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

FTHL17 Gene

protein-coding   GIFtS: 45
GCID: GC0XM030999

ferritin, heavy polypeptide-like 17

 Explore 3 diseases affiliated with
FTHL17 via our new
 Human Malady Compendium 
Biological research products
for FTHL17
    

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

Aliases
Ferritin, Heavy Polypeptide-Like 171 2
CT381 2 3
Cancer/Testis Antigen 382 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FTHL17:
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)




(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_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FTHL17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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

FTHL17 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_114100.1  
ENSEMBL proteins: 
 ENSP00000368207  

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

FTHL17 for domains           About GeneDecksing

5/6 InterPro domains/families (see all 6):
 IPR009040 Ferritin-like_diiron
 IPR012347 Ferritin-rel
 IPR001519 Ferritin
 IPR014034 Ferritin_CS
 IPR009078 Ferritin/RNR-like

Graphical View of Domain Structure for InterPro Entry Q9BXU8

ProtoNet protein and cluster: Q9BXU8

3 Blocks protein families:
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


(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

miRNA
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008199ferric iron binding IEA--
GO:0016491oxidoreductase activity IEA--


FTHL17 for ontologies           About GeneDecksing


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


(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 CentralTM Interacting Genes and Proteins Networks for FTHL17

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for FTHL17 (ENSP000003682074) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
EIF1ADENSP000003091754STRING: ENSP00000309175
About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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


FTHL17 for ontologies           About GeneDecksing



(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
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for FTHL17
Search CenterWatch for drugs/clinical trials and news about FTHL17 / FHL17 

(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,
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About This Section

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 cDNA 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™, 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

FTHL17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGCCCTTTC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See FTHL17 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FTHL17

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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for FTHL17 gene from 8/20 species (see all 20)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves FRIH_CHICK6
Ferritin heavy chain
54(a)
1 → many
5(18042629-18047153)
lizard
(Anolis carolinensis)
Reptilia --
--
62(a)
1 → many
GL343235.1(2276924-2283558)
zebrafish
(Danio rerio)
Actinopterygii fth1a6
fth1b6
ferritin, heavy polypeptide 1b
55(a)
54(a)
many ↔ many
many ↔ many
7(13752097-13760863)
25(3025332-3032475)
honey bee
(Apis mellifera)
Insecta --
--
47(a)
possible ortholog
Group2.5(688212-689354)
worm
(Caenorhabditis elegans)
Secernentea ftn-26
ftn-16
FerriTiN family member (ftn-1)
49(a)
42(a)
possible ortholog
possible ortholog
I(3680181-3680947)
V(7545952-7547993)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATFER46
FER36
(see all 4)
ferritin 3
(see all 4)
27(a)
27(a)
(see all 4)
many ↔ many
many ↔ many
(see all 4)
2(16831293-16833280)
3(20814047-20816035)
rice
(Oryza sativa)
Liliopsida --
--
ferritin-1, chloroplast precursor, putative, expre...
ferritin-1, chloroplast precursor, putative, expre...
28(a)
22(a)
many ↔ many
many ↔ many
12(319214-322923)
11(303969-306933)
E. coli
(Escherichia coli)
Gamma proteobacteria ftnA6
ftnB6
ferritin B, probable ferrous iron reservoir
21(a)
16(a)
possible ortholog
possible ortholog
Chromosome(1986740-1987237)
Chromosome(1984949-1985452)


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)
About This Section
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

FTHL17 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for FTHL17
PGOHUM00000241235


(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

10/58 NCBI SNPs in FTHL17 are shown (see all 58    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,--31088893(+) AAAGAA/GGTACC 1 -- ds500123Minor allele frequency- G:0.33NA EA NS WA CSA 2376
rs1130571421,2
--31088921(+) AGAGCT/CCCCAC 1 -- ds50011Minor allele frequency- C:0.00CSA 1
rs59715501,2
C,F,H,--31089053(+) TCCCCA/GGAGGC 1 -- ds50017Minor allele frequency- G:0.13NS EA NA WA CSA 425
rs169981211,2
C,F,H,--31089084(+) GACCAC/TGTTTT 1 -- ds50017Minor allele frequency- T:0.01NA NS EA 560
rs1116581151,2
C,--31089166(+) CATACG/CCTGGT 1 -- ds50011Minor allele frequency- C:0.00CSA 1
rs734602411,2
C,--31089357(+) TATCAT/AATGGA 1 -- ds50012Minor allele frequency- A:0.33WA CSA 3
rs1865435991,2
C,--31089513(+) CCCATC/TTGGGC 1 -- ut310--------
rs70581231,2
C,F,--31089628(+) CCAGCT/ACTTTG 2 /E /V mis12Minor allele frequency- A:0.01WA NA 4546
rs70570571,2
C,F,--31089629(+) CAGCTC/ATTTGA 2 /E /* stg12Minor allele frequency- A:0.01WA NA 4546
rs173405191,2
C,F,H--31089659(+) 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 (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FTHL17
     1 CNV: 3265
Human Gene Mutation Database (HGMD): FTHL17

Locus Specific Mutation Databases (LSDB): FTHL17

SABiosciences Cancer Mutation PCR Assays
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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

FTHL17 for disorders           About GeneDecksing

OMIM gene information: 300308    OMIM disorders: --

3 diseases for FTHL17:    About MalaCards
klinefelter's syndrome    squamous cell carcinoma    carcinoma


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)
About This Section

PubMed articles for FTHL17 gene integrated from 9 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. (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. (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. (2003)
  4. Severe XIST hypomethylation clearly distinguishes (SR Y+) 46,XX-maleness from Klinefelter syndrome. (PubMed id 19812237)1 Poplinski A....Gromoll J. (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. (2006)
  6. Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation. (PubMed id 14531651)1 Lee S....Cha K.Y. (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. (2002)

(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: 53940 HGNC: 3987 AceView: FTHL17 Ensembl:ENSG00000132446 euGenes: HUgn53940
ECgene: FTHL17 H-InvDB: FTHL17

(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
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.)
About This Section
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, 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),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

 
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FTHL17
       
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