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

Aliases for FAM135A Gene

Aliases for FAM135A Gene

  • Family With Sequence Similarity 135 Member A 2 3 5
  • KIAA1411 2 3 4
  • Family With Sequence Similarity 135, Member A 2
  • Protein FAM135A 3

External Ids for FAM135A Gene

Previous HGNC Symbols for FAM135A Gene

  • KIAA1411

Previous GeneCards Identifiers for FAM135A Gene

  • GC06P071179
  • GC06P068321
  • GC06P071122

Summaries for FAM135A Gene

GeneCards Summary for FAM135A Gene

FAM135A (Family With Sequence Similarity 135 Member A) is a Protein Coding gene. Diseases associated with FAM135A include Retinitis Pigmentosa. GO annotations related to this gene include hydrolase activity, acting on ester bonds and O-acyltransferase activity. An important paralog of this gene is FAM135B.

Gene Wiki entry for FAM135A Gene

Additional gene information for FAM135A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM135A Gene

Genomics for FAM135A Gene

Regulatory Elements for FAM135A Gene

Enhancers for FAM135A 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
GH06H070474 0.2 ENCODE 10.9 +62.0 62032 0 FAM135A LOC105377849 GC06P070515
GH06H070838 0.5 FANTOM5 2.5 +426.0 426018 0 FOXA2 ZNF589 ZNF584 THRB FAM135A PIR55092 GC06M070817
GH06H070231 0.4 FANTOM5 2.5 -181.2 -181224 0 PKNOX1 FAM135A ENSG00000253809 GC06M070247
GH06H070410 1.4 ENCODE dbSUPER 0.7 +0.7 686 5 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 EVADR SDHAF4 FAM135A LOC105377849
GH06H070880 0.3 FANTOM5 1.6 +467.6 467570 0 FAM135A PIR60398 PIR60782
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM135A on UCSC Golden Path with GeneCards custom track

Promoters for FAM135A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000198663 859 2401 HDGF PKNOX1 FOXA2 ARID4B FEZF1 DMAP1 ZNF2 YY1 ZNF207 SP3

Genomic Location for FAM135A Gene

Chromosome:
6
Start:
70,412,941 bp from pter
End:
70,561,174 bp from pter
Size:
148,234 bases
Orientation:
Plus strand

Genomic View for FAM135A Gene

Genes around FAM135A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM135A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM135A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM135A Gene

Proteins for FAM135A Gene

  • Protein details for FAM135A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2D6-F135A_HUMAN
    Recommended name:
    Protein FAM135A
    Protein Accession:
    Q9P2D6
    Secondary Accessions:
    • A2RRQ5
    • Q3C0H3
    • Q5JXK0
    • Q5JXK1
    • Q68DW0
    • Q6P081
    • Q9H0F2
    • Q9NU48
    • Q9NUQ5
    • Q9NXL5

    Protein attributes for FAM135A Gene

    Size:
    1515 amino acids
    Molecular mass:
    169840 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH65767.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAA90995.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAA92649.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB66754.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI42417.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM135A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM135A Gene

Post-translational modifications for FAM135A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM135A Gene

Domains & Families for FAM135A Gene

Gene Families for FAM135A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM135A Gene

Suggested Antigen Peptide Sequences for FAM135A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2D6

UniProtKB/Swiss-Prot:

F135A_HUMAN :
  • Belongs to the FAM135 family.
Family:
  • Belongs to the FAM135 family.
genes like me logo Genes that share domains with FAM135A: view

Function for FAM135A Gene

Gene Ontology (GO) - Molecular Function for FAM135A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0052689 carboxylic ester hydrolase activity IBA --
genes like me logo Genes that share ontologies with FAM135A: view

Phenotypes for FAM135A Gene

genes like me logo Genes that share phenotypes with FAM135A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM135A Gene

Localization for FAM135A 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 FAM135A gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM135A Gene

Pathways & Interactions for FAM135A Gene

SuperPathways for FAM135A Gene

No Data Available

Interacting Proteins for FAM135A Gene

Selected Interacting proteins: Q9P2D6-F135A_HUMAN for FAM135A Gene via IID

Symbol External ID(s) Details
PCBD1

Gene Ontology (GO) - Biological Process for FAM135A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044255 cellular lipid metabolic process IBA --
genes like me logo Genes that share ontologies with FAM135A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM135A Gene

Drugs & Compounds for FAM135A Gene

No Compound Related Data Available

Transcripts for FAM135A Gene

Unigene Clusters for FAM135A Gene

Family with sequence similarity 135, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM135A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21a ·
SP1: - - -
SP2: - - - -
SP3: -
SP4: -
SP5: - -
SP6:
SP7:
SP8:

ExUns: 21b ^ 22a · 22b ^ 23a · 23b
SP1: -
SP2: -
SP3:
SP4: -
SP5: - -
SP6:
SP7:
SP8:

Relevant External Links for FAM135A Gene

GeneLoc Exon Structure for
FAM135A
ECgene alternative splicing isoforms for
FAM135A

Expression for FAM135A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM135A Gene

mRNA differential expression in normal tissues according to GTEx for FAM135A Gene

This gene is overexpressed in Esophagus - Mucosa (x4.8).

Protein differential expression in normal tissues from HIPED for FAM135A Gene

This gene is overexpressed in Testis (58.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM135A Gene



Protein tissue co-expression partners for FAM135A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM135A Gene:

FAM135A

SOURCE GeneReport for Unigene cluster for FAM135A Gene:

Hs.211700

mRNA Expression by UniProt/SwissProt for FAM135A Gene:

Q9P2D6-F135A_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for FAM135A Gene

  • Nervous system(4.3)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with FAM135A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM135A Gene

Orthologs for FAM135A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM135A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM135A 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia FAM135A 33 34
  • 93.49 (n)
cow
(Bos Taurus)
Mammalia FAM135A 33 34
  • 89.52 (n)
mouse
(Mus musculus)
Mammalia Fam135a 33 16 34
  • 87.39 (n)
rat
(Rattus norvegicus)
Mammalia Fam135a 33
  • 85.79 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM135A 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM135A 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM135A 33 34
  • 75.69 (n)
lizard
(Anolis carolinensis)
Reptilia FAM135A 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam135a 33
  • 68.7 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC566435 33
  • 62.32 (n)
fam135a 34
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32333 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C09D4.4 33 34
  • 45.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
Species where no ortholog for FAM135A 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)
  • 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)

Evolution for FAM135A Gene

ENSEMBL:
Gene Tree for FAM135A (if available)
TreeFam:
Gene Tree for FAM135A (if available)

Paralogs for FAM135A Gene

Paralogs for FAM135A Gene

(1) SIMAP similar genes for FAM135A Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FAM135A: view

Variants for FAM135A Gene

Sequence variations from dbSNP and Humsavar for FAM135A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs748520978 Likely benign 70,477,264(+) GATTA(C/G/T)TTCCA reference, synonymous-codon, utr-variant-5-prime
rs1000002185 -- 70,560,959(+) GTGCT(G/T)AATAG utr-variant-3-prime
rs1000013450 -- 70,450,945(+) ACCAT(A/G)TTGGC intron-variant
rs1000065402 -- 70,412,842(+) CGGAA(G/T)GTATT nc-transcript-variant, upstream-variant-2KB
rs1000086591 -- 70,458,514(+) ACACT(A/G)TTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM135A Gene

Variant ID Type Subtype PubMed ID
esv3609438 CNV loss 21293372
esv3609439 CNV loss 21293372
nsv1027049 CNV gain 25217958
nsv1027161 CNV loss 25217958
nsv1032876 CNV loss 25217958
nsv524328 CNV gain 19592680

Variation tolerance for FAM135A Gene

Residual Variation Intolerance Score: 23.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.18; 93.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM135A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM135A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM135A Gene

Disorders for FAM135A Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM135A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM135A

Genetic Association Database (GAD)
FAM135A
Human Genome Epidemiology (HuGE) Navigator
FAM135A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM135A
genes like me logo Genes that share disorders with FAM135A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM135A Gene

Publications for FAM135A Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 60

Products for FAM135A Gene

Sources for FAM135A Gene

Content
Loading form....