Aliases for FAM171A1 Gene

Aliases for FAM171A1 Gene

  • Family With Sequence Similarity 171 Member A1 2 3 5
  • Astroprincin 2 3 4
  • Protein FAM171A1 3 4
  • C10orf38 3 4
  • APCN 3 4
  • Family With Sequence Similarity 171, Member A1 2
  • Chromosome 10 Open Reading Frame 38 2

External Ids for FAM171A1 Gene

Previous HGNC Symbols for FAM171A1 Gene

  • C10orf38

Previous GeneCards Identifiers for FAM171A1 Gene

  • GC10M015294
  • GC10M015167

Summaries for FAM171A1 Gene

GeneCards Summary for FAM171A1 Gene

FAM171A1 (Family With Sequence Similarity 171 Member A1) is a Protein Coding gene. An important paralog of this gene is FAM171A2.

UniProtKB/Swiss-Prot Summary for FAM171A1 Gene

  • Involved in the regulation of the cytoskeletal dynamics, plays a role in actin stress fiber formation.

Additional gene information for FAM171A1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM171A1 Gene

Genomics for FAM171A1 Gene

GeneHancer (GH) Regulatory Elements for FAM171A1 Gene

Promoters and enhancers for FAM171A1 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
GH10J015368 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 516.8 +1.0 989 3.4 CTCF ZBTB10 ZNF423 ZBTB26 ZBTB7A ZKSCAN8 POLR2A SIN3A KDM5B KAT7 FAM171A1 piR-61101-044
GH10J015344 Enhancer 1.3 FANTOM5 Ensembl ENCODE 23.2 +25.4 25388 3.8 EP300 FOXK2 NCOR1 KDM6A TCF7 FOXA1 ZBTB25 TGIF2 MYC TEAD1 FAM171A1 NMT2 piR-61101-044
GH10J015333 Enhancer 1 Ensembl ENCODE 20.8 +36.6 36592 3.4 NCOR1 KDM6A TCF7 TGIF2 TEAD1 ATF2 FOXA2 NR2F2 SAP130 POLR2A FAM171A1 piR-61101-044
GH10J015325 Enhancer 1 Ensembl ENCODE 20.4 +45.6 45588 3.4 JUND FOS CTBP1 MBD2 NEUROD1 NFIC FOSL1 MYNN GABPA REST FAM171A1 piR-61101-044
GH10J015312 Enhancer 1.1 ENCODE CraniofacialAtlas 19.6 +57.3 57303 2 GTF2E2 ZBTB11 AFF1 TOE1 MYC CTBP1 MXI1 HDAC3 NR2F2 NCOR1 FAM171A1 piR-61101-044
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM171A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM171A1

Top Transcription factor binding sites by QIAGEN in the FAM171A1 gene promoter:
  • aMEF-2
  • AP-2gamma
  • Egr-3
  • HNF-3beta
  • MEF-2A
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • Sox9

Genomic Locations for FAM171A1 Gene

Genomic Locations for FAM171A1 Gene
chr10:15,211,643-15,371,289
(GRCh38/hg38)
Size:
159,647 bases
Orientation:
Minus strand
chr10:15,253,642-15,413,061
(GRCh37/hg19)
Size:
159,420 bases
Orientation:
Minus strand

Genomic View for FAM171A1 Gene

Genes around FAM171A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM171A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM171A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM171A1 Gene

Proteins for FAM171A1 Gene

  • Protein details for FAM171A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VUB5-F1711_HUMAN
    Recommended name:
    Protein FAM171A1
    Protein Accession:
    Q5VUB5
    Secondary Accessions:
    • D3DRT9
    • Q32M49
    • Q8N4I0

    Protein attributes for FAM171A1 Gene

    Size:
    890 amino acids
    Molecular mass:
    97854 Da
    Quaternary structure:
    • Interacts with ADAM10, NSG1 and OAZ1.

neXtProt entry for FAM171A1 Gene

Post-translational modifications for FAM171A1 Gene

  • Glycosylation at Asn159, Asn190, and Asn194
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM171A1 Gene

No data available for DME Specific Peptides for FAM171A1 Gene

Domains & Families for FAM171A1 Gene

Gene Families for FAM171A1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FAM171A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM171A1 Gene

GenScript: Design optimal peptide antigens:
  • Astroprincin (F1711_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VUB5

UniProtKB/Swiss-Prot:

F1711_HUMAN :
  • Belongs to the FAM171 family.
Family:
  • Belongs to the FAM171 family.
genes like me logo Genes that share domains with FAM171A1: view

Function for FAM171A1 Gene

Molecular function for FAM171A1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of the cytoskeletal dynamics, plays a role in actin stress fiber formation.

Phenotypes From GWAS Catalog for FAM171A1 Gene

Gene Ontology (GO) - Molecular Function for FAM171A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 30312582
genes like me logo Genes that share ontologies with FAM171A1: view

Animal Model Products

CRISPR Products

miRNA for FAM171A1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM171A1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM171A1 Gene

Localization for FAM171A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM171A1 Gene

Cell membrane; Single-pass type I 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 FAM171A1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 0
peroxisome 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM171A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IDA 30312582
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM171A1: view

Pathways & Interactions for FAM171A1 Gene

PathCards logo

SuperPathways for FAM171A1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM171A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008360 regulation of cell shape IMP 30312582
GO:0043149 stress fiber assembly IMP 30312582
genes like me logo Genes that share ontologies with FAM171A1: view

No data available for Pathways by source and SIGNOR curated interactions for FAM171A1 Gene

Drugs & Compounds for FAM171A1 Gene

No Compound Related Data Available

Transcripts for FAM171A1 Gene

mRNA/cDNA for FAM171A1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 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 FAM171A1

Alternative Splicing Database (ASD) splice patterns (SP) for FAM171A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: - -
SP2:
SP3: - -
SP4:

Relevant External Links for FAM171A1 Gene

GeneLoc Exon Structure for
FAM171A1

Expression for FAM171A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM171A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM171A1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.5), Brain - Putamen (basal ganglia) (x4.2), Brain - Nucleus accumbens (basal ganglia) (x4.1), and Brain - Caudate (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for FAM171A1 Gene

This gene is overexpressed in Frontal cortex (26.6), Bone (19.2), Spinal cord (8.5), and Fetal Brain (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM171A1 Gene



Protein tissue co-expression partners for FAM171A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM171A1

SOURCE GeneReport for Unigene cluster for FAM171A1 Gene:

Hs.66762

mRNA Expression by UniProt/SwissProt for FAM171A1 Gene:

Q5VUB5-F1711_HUMAN
Tissue specificity: Expressed in heart, brain, liver, skeletal muscle, kidney and pancreas (PubMed:30312582). In brain, expressed by glia, pyramidal neurons and astrocytes (at protein level) (PubMed:30312582). Highly expressed in placental trophoblasts (PubMed:30312582).

Evidence on tissue expression from TISSUES for FAM171A1 Gene

  • Nervous system(5)
  • Kidney(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with FAM171A1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM171A1 Gene

Orthologs for FAM171A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM171A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM171A1 31 30
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C13H10ORF38 31
  • 91 (a)
OneToOne
FAM171A1 30
  • 86.44 (n)
dog
(Canis familiaris)
Mammalia FAM171A1 31 30
  • 87.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam171a1 17 31 30
  • 86.44 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM171A1 31
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam171a1 30
  • 84.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM171A1 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM171A1 31 30
  • 76.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM171A1 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam171a1 30
  • 70.73 (n)
zebrafish
(Danio rerio)
Actinopterygii fam171a1 31 30
  • 59.45 (n)
OneToOne
Species where no ortholog for FAM171A1 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 FAM171A1 Gene

ENSEMBL:
Gene Tree for FAM171A1 (if available)
TreeFam:
Gene Tree for FAM171A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM171A1: view image

Paralogs for FAM171A1 Gene

Paralogs for FAM171A1 Gene

(4) SIMAP similar genes for FAM171A1 Gene using alignment to 3 proteins:

  • F1711_HUMAN
  • L8E7C4_HUMAN
  • Q5SW12_HUMAN
genes like me logo Genes that share paralogs with FAM171A1: view

Variants for FAM171A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM171A1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs3814165 - p.Pro465Ser

Additional dbSNP identifiers (rs#s) for FAM171A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM171A1 Gene

Variant ID Type Subtype PubMed ID
esv1057266 CNV insertion 17803354
esv1481642 CNV deletion 17803354
esv2080157 CNV deletion 18987734
esv2502312 CNV deletion 19546169
esv2733528 CNV deletion 23290073
esv2733539 CNV deletion 23290073
esv2733550 CNV deletion 23290073
esv3622441 CNV loss 21293372
esv3622442 CNV loss 21293372
esv4462 CNV loss 18987735
nsv1068676 CNV deletion 25765185
nsv1069455 CNV deletion 25765185
nsv1115157 CNV deletion 24896259
nsv1118161 CNV deletion 24896259
nsv1132838 CNV insertion 24896259
nsv1135770 CNV deletion 24896259
nsv1150152 CNV deletion 26484159
nsv1151586 CNV insertion 26484159
nsv1152247 CNV insertion 26484159
nsv466755 CNV gain 19166990
nsv466756 CNV loss 19166990
nsv472939 CNV novel sequence insertion 20440878
nsv509344 CNV insertion 20534489
nsv523449 CNV loss 19592680
nsv550016 CNV gain 21841781
nsv550017 CNV loss 21841781
nsv5921 CNV insertion 18451855
nsv956150 CNV deletion 24416366

Variation tolerance for FAM171A1 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.89; 79.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM171A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM171A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM171A1 Gene

Disorders for FAM171A1 Gene

Additional Disease Information for FAM171A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FAM171A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM171A1 Gene

Publications for FAM171A1 Gene

  1. Astroprincin (FAM171A1, C10orf38): A Regulator of Human Cell Shape and Invasive Growth. (PMID: 30312582) Rasila T … Andersson LC (The American journal of pathology 2019) 2 3 4 54
  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 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54

Products for FAM171A1 Gene

Sources for FAM171A1 Gene