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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC7A5P1 Gene

pseudogene   GIFtS: 27
GCID: GC16M029627

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

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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Aliases
Solute Carrier Family 7 (Amino Acid Transporter Light Chain, L System),
Member 5 Pseudogene 11 2
     HLAT1-3TM1
MLAS1 2 3     LAT1-3TM Protein 12
LAT1-3TM1 2     HLAT1 3-Transmembrane Protein MLAS3
DC492     HLAT1 3TM MLAS3

External Ids:    HGNC: 294581   Entrez Gene: 818932   Ensembl: ENSG000001807477   UniProtKB: Q8MH633   

Export aliases for SLC7A5P1 gene to outside databases

Previous GC identifers: GC16M029533 GC16M029534


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

Entrez Gene summary for SLC7A5P1:
This locus represents a transcribed pseudogene of the L-type amino acid transporter 1. (provided by RefSeq, Jul 2008)




(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:
   SABiosciences Regulatory transcription factor binding sites in the SLC7A5P1 gene promoter:
         HOXA9B   HOXA9   Pax-5   Olf-1   Ik-3   Arnt   MZF-1   Pax-3   STAT3   Pax-4a   
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A5P1


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p11.2

SLC7A5P1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A5P1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M029627:  view genomic region     (about GC identifiers)

Start:
29,624,424 bp from pter      End:
29,625,038 bp from pter
Size:
615 bases      Orientation:
minus strand

1 alternative location:
Chr16- 21,458,004-21,531,765     

(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)
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UniProtKB/Swiss-Prot: LAT1N_HUMAN, Q8MH63 (See protein sequence)
Recommended Name: Putative L-type amino acid transporter 1-like protein MLAS  
Size: 180 amino acids; 18779 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Caution: Could be the product of a pseudogene

Explore the universe of human proteins at neXtProt for SLC7A5P1: NX_Q8MH63

SLC7A5P1 Protein expression data from MOPED and PaxDb: --

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

SLC7A5P1 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR002293 AA/rel_permease1

Graphical View of Domain Structure for InterPro Entry Q8MH63

ProtoNet protein and cluster: Q8MH63

UniProtKB/Swiss-Prot: LAT1N_HUMAN, Q8MH63
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, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
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Animal Models:
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(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).
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Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC7A5P1

(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)
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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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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About This Section

REFSEQ mRNAs for SLC7A5P1 gene: 
NM_031211.3  

Unigene Cluster for SLC7A5P1:

Solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 1
Hs.677169  [show with all ESTs]
Unigene Representative Sequence: BM923058
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000520823(uc002diu.1) ENST00000522480 ENST00000440195(uc002diz.1)
ENST00000522841(uc002dja.3) ENST00000437413 ENST00000435197 ENST00000445756
ENST00000330588(uc002djc.3)

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Additional cDNA sequence: NR_002593.1 

2 DOTS entries:

DT.100048577  DT.91719329 

24/126 AceView cDNA sequences (see all 126):

AA583959 AW027872 BC063703 AI932767 BE856281 N58537 CB117190 BM980315 
AI890540 AI278611 BQ774620 BI522879 BU630462 AA911116 AI203503 BM995243 
Z41844 AA993675 BQ576164 CD723471 BX403259 AI291616 W56258 BV207199 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A5P1    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7
SP1:                                      -                     
SP2:                                -                           


ECgene alternative splicing isoforms for SLC7A5P1

(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
See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

Genevestigator expression for SLC7A5P1

SOURCE GeneReport for Unigene cluster: Hs.677169

UniProtKB/Swiss-Prot: LAT1N_HUMAN, Q8MH63
Tissue specificity: Expressed in peripheral blood mononuclear cells and lymphoid and myeloid cell lines

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In Situ
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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 SLC7A5P1 (if available)
TreeFam Gene Tree for SLC7A5P1 (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

10/28 NCBI SNPs in SLC7A5P1 are shown (see all 28    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs118658031,2
C,F,H--29623985(+) GAGCAG/CAAATG 1 -- ds50011Minor allele frequency- C:0.33NA 6
rs284550951,2
C,F,H--29624247(+) GTAAAA/CGAATG 1 -- ds500110Minor allele frequency- C:0.13EA NS NA 1120
rs768629111,2
C--29624408(+) CGGCCC/GGCGCC 1 -- ds50010--------
rs620370751,2
C,F--29624530(+) TACTGC/TGATGA 1 -- nc-transcript-variant3Minor allele frequency- T:0.12NA EU 267
rs1888998831,2
--29624668(+) GCGCCA/CACGAT 1 -- nc-transcript-variant0--------
rs37437011,2
C,F--29624931(+) CGCTAG/ACGCCC 1 -- nc-transcript-variant2Minor allele frequency- A:0.37EA 1576
rs1931164591,2
--29625006(+) CAGCCA/GAGCGA 1 -- nc-transcript-variant0--------
rs1821164091,2
--29625077(+) TAGGCA/CCCGGC 1 -- us2k10--------
rs99213981,2
C--29625289(+) GCCCGC/TGTCAT 1 -- us2k10--------
rs1480021961,2
--29626035(+) AGGGTG/TTGTGT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for SLC7A5P1 (29624424 - 29625038 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for SLC7A5P1
     7 CNVs: 72519 35383 72520 30777 7102 4000 77272

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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
  --

(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 SLC7A5P1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SLC7A5P1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
  4. 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)
  5. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1 Loftus B.J.... Adams M.D. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
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: 81893 HGNC: 29458 AceView: LAT1-3TM Ensembl:ENSG00000180747 euGenes: HUgn81893
ECgene: SLC7A5P1 H-InvDB: SLC7A5P1

(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
  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for SLC7A5P1 gene:
Search GeneIP for patents involving SLC7A5P1

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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 Search ThermoFisher Antibodies for SLC7A5P1
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SLC7A5P1
 inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC7A5P1
Sirion Biotech Customized:
 stable knockdown cell line services for SLC7A5P1
 inducible knockdown cell line services for SLC7A5P1
 design and validation of potent shRNA sequences against SLC7A5P1
 adenovirus for potent knockdown of SLC7A5P1
 adenovirus for overexpression of SLC7A5P1
 stable overexpressing cell line services for SLC7A5P1
 inducible overexpressing cell line services for SLC7A5P1
       
GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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VWF
(GIFTS: 73)
von Willebrand factor
GIFtS Group
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