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RANGAP1 Gene

protein-coding GIFtS: 65
GCID: GC22M041641

Ran GTPase Activating Protein 1

(Previous name: segregation distorter homolog (Drosophila))
(Previous symbol: SD)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Ran GTPase Activating Protein 1¹ ²		Ran GTPase-Activating Protein 1²
SD¹ ² ³		Segregation Distorter Homolog²
Segregation Distorter Homolog (Drosophila)¹		Segregation Distortion²
Fug1²		KIAA1835³
RANGAP²		RanGAP1³

External Ids:	HGNC: 9854¹	Entrez Gene: 5905²	Ensembl: ENSG00000100401⁷	OMIM: 602362⁵	UniProtKB: P46060³

Export aliases for RANGAP1 gene to outside databases

Previous GC identifers: GC22M038256 GC22M039884 GC22M039966 GC22M024606

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RANGAP1 Gene:

This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of

nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine

triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. (provided

by RefSeq, Jul 2013)

GeneCards Summary for RANGAP1 Gene:

RANGAP1 (Ran GTPase activating protein 1) is a protein-coding gene. Diseases associated with RANGAP1 include brain cancer, and herpes simplex. GO annotations related to this gene include Ran GTPase activator activity.

UniProtKB/Swiss-Prot: RAGP1_HUMAN, P46060

Function: GTPase activator for the nuclear Ras-related regulatory protein Ran, converting it to the putatively

inactive GDP-bound state

Gene Wiki entry for RANGAP1 Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000022.11 NT_011520.13 NC_018933.2

Regulatory elements:

Regulatory transcription factor binding sites in the RANGAP1 gene promoter:
AhR CREB p53 AP-1 deltaCREB ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RANGAP1 promoter sequence

Search Chromatin IP Primers for RANGAP1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RANGAP1

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

Entrez Gene cytogenetic band: 22q13 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q13

RANGAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RANGAP1 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M041641: view genomic region (about GC identifiers)

Start:	41,641,615 bp from pter	End:	41,682,255 bp from pter
Size:	40,641 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RAGP1_HUMAN, P46060 (See protein sequence)

Recommended Name: Ran GTPase-activating protein 1

Size: 587 amino acids; 63542 Da

Subunit: Homodimer. Forms a tight complex in association with RANBP2/NUP358 and UBE2I/UBC9, the

ubiquitin-conjugating enzyme E2. Interacts with UBE2I; the interaction conjugates SUMO1 to RANGAP1, and

subsequently stabilizes interactions of sumoylated RANGAP1 with RANBP2/NUP358. The SUMO1/RANGAP1/UBC9/NUP358

complex associates with nuclear pore complexes. Interacts with TRAF6

Sequence caution: Sequence=BAB47464.1; Type=Erroneous initiation;

Selected PDB 3D structures from and Proteopedia for RANGAP1 (see all 12):

1Z5S (3D)

2GRN (3D)

2GRO (3D)

2GRP (3D)

2GRQ (3D)

2GRR (3D)

Secondary accessions: Q96JJ2

Explore the universe of human proteins at neXtProt for RANGAP1: NX_P46060

Explore proteomics data for RANGAP1 at MOPED

Post-translational modifications:

Phosphorylated occurs before nuclear envelope breakdown and continues throughout mitosis. Phosphorylated by the

M-phase kinase cyclin B/Cdk1, in vitro. Differential timimg of dephosphorylation occurs during phases of mitosis.

The phosphorylated form remains associated with RANBP2/NUP358 and the SUMO E2-conjugating enzyme, UBC9, on

nuclear pore complex (NPC) diassembly and during mitosis¹

Sumoylated with SUMO1. Sumoylation is necessary for targeting to the nuclear envelope (NE), and for association

with mitotic spindles and kinetochores during mitosis. Also required for interaction with RANBP2 and is mediated

by UBC9¹

Ubiquitination² at Lys296, Lys452, Lys524

Modification sites at PhosphoSitePlus

See RANGAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001265580.1 NP_002874.1

ENSEMBL proteins:

ENSP00000385866 ENSP00000348577 ENSP00000401470 ENSP00000393407 ENSP00000394787

ENSP00000408743 ENSP00000404842 ENSP00000385354

Reactome Protein details: P46060

RANGAP1 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:

IPR027038 RanGap

IPR009109 Ran_GTPase_activating_1_C

Graphical View of Domain Structure for InterPro Entry P46060

ProtoNet protein and cluster: P46060

1 Blocks protein domain: IPB001611 Leucine-rich repeat signature

UniProtKB/Swiss-Prot: RAGP1_HUMAN, P46060

Similarity: Belongs to the RNA1 family

Similarity: Contains 6 LRR (leucine-rich) repeats

RANGAP1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: RAGP1_HUMAN, P46060

Function: GTPase activator for the nuclear Ras-related regulatory protein Ran, converting it to the putatively

inactive GDP-bound state

Genatlas biochemistry entry for RANGAP1:

Ran GTPase activating protein 1,homolog of yeast Rna1p,component of the nuclear pore complex,highly concentrated

at its cytoplasmic periphery,conjugating with UBL1 in a ATP dependent fashion,then associating with RANBP2.

Involved in mRNA processing and transport

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005098	Ran GTPase activator activity	IEA	--
GO:0005515	protein binding	IPI	17000644

RANGAP1 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Rangap1):

embryogenesis

growth/size/body

mortality/aging

RANGAP1 for phenotypes About GeneDecksing

Animal Models:

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miRNA Products:		miRTarBase miRNAs that target RANGAP1: hsa-mir-31-5p (MIRT049887), hsa-mir-92a-3p (MIRT049661), hsa-mir-1301-3p (MIRT036035), hsa-mir-331-3p (MIRT043425), hsa-mir-16-5p (MIRT031630)

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Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for RANGAP1
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RANGAP1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

RAGP1_HUMAN, P46060: Cytoplasm. Nucleus membrane; Peripheral membrane protein; Cytoplasmic side. Chromosome,

centromere, kinetochore (By similarity). Cytoplasm, cytoskeleton, spindle pole (By similarity). Note=Cytoplasmic

during interphase. Targeted to the nuclear rim after sumoylation. During mitosis, associates with mitotic

spindles. Association with kinetochores appears soon after nuclear envelope breakdown and persists until late

anaphase. Mitotic location also requires sumoylation

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	4
cytoskeleton	2

About this image

Gene Ontology (GO): Selected cellular component terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000776	colocalizes with kinetochore	IDA	17363900
GO:0000777	condensed chromosome kinetochore	IEA	--
GO:0000922	spindle pole	IEA	--
GO:0005643	nuclear pore	TAS	8978815
GO:0005737	cytoplasm	TAS	8978815

RANGAP1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for RANGAP1 About (see all 13)

See pathways by source

SuperPath

Contained pathways About

HIV Life Cycle

	HIV Life Cycle	0.91			HIV Infection	0.62
	Late Phase of HIV Life Cycle	0.91			Host Interactions of HIV factors	0.60

Mitotic Metaphase and Anaphase

	Mitotic Anaphase	0.94			Mitotic Metaphase and Anaphase	0.93
	Separation of Sister Chromatids	0.94

Cell Cycle, Mitotic

	Cell Cycle, Mitotic	0.90			M Phase	0.62
	Cell Cycle	0.90

Mitotic Prometaphase

Mitotic Prometaphase

0.92

Resolution of Sister Chromatid Cohesion

0.92

Regulation of Glucokinase by Glucokinase Regulatory Protein

Rev-mediated nuclear export of HIV RNA

0.91

Interactions of Rev with host cellular proteins

0.91

Pathways by source See SuperPaths
Show all pathways

2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RANGAP1

	Ran Pathway
	SUMO Pathway

1 GeneGo (Thomson Reuters) Pathway for RANGAP1

Proteolysis Putative SUMO-1 pathway

3 BioSystems Pathways for RANGAP1

	Signaling events mediated by HDAC Class I
	Sumoylation by RanBP2 regulates transcriptional repression
	Signaling events mediated by HDAC Class II

4 Reactome Pathways for RANGAP1

	Rev-mediated nuclear export of HIV RNA
	Resolution of Sister Chromatid Cohesion
	Mitotic Prometaphase
	Separation of Sister Chromatids

1 Kegg Pathway (Kegg details for RANGAP1):

RNA transport

RANGAP1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including RANGAP1:

Multiple Sclerosis in human mouse rat

Interactions:

GeneGlobe Interaction Network for RANGAP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for RANGAP1 (P46060^{1, 2, 3} ENSP00000348577⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 1037)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBE2I	P63279¹^,²^,³, ENSP00000324897⁴	EBI-396091,EBI-80168 MINT-3380689 I2D: score=6 STRING: ENSP00000324897
DDX19A	Q9NUU7²^,³, ENSP00000306117⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000306117
GCN1L1	Q92616²^,³, ENSP00000300648⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000300648
HIRA	P54198²^,³, ENSP00000263208⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000263208
NUP155	O75694²^,³, ENSP00000231498⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000231498

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Gene Ontology (GO): 4 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000278	mitotic cell cycle	TAS	--
GO:0007165	signal transduction	IEA	--
GO:0032853	positive regulation of Ran GTPase activity	TAS	7878053
GO:0046826	negative regulation of protein export from nucleus	IDA	16449645

RANGAP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for RANGAP1 (RAGP1)

2 Novoseek inferred chemical compound relationships for RANGAP1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gtp	63.9	12	10473610 (2), 7744835 (1), 10322113 (1), 8146159 (1) (see all 8)
lysine	24.3	1	9442102 (1)

RANGAP1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for RANGAP1 gene (2 alternative transcripts):

NM_001278651.1 NM_002883.3

Unigene Cluster for RANGAP1:

Ran GTPase activating protein 1

Hs.183800 [show with all ESTs]

Unigene Representative Sequence: BC041396

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

ENST00000405486(uc003azt.3) ENST00000356244(uc011aoz.2 uc003azu.3)

ENST00000455915(uc003azs.3) ENST00000446258 ENST00000452543 ENST00000418067

ENST00000422838 ENST00000407260

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		3 qRT-PCR Assays for microRNAs that regulate RANGAP1:
		hsa-miR-3611 hsa-miR-3153 hsa-miR-646
		SwitchGear 3'UTR luciferase reporter plasmid: RANGAP1 3' UTR sequence

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Additional mRNA sequence:

AK302222.1 AK303524.1 BC004990.1 BC014044.2 BC019676.1 BC041396.2 BC048990.1 CR456557.1

X82260.1

Selected DOTS entries (see all 36):

DT.100647773 DT.449648 DT.95154111 DT.100852871 DT.100647772 DT.100645443 DT.92451019 DT.100647777

DT.100709463 DT.100711353 DT.100768599 DT.92451021 DT.95272271 DT.100647775 DT.100839566 DT.100859349

DT.75170405 DT.100038346 DT.100637492 DT.100854577 DT.100864211 DT.92451015 DT.95272269 DT.100800164

Selected AceView cDNA sequences (see all 323):

BQ710884 BC014044 BC048990 BM694126 BP430437 BU732305 CR599804 CR595421

CR456557 NM_002883 BQ053784 BM553423 BU681186 BC012882 BM542955 BQ000147

AA974279 BM550690 BM553409 AL134893 AA351030 BQ424384 BF345488 BQ684706

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for RANGAP1 (see all 12) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	^	3a	·	3b	^	4a	·	4b	^	5	^	6	^	7a	·	7b	·	7c	·	7d	^	8a	·	8b	·	8c	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^
SP1:													-		-		-		-		-		-		-
SP2:
SP3:																																																			-
SP4:													-		-				-		-		-		-
SP5:													-		-				-				-		-

ExUns:	15a	·	15b	^	16a	·	16b	^	17a	·	17b
SP1:
SP2:	-						-
SP3:	-						-
SP4:
SP5:

ECgene alternative splicing isoforms for RANGAP1

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RANGAP1 expression in normal human tissues (normalized intensities) RANGAP1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTTTCCCCTT

About this image

RANGAP1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Pancreas (Endocrine System)
Islets of Langerhans

RANGAP1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

RANGAP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.183800

UniProtKB/Swiss-Prot: RAGP1_HUMAN, P46060

Tissue specificity: Highly expressed in brain, thymus and testis

Pathway & Disease-focused RT² Profiler PCR Array including RANGAP1:

Multiple Sclerosis in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for RANGAP1 OriGene qSTAR qPCR primer pairs in human, mouse for RANGAP1
		Pre-validated RT² qPCR Primer Assay in human, mouse / rat RANGAP1
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RANGAP1

(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)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for RANGAP1 gene from Selected species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rangap1^{1 , 5}	RAN GTPase activating protein 1^{1, 5}	86.09(n)¹ 89.1(a)¹		15 (38.21 cM)⁵ 19387¹ NM_011241.4¹ NP_035371.4¹ 81704248⁵
chicken (Gallus gallus)	Aves	RANGAP1¹	Ran GTPase activating protein 1	75.46(n) 82.07(a)		417997 NM_001006237.1 NP_001006237.1
lizard (Anolis carolinensis)	Reptilia	RANGAP1⁶	Ran GTPase activating protein 1	79(a)	1 ↔ 1	5(26276662-26299909)
African clawed frog (Xenopus laevis)	Amphibia	rangap1-prov²	RAN GTPase activating protein 1	75.33(n)		BC043982.1
zebrafish (Danio rerio)	Actinopterygii	Dr.26558²	Danio rerio cDNA clone MGC66165 IMAGE5600717, complete more	73.92(n)		BC054654.1
fruit fly (Drosophila melanogaster)	Insecta	RanGap⁶	Ran GTPase activating protein	7(a)	1 ↔ 1	2L(19442041-19447322)
worm (Caenorhabditis elegans)	Secernentea	ran-2³	RNA production/processing	51(a)		--
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RNA1(YMR235C)⁴ RNA1¹	GTPase activating protein (GAP) for Gsp1p, involved more⁴ RNA1¹	44.23(n)¹ 32.36(a)¹		13(742735-741512)⁴ 855275^{1, 4} NP_013962.1^{1, 4}

ENSEMBL Gene Tree for RANGAP1 (if available)
TreeFam Gene Tree for RANGAP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6002296^1,2	C	--	41641170(+)	`ACCTAC/TGTGGC`	1	--	ds500¹		0	--	--	--	--
rs9637339^1,2	H	--	41641282(+)	`GGGTAG/AGAGGT`	1	--	ds500¹		4		NS EA	420
rs117983667^1,2	C,F	--	41641311(+)	`TGTCCT/GCACAT`	1	--	ds500¹		1		NA	120
rs6002298^1,2	C,F,H	--	41641570(+)	`TACAAC/TGGCCC`	1	--	ds500¹		25		NS EA NA WA CSA	2552
rs183174209^1,2		--	41641649(+)	`GCCCCC/TGGGCA`	1	--	ut3¹		0	--	--	--	--
rs146895453^1,2		--	41641672(+)	`ACACAC/GAGCAC`	1	--	ut3¹		0	--	--	--	--
rs187859921^1,2		--	41641703(+)	`GTCACA/GGGTGC`	1	--	ut3¹		0	--	--	--	--
rs11913689^1,2	H	--	41641751(+)	`TACCGC/GTCCCC`	1	--	ut3¹ ese³		0	--	--	--	--
rs57712473^1,2	C	--	41641784(+)	`GCAGCA/GTCCAG`	1	--	ut3¹		0	--	--	--	--
rs73885753^1,2	C,F	--	41641924(+)	`GGTCCG/AGGGCC`	1	--	ut3¹		3		WA	122

HapMap Linkage Disequilibrium report for RANGAP1 (41641615 - 41682255 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for RANGAP1 (see all 12): About this table

Variant ID	Type	Subtype	PubMed ID
nsv3638	CNV	Insertion	18451855
nsv915118	CNV	Loss	21882294
nsv915117	CNV	Loss	21882294
nsv834207	CNV	Loss	17160897
nsv915119	CNV	Loss	21882294
nsv915120	CNV	Loss	21882294
nsv915116	CNV	Loss	21882294
nsv524585	CNV	Loss	19592680
nsv516925	CNV	Loss	19592680
nsv3637	CNV	Loss	18451855

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602362 OMIM disorders: --

12 diseases for RANGAP1: About MalaCards

brain cancer herpes simplex multiple sclerosis tonsillitis

hiv-1 multiple myeloma myeloma thyroiditis

malaria cerebritis endotheliitis prostatitis

RANGAP1 for disorders About GeneDecksing

Export disorders for RANGAP1 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)
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PubMed articles for RANGAP1 gene, integrated from 10 sources (see all 137):
(articles sorted by number of sources associating them with RANGAP1)

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

Human RanGTPase-activating protein RanGAP1 is a homologue of yeast Rna1p involved in mRNA processing and transport. (PubMed id 7878053)^{1, 2, 3, 9} Bischoff F.R.... Ponstingl H. (Proc. Natl. Acad. Sci. U.S.A. 1995)
Ubiquitous expression and testis-specific alternative polyadenylation of mRNA for the human Ran GTPase activator RanGAP1. (PubMed id 8973340)^{1, 2, 9} Krebber H. and Ponstingl H. (Gene 1996)
RanGAP1*SUMO1 is phosphorylated at the onset of mitosis and remains associated with RanBP2 upon NPC disassembly. (PubMed id 15037602)^{1, 2, 9} Swaminathan S....Melchior F. (J. Cell Biol. 2004)
Insights into E3 ligase activity revealed by a SUMO-RanGAP1-Ubc9- Nup358 complex. (PubMed id 15931224)^{1, 2, 9} Reverter D. and Lima C.D. (Nature 2005)
Nuclear tumor necrosis factor receptor-associated factor 6 in lymphoid cells negatively regulates c-Myb-mediated transactivation through small ubiquitin-related modifier-1 modification. (PubMed id 18093978)^{1, 2} Pham L.V.... Ford R.J. (J. Biol. Chem. 2008)
SUMO protease SENP1 induces isomerization of the scissile peptide bond. (PubMed id 17099698)^{1, 2} Shen L.... Hay R.T. (Nat. Struct. Mol. Biol. 2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (Cell 2006)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (Genome Biol. 2004)
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. (Genome Res. 2004)
SUMO-1 targets RanGAP1 to kinetochores and mitotic spindles. (PubMed id 11854305)^{1, 2} Joseph J.... Dasso M. (J. Cell Biol. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 5905	HGNC: 9854	AceView: RANGAP1	Ensembl:ENSG00000100401	euGenes: HUgn5905
ECgene: RANGAP1	Kegg: 5905	H-InvDB: RANGAP1

(According to HUGE)
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HUGE: KIAA1835

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RANGAP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RANGAP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RANGAP1 gene:
Search GeneIP for patents involving RANGAP1

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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RANGAP1 Gene

Ran GTPase Activating Protein 1

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RANGAP1 Gene

Ran GTPase Activating Protein 1

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