Aliases for FAM189A1 Gene

Aliases for FAM189A1 Gene

  • Family With Sequence Similarity 189 Member A1 2 3 5
  • Transmembrane Protein 228 2 3 4
  • Protein FAM189A1 3 4
  • TMEM228 3 4
  • Family With Sequence Similarity 189, Member A1 2
  • KIAA0574 4

External Ids for FAM189A1 Gene

Previous GeneCards Identifiers for FAM189A1 Gene

  • GC15M029412
  • GC15M007069

Summaries for FAM189A1 Gene

GeneCards Summary for FAM189A1 Gene

FAM189A1 (Family With Sequence Similarity 189 Member A1) is a Protein Coding gene. Diseases associated with FAM189A1 include Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome. An important paralog of this gene is FAM189B.

Additional gene information for FAM189A1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM189A1 Gene

Genomics for FAM189A1 Gene

GeneHancer (GH) Regulatory Elements for FAM189A1 Gene

Promoters and enhancers for FAM189A1 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
GH15J029674 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.1 -104.6 -104617 2.5 POLR2A ZNF148 SP5 GLIS2 ZIC2 GTF2E2 REST SP2 ZBTB20 SCRT2 ENSG00000256802 LOC100130111 FAM189A1 lnc-TJP1-3
GH15J029570 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 750.6 -0.1 -78 2.4 ZBTB6 GLIS2 ZBTB8A POLR2A PATZ1 ZNF692 ZNF561 ZBTB20 EZH2 ZBTB48 FAM189A1 lnc-NSMCE3-2 HMGN2P5 HSALNG0104717
GH15J029114 Promoter/Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 3.9 +455.3 455279 1.7 CTCF EGR1 POLR2A TARDBP USF1 ZNF18 ZFHX2 ENSG00000270301 FAM189A1 piR-39858-197 piR-50437-199 APBA2
GH15J029470 Enhancer 0.8 Ensembl ENCODE 4.7 +99.4 99422 2.2 SREBF1 SP1 CREB1 RXRA ZSCAN4 ZNF629 RFX1 FOXA1 HNF4A FOS FAM189A1 piR-60967 piR-41594-018 lnc-NSMCE3-2
GH15J029437 Enhancer 0.7 ENCODE 4.2 +132.2 132228 1.9 FOXA1 NR2F6 ZNF217 RAD21 SP1 RXRA CTBP1 ZSCAN4 FOXA2 JUND FAM189A1 piR-41594-018 piR-60967 lnc-NSMCE3-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM189A1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAM189A1 Gene

Genomic Locations for FAM189A1 Gene
chr15:29,120,252-29,570,723
(GRCh38/hg38)
Size:
450,472 bases
Orientation:
Minus strand
chr15:29,412,455-29,862,927
(GRCh37/hg19)
Size:
450,473 bases
Orientation:
Minus strand

Genomic View for FAM189A1 Gene

Genes around FAM189A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM189A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM189A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM189A1 Gene

Proteins for FAM189A1 Gene

  • Protein details for FAM189A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60320-F1891_HUMAN
    Recommended name:
    Protein FAM189A1
    Protein Accession:
    O60320
    Secondary Accessions:
    • A0PK09

    Protein attributes for FAM189A1 Gene

    Size:
    539 amino acids
    Molecular mass:
    56544 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BC127817; Type=Frameshift; Positions=177; Evidence={ECO:0000305}; Sequence=BG752856; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM189A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM189A1 Gene

Post-translational modifications for FAM189A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM189A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM189A1 Gene

Domains & Families for FAM189A1 Gene

Gene Families for FAM189A1 Gene

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

Protein Domains for FAM189A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM189A1 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 228 (F1891_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60320

UniProtKB/Swiss-Prot:

F1891_HUMAN :
  • Belongs to the FAM189 family.
Family:
  • Belongs to the FAM189 family.
genes like me logo Genes that share domains with FAM189A1: view

Function for FAM189A1 Gene

Phenotypes From GWAS Catalog for FAM189A1 Gene

Phenotypes for FAM189A1 Gene

genes like me logo Genes that share phenotypes with FAM189A1: view

Animal Model Products

CRISPR Products

miRNA for FAM189A1 Gene

miRTarBase miRNAs that target FAM189A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM189A1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM189A1 Gene

Localization for FAM189A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM189A1 Gene

Membrane; Multi-pass membrane protein.

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 FAM189A1 gene
Compartment Confidence
plasma membrane 2
nucleus 2
mitochondrion 0
lysosome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM189A1 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 FAM189A1: view

Pathways & Interactions for FAM189A1 Gene

PathCards logo

SuperPathways for FAM189A1 Gene

No Data Available

Interacting Proteins for FAM189A1 Gene

Selected Interacting proteins: O60320-F1891_HUMAN for FAM189A1 Gene via IID

Gene Ontology (GO) - Biological Process for FAM189A1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM189A1 Gene

Drugs & Compounds for FAM189A1 Gene

No Compound Related Data Available

Transcripts for FAM189A1 Gene

mRNA/cDNA for FAM189A1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(4) 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 FAM189A1

Alternative Splicing Database (ASD) splice patterns (SP) for FAM189A1 Gene

No ASD Table

Relevant External Links for FAM189A1 Gene

GeneLoc Exon Structure for
FAM189A1
ECgene alternative splicing isoforms for
FAM189A1

Expression for FAM189A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM189A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM189A1 Gene

This gene is overexpressed in Brain - Hippocampus (x6.5), Brain - Cortex (x5.4), Brain - Anterior cingulate cortex (BA24) (x5.2), Brain - Amygdala (x5.0), and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for FAM189A1 Gene

This gene is overexpressed in Bone (46.8) and Colon muscle (22.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM189A1 Gene



Protein tissue co-expression partners for FAM189A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM189A1 Gene:

FAM189A1

SOURCE GeneReport for Unigene cluster for FAM189A1 Gene:

Hs.383564

Evidence on tissue expression from TISSUES for FAM189A1 Gene

  • Nervous system(4.5)
  • Eye(4)
genes like me logo Genes that share expression patterns with FAM189A1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM189A1 Gene

Orthologs for FAM189A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM189A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM189A1 33 32
  • 90.95 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM189A1 33 32
  • 82.99 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam189a1 32
  • 81.91 (n)
mouse
(Mus musculus)
Mammalia Fam189a1 17 33 32
  • 81.19 (n)
cow
(Bos Taurus)
Mammalia FAM189A1 33 32
  • 81.06 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM189A1 33
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM189A1 33
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM189A1 33 32
  • 68.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM189A1 33
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam189a1 32
  • 67.13 (n)
zebrafish
(Danio rerio)
Actinopterygii fam189a1 33 32
  • 62.72 (n)
OneToOne
Species where no ortholog for FAM189A1 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 FAM189A1 Gene

ENSEMBL:
Gene Tree for FAM189A1 (if available)
TreeFam:
Gene Tree for FAM189A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM189A1: view image

Paralogs for FAM189A1 Gene

Paralogs for FAM189A1 Gene

(1) SIMAP similar genes for FAM189A1 Gene using alignment to 2 proteins:

  • F1891_HUMAN
  • H0YKM1_HUMAN
genes like me logo Genes that share paralogs with FAM189A1: view

Variants for FAM189A1 Gene

Sequence variations from dbSNP and Humsavar for FAM189A1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs199905054 pathogenic, Lung damage, immunodeficiency and chromosome breakage syndrome, Lung disease, immunodeficiency, and chromosome breakage syndrome 29,268,916(-) G/A intron_variant
rs886037827 pathogenic, Lung damage, immunodeficiency and chromosome breakage syndrome, Lung disease, immunodeficiency, and chromosome breakage syndrome 29,269,080(-) G/A intron_variant
rs1000002397 -- 29,281,116(-) A/G intron_variant
rs1000013013 -- 29,182,840(-) AAAAAAAAA/AAAAAAAA/AAAAAAAAAA intron_variant
rs1000013917 -- 29,204,842(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM189A1 Gene

Variant ID Type Subtype PubMed ID
dgv303n27 CNV loss 19166990
dgv429n67 CNV gain 20364138
esv1396021 CNV insertion 17803354
esv2514398 CNV insertion 19546169
esv2525505 CNV deletion 19546169
esv2527875 CNV loss 19546169
esv2560892 CNV insertion 19546169
esv2658156 CNV deletion 23128226
esv2668832 CNV deletion 23128226
esv2669303 CNV deletion 23128226
esv2676098 CNV deletion 23128226
esv2751526 CNV loss 17911159
esv2761799 CNV loss 21179565
esv2761859 CNV loss 21179565
esv3305740 CNV mobile element insertion 20981092
esv3345970 CNV insertion 20981092
esv33949 CNV loss 17666407
esv3405570 CNV insertion 20981092
esv3414697 CNV duplication 20981092
esv3552257 CNV deletion 23714750
esv3636010 CNV loss 21293372
esv3636011 CNV gain 21293372
esv3636012 CNV loss 21293372
esv3636013 CNV loss 21293372
esv3636014 CNV gain 21293372
esv3636015 CNV loss 21293372
esv8630 CNV gain 19470904
esv987980 CNV insertion 20482838
nsv1039798 CNV gain 25217958
nsv1040778 CNV loss 25217958
nsv1043870 CNV gain 25217958
nsv1070689 CNV deletion 25765185
nsv1148560 OTHER inversion 26484159
nsv1474 CNV insertion 18451855
nsv471232 CNV loss 18288195
nsv472147 CNV novel sequence insertion 20440878
nsv475581 CNV novel sequence insertion 20440878
nsv479585 CNV novel sequence insertion 20440878
nsv479980 CNV novel sequence insertion 20440878
nsv480089 CNV novel sequence insertion 20440878
nsv480299 CNV novel sequence insertion 20440878
nsv511043 OTHER complex 20534489
nsv513425 CNV insertion 21212237
nsv513426 CNV insertion 21212237
nsv515660 CNV gain 19592680
nsv515798 CNV gain+loss 19592680
nsv522597 CNV loss 19592680
nsv524362 CNV loss 19592680
nsv525604 CNV gain 19592680
nsv527255 CNV gain 19592680
nsv568675 CNV gain 21841781
nsv568678 CNV loss 21841781
nsv568679 CNV loss 21841781
nsv568680 CNV loss 21841781
nsv827268 CNV gain 20364138
nsv827271 CNV gain 20364138
nsv832943 CNV gain+loss 17160897
nsv832944 CNV gain+loss 17160897
nsv9228 CNV loss 18304495
nsv9229 CNV gain 18304495
nsv94404 CNV deletion 16902084
nsv99 CNV insertion 15895083

Variation tolerance for FAM189A1 Gene

Gene Damage Index Score: 6.61; 78.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM189A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM189A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM189A1 Gene

Disorders for FAM189A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM189A1 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM189A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM189A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM189A1 Gene

Publications for FAM189A1 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
  2. Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias. (PMID: 22247754) Murray SS … GAME Investigators (PloS one 2012) 3 43 56
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  4. 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 43 56
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 4 56

Products for FAM189A1 Gene

Sources for FAM189A1 Gene