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: HIT000031599 Accession number: BC003561 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to AP-1 complex subunit sigma-1A; Adapter-related protein complex 1 sigma-1A subunit; Adaptor protein complex AP-1 sigma-1A subunit; Clathrin assembly protein complex 1 sigma-1A small chain; Clathrin coat assembly protein AP19; Golgi adaptor HA1/AP1 adaptin sigma-1A subunit; HA1 19 kDa subunit; Sigma 1a subunit of AP-1 clathrin; Sigma-adaptin 1A; Sigma1A-adaptin;

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

Transcript original information Accession number BC003561.1 CAGE tag ID NA EST ID NA Clone Number MGC:1929 IMAGE:3504050 Experimental resources   NBRC ; HGPD ; Antibody (AP1S1) ; Catalog (AP1S1); Sequence data provider Provider:MGC/NCI;  Annotation project H-Invitational FLcDNA Length of cDNA 958[bp] (No. of exon:5)[A:229 T:233 G:269 C:227] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type Placenta, choriocarcinoma Develpmental stage NA

Sequence quality information CDS feature Complete CDS Kozak sequence NA PolyA Site: 939(+) Signal: 916-920(+) Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) NA Transcript quality feature NA Notes NA

GTGGGACGCGCCGAGCCGGAGGCTGCAGGATGATGCGGTTCATGCTATTA TTCAGCCGGCAGGGAAAACTGCGGCTGCAAAAATGGTACCTGGCCACTTC GGACAAGGAACGGAAGAAGATGGTGCGCGAGCTCATGCAGGTTGTCCTGG CTCGAAAGCCCAAGATGTGCAGCTTCCTGGAGTGGAGGGACCTCAAAGTT GTCTATAAGAGATATGCCAGCCTCTACTTCTGCTGCGCCATCGAGGGCCA AGACAATGAGCTCATCACACTGGAGCTGATCCACCGATACGTGGAGCTCT TAGACAAATACTTTGGCAGTGTGTGCGAGCTGGACATCATCTTCAACTTT GAGAAGGCCTACTTCATCCTGGATGAGTTTTTGATGGGGGGGGATGTCCA GGACACCTCCACTTTCCCCTTTTCCCACTGAAGGTTTTAGAAGCTAGGAG GCAGGAAAATGTGACCCAGATGGGGGTGCTATTTGGCTTTTATTCCCTGC CTTTGCAGAACTGATGTCACCCCAGATGTCCTTCCCTCCCTAATAACTGT AAATATATAAATATGTCAGGTTAAAGGGAAAAGGTGTTCAGGGCACTTCT TGTCCTCTCTGTCCCATAACCTACCTCCACCCTCCCCCTAGCCAGCCAGG CAGCTTCTCTGCCTGGGAGGGGAGCCTGGACCCCCCTCTTTCTCCTTGGC TGCAGTGGGGCCTTTATCCAGTGCCAGGGAGGAACAACATAGTTAATTTT TTTCTAACCTTGCCACTTTGAGGGAAGGAAGGGTTGGGGGAAGGGCAAGC TTTATGGGACCCTGGTCCTGGCCCTGGCCTTTCACTCCAGTTCTGGGTGA GGCAGGAGCTGGGAGGGGTGGGGAGGGGGAGGGGGAAGTGTCTGCCTTTA TGTCCTTTCTTCTGAAATAAAAGGAAAAGCATTTCTGGAAAAAAAAAAAA AAAAAAAA

Gene structure information

H-Inv cluster ID		HIX0201161
Genomic location	Chromosome	7
	Location	7q22.1
	Position	100797767- 100804557
	Strand	+
Possible duplicated location(s)		NA
Gene structure		5 exon(s)
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:1174;
	KEGG GENES	KEGG GENES(1174);
	GeneCard	AP1S1;  *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 HIP000078661 Predicted CDS 30..431;  133[aa];  Orientation:+3;  Codon Adaptation Index (CAI). 0.83

MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFL EWRDLKVVYKRYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCE LDIIFNFEKAYFILDEFLMGGDVQDTSTFPFSH*

Motif information

	a.a. length	InterPro	Name
	127	IPR022775	AP complex, mu/sigma subunit [Domain]
	128	IPR011012	Longin-like domain [Domain]
	126	IPR016635	Adaptor protein complex, sigma subunit [Family]
	11	IPR000804	Clathrin adaptor complex, small chain [Conserved_site]

Gene function information

H-Inv ID		HIT000031599
H-Inv cluster ID		HIX0201161
Accession number		BC003561.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;  Splicing isoform
Coding potential		Protein coding;
Definition		Similar to AP-1 complex subunit sigma-1A; Adapter-related protein complex 1 sigma-1A subunit; Adaptor protein complex AP-1 sigma-1A subunit; Clathrin assembly protein complex 1 sigma-1A small chain; Clathrin coat assembly protein AP19; Golgi adaptor HA1/AP1 adaptin sigma-1A subunit; HA1 19 kDa subunit; Sigma 1a subunit of AP-1 clathrin; Sigma-adaptin 1A; Sigma1A-adaptin;
Similarity category		Category: Similar to known protein(Category II).
		Similar to known protein (P61966)  [Identity/coverage = 100.0%/80.38%] to Homo sapiens (Human). protein.
Experimental evidence		Protein evidence
PubMed ID		9733768;  12853948;  14702039;  15489334;  16548883;  18691976;  20068231;  21269460;  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	AP1S1
	HGNC aliases	"erythrokeratodermia variabilis 3 (Kamouraska type)"
	HGNC name	adaptor-related protein complex 1, sigma 1 subunit
	DDBJ	AP1S1
	UniProt	AP1S1
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	HIP000078661
	No. of interaction	NA
	Interaction partner(s)	NA
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:1174;
	KEGG GENES	KEGG GENES(1174);
	GeneCard	AP1S1;  *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

Molecular function	protein transporter activity (GO:0008565);
Biological process	protein transport (GO:0015031);  transport (GO:0006810);  vesicle-mediated transport (GO:0016192);  intracellular protein transport (GO:0006886);
Cellular component	membrane coat (GO:0030117);

Subcellular localization information

Last modified:27-May-2015

WoLF PSORT	mitochondria;  cytosol;  nuclear;  Other;
Target P	mitochondria
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:27-May-2015

Start End PDB_ID E-value Identity Coverage SCOP_ID 1 128 1gw5M2 1e-32 19.8 126/141 d.110.4.2

Related H-InvDB links GTOP

Gene expression information

Last modified:27-May-2015

Tissue-specific expression			NA
Probe information	AceGene		NA
	Affymetrix GeneChip	HG-Focus	209635_at;
		HG-U133	205196_s_at;  209635_at;
		HG-U133A	205196_s_at;  209635_at;
		HG-U133A_2	205196_s_at;  209635_at;
		HG-U133B	NA
		HG-U133_Plus_2	205196_s_at;  209635_at;
		HG-U95	36498_at;
		HG-U95A	36498_at;
		HG-U95B	NA
		HG-U95C	NA
		HG-U95D	NA
		HG-U95E	NA
		HG-U95Av2	NA
		HuEx-1_0	3016181;  3016182;  3016183;  3016190;  3016191;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	A_23_P157404;
		Whole Human Genome Oligo Microarray:PGID247	A_23_P157404;  A_24_P63950;
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 45 .. 45 C/T rs189658039 + CDS Synonymous[Leu6Leu] 128 .. 128 C/T rs77387752 + CDS Synonymous[Arg33Arg] 146 .. 146 C/G rs148305541 + CDS Synonymous[Val39Val] 230 .. 230 C/T rs77920250 + CDS Synonymous[Phe67Phe] 236 .. 236 C/T rs192601589 + CDS Synonymous[Cys69Cys] 388 .. 388 G/C rs200310743 + CDS Nonsynonymous[Gly120Ala] 392 .. 392 G/T rs142485973 + CDS Synonymous[Gly121Gly] 440 .. 440 G/C rs112015844 + 3'UTR 522 .. 522 C/T rs1048303 + 3'UTR 622 .. 622 T/C rs200108336 + 3'UTR 622 ^ 623 -/ACCTCC rs113505007 + 3'UTR 623 ^ 624 -/ACCTCC rs67632624 + 3'UTR 626 ^ 627 -/TCCACC rs71755167 + 3'UTR 631 ^ 632 -/TCCACC rs4196 - 3'UTR 632 .. 632 C/T rs150440069 + 3'UTR 633 .. 633 T/C rs146237323 + 3'UTR 665 .. 665 G/T rs112799564 + 3'UTR 812 .. 812 C/T rs1048365 + 3'UTR 840 .. 840 G/A rs77060326 + 3'UTR 843 .. 843 C/T rs1048375 + 3'UTR 858 .. 858 G/A rs1048389 + 3'UTR 873 .. 873 G/T rs149674622 + 3'UTR 876 .. 876 G/C rs3188428 + 3'UTR 880 .. 880 A/G rs13221344 + 3'UTR 924 .. 924 G/T rs3177697 + 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;