Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FAM71F1 Gene

Aliases for FAM71F1 Gene

  • Family With Sequence Similarity 71 Member F1 2 3 5
  • Family With Sequence Similarity 137, Member A 2 3
  • Testis Development Protein NYD-SP18 3 4
  • FAM137A 3 4
  • Family With Sequence Similarity 71, Member F1 2
  • Testes Development-Related NYD-SP18 3
  • Testicular Tissue Protein Li 67 3
  • Protein FAM71F1 3
  • Protein FAM137A 4
  • NYD-SP18 3

External Ids for FAM71F1 Gene

Previous HGNC Symbols for FAM71F1 Gene

  • FAM137A

Previous GeneCards Identifiers for FAM71F1 Gene

  • GC07P128143
  • GC07P128350
  • GC07P122716
  • GC07P128352
  • GC07P128391
  • GC07P128446
  • GC07P128498

Summaries for FAM71F1 Gene

GeneCards Summary for FAM71F1 Gene

FAM71F1 (Family With Sequence Similarity 71 Member F1) is a Protein Coding gene. An important paralog of this gene is FAM71F2.

Additional gene information for FAM71F1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM71F1 Gene

Genomics for FAM71F1 Gene

GeneHancer (GH) Regulatory Elements for FAM71F1 Gene

Promoters and enhancers for FAM71F1 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
GH07I128707 Promoter/Enhancer 1.2 EPDnew ENCODE 550.8 -0.4 -411 1.3 YBX3 ASH1L GLI4 MCM2 ZNF366 POLR2A ZNF26 ATF7 SRF ZBTB2 FAM71F1 GC07M128710 CICP14 RBM28 ENSG00000243230 METTL2B ENSG00000272601 SMO NRF1 RNA5SP243
GH07I128715 Promoter 0.8 EPDnew 550.4 +6.3 6311 0.1 MEIS2 IKZF1 ATF7 ATF2 SPI1 FAM71F1 IMP3P2 FAM71F2 ENSG00000241493 CALU CCDC136 GC07M128710
GH07I128737 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.9 +31.6 31642 6.6 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CALU ENSG00000243302 ENSG00000230715 ENSG00000243679 ENSG00000242588 TNPO3 RPS10P15 ENSG00000229413 CDC26P1 OPN1SW
GH07I128812 Enhancer 0.9 Ensembl 10.4 +103.9 103940 0.4 ATF1 TCF12 GATA2 ATF7 REST ZNF184 SMARCA4 MYNN GLIS1 NBN OPN1SW ATP6V1F FLNC-AS1 IMP3P2 ENSG00000241493 FAM71F2 FAM71F1 PIR31734 GC07P128951 CCDC136
GH07I128754 Enhancer 0.8 ENCODE dbSUPER 10.9 +46.9 46898 3.2 ZNF362 ZSCAN4 ZNF316 JUND POLR2B POLR2A FOXP2 FOS RCOR1 OPN1SW CALU CCDC136 IMP3P2 FAM71F2 ENSG00000241493 FLNC FAM71F1 RN7SL81P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM71F1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM71F1 gene promoter:

Genomic Locations for FAM71F1 Gene

Genomic Locations for FAM71F1 Gene
chr7:128,709,061-128,731,743
(GRCh38/hg38)
Size:
22,683 bases
Orientation:
Plus strand
chr7:128,349,115-128,371,797
(GRCh37/hg19)

Genomic View for FAM71F1 Gene

Genes around FAM71F1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM71F1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM71F1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM71F1 Gene

Proteins for FAM71F1 Gene

  • Protein details for FAM71F1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KD3-F71F1_HUMAN
    Recommended name:
    Protein FAM71F1
    Protein Accession:
    Q96KD3
    Secondary Accessions:
    • Q8IY75
    • Q8NA48

    Protein attributes for FAM71F1 Gene

    Size:
    344 amino acids
    Molecular mass:
    38946 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM71F1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM71F1 Gene

Post-translational modifications for FAM71F1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for FAM71F1 Gene

Domains & Families for FAM71F1 Gene

Gene Families for FAM71F1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM71F1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM71F1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96KD3

UniProtKB/Swiss-Prot:

F71F1_HUMAN :
  • Belongs to the FAM71 family.
Family:
  • Belongs to the FAM71 family.
genes like me logo Genes that share domains with FAM71F1: view

Function for FAM71F1 Gene

Phenotypes for FAM71F1 Gene

genes like me logo Genes that share phenotypes with FAM71F1: view

Animal Model Products

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 , miRNA , Transcription Factor Targets and HOMER Transcription for FAM71F1 Gene

Localization for FAM71F1 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 FAM71F1 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM71F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with FAM71F1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM71F1 Gene

Pathways & Interactions for FAM71F1 Gene

SuperPathways for FAM71F1 Gene

No Data Available

Interacting Proteins for FAM71F1 Gene

Selected Interacting proteins: Q96KD3-F71F1_HUMAN for FAM71F1 Gene via IID

Gene Ontology (GO) - Biological Process for FAM71F1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM71F1 Gene

Drugs & Compounds for FAM71F1 Gene

No Compound Related Data Available

Transcripts for FAM71F1 Gene

Unigene Clusters for FAM71F1 Gene

Family with sequence similarity 71, member F1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM71F1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - - - - -
SP2: - - - - -
SP3: -
SP4: -
SP5: - - -
SP6: - - - -
SP7: - - - - - -
SP8: - - -
SP9: -

Relevant External Links for FAM71F1 Gene

GeneLoc Exon Structure for
FAM71F1
ECgene alternative splicing isoforms for
FAM71F1

Expression for FAM71F1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM71F1 Gene

mRNA differential expression in normal tissues according to GTEx for FAM71F1 Gene

This gene is overexpressed in Testis (x48.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM71F1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FAM71F1 Gene:

FAM71F1

SOURCE GeneReport for Unigene cluster for FAM71F1 Gene:

Hs.732440

Evidence on tissue expression from TISSUES for FAM71F1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with FAM71F1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM71F1 Gene

Orthologs for FAM71F1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for FAM71F1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM71F1 33 34
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia FAM71F1 33 34
  • 88.08 (n)
dog
(Canis familiaris)
Mammalia FAM71F1 33 34
  • 87.89 (n)
mouse
(Mus musculus)
Mammalia Fam71f1 33 16 34
  • 82.99 (n)
rat
(Rattus norvegicus)
Mammalia Fam71f1 33
  • 82.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 38 (a)
OneToMany
Species where no ortholog for FAM71F1 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)
  • lizard (Anolis carolinensis)
  • 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 FAM71F1 Gene

ENSEMBL:
Gene Tree for FAM71F1 (if available)
TreeFam:
Gene Tree for FAM71F1 (if available)

Paralogs for FAM71F1 Gene

(1) SIMAP similar genes for FAM71F1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FAM71F1: view

Variants for FAM71F1 Gene

Sequence variations from dbSNP and Humsavar for FAM71F1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000021805 -- 128,724,924(+) C/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1000307300 -- 128,731,583(+) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000450517 -- 128,724,963(+) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1000495811 -- 128,718,424(+) C/T intron_variant
rs1000588943 -- 128,713,329(+) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM71F1 Gene

Variant ID Type Subtype PubMed ID
esv2735137 CNV deletion 23290073
esv2673978 CNV deletion 23128226
esv2670312 CNV deletion 23128226

Variation tolerance for FAM71F1 Gene

Residual Variation Intolerance Score: 83.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.86; 94.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM71F1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM71F1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM71F1 Gene

Disorders for FAM71F1 Gene

Additional Disease Information for FAM71F1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FAM71F1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM71F1 Gene

Publications for FAM71F1 Gene

  1. NYD-SP18 is associated with obesity in the NHLBI Family Heart Study. (PMID: 18317470) Wilk JB … Myers RH (International journal of obesity (2005) 2008) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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) 2 3 58
  4. Lack of Association between NYD-SP18 Variant and Obesity. The Health Alcohol and Psychosocial Factors in Eastern Europe Study. (PMID: 27237450) Hubacek JA … Bobak M (Annals of nutrition & metabolism 2016) 3 58
  5. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T … Xu J (Neurobiology of aging 2015) 3 58

Products for FAM71F1 Gene

Sources for FAM71F1 Gene

Content
Loading form....