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NAF1 Gene

protein-coding GIFtS: 44

GC04M164270

nuclear assembly factor 1 homolog (S. cerevisiae)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
KIAA0113 ^⁵
TNIP1 ^⁵
hNAF1 ^³

Descriptions
nuclear assembly factor 1 homolog ^²
nuclear assembly factor 1 homolog (S. cerevisiae) ^²

External Ids
HGNC: 25126¹
Entrez Gene: 92345²
UniProtKB: Q96HR8³
Ensembl: ENSG00000145414⁷

Search outside databases for aliases for NAF1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: NAF1_HUMAN, Q96HR8

Function: RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome

biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and

disapears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA

snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q32.2 Ensembl cytogenetic band: 4q32.2 HGNC cytogenetic band: 4q32.2

NAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M164270: (about GC identifiers)

Start:	164,269,271 bp from pter
End:	164,307,523 bp from pter
Size:	38,253 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000004.10 NT_016354.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: NAF1_HUMAN, Q96HR8 (See protein sequence)

Recommended Name: H/ACA ribonucleoprotein complex non-core subunit NAF1

Size: 494 amino acids; 53703 Da

Subunit: During assembly of the complex, component of the small nucleolar ribonucleoprotein

particles containing H/ACA-type snoRNAs (H/ACA snoRNPs) which contains NOLA2/NHP2, NOLA3/NOP10,

NAF1 and DKC1/NOLA4. Interacts directly with DKC1/NOLA4

Subcellular location: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus.

Absent from the nucleolus (By similarity)

PDB structures from and Proteopedia :

2EQN (3D)

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001122403.1 NP_612395.2

ENSEMBL proteins:

ENSP00000274054

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
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	Browse Abcam for Recombinant Proteins
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005732	small nucleolar ribonucleoprotein complex	IDA	16601202 17135485
GO:0005737	cytoplasm	IEA	--

About this table

Antibodies for NAF1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for NAF1

Assays for NAF1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q96HR8

ProtoNet protein and cluster: Q96HR8

UniProtKB/Swiss-Prot: NAF1_HUMAN, Q96HR8

Similarity: Belongs to the NAF1 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (NAF1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_138386

Applied Biosystems Silencer® siRNAs for NAF1

Sigma-Aldrich siRNA for NAF1

Sigma-Aldrich shRNA for NAF1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001128931
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001128931
untagged cDNA clones in CMV expression vector (see all 2): NM_001128931

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_138386

UniProtKB/Swiss-Prot: NAF1_HUMAN, Q96HR8

Function: RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome

biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and

disapears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA

snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003723	RNA binding	IDA	16618814
GO:0005515	protein binding	IPI	16601202 16618814

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for NAF1

1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006364	rRNA processing	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for NAF1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (NAF1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_138386

Sigma-Aldrich siRNA for NAF1

Sigma-Aldrich shRNA for NAF1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001128931 NM_138386

REFSEQ mRNAs for NAF1 gene (2 alternative transcripts):

NM_001128931.1 NM_138386.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001128931 NM_138386

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001128931
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001128931
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001128931

Additional cDNA sequence:

AK097352.1 AK126037.1 AK308601.1 BC008207.1 CR611986.1

10 DOTS entries:

DT.406805 DT.300115 DT.70100766 DT.97777090 DT.101961616 DT.100020829 DT.99974448 DT.40121900

DT.92416581 DT.91972497

24/49 AceView cDNA sequences (see all 49 ):

BX103045 CR611986 CF128149 AA321245 AI886391 BX096010 AK097352 CR622366

AK126037 AI923378 AW469161 F09493 BM463276 AI652820 BG288671 AW772169

BX389900 AA609049 BX330880 BF110552 BX508033 NM_138386 AL559696 BC008207

Unigene Cluster for NAF1:

Nuclear assembly factor 1 homolog (S. cerevisiae)

Hs.129095 [show with all ESTs]

Unigene Representative Sequence: AK126037

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for NAF1

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9	^	10
SP1:											-		-										-
SP2:											-		-
SP3:
SP4:

About this scheme

ECgene alternative splicing isoforms for NAF1

1 Ensembl transcript including schematic representation:

ENST00000274054

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

NAF1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for NAF1

¹ / ²

3 probe-sets matching NAF1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
86241_at²	U95-E	1	0.88	1.00	1.00	1.00	--	--	--	--	--
244828_x_at²	U133-B	1	0.73	1.00	--	--	--	--	--	--	--
244828_x_at²	U133Plus2	1	0.73	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AAAGAGCAAT

SOURCE GeneReport for Unigene cluster: Hs.129095

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for NAF1 gene from 5/15 species (see all 15 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	NAF1¹	--	nuclear assembly factor 1 homolog (S. cerevisiae)	89.55(n) 87.84(a)	475486 XM_532709.2 XP_532709.2
chimpanzee (Pan troglodytes)	NAF1¹	--	nuclear assembly factor 1 homolog (S. cerevisiae)	99.33(n) 99.19(a)	461581 XM_517514.2 XP_517514.2
rat (Rattus norvegicus)	Naf1¹	--	nuclear assembly factor 1 homolog (S. cerevisiae)	80.63(n) 81.36(a)	306387 NM_001024772.1 NP_001019943.1
mouse (Mus musculus)	Naf1⁵ 100039062¹	8⁵	nuclear assembly factor 1 homolog (S. cerevisiae)⁵ predicted gene, 100039062¹	81.21(n)¹ 78.75(a)¹	100039062¹ XM_001472023.1¹ XP_001472073.1¹ AA209778⁵ AA555689⁵ (see all 12)
chicken (Gallus gallus)	NAF1¹	--	nuclear assembly factor 1 homolog (S. cerevisiae)	64.14(n) 54.52(a)	769997 XM_001233312.1 XP_001233313.1

About this table Species with no ortholog for NAF1

ENSEMBL Gene Tree for NAF1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/133 NCBI SNPs in NAF1 are shown (see all 133 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 63)

AB	SNP ID	Valid	Chr 4 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs936562^1,2	C,F,H,O	164307404(-)	`GTTTTA/TCTATT`	2	--	ut5¹		12		MN NA EU EA WA	1106
	rs1463555^1,2	C,F,H	164268898(-)	`AAATAT/ATTCCT`	1	--	ng5¹		5		MN EU EA WA	596
	rs12331663^1,2	C,F,H	164307203(+)	`TAGCGG/ACGGCT`	2	S/P	mis¹ ese³		8		NA EU EA WA	632
	rs1061075^1,2	C,F,H	164269366(-)	`TAAGTT/GGATAT`	1	--	ut3¹		5		EA MN EU	1542
	rs4691896^1,2	C,F,H	164304875(+)	`CTCAAC/TTTGTA`	2	I/V	mis¹ ese³		17		NA EU EA WA	1516
	rs7670843^1,2	F,H	164308849(+)	`tttcaA/Gctaaa`	1	--	ng3¹		4		EU EA WA	414
	rs11933273^1,2	C,F	164308260(+)	`GGACAA/CAATTT`	1	--	ng3¹		3		NA	140
--	rs12331717^1,2	C,F	164307509(+)	`TTACGC/TAGCAA`	2	--	ut5¹ ese³		3		NA	142
--	rs4691895^1,2	A,C	164267649(+)	`aaaaaC/Gtttgt`	1	L/V	mis¹		0	--	--	--	--
--	rs1814591^1,2	C	164307776(-)	`gtgggA/Gattac`	1	--	ng3¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for NAF1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 607714

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

9 PubMed articles for NAF1 gene:

hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PubMed id 16601202)^{2, 3, 4} Hoareau-Aveilla C....Henry Y. (2006)
Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. (PubMed id 16618814)^{2, 3, 4} Darzacq X....Meier U.T. (2006)
Dynamic association and localization of human H/ACA RNP proteins. (PubMed id 17135485)^{3, 4} Kittur N....Meier U.T. (2006)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)⁴ Dephoure N.... Gygi S.P. (2008)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)⁴ Olsen J.V....Mann M. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)⁴ Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)³ Ota T....Sugano S. (2004)
Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)³ Beausoleil S.A....Gygi S.P. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 92345	HGNC: 25126	AceView: LOC92345	Ensembl:ENSG00000145414	euGenes: HUgn92345
ECgene: NAF1	H-InvDB: NAF1

(According to HUGE)
About This Section

HUGE: KIAA0113

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for NAF1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for NAF1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for NAF1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for NAF1		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for NAF1		Browse small molecules at Sigma-Aldrich
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	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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NAF1 Gene

protein-coding GIFtS: 44

Aliases &
Descriptions
for NAF1

Summaries
for NAF1

Genomic Location
for NAF1

Proteins
for NAF1

Protein Domains/
Families
for NAF1

Gene Function
for NAF1

Pathways & Interactions
for NAF1

Drugs & Compounds
for NAF1

Transcripts
for NAF1

Expression
for NAF1

Orthologs
for NAF1

Paralogs
for NAF1

SNPs/Variants
for NAF1

Disorders & Mutations
for NAF1

Medical News
for NAF1

Publications
for NAF1

Search for NAF1

Genome Databases showing NAF1

Other Databases showing NAF1

Specialized Databases showing NAF1

Licensable Technologies
for NAF1

Services
for NAF1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

NAF1 Gene

protein-coding GIFtS: 44

Aliases & Descriptionsfor NAF1

Summariesfor NAF1

Genomic Locationfor NAF1

Proteinsfor NAF1

Protein Domains/Familiesfor NAF1

Gene Functionfor NAF1

Pathways & Interactionsfor NAF1

Drugs & Compoundsfor NAF1

Transcriptsfor NAF1

Expression for NAF1

Orthologsfor NAF1

Paralogsfor NAF1

SNPs/Variantsfor NAF1

Disorders & Mutationsfor NAF1

Medical Newsfor NAF1

Publicationsfor NAF1

Search for NAF1

Genome Databases showing NAF1

Other Databases showing NAF1

Specialized Databases showing NAF1

Licensable Technologiesfor NAF1

Servicesfor NAF1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for NAF1

Summaries
for NAF1

Genomic Location
for NAF1

Proteins
for NAF1

Protein Domains/
Families
for NAF1

Gene Function
for NAF1

Pathways & Interactions
for NAF1

Drugs & Compounds
for NAF1

Transcripts
for NAF1

Expression
for NAF1

Orthologs
for NAF1

Paralogs
for NAF1

SNPs/Variants
for NAF1

Disorders & Mutations
for NAF1

Medical News
for NAF1

Publications
for NAF1

Licensable Technologies
for NAF1

Services
for NAF1