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NAF1 nuclear assembly factor 1 ribonucleoprotein [ Homo sapiens (human) ]

Gene ID: 92345, updated on 12-May-2019

Summary

Official Symbol
NAF1provided by HGNC
Official Full Name
nuclear assembly factor 1 ribonucleoproteinprovided by HGNC
Primary source
HGNC:HGNC:25126
See related
Ensembl:ENSG00000145414 MIM:617868
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
Expression
Ubiquitous expression in testis (RPKM 1.9), endometrium (RPKM 1.8) and 25 other tissues See more
Orthologs

Genomic context

See NAF1 in Genome Data Viewer
Location:
4q32.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (163109133..163166921, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (164047860..164088073, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377516 Neighboring gene uncharacterized LOC101928081 Neighboring gene microRNA 4454 Neighboring gene uncharacterized LOC105377517 Neighboring gene mitochondrial ribosomal protein S5 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study.
NHGRI GWA Catalog
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
telomerase RNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
box H/ACA snoRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
box H/ACA snoRNP assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
box H/ACA snoRNP assembly TAS
Traceable Author Statement
more info
PubMed 
positive regulation of telomerase RNA localization to Cajal body HMP PubMed 
positive regulation of telomerase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of telomere maintenance via telomerase TAS
Traceable Author Statement
more info
PubMed 
positive regulation of telomere maintenance via telomere lengthening IMP
Inferred from Mutant Phenotype
more info
PubMed 
ribosome biogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribosome biogenesis IDA
Inferred from Direct Assay
more info
PubMed 
snoRNA guided rRNA pseudouridine synthesis ISS
Inferred from Sequence or Structural Similarity
more info
 
telomerase RNA stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomerase holoenzyme complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
small nucleolar ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
small nucleolar ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
H/ACA ribonucleoprotein complex non-core subunit NAF1
Names
nuclear assembly factor 1 homolog

NCBI Reference Sequences (RefSeq)

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_001128931.1NP_001122403.1  H/ACA ribonucleoprotein complex non-core subunit NAF1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate exon in the 3' terminus, compared to variant 1, which results in a protein (isoform B) with a shorter and distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AK308601, BC008207
    Consensus CDS
    CCDS47159.1
    UniProtKB/Swiss-Prot
    Q96HR8
    Related
    ENSP00000408963.2, ENST00000422287.6
    Conserved Domains (1) summary
    pfam04410
    Location:180328
    Gar1; Gar1/Naf1 RNA binding region
  2. NM_138386.3NP_612395.2  H/ACA ribonucleoprotein complex non-core subunit NAF1 isoform a

    See identical proteins and their annotated locations for NP_612395.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).
    Source sequence(s)
    AK308601, BC008207
    Consensus CDS
    CCDS3803.1
    UniProtKB/Swiss-Prot
    Q96HR8
    Related
    ENSP00000274054.2, ENST00000274054.3
    Conserved Domains (1) summary
    pfam04410
    Location:180328
    Gar1; Gar1/Naf1 RNA binding region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    163109133..163166921 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532410.3XP_011530712.1  H/ACA ribonucleoprotein complex non-core subunit NAF1 isoform X1

    See identical proteins and their annotated locations for XP_011530712.1

    UniProtKB/Swiss-Prot
    Q96HR8
    Conserved Domains (1) summary
    pfam04410
    Location:180328
    Gar1; Gar1/Naf1 RNA binding region
  2. XM_011532411.3XP_011530713.1  H/ACA ribonucleoprotein complex non-core subunit NAF1 isoform X2

    Conserved Domains (1) summary
    pfam04410
    Location:2126
    Gar1; Gar1/Naf1 RNA binding region

RNA

  1. XR_938799.3 RNA Sequence

  2. XR_938796.3 RNA Sequence

  3. XR_938798.3 RNA Sequence

  4. XR_001741350.2 RNA Sequence

  5. XR_938797.3 RNA Sequence

  6. XR_001741349.2 RNA Sequence

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