Aliases for FAM71E1 Gene

Aliases for FAM71E1 Gene

  • Family With Sequence Similarity 71 Member E1 2 3 5
  • Protein FAM71E1 3 4
  • Family With Sequence Similarity 71, Member E1 2

External Ids for FAM71E1 Gene

Previous GeneCards Identifiers for FAM71E1 Gene

  • GC19M055662
  • GC19M050970
  • GC19M047307

Summaries for FAM71E1 Gene

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 FAM71A.

Additional gene information for FAM71E1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM71E1 Gene

Genomics for FAM71E1 Gene

GeneHancer (GH) Regulatory Elements for FAM71E1 Gene

Promoters and enhancers for FAM71E1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J050475 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.1 55 2.8 ZNF217 EP300 SIN3A TCF12 NRF1 USF1 SP1 GTF2E2 JUND PHF8 EMC10 FAM71E1 lnc-JOSD2-4 ASPDH
GH19J050346 Enhancer 0.9 ENCODE 11.1 +128.8 128819 3.9 SP1 EP300 RELA TRIM22 TEAD1 NR2F2 CTCF FOXA2 CEBPB CEBPG piR-31225-007 NAPSB KCNC3 NAPSA POLD1 JOSD2 ASPDH EMC10 FAM71E1 KLK2
GH19J050410 Enhancer 0.6 ENCODE 11.7 +65.9 65898 1.3 TBX3 POLR2A KDM1A SMARCA4 NR2F6 ZBTB33 ZMYM3 ZFP36 ZNF384 CHD4 lnc-NAPSA-3 NAPSB NAPSA NR1H2 EMC10 FAM71E1 ENSG00000142539 POLD1
GH19J050465 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 6.3 +10.4 10357 2.4 CTCF USF1 ZBTB11 CTBP1 MAX ZMYM3 ZBTB7A EGR1 SIN3A TCF7L2 ASPDH FAM71E1 lnc-JOSD2-5 MYBPC2
GH19J050479 Enhancer 1 ENCODE dbSUPER 0.7 -2.7 -2663 0.7 CTCF ZIC2 REST MYC CTBP1 ZBTB26 SMC3 HCFC1 RAD21 MAX lnc-EMC10-4 NAPSA NR1H2 CLEC11A ENSG00000268518 EMC10 FAM71E1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM71E1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM71E1

Top Transcription factor binding sites by QIAGEN in the FAM71E1 gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • COMP1
  • HFH-1
  • LCR-F1
  • Max
  • MAZR

Genomic Locations for FAM71E1 Gene

Genomic Locations for FAM71E1 Gene
chr19:50,466,643-50,476,848
(GRCh38/hg38)
Size:
10,206 bases
Orientation:
Minus strand
chr19:50,970,042-50,980,010
(GRCh37/hg19)
Size:
9,969 bases
Orientation:
Minus strand

Genomic View for FAM71E1 Gene

Genes around FAM71E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM71E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM71E1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM71E1 Gene

Proteins for FAM71E1 Gene

  • Protein details for FAM71E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IPT2-F71E1_HUMAN
    Recommended name:
    Protein FAM71E1
    Protein Accession:
    Q6IPT2
    Secondary Accessions:
    • Q96EJ5
    • Q9BSM9

    Protein attributes for FAM71E1 Gene

    Size:
    247 amino acids
    Molecular mass:
    27609 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM71E1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM71E1 Gene

Post-translational modifications for FAM71E1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM71E1 Gene

No data available for DME Specific Peptides for FAM71E1 Gene

Domains & Families for FAM71E1 Gene

Gene Families for FAM71E1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM71E1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM71E1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ43757 fis, clone TESTI2045983 (B3KWT0_HUMAN)
  • Protein FAM71E1 (F71E1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6IPT2

UniProtKB/Swiss-Prot:

F71E1_HUMAN :
  • Belongs to the FAM71 family.
Family:
  • Belongs to the FAM71 family.
genes like me logo Genes that share domains with FAM71E1: view

Function for FAM71E1 Gene

genes like me logo Genes that share phenotypes with FAM71E1: view

Animal Model Products

CRISPR Products

miRNA for FAM71E1 Gene

miRTarBase miRNAs that target FAM71E1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM71E1 Gene

Localization for FAM71E1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM71E1 gene
Compartment Confidence
nucleus 3
cytosol 2
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM71E1 Gene

Pathways & Interactions for FAM71E1 Gene

PathCards logo

SuperPathways for FAM71E1 Gene

No Data Available

Interacting Proteins for FAM71E1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000471272 Q6IPT2-F71E1_HUMAN for FAM71E1 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for FAM71E1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM71E1 Gene

Drugs & Compounds for FAM71E1 Gene

No Compound Related Data Available

Transcripts for FAM71E1 Gene

mRNA/cDNA for FAM71E1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM71E1 Gene

No ASD Table

Relevant External Links for FAM71E1 Gene

GeneLoc Exon Structure for
FAM71E1

Expression for FAM71E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM71E1 Gene

mRNA differential expression in normal tissues according to GTEx for FAM71E1 Gene

This gene is overexpressed in Testis (x24.6).

Protein differential expression in normal tissues from HIPED for FAM71E1 Gene

This gene is overexpressed in Urine (66.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM71E1 Gene



Protein tissue co-expression partners for FAM71E1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM71E1

SOURCE GeneReport for Unigene cluster for FAM71E1 Gene:

Hs.448941

Evidence on tissue expression from TISSUES for FAM71E1 Gene

  • Nervous system(4.1)
  • Pancreas(4)
genes like me logo Genes that share expression patterns with FAM71E1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM71E1 Gene

Orthologs for FAM71E1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM71E1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM71E1 31 30
  • 98.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM71E1 31 30
  • 86.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM71E1 31 30
  • 84.43 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam71e1 17 31 30
  • 77.37 (n)
rat
(Rattus norvegicus)
Mammalia Fam71e1 30
  • 76.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM71E1 31
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM71E1 31
  • 54 (a)
OneToOne
Species where no ortholog for FAM71E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FAM71E1 Gene

ENSEMBL:
Gene Tree for FAM71E1 (if available)
TreeFam:
Gene Tree for FAM71E1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM71E1: view image

Paralogs for FAM71E1 Gene

(2) SIMAP similar genes for FAM71E1 Gene using alignment to 2 proteins:

  • F71E1_HUMAN
  • B3KWT0_HUMAN
genes like me logo Genes that share paralogs with FAM71E1: view

Variants for FAM71E1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM71E1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs736769 - p.Ser206Ile

Additional dbSNP identifiers (rs#s) for FAM71E1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM71E1 Gene

Variant ID Type Subtype PubMed ID
esv2718736 CNV deletion 23290073
nsv1125677 CNV tandem duplication 24896259
nsv1127694 CNV deletion 24896259
nsv1133010 OTHER inversion 24896259
nsv1140251 OTHER inversion 24896259
nsv1152956 OTHER inversion 26484159
nsv509750 CNV insertion 20534489

Variation tolerance for FAM71E1 Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.38; 42.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM71E1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM71E1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM71E1 Gene

Disorders for FAM71E1 Gene

Additional Disease Information for FAM71E1

No disorders were found for FAM71E1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM71E1 Gene

Publications for FAM71E1 Gene

  1. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. (PMID: 28700943) Martin TD … Elledge SJ (Cell reports 2017) 3 54
  2. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. (PMID: 27229929) Daakour S … Twizere JC (BMC cancer 2016) 3 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 54

Products for FAM71E1 Gene

Sources for FAM71E1 Gene