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FTHL17 Gene

protein-coding   GIFtS: 47
GCID: GC0XM030999

Ferritin, Heavy Polypeptide-Like 17

  See FTHL17-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ferritin, Heavy Polypeptide-Like 171 2
Cancer/Testis Antigen 381 2 3
CT382 3
Ferritin Heavy Polypeptide-Like 172

External Ids:    HGNC: 39871   Entrez Gene: 539402   Ensembl: ENSG000001324467   OMIM: 3003085   UniProtKB: Q9BXU83   

Export aliases for FTHL17 gene to outside databases

Previous GC identifers: GC0XM029592 GC0XM029774 GC0XM030291 GC0XM030451 GC0XM030452 GC0XM030849 GC0XM028830


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FTHL17 Gene:
This gene is orthologous to a mouse gene that encodes a ferritin heavy polypeptide-like protein and shows
testis-specific expression. (provided by RefSeq, Oct 2009)

GeneCards Summary for FTHL17 Gene:
FTHL17 (ferritin, heavy polypeptide-like 17) is a protein-coding gene. Diseases associated with FTHL17 include klinefelter's syndrome. GO annotations related to this gene include oxidoreductase activity and ferric iron binding. An important paralog of this gene is FTMT.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FTHL17 gene promoter:
         Nkx3-1   Nkx3-1 v4   AML1a   AP-1   MIF-1   Nkx3-1 v1   MEF-2A   Nkx3-1 v2   Nkx3-1 v3   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFTHL17 promoter sequence
   Search Chromatin IP Primers for FTHL17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FTHL17


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

Entrez Gene cytogenetic band: Xp21   Ensembl cytogenetic band:  Xp21.2   HGNC cytogenetic band: Xp21.2

FTHL17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FTHL17 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM030999:  view genomic region     (about GC identifiers)

Start:
31,089,358 bp from pter      End:
31,090,170 bp from pter
Size:
813 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: FHL17_HUMAN, Q9BXU8 (See protein sequence)
Recommended Name: Ferritin heavy polypeptide-like 17  
Size: 183 amino acids; 21142 Da
Secondary accessions: Q6NT24 Q6NTE2

Explore the universe of human proteins at neXtProt for FTHL17: NX_Q9BXU8

Explore proteomics data for FTHL17 at MOPED


See FTHL17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_114100.1  
ENSEMBL proteins: 
 ENSP00000368207  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 6):
 IPR009040 Ferritin-like_diiron
 IPR012347 Ferritin-rel
 IPR001519 Ferritin
 IPR014034 Ferritin_CS
 IPR009078 Ferritin-like_SF

Graphical View of Domain Structure for InterPro Entry Q9BXU8

ProtoNet protein and cluster: Q9BXU8

3 Blocks protein domains:
IPB001519 Ferritin
IPB008331 Ferritin and Dps
IPB014034 Ferritin


UniProtKB/Swiss-Prot: FHL17_HUMAN, Q9BXU8
Similarity: Belongs to the ferritin family
Similarity: Contains 1 ferritin-like diiron domain


Find genes that share domains with FTHL17           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008199ferric iron binding IEA--
     
Find genes that share ontologies with FTHL17           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for FTHL17:
 Decreased Hepatitis C virus re 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
extracellular2

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FTHL17
Interactions:

    Search GeneGlobe Interaction Network for FTHL17

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

Selected Interacting proteins for FTHL17 (ENSP000003682074) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
InteractantInteraction Details
GeneCardExternal ID(s)
EIF1ADENSP000003091754STRING: ENSP00000309175
NFYAENSP000003457024STRING: ENSP00000345702
RPL19ENSP000002254304STRING: ENSP00000225430
GSTA4ENSP000003599984STRING: ENSP00000359998
ANAPC11ENSP000003499574STRING: ENSP00000349957
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006826iron ion transport IEA--
GO:0006879cellular iron ion homeostasis IEA--

Find genes that share ontologies with FTHL17           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for FTHL17 (FHL17)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for FTHL17 gene: 
NM_031894.2  

Unigene Cluster for FTHL17:

Ferritin, heavy polypeptide-like 17
Hs.333125
Unigene Representative Sequence: AF285592
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000359202(uc004dcl.1)
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Additional mRNA sequence: 

AF285592.1 BC069069.1 BC069538.1 BC100768.1 BC100769.1 BC100770.1 

1 DOTS entry:

DT.102819930 

4 AceView cDNA sequences:

BC069538 BC069069 NM_031894 AF285592 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FTHL17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTGCCCTTTC
FTHL17 Expression
About this image


FTHL17 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Testis (Reproductive System)    fully expand to see all 2 entries
         XY Germ Cells Testis Cord
 
 Gonad
         XY Germ Cells Testis Cord
FTHL17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FTHL17 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.333125

UniProtKB/Swiss-Prot: FHL17_HUMAN, Q9BXU8
Tissue specificity: Testis specific. Also expressed in several cancers

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In Situ
Assay Products:
 

 
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for FTHL17 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fthl175 ferritin, heavy polypeptide-like 17   --   X (4.10 cM) 9033493 
chicken
(Gallus gallus)
Aves FTH6
Gallus gallus ferritin, heavy polypeptide 1 (FTH1)...
63(a)
1 → many
5(16149680-16154242)
lizard
(Anolis carolinensis)
Reptilia --
--
64(a)
1 → many
GL343235.1(2273171-2283525)
zebrafish
(Danio rerio)
Actinopterygii fth1b6
fth1a6
ferritin, heavy polypeptide 1a
55(a)
55(a)
many ↔ many
many ↔ many
25(3025332-3032475) ENSDARG00000007975
7(13752097-13760863) ENSDARG00000015551


ENSEMBL Gene Tree for FTHL17 (if available)
TreeFam Gene Tree for FTHL17 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FTHL17 gene
FTMT2  FTH12  FTL2  
5 SIMAP similar genes for FTHL17 using alignment to 1 protein entry:     FHL17_HUMAN:
FTH1P19    FTH1    FTMT    FTL    FTL variant

Find genes that share paralogs with FTHL17           About GenesLikeMe


1 Pseudogenes.org Pseudogene for FTHL17
PGOHUM00000241235


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for FTHL17 (see all 72)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs3753551,2
C,F,O,A,H--31003554(+) AAAGAA/GGTACC 1 -- ds500123Minor allele frequency- G:0.33NA EA NS WA CSA 2376
rs1130571421,2
F--31003582(+) AGAGCT/CCCCAC 1 -- ds50011Minor allele frequency- C:0.00CSA 1
rs59715501,2
C,F,H--31003714(+) TCCCCA/GGAGGC 1 -- ds50017Minor allele frequency- G:0.13NS EA NA WA CSA 425
rs169981211,2
C,F,H--31003745(+) GACCAC/TGTTTT 1 -- ds50017Minor allele frequency- T:0.01NA NS EA 560
rs1116581151,2
C,F--31003827(+) CATACG/CCTGGT 1 -- ds50011Minor allele frequency- C:0.00CSA 1
rs734602411,2
C,F--31004018(+) TATCAT/AATGGA 1 -- ds50012Minor allele frequency- A:0.33WA CSA 3
rs1865435991,2
C--31004174(+) CCCATC/TTGGGC 1 -- ut310--------
rs70581231,2
C,F--31004289(+) CCAGCT/ACTTTG 2 /E /V mis12Minor allele frequency- A:0.01WA NA 4546
rs70570571,2
C,F--31004290(+) CAGCTC/ATTTGA 2 /E /* stg12Minor allele frequency- A:0.01WA NA 4546
rs173405191,2,,4
C,F,H--31004320(+) CAGGTA/GGTGGC 2 H Y mis1 ese38Minor allele frequency- G:0.01NA NS EA 538

HapMap Linkage Disequilibrium report for FTHL17 (31089358 - 31090170 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for FTHL17: --
Human Gene Mutation Database (HGMD): FTHL17
Locus Specific Mutation Databases (LSDB): FTHL17

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SeqTarget long-range PCR primers for resequencing FTHL17
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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.)
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OMIM gene information: 300308    OMIM disorders: --

1 disease for FTHL17:    
About MalaCards
klinefelter's syndrome


Find genes that share disorders with FTHL17           About GenesLikeMe


Export disorders for FTHL17 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)
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PubMed articles for FTHL17 gene integrated from 10 sources:
(articles sorted by number of sources associating them with FTHL17)
    Utopia: connect your pdf to the dynamic
world of online information

  1. An abundance of X-linked genes expressed in spermatogonia. (PubMed id 11279525)1, 2, 3 Wang P.J.... Page D.C. (Nat. Genet. 2001)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Five new human cancer-germline genes identified among 12 genes expressed in spermatogonia. (PubMed id 12704671)1, 2 Loriot A.... De Smet C. (Int. J. Cancer 2003)
  4. Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. (PubMed id 19812237)1 Poplinski A....Gromoll J. (Eur. J. Endocrinol. 2010)
  5. Expression of cancer-testis antigens as possible targets for antigen-specific immunotherapy in head and neck squamous cell carcinoma. (PubMed id 16929165)1 Atanackovic D....Leuwer R. (amp 2006)
  6. Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation. (PubMed id 14531651)1 Lee S....Cha K.Y. (J. Assist. Reprod. Genet. 2003)
  7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 53940 HGNC: 3987 AceView: FTHL17 Ensembl:ENSG00000132446 euGenes: HUgn53940
ECgene: FTHL17 H-InvDB: FTHL17

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for FTHL17 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for FTHL17 gene:
Search GeneIP for patents involving FTHL17

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 Search Tocris compounds for FTHL17 (FHL17)
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 Novus Tissue Slides
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FTHL17
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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