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Aliases for FAM109A Gene

Aliases for FAM109A Gene

  • Family With Sequence Similarity 109 Member A 2 3 5
  • 27 KDa Inositol Polyphosphate Phosphatase-Interacting Protein A 3 4
  • Family With Sequence Similarity 109, Member A 2 3
  • IPIP27A 3 4
  • SES1 3 4
  • Protein FAM109A 3

External Ids for FAM109A Gene

Previous GeneCards Identifiers for FAM109A Gene

  • GC12M110262
  • GC12M111798
  • GC12M108813

Summaries for FAM109A Gene

Entrez Gene Summary for FAM109A Gene

  • This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for FAM109A Gene

FAM109A (Family With Sequence Similarity 109 Member A) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is FAM109B.

UniProtKB/Swiss-Prot for FAM109A Gene

  • Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM109A Gene

Genomics for FAM109A Gene

Regulatory Elements for FAM109A Gene

Enhancers for FAM109A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAM109A on UCSC Golden Path with GeneCards custom track

Promoters for FAM109A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM109A on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM109A Gene

Chromosome:
12
Start:
111,360,651 bp from pter
End:
111,369,121 bp from pter
Size:
8,471 bases
Orientation:
Minus strand

Genomic View for FAM109A Gene

Genes around FAM109A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM109A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM109A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM109A Gene

Proteins for FAM109A Gene

  • Protein details for FAM109A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4B1-SESQ1_HUMAN
    Recommended name:
    Sesquipedalian-1
    Protein Accession:
    Q8N4B1
    Secondary Accessions:
    • J3KP50
    • Q6PJL9
    • Q96MH8

    Protein attributes for FAM109A Gene

    Size:
    249 amino acids
    Molecular mass:
    27215 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with FAM109B. Interacts with OCRL and INPP5B.
    Miscellaneous:
    • Was named after sesquipedalian, an unnecessarily long description of a simple thing.

    Three dimensional structures from OCA and Proteopedia for FAM109A Gene

    Alternative splice isoforms for FAM109A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM109A Gene

Proteomics data for FAM109A Gene at MOPED

Post-translational modifications for FAM109A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM109A Gene

No data available for DME Specific Peptides for FAM109A Gene

Domains & Families for FAM109A Gene

Gene Families for FAM109A Gene

Protein Domains for FAM109A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM109A Gene

Graphical View of Domain Structure for InterPro Entry

Q8N4B1

UniProtKB/Swiss-Prot:

SESQ1_HUMAN :
  • The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.
  • Belongs to the sesquipedalian family.
Domain:
  • The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.
  • Contains 1 PH domain.
Family:
  • Belongs to the sesquipedalian family.
genes like me logo Genes that share domains with FAM109A: view

Function for FAM109A Gene

Molecular function for FAM109A Gene

UniProtKB/Swiss-Prot Function:
Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.

Gene Ontology (GO) - Molecular Function for FAM109A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IPI 21233288
genes like me logo Genes that share ontologies with FAM109A: view
genes like me logo Genes that share phenotypes with FAM109A: view

Animal Model Products

CRISPR Products

miRNA for FAM109A Gene

miRTarBase miRNAs that target FAM109A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM109A Gene

Localization for FAM109A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM109A Gene

Early endosome. Recycling endosome. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Interaction with OCRL may be crucial for targeting to endosome and to the trans-Golgi network. Also found on macropinosomes. Not detected in late endosomes, nor in lysosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM109A Gene COMPARTMENTS Subcellular localization image for FAM109A gene
Compartment Confidence
endosome 5
golgi apparatus 5
cytosol 3
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FAM109A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA 21233288
GO:0005829 cytosol IMP 21233288
genes like me logo Genes that share ontologies with FAM109A: view

Pathways & Interactions for FAM109A Gene

SuperPathways for FAM109A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM109A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IMP 21233288
genes like me logo Genes that share ontologies with FAM109A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM109A Gene

Drugs & Compounds for FAM109A Gene

No Compound Related Data Available

Transcripts for FAM109A Gene

Unigene Clusters for FAM109A Gene

Family with sequence similarity 109, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM109A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h
SP1: - - - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5:
SP6: - - - - - - - - -
SP7: - -
SP8: -

Relevant External Links for FAM109A Gene

GeneLoc Exon Structure for
FAM109A
ECgene alternative splicing isoforms for
FAM109A

Expression for FAM109A Gene

mRNA expression in normal human tissues for FAM109A Gene

Protein differential expression in normal tissues from HIPED for FAM109A Gene

This gene is overexpressed in Testis (38.7), Ovary (23.7), and Placenta (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for FAM109A Gene



SOURCE GeneReport for Unigene cluster for FAM109A Gene Hs.173088

genes like me logo Genes that share expression patterns with FAM109A: view

Protein tissue co-expression partners for FAM109A Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FAM109A Gene

Orthologs for FAM109A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM109A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAM109A 35
  • 83.73 (n)
  • 84.69 (a)
FAM109A 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM109A 35
  • 82.87 (n)
  • 81.4 (a)
FAM109A 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam109a 35
  • 74.84 (n)
  • 73.56 (a)
Fam109a 16
Fam109a 36
  • 54 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM109A 35
  • 98.85 (n)
  • 99.23 (a)
FAM109A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam109a 35
  • 73.95 (n)
  • 73.3 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 38 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FAM109A 35
  • 67.11 (n)
  • 60.89 (a)
FAM109A 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM109A 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488560 35
  • 49.49 (n)
  • 48.9 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-193c2.2 35
  • 69.21 (n)
  • 69.47 (a)
FAM109A 36
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12393 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6697 36
  • 24 (a)
OneToMany
Species with no ortholog for FAM109A:
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 FAM109A Gene

ENSEMBL:
Gene Tree for FAM109A (if available)
TreeFam:
Gene Tree for FAM109A (if available)

Paralogs for FAM109A Gene

Paralogs for FAM109A Gene

Pseudogenes.org Pseudogenes for FAM109A Gene

genes like me logo Genes that share paralogs with FAM109A: view

Variants for FAM109A Gene

Sequence variations from dbSNP and Humsavar for FAM109A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2079772 -- 111,362,718(+) GCAGG(G/T)CCCGG reference, missense
rs2079773 -- 111,362,730(+) TCTCC(G/T)GGCCA reference, missense
rs10849938 -- 111,362,255(+) AGGCC(C/T)GGTCA downstream-variant-500B, utr-variant-3-prime
rs2159335 -- 111,366,791(+) CCTTA(G/T)GCAGG intron-variant, upstream-variant-2KB
rs16941445 -- 111,366,425(+) CTTCC(A/G)ATCTC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FAM109A Gene

Variant ID Type Subtype PubMed ID
nsv832513 CNV Gain 17160897
nsv899519 CNV Gain 21882294
nsv899520 CNV Loss 21882294
nsv516920 CNV Loss 19592680

Variation tolerance for FAM109A Gene

Residual Variation Intolerance Score: 74.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.71; 93.26% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for FAM109A Gene

Disorders for FAM109A Gene

Relevant External Links for FAM109A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM109A

No disorders were found for FAM109A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM109A Gene

Publications for FAM109A Gene

  1. The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. (PMID: 21233288) Noakes C.J. … Lowe M. (Mol. Biol. Cell 2011) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
  4. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3
  5. Two closely related endocytic proteins that share a common OCRL- binding motif with APPL1. (PMID: 20133602) Swan L.E. … De Camilli P. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3

Products for FAM109A Gene

Sources for FAM109A Gene

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