Aliases for FAM135A Gene

Aliases for FAM135A Gene

  • Family With Sequence Similarity 135 Member A 2 3 5
  • KIAA1411 2 3 4
  • Protein FAM135A 3 4
  • Family With Sequence Similarity 135, Member A 2
  • FLJ20176 2
  • FAM135A 5

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 Myeloma, Multiple and Retinitis Pigmentosa 25. Gene Ontology (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 Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM135A Gene

Genomics for FAM135A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM135A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J070410 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.7 685 5.3 BRCA1 ARHGAP35 SP1 CREB1 ATF7 PRDM10 ZNF629 REST ZNF512 SIX5 FAM135A FAM135A-AS1 lnc-SDHAF4-1 ENSG00000237643 SDHAF4 lnc-FAM135A-3
GH06J070390 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.4 -17.4 -17369 10.6 ARHGAP35 GATAD2A REST ZNF512 SOX13 JUND DDX20 PRDM1 MTA2 PKNOX1 ENSG00000237643 EVADR FAM135A SDHAF4 LOC105377847 lnc-FAM135A-4 COL9A1
GH06J071072 Enhancer 0.7 Ensembl 10.2 +659.9 659860 0.8 ZNF629 PRDM1 ZNF600 ZBTB44 RBAK ZBTB17 WT1 ZNF184 ZNF189 HIC1 FAM135A BECN1P2 piR-41405-053 B3GAT2 OGFRL1
GH06J070474 Enhancer 0.5 Ensembl ENCODE 10.9 +62.0 61960 1 USF1 JUND RNU7-48P FAM135A FAM135A-AS1 lnc-SDHAF4-7 piR-40497-056 SDHAF4
GH06J070575 Enhancer 0.5 Ensembl 10.6 +162.9 162860 2.8 KDM1A PRDM1 TCF7L2 CEBPB CEBPG KLF1 ZMYM3 ZNF121 FAM135A FAM135A-AS1 ENSG00000237643 SDHAF4 HSALNG0051143 ENSG00000271967 SMAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM135A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM135A

Top Transcription factor binding sites by QIAGEN in the FAM135A gene promoter:
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • POU6F1 (c2)
  • SRY
  • STAT1
  • STAT2
  • STAT3

Genomic Locations for FAM135A Gene

Genomic Locations for FAM135A Gene
chr6:70,412,941-70,561,174
(GRCh38/hg38)
Size:
148,234 bases
Orientation:
Plus strand
chr6:71,122,644-71,270,877
(GRCh37/hg19)
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};

    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:
  • Protein FAM135A (F135A_HUMAN)
  • KIAA1411 (Q5JXJ9_HUMAN)

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM135A

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 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 2
mitochondrion 0

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

PathCards logo

SuperPathways for FAM135A Gene

No Data Available

Interacting Proteins for FAM135A Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000410768 Q9P2D6-F135A_HUMAN for FAM135A Gene via STRING IID

Gene Ontology (GO) - Biological Process for FAM135A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044255 cellular lipid metabolic process IBA 21873635
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

mRNA/cDNA for FAM135A Gene

21 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM135A

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

Expression for FAM135A Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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

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 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM135A 30 31
  • 93.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM135A 30 31
  • 89.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam135a 30 17 31
  • 87.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam135a 30
  • 85.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM135A 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM135A 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM135A 30 31
  • 75.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM135A 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam135a 30
  • 68.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC566435 30
  • 62.32 (n)
fam135a 31
  • 57 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG32333 31
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C09D4.4 30 31
  • 45.38 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
Species where no ortholog for FAM135A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM135A: view image

Paralogs for FAM135A Gene

Paralogs for FAM135A Gene

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

  • F135A_HUMAN
  • D6RC17_HUMAN
  • D6RCC7_HUMAN
  • D6REA8_HUMAN
  • D6RFG9_HUMAN
  • H7BXC5_HUMAN
genes like me logo Genes that share paralogs with FAM135A: view

Variants for FAM135A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM135A Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs748520978 Likely Benign: Histiocytoid cardiomyopathy 70,477,264(+) C/G NONSENSE,FIVE_PRIME_UTR_VARIANT
rs16869301 - p.Pro954Ser
rs2747701 - p.Asp1242Gly
rs9455142 - p.Ile725Val

Additional dbSNP identifiers (rs#s) for FAM135A Gene

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)

Additional Variant Information 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

(4) MalaCards diseases for FAM135A Gene - From: LncRNADisease, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myeloma, multiple
  • multiple myeloma, susceptibility to
retinitis pigmentosa 25
  • rp25
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM135A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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 41
  3. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for FAM135A Gene

Sources for FAM135A Gene