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

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.

Additional gene information for FAM8A1 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 FAM8A1 Gene

Genomics for FAM8A1 Gene

GeneHancer (GH) Regulatory Elements for FAM8A1 Gene

Promoters and enhancers for FAM8A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I017599 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.3 +0.7 671 2.9 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 FAM8A1 LOC102724591 RNU6-190P
GH06I017701 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.2 +104.4 104386 6.4 MLX ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC NUP153 LOC105374952 RNU6-190P FAM8A1 KDM1B
GH06I018022 Enhancer 1 Ensembl ENCODE dbSUPER 5.3 +422.8 422817 1.6 MAX EBF1 REST TEAD3 ZNF316 ZFHX2 POLR2A ZNF341 EGR2 KIF13A NHLRC1 FAM8A1 GC06P018054 GC06P017969
GH06I018361 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.1 +762.1 762082 1.4 JUND POLR2A JUN HNF4A FOS GC06P018364 PIR39754 RNF144B DEK FAM8A1 PIR61433
GH06I017588 Enhancer 0.8 Ensembl ENCODE 5.1 -10.6 -10607 1.5 CTCF ZNF654 REST RAD21 JUND ZNF629 CREB1 CUX1 FOS RNU6-190P FAM8A1 SUMO2P13 LOC102724591
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM8A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM8A1 gene promoter:

Genomic Locations for FAM8A1 Gene

Genomic Locations for FAM8A1 Gene
11,433 bases
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:
    Recommended name:
    Protein FAM8A1
    Protein Accession:
    Secondary Accessions:
    • B2R725

    Protein attributes for FAM8A1 Gene

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

neXtProt entry for FAM8A1 Gene

Post-translational modifications for FAM8A1 Gene

No Post-translational modifications

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

Gene Families for FAM8A1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for FAM8A1 Gene


Suggested Antigen Peptide Sequences for FAM8A1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

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 FAM8A1 Gene

Localization for FAM8A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM8A1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

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


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

Drugs & Compounds for FAM8A1 Gene

No Compound Related Data Available

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

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

No ASD Table

Relevant External Links for FAM8A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM8A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:


SOURCE GeneReport for Unigene cluster for FAM8A1 Gene:


mRNA Expression by UniProt/SwissProt for FAM8A1 Gene:

Tissue specificity: Ubiquitously expressed, with a higher level of expression in testis.

Evidence on tissue expression from TISSUES for FAM8A1 Gene

  • Nervous system(4.7)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with FAM8A1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia FAM8A1 33 34
  • 99.51 (n)
(Bos Taurus)
Mammalia FAM8A1 33 34
  • 87.19 (n)
(Canis familiaris)
Mammalia FAM8A1 33 34
  • 85.08 (n)
(Rattus norvegicus)
Mammalia Fam8a1 33
  • 84.51 (n)
(Mus musculus)
Mammalia C78339 34 33
  • 82.65 (n)
Fam8a1 16
(Ornithorhynchus anatinus)
Mammalia FAM8A1 34
  • 65 (a)
(Monodelphis domestica)
Mammalia FAM8A1 34
  • 59 (a)
(Gallus gallus)
Aves FAM8A1 33
  • 73.14 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam8a1 33
  • 67.51 (n)
(Danio rerio)
Actinopterygii LOC100537042 33
  • 61.82 (n)
FAM8A1 (2 of 3) 34
  • 54 (a)
FAM8A1 (3 of 3) 34
  • 54 (a)
fam8a1 34
  • 49 (a)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG8237 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
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

Gene Tree for FAM8A1 (if available)
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 Variation AA Info Type
rs1000283608 -- 17,607,812(+) TTTTTT/TTTTTTT intron_variant
rs1000358308 -- 17,607,493(+) TATATA/TATA intron_variant
rs1000389030 -- 17,599,083(+) C/T upstream_transcript_variant
rs1000405870 -- 17,604,707(+) C/A intron_variant
rs1000727638 -- 17,611,476(+) G/A 3_prime_UTR_variant

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

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

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)

Additional Variant Information for FAM8A1 Gene

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

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

Disorders for FAM8A1 Gene

Additional Disease Information for 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 58
  2. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PMID: 15144186) Brill LM … Peters EC (Analytical chemistry 2004) 3 4 58
  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) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for FAM8A1 Gene

Sources for FAM8A1 Gene

Loading form....