCAATGTCTTCGCAAGTGCCATGATGCATGCCTTAGAAGT GTTAAATTCACAGGAAACAGGGCCAACATTGCCTAGACAAAACTCACAAC TACCTGCTCAAGTTCAAAATGGCCCATCCCAAGAAGAATTGGAAATTCAA AGAAGACAACTACAAGAACAGCAACGGCAAAAGGAGCTGGAGCGGGAAAG GCTGGAGCGAGAAAGAATGGAAAGAGAAAGGTTGGAGAGAGAGAGGTTAG AAAGGGAAAGGCTGGAGAGGGAGCGACTGGAACAAGAACAGCTGGAGAGA GAGAGACAAGAACGGGAACGGCAGGAACGCCTGGAGCGGCAGGAACGCCT GGAGCGGCAGGAACGCCTGGAGCGGCAGGAACGCCTGGATCGGGAGAGGC AAGAAAGACAAGAACGAGAGAGGCTGGAGAGACTGGAACGGGAGAGGCAA GAAAGGGAGCGACAAGAGCAGTTAGAAAGGGAACAGCTGGAATGGGAGAG AGAGCGCAGAATATCAAGTGCTGCTGCCCCTGCCTCTGTTGAGACTCCTC TAAACTCTGTGCTGGGAGACTCTTCTGCTTCTGAGCCAGGCTTGCAGGCA GCCTCTCAGCCGGCCGAGACTCCATCCCAACAGGGCATTGTCTTGGGACC ACTTGCACCTCCACCTCCTCCACCACTCCCACCAGGGCCTGCACAGGCTT CAGTAGCCCTCCCTCCTCCCCCAGGGCCCCCTCCACCTCCTCCACTCCCA TCCACCGGGCCTCCACCGCCCCCTCCTCCCCCTCCTCTCCCTAATCAAGT ACCCCCTCCTCCTCCACCACCTCCTGCCCCACCCCTCCCTGCATCTGGAT TCTTTTTGGCATCCATGTCAGAAGACAATCGCCCTTTAACTGGACTTGCA GCTGCAATTGCCGGAGCAAAACTTAGGAAAGTGTCACGGATGGAGGATAC CTCTTTCCCAAGTGGAGGGAATGCTATTGGTGTGAACTCCGCCTCATCTA AAACAGATACAGGCCGTGGAAATGGACCCCTTCCTTTAGGGGGTAGTGGT TTAATGGAAGAAATGAGTGCCCTGCTGGCCAGGAGGAGAAGAATTGCTGA AAAGGGATCAACAATAGAAACAGAACAAAAAGAGGACAAAGGTGAAGATT CAGAGCCTGTAACTTCTAAGGCCTCTTCAACAAGTACACCTGAACCAACA AGAAAACCTTGGGAAAGAACAAATACAATGAATGGCAGCAAGTCACCTGT TATCTCCAGACCAAAATCCACACCCTTATCACAGCCCAGTGCCAATGGAG TCCAGACGGAAGGACTTGACTATGACAGGCTGAAGCAGGACATTTTAGAT GAAATGAGAAAAGAATTAACAAAGCTAAAAGAAGAGCTCATTGATGCAAT CAGGCAGGAACTGAGCAAGTCAAATACTGCATAGAGGAACAGACTAAGGA GAGATAGGACTTTAATCTGGAGGAAAAATATCCTACAAACAACAACTGTT CACAACAGCAAACCCCTACATTTATGAGCTGTAAGAAGAAAATGGAGACA AACAGAAGGAGGGAAAAACCAACCTACTCTGAAAGCCTTCAGACATTATG ACTCTGGTGATAAGCTCTTTCCCTCTCCGTTTGCTGCTTTTTTCTGGCCT TTACAACAGAATGGAAGAGAATCATTTAAGAGTTCCTGTAACAGTTATGC AGAAAATACTAAAACCCATCAGGCAAGATCACCACGCATTGAAATATTTT CATATCAAGATAAAGTCGCACATTTTCCACAATACATTGCTAAAATAAAG AGGAGAAAGGCTTAGGAAGTTTTTTTGCAGAGAGTGCTGGTAAAGAATTG AGCAAGTTTGCTATTGTATTGTAATGTTTCTCTCAGGTTTGTTCTTCCTA TCATGTTTGATATTCCATGAATAATTGAGATCAGCCCTATGTAAGTTAAG ATCATAATATGTGGAACAAATGGAATTGTAAGTGCTTTCAAAGGGTAATA TTTATAAGAAAGTGTCCGAAAAATGTTTCTTCAGCTTGAGAAATTTTAGA ATGATAGGAAGTTTCTCGAGTTAGCCTTCATGCAATTTTGTAGATTAAAA CATAAAATTTGTCCAGAACTTAAAAAAAAAAAAAAA

Gene structure information

H-Inv cluster ID		HIX0001634
Genomic location	Chromosome	1
	Location	1q42.12
	Position	225684789- 225754992
	Strand	-
Possible duplicated location(s)		NA
Gene structure		13 exon(s)
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:55740;
	KEGG GENES	KEGG GENES(55740);
	GeneCard	ENAH;  *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 HIP000118283 Predicted CDS 1..1584;  527[aa];  Orientation:+1;  Codon Adaptation Index (CAI). 0.743

NTFRVVGRKIQDHQVVINCAIPKGLKYNQATQTFHQWRDARQVYGLNFGS KEDANVFASAMMHALEVLNSQETGPTLPRQNSQLPAQVQNGPSQEELEIQ RRQLQEQQRQKELERERLERERMERERLERERLERERLERERLEQEQLER ERQERERQERLERQERLERQERLERQERLDRERQERQERERLERLERERQ ERERQEQLEREQLEWERERRISSAAAPASVETPLNSVLGDSSASEPGLQA ASQPAETPSQQGIVLGPLAPPPPPPLPPGPAQASVALPPPPGPPPPPPLP STGPPPPPPPPPLPNQVPPPPPPPPAPPLPASGFFLASMSEDNRPLTGLA AAIAGAKLRKVSRMEDTSFPSGGNAIGVNSASSKTDTGRGNGPLPLGGSG LMEEMSALLARRRRIAEKGSTIETEQKEDKGEDSEPVTSKASSTSTPEPT RKPWERTNTMNGSKSPVISRPKSTPLSQPSANGVQTEGLDYDRLKQDILD EMRKELTKLKEELIDAIRQELSKSNTA*

Motif information

	a.a. length	InterPro	Name
	71	IPR011993	Pleckstrin homology-like domain [Domain]
	68	IPR000697	WH1/EVH1 domain [Domain]
	64	IPR000697	WH1/EVH1 domain [Domain]
	40	IPR014885	VASP tetramerisation [Domain]

Gene function information

H-Inv ID		HIT000261801
H-Inv cluster ID		HIX0001634
Accession number		BC065238.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Protein coding;
Definition		Similar to Protein enabled homolog isoform a.
Similarity category		Category: Similar to known protein(Category II).
		Similar to known protein (NP_001008493)  [Identity/coverage = 100.0%/92.72%] 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	ENAH
	HGNC aliases	NA
	HGNC name	enabled homolog (Drosophila)
	DDBJ	ENAH
	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	HIP000118283
	No. of interaction	19
	Interaction partner(s)	HIP000025343;  HIP000036762;  HIP000044569;  HIP000054668;  HIP000056827;  HIP000075209;  HIP000076468;  HIP000078908;  HIP000090580;  HIP000101738;  HIP000102727;  HIP000103628;  HIP000123963;  HIP000129552;  HIP000172266;  HIP000176774;  HIP000256266;  HIP000257878;  HIP000349910;
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:55740;
	KEGG GENES	KEGG GENES(55740);
	GeneCard	ENAH;  *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:27-May-2015

WoLF PSORT	mitochondria;  cytosol;  peroxisome;  Other;
Target P	Not predicted
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:27-May-2015

Tissue-specific expression			NA
Probe information	AceGene		AGhsA250219;  AGhsB130401;  AGhsB200916;
	Affymetrix GeneChip	HG-Focus	NA
		HG-U133	228553_at;
		HG-U133A	NA
		HG-U133A_2	NA
		HG-U133B	228553_at;
		HG-U133_Plus_2	1553672_at;  228553_at;
		HG-U95	44597_at;  75549_at;  81075_at;
		HG-U95A	NA
		HG-U95B	44597_at;
		HG-U95C	NA
		HG-U95D	75549_at;
		HG-U95E	81075_at;
		HG-U95Av2	NA
		HuEx-1_0	2382857;  2458364;  2458365;  2458367;  2458371;  2458372;  2458378;  2458380;  2458381;  2458382;  2458383;  2458384;  2458385;  2458386;  2458389;  2458390;  2458397;  2458398;  2458399;  2458400;  2458401;  2458406;  2458416;  2657925;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	A_23_P337767;
		Whole Human Genome Oligo Microarray:PGID247	A_23_P337767;
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 164 .. 164 A/G rs141332414 - CDS Nonsynonymous[Asn55Ser] 189 .. 189 T/C rs146464464 - CDS Synonymous[His63His] 273 .. 273 C/T rs139065275 - CDS Synonymous[Gly91Gly] 300 .. 300 A/G rs148691501 - CDS Synonymous[Gln100Gln] 337 .. 337 C/A rs201023360 - CDS Nonsynonymous[Leu113Met] 344 .. 344 G/A rs143642798 - CDS Nonsynonymous[Arg115Gln] 504 .. 504 G/A rs201432124 - CDS Synonymous[Glu168Glu] 514 .. 514 C/T rs138096201 - CDS Nonsynonymous[Arg172Cys] 515 .. 515 G/A rs149587286 - CDS Nonsynonymous[Arg172His] 522 .. 522 G/A rs140432837 - CDS Synonymous[Glu174Glu] 532 .. 532 C/T rs148381397 - CDS Nonsynonymous[Arg178Cys] 540 .. 540 T/A rs2785204 - CDS Nonsynonymous[Asp180Glu] 541 .. 541 C/T rs141364661 - CDS Nonsynonymous[Arg181Trp] 565 .. 565 C/G rs200650081 - CDS Nonsynonymous[Arg189Gly] 588 .. 588 A/T rs201461224 - CDS Nonsynonymous[Glu196Asp] 589 .. 589 C/T rs142024814 - CDS Nonsynonymous[Arg197Trp] 608 .. 608 A/G rs199518908 - CDS Nonsynonymous[Glu203Gly] 630 .. 630 G/A rs1340868 - CDS Synonymous[Arg210Arg] 647 .. 647 A/G rs201871225 - CDS Nonsynonymous[Glu216Gly] 665 .. 665 C/T rs150540046 - CDS Nonsynonymous[Ser222Leu] 701 .. 701 T/C rs147227325 - CDS Nonsynonymous[Leu234Pro] 761 .. 761 C/T rs147401807 - CDS Nonsynonymous[Pro254Leu] 772 .. 772 C/G rs143810413 - CDS Nonsynonymous[Pro258Ala] 799 .. 799 C/T rs200278281 - CDS Nonsynonymous[Pro267Ser] 809 .. 809 C/T rs149359910 - CDS Nonsynonymous[Pro270Leu] 813 .. 813 A/C rs145188989 - CDS Synonymous[Pro271Pro] 928 .. 928 C/G rs201016572 - CDS Nonsynonymous[Pro310Ala] 1047 .. 1047 T/G rs112734185 - CDS Synonymous[Leu349Leu] 1063 .. 1063 G/A rs143052362 - CDS Nonsynonymous[Gly355Arg] 1064 .. 1064 G/A rs145797306 - CDS Nonsynonymous[Gly355Glu] 1096 .. 1096 G/A rs151173302 - CDS Nonsynonymous[Asp366Asn] 1100 .. 1100 C/A rs149039693 - CDS Nonsynonymous[Thr367Asn] 1127 .. 1127 T/C rs75136619 - CDS Nonsynonymous[Ile376Thr] 1190 .. 1190 G/C rs139773212 - CDS Nonsynonymous[Gly397Ala] 1224 .. 1224 G/C rs147843407 - CDS Synonymous[Leu408Leu] 1256 .. 1256 G/A rs150858944 - CDS Nonsynonymous[Gly419Glu] 1262 .. 1262 C/A rs75986582 - CDS Nonsynonymous[Thr421Lys] 1263 .. 1263 A/G rs141466987 - CDS Synonymous[Thr421Thr] 1274 .. 1274 A/G rs113271908 - CDS Nonsynonymous[Glu425Gly] 1276 .. 1276 C/G rs77211786 - CDS Nonsynonymous[Gln426Glu] 1284 .. 1284 G/A rs146063337 - CDS Synonymous[Glu428Glu] 1345 .. 1345 C/T rs189813142 - CDS Nonsynonymous[Pro449Ser] 1401 .. 1401 T/A rs143799748 - CDS Synonymous[Val467Val] 1403 .. 1403 T/C rs149413176 - CDS Nonsynonymous[Ile468Thr] 1457 .. 1457 C/T rs141150172 - CDS Nonsynonymous[Thr486Met] 1525 .. 1525 C/T rs11556772 + CDS Synonymous[Leu509Leu] 1527 .. 1527 A/C rs144474730 - CDS Synonymous[Leu509Leu] 1544 .. 1544 A/G rs113170551 - CDS Nonsynonymous[Asp515Gly] 1579 .. 1579 G/A rs114476062 - CDS Nonsynonymous[Ala527Thr] 1588 .. 1588 A/G rs17501138 - 3'UTR 1607 .. 1607 G/T rs184878811 - 3'UTR 1758 .. 1758 T/A rs149348028 - 3'UTR 1806 .. 1806 A/T rs1054019 + 3'UTR 1825 .. 1825 T/C rs192876284 - 3'UTR 1886 .. 1886 G/A rs188405610 - 3'UTR 2070 .. 2070 A/G rs11556773 + 3'UTR 2089 .. 2089 A/G rs74147001 - 3'UTR 2191 .. 2191 A/G rs17560215 - 3'UTR 2241 .. 2241 T/A rs184404375 - 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;