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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
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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

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