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    FAM171A1 family with sequence similarity 171 member A1 [ Homo sapiens (human) ]

    Gene ID: 221061, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FAM171A1provided by HGNC
    Official Full Name
    family with sequence similarity 171 member A1provided by HGNC
    Primary source
    HGNC:HGNC:23522
    See related
    Ensembl:ENSG00000148468 AllianceGenome:HGNC:23522
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APCN; C10orf38
    Summary
    Involved in regulation of cell shape and stress fiber assembly. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 24.6), kidney (RPKM 14.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM171A1 in Genome Data Viewer
    Location:
    10p13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (15211643..15374554, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (15229953..15392762, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (15253642..15413288, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376434 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:15242369-15243568 Neighboring gene uncharacterized LOC107984211 Neighboring gene uncharacterized LOC105376433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:15290229-15290730 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:15297713-15298356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:15310079-15310579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3094 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:15366997-15368196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2173 Neighboring gene Sharpr-MPRA regulatory region 1502 Neighboring gene MPRA-validated peak874 silencer Neighboring gene Sharpr-MPRA regulatory region 6046 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:15514928-15515649 Neighboring gene MPRA-validated peak875 silencer Neighboring gene integrin subunit alpha 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2174 Neighboring gene Sharpr-MPRA regulatory region 12763 Neighboring gene Sharpr-MPRA regulatory region 7083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:15731307-15731808 Neighboring gene MPRA-validated peak877 silencer Neighboring gene uncharacterized LOC124902383 Neighboring gene MPRA-validated peak878 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3095 Neighboring gene MINDY lysine 48 deubiquitinase 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Astroprincin (FAM171A1, C10orf38): A Regulator of Human Cell Shape and Invasive Growth. Rasila T, et al. Am J Pathol, 2019 Jan. PMID 30312582
    2. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. Goldstein JI, et al. Nat Commun, 2014 Sep 4. PMID 25187353, Free PMC Article
    3. The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. O'Loughlin T, et al. EMBO Rep, 2018 Apr. PMID 29467281, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    5. C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy. Yan BR, et al. Autophagy, 2022 Apr. PMID 34432599, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. APCN regulates the dynamics of the actin cytoskeletal and, thereby, the cell shape and invasive growth potential of tumor cells.
      Title: Astroprincin (FAM171A1, C10orf38): A Regulator of Human Cell Shape and Invasive Growth.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12884, MGC130014, MGC130015

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in stress fiber assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM171A1
    Names
    astroprincin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001010924.2 → NP_001010924.1  protein FAM171A1 precursor

      See identical proteins and their annotated locations for NP_001010924.1

      Status: VALIDATED

      Source sequence(s)
      AK022946, AL050367, AL139338, BC034232, BX496483
      Consensus CDS
      CCDS31154.1
      UniProtKB/Swiss-Prot
      D3DRT9, Q32M49, Q5VUB5, Q8N4I0
      UniProtKB/TrEMBL
      Q9Y438
      Related
      ENSP00000367356.4, ENST00000378116.9
      Conserved Domains (1) summary
      pfam10577
      Location:34 → 888
      UPF0560; Uncharacterized protein family UPF0560

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      15211643..15374554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015904.2 → XP_016871393.1  protein FAM171A1 isoform X2

      UniProtKB/TrEMBL
      Q9Y438

    2. XM_011519378.3 → XP_011517680.1  protein FAM171A1 isoform X1

      UniProtKB/TrEMBL
      Q9Y438
      Conserved Domains (1) summary
      pfam10577
      Location:21 → 875
      UPF0560; uncharacterized protein family UPF0560

    3. XM_047424776.1 → XP_047280732.1  protein FAM171A1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      15229953..15392762 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365106.1 → XP_054221081.1  protein FAM171A1 isoform X2

    2. XM_054365105.1 → XP_054221080.1  protein FAM171A1 isoform X1

    3. XM_054365107.1 → XP_054221082.1  protein FAM171A1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VUB5.1 GenPept UniProtKB/Swiss-Prot:Q5VUB5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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