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

Gene ID: 92345, updated on 18-Sep-2022

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; AllianceGenome:HGNC:25126
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
Summary
Enables identical protein binding activity and telomerase RNA binding activity. Involved in regulation of nucleobase-containing compound metabolic process; ribosome biogenesis; and telomerase holoenzyme complex assembly. Located in nucleoplasm. Part of sno(s)RNA-containing ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 1.9), endometrium (RPKM 1.8) and 25 other tissues See more
Orthologs
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Genomic context

See NAF1 in Genome Data Viewer
Location:
4q32.2
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (163103929..163166890, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (166474580..166514759, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (164047860..164088042, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377516 Neighboring gene uncharacterized LOC101928081 Neighboring gene microRNA 4454 Neighboring gene Sharpr-MPRA regulatory region 7208 Neighboring gene uncharacterized LOC105377517 Neighboring gene mitochondrial ribosomal protein S5 pseudogene

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables telomerase RNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
part_of sno(s)RNA-containing ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of sno(s)RNA-containing 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)

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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_001128931.2NP_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
    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
    E9PAZ2, 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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    163103929..163166890 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532410.4XP_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
    E9PAZ2, Q96HR8
    Conserved Domains (1) summary
    pfam04410
    Location:180328
    Gar1; Gar1/Naf1 RNA binding region
  2. XM_047416407.1XP_047272363.1  H/ACA ribonucleoprotein complex non-core subunit NAF1 isoform X2

  3. XM_047416408.1XP_047272364.1  H/ACA ribonucleoprotein complex non-core subunit NAF1 isoform X2

RNA

  1. XR_938799.4 RNA Sequence

  2. XR_938798.4 RNA Sequence

  3. XR_001741350.3 RNA Sequence

  4. XR_001741349.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    166474580..166514759 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)