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    FSAF1 40S small subunit processome assembly factor 1 [ Homo sapiens (human) ]

    Gene ID: 128061, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FSAF1provided by HGNC
    Official Full Name
    40S small subunit processome assembly factor 1provided by HGNC
    Primary source
    HGNC:HGNC:25332
    See related
    Ensembl:ENSG00000143633 AllianceGenome:HGNC:25332
    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
    C1orf131
    Summary
    Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome. Part of small-subunit processome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 9.8), small intestine (RPKM 8.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FSAF1 in Genome Data Viewer
    Location:
    1q42.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (231223765..231241175, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (230607028..230624438, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231359511..231376921, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A like 4C pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:231298070-231298704 Neighboring gene tripartite motif containing 67 Neighboring gene NANOG hESC enhancer GRCh37_chr1:231319561-231320089 Neighboring gene TRIM67 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231350707-231351208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231352923-231353422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231356573-231357073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:231376971-231377860 Neighboring gene glyceronephosphate O-acyltransferase Neighboring gene RNA, 5S ribosomal pseudogene 80

    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 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. The Nucleolar Protein C1orf131 Is a Novel Gene Involved in the Progression of Lung Adenocarcinoma Cells through the AKT Signalling Pathway. Wei Z, et al. Int J Mol Sci, 2024 Jun 9. PMID 38928092, Free PMC Article
    2. The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. Ohta S, et al. Cell, 2010 Sep 3. PMID 20813266, Free PMC Article
    3. Nucleolar maturation of the human small subunit processome. Singh S, et al. Science, 2021 Sep 10. PMID 34516797, Free PMC Article
    4. Comprehensive Interactome Mapping of the DNA Repair Scaffold SLX4 Using Proximity Labeling and Affinity Purification. Aprosoff CM, et al. J Proteome Res, 2023 Jun 2. PMID 37071664, Free PMC Article
    5. Gene essentiality and synthetic lethality in haploid human cells. Blomen VA, et al. Science, 2015 Nov 27. PMID 26472760

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Nucleolar Protein C1orf131 Is a Novel Gene Involved in the Progression of Lung Adenocarcinoma Cells through the AKT Signalling Pathway.
      Title: The Nucleolar Protein C1orf131 Is a Novel Gene Involved in the Progression of Lung Adenocarcinoma Cells through the AKT Signalling Pathway.
    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

    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

    • DKFZp547B1713

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C1orf131

    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_001300830.2 → NP_001287759.1  uncharacterized protein C1orf131 isoform b

      See identical proteins and their annotated locations for NP_001287759.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AK055124, BC036800
      Consensus CDS
      CCDS73049.1
      UniProtKB/TrEMBL
      Q5TBI2
      Related
      ENSP00000355611.3, ENST00000366651.7
      Conserved Domains (1) summary
      pfam15375
      Location:135 → 251
      DUF4602; Domain of unknown function (DUF4602)

    2. NM_152379.4 → NP_689592.2  uncharacterized protein C1orf131 isoform a

      See identical proteins and their annotated locations for NP_689592.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represnts the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK055124, BC053609
      Consensus CDS
      CCDS1591.2
      UniProtKB/Swiss-Prot
      Q5TBI0, Q5TBI1, Q6P6B4, Q7Z6H5, Q8N432, Q8NDD1, Q96NM6
      UniProtKB/TrEMBL
      Q5TBI2
      Related
      ENSP00000355609.2, ENST00000366649.7
      Conserved Domains (1) summary
      pfam15375
      Location:135 → 252
      DUF4602; Domain of unknown function (DUF4602)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      231223765..231241175 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      230607028..230624438 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NDD1.4 GenPept UniProtKB/Swiss-Prot:Q8NDD1

    Gene LinkOut

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

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