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Aliases for FAM8A1 Gene

Aliases for FAM8A1 Gene

  • Family With Sequence Similarity 8 Member A1 2 3 5
  • Autosomal Highly Conserved Protein 3 4
  • AHCP 3 4
  • Family With Sequence Similarity 8, Member A1 2
  • Protein FAM8A1 3

External Ids for FAM8A1 Gene

Previous GeneCards Identifiers for FAM8A1 Gene

  • GC06P017658
  • GC06P017708
  • GC06P017545

Summaries for FAM8A1 Gene

GeneCards Summary for FAM8A1 Gene

FAM8A1 (Family With Sequence Similarity 8 Member A1) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM8A1 Gene

Genomics for FAM8A1 Gene

Regulatory Elements for FAM8A1 Gene

Enhancers for FAM8A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F017599 1.1 ENCODE 7.3 +0.7 671 2.9 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A ZNF2 YY1 NUP153 LOC105374952 FAM8A1 RNU6-190P
GH06F017701 1.5 FANTOM5 ENCODE 5.1 +104.4 104386 6.4 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC NUP153 LOC105374952 RNU6-190P FAM8A1 KDM1B
GH06F017579 0.9 Ensembl ENCODE 5.4 -19.8 -19787 1.4 ZNF687 NFYC CHD1 SIN3A E2F1 NONO POLR2A ZBTB33 FAM8A1 SUMO2P13 GC06P017580
GH06F017614 0.5 FANTOM5 9.7 +14.3 14264 0.3 ZNF600 FAM8A1 NUP153 KIF13A RNU6-190P
GH06F018022 0.9 Ensembl ENCODE 5.3 +422.8 422817 1.6 TEAD4 MAX REST TEAD3 ZNF316 ZFHX2 JUND POLR2A BCL11A ZNF341 KIF13A NHLRC1 FAM8A1 GC06P018054
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM8A1 on UCSC Golden Path with GeneCards custom track

Promoters for FAM8A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001212595 614 2600 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A ZNF2 YY1

Genomic Location for FAM8A1 Gene

Chromosome:
6
Start:
17,600,287 bp from pter
End:
17,611,719 bp from pter
Size:
11,433 bases
Orientation:
Plus strand

Genomic View for FAM8A1 Gene

Genes around FAM8A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM8A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM8A1 Gene

Proteins for FAM8A1 Gene

  • Protein details for FAM8A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBU6-FA8A1_HUMAN
    Recommended name:
    Protein FAM8A1
    Protein Accession:
    Q9UBU6
    Secondary Accessions:
    • B2R725

    Protein attributes for FAM8A1 Gene

    Size:
    413 amino acids
    Molecular mass:
    44123 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM8A1 Gene

Post-translational modifications for FAM8A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM8A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM8A1 Gene

Domains & Families for FAM8A1 Gene

Protein Domains for FAM8A1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM8A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBU6

UniProtKB/Swiss-Prot:

FA8A1_HUMAN :
  • Contains 1 RDD domain.
Domain:
  • Contains 1 RDD domain.
genes like me logo Genes that share domains with FAM8A1: view

No data available for Gene Families for FAM8A1 Gene

Function for FAM8A1 Gene

Phenotypes for FAM8A1 Gene

genes like me logo Genes that share phenotypes with FAM8A1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM8A1 Gene

Localization for FAM8A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM8A1 Gene

Membrane; Multi-pass membrane protein.

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 FAM8A1 gene
Compartment Confidence
plasma membrane 3
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FAM8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM8A1: view

Pathways & Interactions for FAM8A1 Gene

SuperPathways for FAM8A1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM8A1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM8A1 Gene

Transcripts for FAM8A1 Gene

mRNA/cDNA for FAM8A1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(182) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM8A1 Gene

Family with sequence similarity 8, member A1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM8A1 Gene

No ASD Table

Relevant External Links for FAM8A1 Gene

GeneLoc Exon Structure for
FAM8A1
ECgene alternative splicing isoforms for
FAM8A1

Expression for FAM8A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM8A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM8A1 Gene

This gene is overexpressed in Adrenal (35.1) and Testis (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM8A1 Gene



Protein tissue co-expression partners for FAM8A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM8A1 Gene:

FAM8A1

SOURCE GeneReport for Unigene cluster for FAM8A1 Gene:

Hs.95260

mRNA Expression by UniProt/SwissProt for FAM8A1 Gene:

Q9UBU6-FA8A1_HUMAN
Tissue specificity: Ubiquitously expressed, with a higher level of expression in testis.
genes like me logo Genes that share expression patterns with FAM8A1: view

Primer Products

No data available for mRNA differential expression in normal tissues for FAM8A1 Gene

Orthologs for FAM8A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM8A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM8A1 34 35
  • 99.51 (n)
cow
(Bos Taurus)
Mammalia FAM8A1 34 35
  • 87.19 (n)
dog
(Canis familiaris)
Mammalia FAM8A1 34 35
  • 85.08 (n)
rat
(Rattus norvegicus)
Mammalia Fam8a1 34
  • 84.51 (n)
mouse
(Mus musculus)
Mammalia C78339 34 35
  • 82.65 (n)
Fam8a1 16
platypus
(Ornithorhynchus anatinus)
Mammalia FAM8A1 35
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM8A1 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM8A1 34
  • 73.14 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam8a1 34
  • 67.51 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537042 34
  • 61.82 (n)
FAM8A1 (2 of 3) 35
  • 54 (a)
OneToMany
FAM8A1 (3 of 3) 35
  • 54 (a)
OneToMany
fam8a1 35
  • 49 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG8237 35
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToOne
Species where no ortholog for FAM8A1 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)
  • 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)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM8A1 Gene

ENSEMBL:
Gene Tree for FAM8A1 (if available)
TreeFam:
Gene Tree for FAM8A1 (if available)

Paralogs for FAM8A1 Gene

No data available for Paralogs for FAM8A1 Gene

Variants for FAM8A1 Gene

Sequence variations from dbSNP and Humsavar for FAM8A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1012470 -- 17,607,405(-) gaggt(G/T)gttag intron-variant
rs10456801 -- 17,605,418(+) AAAAA(C/G)TAATC intron-variant
rs10551084 -- 17,599,695(+) CATTT(-/TCTG)TTATG nc-transcript-variant, upstream-variant-2KB
rs1055111 -- 17,609,859(+) TTTCT(G/T)TGACG utr-variant-3-prime
rs1063675 -- 17,611,071(+) CCAAC(G/T)GAACT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FAM8A1 Gene

Variant ID Type Subtype PubMed ID
nsv830596 CNV gain 17160897
nsv601046 CNV gain 21841781
nsv516012 CNV gain+loss 19592680
nsv1027813 CNV gain 25217958
esv2731633 CNV deletion 23290073
dgv5922n100 CNV gain 25217958
dgv1715e212 CNV gain 25503493

Variation tolerance for FAM8A1 Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM8A1 Gene

Human Gene Mutation Database (HGMD)
FAM8A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM8A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM8A1 Gene

Disorders for FAM8A1 Gene

Relevant External Links for FAM8A1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM8A1

No disorders were found for FAM8A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM8A1 Gene

Publications for FAM8A1 Gene

  1. Transduction of the human gene FAM8A1 by endogenous retrovirus during primate evolution. (PMID: 11707071) Jamain S. … Bourgeron T. (Genomics 2001) 2 3 4 64
  2. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PMID: 15144186) Brill L.M. … Peters E.C. (Anal. Chem. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for FAM8A1 Gene

Sources for FAM8A1 Gene

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