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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
  • Inositol Polyphosphate Phosphatase-Interacting Protein A 2 3
  • Sesquipedalian-1 2 3
  • IPIP27A 3 4
  • SES1 3 4
  • Family With Sequence Similarity 109, Member A 2
  • 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 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
GH12F111461 0.5 ENCODE 11.7 -93.7 -93660 2.6 CTCF MTA2 POLR2A IKZF1 NBN FOS TBX21 SPI1 SH2B3 FAM109A ALDH2 ADAM1A PIR36891 ENSG00000272215
GH12F111453 0.6 ENCODE 11.7 -85.8 -85770 3.3 ZNF362 RFX1 POLR2A GLIS1 BHLHE40 MAFK SUPT5H SH2B3 FAM109A ALDH2 PIR36891 ENSG00000272215
GH12F111424 1.6 FANTOM5 Ensembl ENCODE 11.4 -69.1 -69055 27.9 HDGF PKNOX1 ATF1 WRNIP1 SIN3A ZNF2 YY1 ZNF121 GLIS2 ZNF143 ADAM1A SH2B3 PCNPP1 FAM216A FAM109A MIR6861 MAPKAPK5 ALDH2 TMEM116 BRAP
GH12F111569 1 Ensembl ENCODE 10.4 -201.3 -201271 2.0 PKNOX1 TAF1 JUN DPF2 FEZF1 ZNF316 JUND IKZF1 ZBTB33 ZNF24 SH2B3 ATXN2 FAM109A ALDH2 ADAM1A ENSG00000272215 LOC100101246
GH12F111577 1 Ensembl ENCODE 10 -209.4 -209365 1.8 ELF3 HDGF CBX3 ATF1 RARA GATA4 ELK1 FOS MIXL1 JUNB ADAM1A FAM109A ALDH2 LOC100101246 ENSG00000272215
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001467277 121 2401 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 KLF13 PAF1

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

Post-translational modifications for FAM109A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0005515 protein binding IPI 21233288
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

miRNA for FAM109A Gene

miRTarBase miRNAs that target FAM109A

Inhibitory RNA Products

Flow Cytometry Products

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:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 21233288
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 21233288
GO:0005829 cytosol IEA --
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
GO:0007032 endosome organization IMP 21233288
GO:0042147 retrograde transport, endosome to Golgi 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

Transcripts for FAM109A Gene

Unigene Clusters for FAM109A Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FAM109A Gene



Protein tissue co-expression partners for FAM109A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM109A Gene:

FAM109A

SOURCE GeneReport for Unigene cluster for FAM109A Gene:

Hs.173088
genes like me logo Genes that share expression patterns with FAM109A: view

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
chimpanzee
(Pan troglodytes)
Mammalia FAM109A 34 35
  • 98.85 (n)
cow
(Bos Taurus)
Mammalia FAM109A 34 35
  • 83.73 (n)
dog
(Canis familiaris)
Mammalia FAM109A 34 35
  • 82.87 (n)
mouse
(Mus musculus)
Mammalia Fam109a 34 16 35
  • 74.84 (n)
rat
(Rattus norvegicus)
Mammalia Fam109a 34
  • 73.95 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 38 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FAM109A 34 35
  • 67.11 (n)
lizard
(Anolis carolinensis)
Reptilia FAM109A 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488560 34
  • 49.49 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-193c2.2 34
  • 69.21 (n)
FAM109A 35
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12393 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6697 35
  • 24 (a)
OneToMany
Species where no ortholog for FAM109A 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)
  • 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
rs1058706 -- 111,361,037(-) CAAGC(C/T)CTGCT utr-variant-3-prime
rs10849938 -- 111,362,255(+) AGGCC(C/T)GGTCA downstream-variant-500B, utr-variant-3-prime
rs11065877 -- 111,370,819(+) GGAGG(C/T)TGAGA upstream-variant-2KB
rs111472821 -- 111,360,552(+) AGAAC(A/G)TGCCT downstream-variant-500B
rs111838686 -- 111,361,970(+) GAGAG(C/T)CACTG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv516920 CNV loss 19592680
nsv832513 CNV gain 17160897

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)

Relevant External Links for FAM109A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM109A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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) 2 3 4 64
  2. 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 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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
  5. 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 64

Products for FAM109A Gene

Sources for FAM109A Gene

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