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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC7A5P2 Gene

pseudogene GIFtS: 34
GCID: GC16M021529

solute carrier family 7 (amino acid transporter light chain,...

Search for SLC7A5P2
in

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 7 (Amino Acid Transporter Light Chain, L System), Member 5 Pseudogene 2¹ ²		HLAT1 3-Transmembrane Protein IMAA³
IMAA¹ ² ³		HLAT1 3-Transmembrane Protein MMAA³
MMAA² ³		HLAT1 3TM IMAA³
HLAT1-3TM¹		HLAT1 3TM MMAA³

External Ids:	HGNC: 24951¹	Entrez Gene: 387254²	Ensembl: ENSG00000258186⁷	UniProtKB: Q9GIP4³

ORGUL members:
	NONCODE:n405547

Export aliases for SLC7A5P2 gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for SLC7A5P2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC7A5P2 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC7A5P2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A5P2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.2 Ensembl cytogenetic band: 16p12.2 HGNC cytogenetic band: 16p12.2

SLC7A5P2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A5P2 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M021529: view genomic region (about GC identifiers)

Start:	21,529,214 bp from pter	End:	21,531,765 bp from pter
Size:	2,552 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LAT1L_HUMAN, Q9GIP4 (See protein sequence)

Recommended Name: Putative L-type amino acid transporter 1-like protein IMAA

Size: 190 amino acids; 19840 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Caution: Could be the product of a pseudogene

Secondary accessions: Q6IPZ0 Q8MH62

Alternative splicing: 2 isoforms: Q9GIP4-3 Q9GIP4-1

Explore the universe of human proteins at neXtProt for SLC7A5P2: NX_Q9GIP4

SLC7A5P2 Protein expression data from MOPED and PaxDb: --

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

SLC7A5P2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC7A5P2 for domains About GeneDecksing

1 InterPro domain/family:

IPR002293 AA/rel_permease1

Graphical View of Domain Structure for InterPro Entry Q9GIP4

ProtoNet protein and cluster: Q9GIP4

UniProtKB/Swiss-Prot: LAT1L_HUMAN, Q9GIP4

Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC

2.A.3.8) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: LAT1L_HUMAN, Q9GIP4

Induction: Up-regulated by concanavalin-A stimulation

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015171	amino acid transmembrane transporter activity	IEA	--

SLC7A5P2 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SLC7A5P2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

Unigene Cluster for SLC7A5P2:

Solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2

Hs.664952 [show with all ESTs]

Unigene Representative Sequence: NR_002594

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000553010(uc002djd.3)

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Additional cDNA sequence:

BC071656.1 NR_002594.1

8 DOTS entries:

DT.102844247 DT.120658735 DT.91886722 DT.75128209 DT.120659074 DT.40202975 DT.91960683 DT.95111096

24/29 AceView cDNA sequences (see all 29):

BI518905 Z32787 NM_199182 AI948542 BF376460 BF376456 BF885053 BI758996

BU727212 BM689022 BC071656 BP356604 AA563894 BM904244 AA743059 AA381655

BF376447 BF376416 AJ346395 BF376471 BF376463 BP362881 BF376394 BF376412

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC7A5P2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCCGGGACG

About this image

SLC7A5P2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Endoderm-like cells (Generation of hepato...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Genevestigator expression for SLC7A5P2

SOURCE GeneReport for Unigene cluster: Hs.664952

UniProtKB/Swiss-Prot: LAT1L_HUMAN, Q9GIP4

Tissue specificity: Expressed in peripheral blood mononuclear cells and lymphoid and myeloid cell lines

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

--

ENSEMBL Gene Tree for SLC7A5P2 (if available)
TreeFam Gene Tree for SLC7A5P2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs565118^1,2	C	--	21528847(+)	`CTGCCA/TCAGCT`	1	--	ds500¹		2		NA	4
rs638442^1,2	C,	--	21528857(+)	`TTCCCA/GAGTAG`	1	--	ds500¹		3		MN NA	188
rs150126027^1,2		--	21529265(+)	`GGAGTA/GCAGTG`	1	--	nc-transcript-variant		0	--	--	--	--
rs76987087^1,2	C	--	21529300(+)	`TCCACG/ATCCCG`	1	--	nc-transcript-variant		1		NA	2
rs481140^1,2	C,A,H,	--	21529413(+)	`CAGGCT/CGGTCT`	1	--	nc-transcript-variant		2		NA	4
rs670571^1,2	C,F,A,H,	--	21529446(+)	`CTGCCT/CGTCTT`	1	--	nc-transcript-variant		3		NA	6
rs2531657^1,2		--	21529574(+)	`GGCGGA/GCATGT`	1	--	nc-transcript-variant		0	--	--	--	--
rs190798616^1,2		--	21529656(+)	`TCACAC/TGTCCA`	1	--	nc-transcript-variant		0	--	--	--	--
rs76854772^1,2	F	--	21530030(+)	`GCCTTC/TCCACG`	1	--	nc-transcript-variant		1		NA	4
rs182651411^1,2		--	21530133(+)	`CGCCTC/GTAATC`	1	--	nc-transcript-variant		0	--	--	--	--

HapMap Linkage Disequilibrium report for SLC7A5P2 (21529214 - 21531765 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 14 variations for SLC7A5P2
14 CNVs: 37844 37556 72505 3114 102228 30760 72503 7095 8817 88002 37573 72502 32100 3995

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC7A5P2 for disorders About MalaCards

SLC7A5P2 for disorders About GeneDecksing

1 disease from the University of Copenhagen DISEASES database for SLC7A5P2:

Histidinemia

Export disorders for SLC7A5P2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SLC7A5P2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SLC7A5P2)

Utopia: connect your pdf to the dynamic
world of online information

Up-regulated expression of a novel gene in activated human peripheral blood mononuclear cells that is a truncated paralog of the human system L-amino acid transporter 1. (PubMed id 12009310)^{1, 2, 3} Ito M.... Tsurudome M. (2002)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)² Martin J.... Pennacchio L.A. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 387254	HGNC: 24951	AceView: IMAA	Ensembl:ENSG00000258186	euGenes: HUgn387254
ECgene: SLC7A5P2	H-InvDB: SLC7A5P2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Intellectual Property for SLC7A5P2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SLC7A5P2 gene:
Search GeneIP for patents involving SLC7A5P2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

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The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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SLC7A5P2 Gene

solute carrier family 7 (amino acid transporter light chain,...

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SLC7A5P2 Gene

solute carrier family 7 (amino acid transporter light chain,...

Aliasesfor SLC7A5P2 gene

Summariesfor SLC7A5P2 gene

Genomic Viewsfor SLC7A5P2 gene

Proteinsfor SLC7A5P2 gene

Protein Domains /Familiesfor SLC7A5P2 gene

Functionfor SLC7A5P2 gene

Pathways & Interactionsfor SLC7A5P2 gene

Drugs & Compoundsfor SLC7A5P2 gene

Transcriptsfor SLC7A5P2 gene

Expression for SLC7A5P2 gene

Orthologsfor SLC7A5P2 gene

Paralogsfor SLC7A5P2 gene

Genomic Variantsfor SLC7A5P2 gene

Disorders / Diseasesfor SLC7A5P2 gene

Publicationsfor SLC7A5P2 gene

External Searches for SLC7A5P2 gene

Genome Databases showing SLC7A5P2 gene

Other Databases showing SLC7A5P2 gene

Specialized Databases showing SLC7A5P2 gene

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Aliases
for SLC7A5P2 gene

Summaries
for SLC7A5P2 gene

Genomic Views
for SLC7A5P2 gene

Proteins
for SLC7A5P2 gene

Protein Domains /
Families
for SLC7A5P2 gene

Function
for SLC7A5P2 gene

Pathways & Interactions
for SLC7A5P2 gene

Drugs & Compounds
for SLC7A5P2 gene

Transcripts
for SLC7A5P2 gene

Expression
for SLC7A5P2 gene

Orthologs
for SLC7A5P2 gene

Paralogs
for SLC7A5P2 gene

Genomic Variants
for SLC7A5P2 gene

Disorders / Diseases
for SLC7A5P2 gene

Publications
for SLC7A5P2 gene

Intellectual Property
for SLC7A5P2 gene

Products
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