Naf1 MGI Mouse Gene Detail - MGI:2682306 - nuclear assembly factor 1 ribonucleoprotein

Symbol

Naf1
Name

nuclear assembly factor 1 ribonucleoprotein
Synonyms

LOC234344

Feature Type

protein coding gene
IDs

MGI:2682306
NCBI Gene: 234344
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr8:67312869-67343216 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 33.18 cM
Mapping Data

3 experiments

SNPs within 2kb

837 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2682306	protein coding gene	Chr8:67312594-67343216 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033655	protein coding gene	Chr8:66933092-66965225 (+)
A/J	MGP_AJ_G0033637	protein coding gene	Chr8:64182692-64212879 (+)
AKR/J	MGP_AKRJ_G0033562	protein coding gene	Chr8:65946212-65976392 (+)
BALB/cJ	MGP_BALBcJ_G0033633	protein coding gene	Chr8:64389837-64419177 (+)
C3H/HeJ	MGP_C3HHeJ_G0033343	protein coding gene	Chr8:66720911-66751123 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034150	protein coding gene	Chr8:69445256-69476676 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031097	protein coding gene	Chr8:59241391-59270317 (+)
CAST/EiJ	MGP_CASTEiJ_G0032668	protein coding gene	Chr8:66135684-66171613 (+)
CBA/J	MGP_CBAJ_G0033321	protein coding gene	Chr8:72032217-72067051 (+)
DBA/2J	MGP_DBA2J_G0033475	protein coding gene	Chr8:63922374-63953376 (+)
FVB/NJ	MGP_FVBNJ_G0033416	protein coding gene	Chr8:63126030-63156301 (+)
LP/J	MGP_LPJ_G0033563	protein coding gene	Chr8:66987265-67020114 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033460	protein coding gene	Chr8:74653044-74685129 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034168	protein coding gene	Chr8:66280216-66311439 (+)
PWK/PhJ	MGP_PWKPhJ_G0032377	protein coding gene	Chr8:63217375-63247804 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032213	protein coding gene	Chr8:65217279-65250937 (+)
WSB/EiJ	MGP_WSBEiJ_G0032785	protein coding gene	Chr8:66644251-66675030 (+)

Human Ortholog

NAF1, nuclear assembly factor 1 ribonucleoprotein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NAF1, nuclear assembly factor 1 ribonucleoprotein
Synonyms

PFBMFT7
Links

HGNC:25126

NCBI Gene ID: 92345

neXtProt AC: NX_Q96HR8

UniProt: Q96HR8
Chr Location

4q32.2; chr4:163103929-163166890 (-) GRCh38

MGI Vertebrate Homology

Naf1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NAF1
Gene Tree

Naf1

Diseases

1 with human NAF1 associations

				Human Disease	Mouse Models
				melanoma IDs melanoma DOID:1909 EFO:0000756 KEGG:05218 MESH:D008545 NCI:C3224 UMLS_CUI:C0025202

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
6 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

14
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

10
Genomic Mutations

1 involving Naf1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

35 strains or lines available

Mice homozygous for a knock-out allele exhibit complete embryonic lethality between implantation and placentation while heterozygotes show no evident ribosomal pathology.

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All GO Annotations

23
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

7

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase naf1

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All Sequences

41
RefSeq

6
UniProt

3
CCDS

CCDS52562.1

Ensembl

ENSMUSG00000014907 (Evidence)
NCBI Gene

234344

			Length	Strain/Species	Flank
genomic	ENSMUSG00000014907	Ensembl Gene Model \| MGI Sequence Detail	30348	C57BL/6J	± kb
transcript	ENSMUST00000118009	Ensembl \| MGI Sequence Detail	2990	Not Applicable
polypeptide	ENSMUSP00000112640	Ensembl \| MGI Sequence Detail	597	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000010958 H/ACA ribonucleoprotein complex non-core subunit NAF1

(term hierarchy)
InterPro Domains

IPR040309 H/ACA ribonucleoprotein complex non-core subunit Naf1

IPR007504 H/ACA ribonucleoprotein complex, subunit Gar1/Naf1

IPR038664 H/ACA RNP complex subunit Gar1/Naf1, Cbf5-binding domain

IPR009000 Translation protein, beta-barrel domain superfamily

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All nucleic 7

cDNA 7

Microarray probesets 1

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MGI:2685020

Summaries

All 27

Gene Ontology 4

Phenotypes 6
Earliest

J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
Latest

J:237554 Stanley SE, et al., Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema. Sci Transl Med. 2016 Aug 10;8(351):351ra107

TSS for Naf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr77584	Chr8:67312867-67312939 (+)	34 bp
Tssr77585	Chr8:67312946-67312966 (+)	87 bp
Tssr77586	Chr8:67341887-67341900 (+)	29,025 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24