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

FAM71E1 Gene

protein-coding   GIFtS: 35
GCID: GC19M050970          (predicted)

Family With Sequence Similarity 71, Member E1

  Search for FAM71E1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Family With Sequence Similarity 71, Member E11 2
Protein FAM71E12

External Ids:    HGNC: 251071   Entrez Gene: 1127032   Ensembl: ENSG000001425307   UniProtKB: Q6IPT23   

Export aliases for FAM71E1 gene to outside databases

Previous GC identifers: GC19M055662 GC19M047307


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

GeneCards Summary for FAM71E1 Gene: 
FAM71E1 (family with sequence similarity 71, member E1) is a protein-coding gene. An important paralog of this gene is FAM71D.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM71E1 gene promoter:
         AhR   MAZR   LCR-F1   Arnt   Max   HFH-1   COMP1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM71E1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM71E1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM71E1


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

FAM71E1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM71E1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M050970:  view genomic region     (about GC identifiers)

Start:
50,970,042 bp from pter      End:
50,980,010 bp from pter
Size:
9,969 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: F71E1_HUMAN, Q6IPT2 (See protein sequence)
Recommended Name: Protein FAM71E1  
Size: 247 amino acids; 27609 Da
Secondary accessions: Q96EJ5 Q9BSM9
Alternative splicing: 2 isoforms:  Q6IPT2-1   Q6IPT2-2   

Explore the universe of human proteins at neXtProt for FAM71E1: NX_Q6IPT2

Explore proteomics data for FAM71E1 at MOPED 

FAM71E1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

FAM71E1 Protein Expression

REFSEQ proteins: NP_612420.1  
ENSEMBL proteins: 
 ENSP00000471374   ENSP00000472421   ENSP00000469375   ENSP00000471272   ENSP00000472434  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR022168 DUF3699

Graphical View of Domain Structure for InterPro Entry Q6IPT2

ProtoNet protein and cluster: Q6IPT2

UniProtKB/Swiss-Prot: F71E1_HUMAN, Q6IPT2
Similarity: Belongs to the FAM71 family


FAM71E1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Phenotypes:
     1 GenomeRNAi human phenotype for FAM71E1:
 Synthetic lethal with Ras 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM71E1 
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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM71E1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FAM71E1 (F71E1)

Search CenterWatch for drugs/clinical trials and news about FAM71E1 / F71E1

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FAM71E1 gene: 
NM_138411.1  

Unigene Cluster for FAM71E1:

Family with sequence similarity 71, member E1
Hs.448941  [show with all ESTs]
Unigene Representative Sequence: BC071737
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000593796 ENST00000600100 ENST00000602178 ENST00000595790 ENST00000599206
ENST00000600330
miRNA
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Inhib. RNA
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Additional mRNA sequence: 

AK125745.1 AK131032.1 BC004941.1 BC012203.1 BC071737.1 

5 DOTS entries:

DT.452496  DT.40106364  DT.75101390  DT.101980987  DT.418636 

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

FAM71E1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGGGTGGCAG
FAM71E1 Expression
About this image


See FAM71E1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM71E1

SOURCE GeneReport for Unigene cluster: Hs.448941
    SABiosciences Custom PCR Arrays for FAM71E1
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM71E1

(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 common ancestor of chordates.

Orthologs for FAM71E1 gene from 2/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fam71e11 , 5 family with sequence similarity 71, member E11, 5 77.37(n)1
75.76(a)1
  7 (28.83 cM)5
755381  NM_028169.11  NP_082445.11 
 444965885 
lizard
(Anolis carolinensis)
Reptilia FAM71E16
family with sequence similarity 71, member E1
52(a)
1 ↔ 1
6(79580684-79584485)


ENSEMBL Gene Tree for FAM71E1 (if available)
TreeFam Gene Tree for FAM71E1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for FAM71E1 gene
FAM71D2  ENSG000002677062  FAM71A2  FAM71E22  FAM71B2  FAM71C2  FAM71F22  FAM71F12  
1 SIMAP similar gene for FAM71E1 using alignment to 2 protein entries:     F71E1_HUMAN (see all proteins):
LOC112703

FAM71E1 for paralogs           About GeneDecksing



(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) 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

10/235 SNPs in FAM71E1 are shown (see all 235)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs353263471,2
C--47309444(+) AAAAA-/A/AA  
        
TCCCA
1 -- int11NA 2
rs753566851,2
C--50970170(+) CCAGAA/GTTCAG 1 -- ut310--------
rs1915710381,2
--50970217(+) GCTGGC/GGAGAG 1 -- int10--------
rs1402025661,2
--50970371(+) ATCCCC/TTGCTC 1 -- int10--------
rs1824940481,2
--50970519(+) GCTGTA/GTGTGT 1 -- int10--------
rs1880599581,2
--50970605(+) ACCCCC/TATATC 1 -- int10--------
rs797587591,2
C,F--50970607(+) CCCCAT/CATCCC 1 -- int11Minor allele frequency- C:0.03EA 120
rs1438789671,2
--50970750(+) ACCTGA/GGAGTC 1 -- int10--------
rs1117963511,2
F--50970793(+) CACTGC/TGCTTC 1 -- int12Minor allele frequency- T:0.04CSA WA 119
rs2006043611,2
C--50970931(+) GGCGGG/TAGAGC 2 Y S mis10--------

HapMap Linkage Disequilibrium report for FAM71E1 (50970042 - 50980010 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for FAM71E1:    About this table     
Variant IDTypeSubtypePubMed ID
esv2718736CNV Deletion23290073
nsv509750CNV Insertion20534489
nsv912282CNV Loss21882294
nsv912283CNV Gain21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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 FAM71E1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM71E1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  2. 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)
  3. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

(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: 112703 HGNC: 25107 Ensembl:ENSG00000142530 euGenes: HUgn112703 ECgene: FAM71E1
H-InvDB: FAM71E1

(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 FAM71E1 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 FAM71E1 gene:
Search GeneIP for patents involving FAM71E1

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category
(GIFtS: 73)
transforming growth factor, beta 1
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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

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