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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NUP62CL Gene

protein-coding GIFtS: 49
GCID: GC0XM106366

nucleoporin 62kDa C-terminal like

Explore 2 diseases affiliated with
NUP62CL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Nucleoporin 62kDa C-Terminal Like¹ ²
FLJ20130¹
Nucleoporin-62 C-Terminal-Like Protein²
NUP62L³

External Ids:	HGNC: 25960¹	Entrez Gene: 54830²	Ensembl: ENSG00000198088⁷	UniProtKB: Q9H1M0³

ORGUL members:
	NONCODE:n409321

Export aliases for NUP62CL gene to outside databases

Previous GC identifers: GC0XM106253 GC0XM095994

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

Entrez Gene summary for NUP62CL:

This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore

complexes. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep 2011)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011651.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NUP62CL gene promoter:
TBP STAT5B AML1a E4BP4 Cdc5 YY1 E47 Hand1 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NUP62CL promoter sequence

Search SABiosciences Chromatin IP Primers for NUP62CL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NUP62CL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22.3 Ensembl cytogenetic band: Xq22.3 HGNC cytogenetic band: Xq22.3

NUP62CL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUP62CL gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM106366: view genomic region (about GC identifiers)

Start:	106,366,657 bp from pter	End:	106,449,670 bp from pter
Size:	83,014 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: N62CL_HUMAN, Q9H1M0 (See protein sequence)

Recommended Name: Nucleoporin-62 C-terminal-like protein

Size: 184 amino acids; 20837 Da

Secondary accessions: D3DUX4 Q8WVL6 Q9NXP2

Alternative splicing: 2 isoforms: Q9H1M0-1 Q9H1M0-2

Explore the universe of human proteins at neXtProt for NUP62CL: NX_Q9H1M0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H1M0

NUP62CL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060151.2

ENSEMBL proteins:

ENSP00000361544 ENSP00000433269 ENSP00000408612 ENSP00000405906 ENSP00000361539

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	Uscn Proteins for NUP62CL

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005643	nuclear pore	IEA	--

NUP62CL for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NUP62CL for domains About GeneDecksing

2 InterPro domains/families:

IPR026010 NSP1/NUP62

IPR007758 Nucleoporin_NSP1_C

Graphical View of Domain Structure for InterPro Entry Q9H1M0

ProtoNet protein and cluster: Q9H1M0

UniProtKB/Swiss-Prot: N62CL_HUMAN, Q9H1M0

Similarity: Belongs to the nucleoporin NSP1/NUP62 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0017056	structural constituent of nuclear pore	IEA	--

NUP62CL for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NUP62CL

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5 Interacting proteins for NUP62CL (Q9H1M0^{2, 3} ENSP00000361544⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
OGT	O15294³, ENSP00000362824⁴	I2D: score=4 STRING: ENSP00000362824
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
--	Q9H5T3³^,²	MINT-68324 I2D: score=1
--	Q9H5T3³^,²	MINT-68324 I2D: score=1

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015031	protein transport	IEA	--

NUP62CL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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Browse Tocris compounds for NUP62CL
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for NUP62CL gene:

NM_017681.2

Unigene Cluster for NUP62CL:

Nucleoporin 62kDa C-terminal like

Hs.163629 [show with all ESTs]

Unigene Representative Sequence: NM_017681

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372466(uc004ena.3) ENST00000484614 ENST00000432145 ENST00000421752

ENST00000372461(uc004enb.3)

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Additional cDNA sequence:

AK000137.1 BC016327.1 NR_033676.1

4 DOTS entries:

DT.70101593 DT.99997229 DT.95154426 DT.97810951

20 AceView cDNA sequences:

BC017799 AI393214 CR605049 BC016327 BP368021 AK000137 BM844493 CA312712

CB112762 NM_017681 BX365434 BQ429014 AI763282 BX365433 BX340482 BG495310

H66935 H66934 H60787 AI702317

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for NUP62CL About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9
SP1:
SP2:			-						-

ECgene alternative splicing isoforms for NUP62CL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NUP62CL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAATACTGAA

About this image

NUP62CL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Nkx2-1 GFP+ cells (Efficient derivation...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NUP62CL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NUP62CL

SOURCE GeneReport for Unigene cluster: Hs.163629

SABiosciences Custom PCR Arrays for NUP62CL

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for NUP62CL gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	--	--	4(a)	possible ortholog	AAWZ02041538(658-5491)
zebrafish (Danio rerio)	Actinopterygii	zgc:172056⁶	zgc:172056	12(a)	1 → many	14(10823540-10854840)
fruit fly (Drosophila melanogaster)	Insecta	Nup62⁶	Nucleoporin 62	14(a)	1 → many	2R(12231882-12233333)
worm (Caenorhabditis elegans)	Secernentea	npp-11⁶ npp-10⁶	Nuclear Pore complex Protein family member (npp-11... Nuclear Pore complex Protein family member (npp-10...	3(a) 1(a)	possible ortholog possible ortholog	I(3817999-3821506) III(6013446-6019503)
thale cress (Arabidopsis thaliana)	eudicotyledons	EMB2766⁶	structural constituent of nuclear pore	4(a)	1 → many	2(18564111-18567735)
rice (Oryza sativa)	Liliopsida	--	nsp1-like C-terminal region family protein, expres...	11(a)	1 → many	1(37004703-37010313)

ENSEMBL Gene Tree for NUP62CL (if available)
TreeFam Gene Tree for NUP62CL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NUP62CL gene

NUP62²

1 SIMAP similar gene for NUP62CL using alignment to 3 protein entries: N62CL_HUMAN (see all proteins):

NUP62

NUP62CL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs186847817^1,2		--	106366279(+)	`GAAAAA/GATGTC`	2	--	int¹		0	--	--	--	--
rs188746578^1,2		--	106366736(+)	`GACTTA/CGGTGA`	2	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs200954471^1,2		--	106366817(+)	`CAAAC-/AAAAAA`	2	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs181538509^1,2		--	106367061(+)	`GACAAA/GCATTA`	2	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs1285582^1,2	C,F,A,H,	--	106367102(+)	`TTGAGA/GAGAAG`	2	--	ut3¹ nc-transcript-variantese³ trp³		30		NA EA NS WA CSA	2836
rs55771212^1,2	C	--	106367202(+)	`GTACTA/GATGCC`	2	--	ut3¹ nc-transcript-variant		1		NA	1
rs200340255^1,2		--	106367349(+)	`AAATG-/AAAAAA`	2	--	nc-transcript-variantut3¹		0	--	--	--	--
rs186450791^1,2		--	106367698(+)	`AACACA/GTAAGA`	2	--	int¹		0	--	--	--	--
rs140435134^1,2		--	106367958(+)	`CATTTC/TTGTTC`	2	--	int¹		0	--	--	--	--
rs190817511^1,2		--	106367971(+)	`TTCCAA/GTAATG`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NUP62CL (106366657 - 106449670 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NUP62CL
1 CNV: 8310
Locus Specific Mutation Databases (LSDB): NUP62CL

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NUP62CL for disorders About GeneDecksing

2 diseases for NUP62CL: About MalaCards

myelodysplastic syndrome leukemia

Export disorders for NUP62CL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NUP62CL gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with NUP62CL)

Utopia: connect your pdf to the dynamic
world of online information

The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)¹ Hutchins J.R....Peters J.M. (2010)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)¹ Rual J.F....Vidal M. (2005)

(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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 54830	HGNC: 25960	AceView: FLJ20130	Ensembl:ENSG00000198088	euGenes: HUgn54830
ECgene: NUP62CL	H-InvDB: NUP62CL

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for NUP62CL	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NUP62CL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NUP62CL gene:
Search GeneIP for patents involving NUP62CL

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
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About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 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

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NUP62CL Gene

nucleoporin 62kDa C-terminal like

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NUP62CL Gene

nucleoporin 62kDa C-terminal like

Aliasesfor NUP62CL gene

Summariesfor NUP62CL gene

Genomic Viewsfor NUP62CL gene

Proteinsfor NUP62CL gene

Protein Domains /Familiesfor NUP62CL gene

Functionfor NUP62CL gene

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for NUP62CL gene

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for NUP62CL gene

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for NUP62CL gene

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for NUP62CL gene

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for NUP62CL gene

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