Human Gene RACGAP1 (ENST00000312377.10_7) from GENCODE V47lift37
  Description: Rac GTPase activating protein 1, transcript variant 12 (from RefSeq NM_001320007.2)
Gencode Transcript: ENST00000312377.10_7
Gencode Gene: ENSG00000161800.13_12
Transcript (Including UTRs)
   Position: hg19 chr12:50,382,945-50,419,277 Size: 36,333 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr12:50,384,051-50,410,498 Size: 26,448 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:50,382,945-50,419,277)mRNA (may differ from genome)Protein (632 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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-  Comments and Description Text from UniProtKB
  ID: RGAP1_HUMAN
DESCRIPTION: RecName: Full=Rac GTPase-activating protein 1; AltName: Full=Male germ cell RacGap; Short=MgcRacGAP; AltName: Full=Protein CYK4 homolg; Short=CYK4; Short=HsCYK-4;
FUNCTION: Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Plays key roles in controlling cell growth and differentiation of hematopoietic cells through mechanisms other than regulating Rac GTPase activity. Also involved in the regulation of growth-related processes in adipocytes and myoblasts. May be involved in regulating spermatogenesis and in the RACGAP1 pathway in neuronal proliferation. Shows strong GAP (GTPase activation) activity towards CDC42 and RAC1 and less towards RHOA. Essential for the early stages of embryogenesis. May play a role in regulating cortical activity through RHOA during cytokinesis. May participate in the regulation of sulfate transport in male germ cells.
SUBUNIT: Heterotetramer of two molecules each of RACGAP1 and KIF23. Found in the centralspindlin complex composed of RACGAP1 and KIF23. Associates with alpha-, beta- and gamma-tubulin and microtubules. Interacts via its Rho-GAP domain with RND2. Associates with AURKB during M phase. Interacts via its Rho-GAP domain and basic region with PRC1. The interaction with PRC1 inhibits its GAP activity towards CDC42 in vitro, which may be required for maintaining normal spindle morphology. Interacts with SLC26A8 via its N-terminus. Interacts with RAB11FIP3. Interacts with ECT2; the interaction is direct, occurs at anaphase and during cytokinesis in a microtubule-dependent manner and is enhanced by phosphorylation by PLK1. Interacts with KIF23; the interaction is direct.
INTERACTION: Q96RN1:SLC26A8; NbExp=2; IntAct=EBI-717233, EBI-1792052;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasmic vesicle, secretory vesicle, acrosome. Cleavage furrow. Midbody. Note=Colocalizes with RND2 in Golgi- derived proacrosomal vesicles and the acrosome (By similarity). During interphase, localized to the nucleus and cytoplasm along with microtubules, in anaphase, is redistributed to the central spindle and, in telophase and cytokinesis, to the midbody. Colocalizes with RHOA at the myosin contractile ring during cytokinesis. Colocalizes with ECT2 to the mitotic spindles during anaphase/metaphase, the cleavage furrow during telophase and at the midbody at the end of cytokinesis. Colocalizes with Cdc42 to spindle microtubules from prometaphase to telophase.
TISSUE SPECIFICITY: Highly expressed in testis, thymus and placenta. Expressed at lower levels in spleen and peripheral blood lymphocytes. In testis, expression is restricted to germ cells with the highest levels of expression found in spermatocytes. Expression is regulated in a cell cycle-dependent manner and peaks during G2/M phase.
INDUCTION: Expression is down-regulated during macrophage differention of HL-60 cells.
DOMAIN: The coiled coil region is indispensible for localization to the midbody during cytokinesis.
PTM: Phosphorylated at multiple sites in the midbody during cytokinesis. Phosphorylation by AURKB on Ser-387 at the midbody is, at least in part, responsible for exerting its latent GAP activity towards RhoA. Phosphorylation on multiple serine residues by PLK1 enhances its association with ECT2 and is critical for cleavage furrow formation.
SIMILARITY: Contains 1 phorbol-ester/DAG-type zinc finger.
SIMILARITY: Contains 1 Rho-GAP domain.
SEQUENCE CAUTION: Sequence=AAH24144.1; Type=Frameshift; Positions=171, 205, 437;

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.92 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 175.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.90101-0.355 Picture PostScript Text
3' UTR -288.401106-0.261 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002219 - Prot_Kinase_C-like_PE/DAG-bd
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom

Pfam Domains:
PF00130 - Phorbol esters/diacylglycerol binding domain (C1 domain)
PF00620 - RhoGAP domain

SCOP Domains:
48350 - GTPase activation domain, GAP
57889 - Cysteine-rich domain
57997 - Tropomyosin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2OVJ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H0H5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0008017 microtubule binding
GO:0008289 lipid binding
GO:0019901 protein kinase binding
GO:0043014 alpha-tubulin binding
GO:0043015 gamma-tubulin binding
GO:0046872 metal ion binding
GO:0048487 beta-tubulin binding

Biological Process:
GO:0000281 mitotic cytokinesis
GO:0000915 actomyosin contractile ring assembly
GO:0006811 ion transport
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0007018 microtubule-based movement
GO:0007049 cell cycle
GO:0007165 signal transduction
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0007405 neuroblast proliferation
GO:0008272 sulfate transport
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0030154 cell differentiation
GO:0032467 positive regulation of cytokinesis
GO:0035556 intracellular signal transduction
GO:0043547 positive regulation of GTPase activity
GO:0045995 regulation of embryonic development
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051256 mitotic spindle midzone assembly
GO:0051301 cell division
GO:0051988 regulation of attachment of spindle microtubules to kinetochore

Cellular Component:
GO:0001669 acrosomal vesicle
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030496 midbody
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0032154 cleavage furrow
GO:0051233 spindle midzone
GO:0070062 extracellular exosome
GO:0072686 mitotic spindle
GO:0090543 Flemming body
GO:0097149 centralspindlin complex


-  Descriptions from all associated GenBank mRNAs
  LP895868 - Sequence 732 from Patent EP3253886.
AL136794 - Homo sapiens mRNA; cDNA DKFZp434C011 (from clone DKFZp434C011).
BC032754 - Homo sapiens Rac GTPase activating protein 1, mRNA (cDNA clone MGC:45150 IMAGE:5583315), complete cds.
LF385078 - JP 2014500723-A/192581: Polycomb-Associated Non-Coding RNAs.
AB040911 - Homo sapiens mRNA for KIAA1478 protein, partial cds.
AK000733 - Homo sapiens cDNA FLJ20726 fis, clone HEP13735.
AK022726 - Homo sapiens cDNA FLJ12664 fis, clone NT2RM4002226, weakly similar to GTPASE ACTIVATING PROTEIN ROTUND.
AB030251 - Homo sapiens MgcRacGAP mRNA for GTPase activating protein, complete cds.
BC024144 - Homo sapiens Rac GTPase activating protein 1, mRNA (cDNA clone IMAGE:3925773), complete cds.
LF337934 - JP 2014500723-A/145437: Polycomb-Associated Non-Coding RNAs.
JD115250 - Sequence 96274 from Patent EP1572962.
LF337935 - JP 2014500723-A/145438: Polycomb-Associated Non-Coding RNAs.
JD313011 - Sequence 294035 from Patent EP1572962.
JD046910 - Sequence 27934 from Patent EP1572962.
JD237881 - Sequence 218905 from Patent EP1572962.
JD147732 - Sequence 128756 from Patent EP1572962.
JD296087 - Sequence 277111 from Patent EP1572962.
JD333570 - Sequence 314594 from Patent EP1572962.
JD437928 - Sequence 418952 from Patent EP1572962.
JD437929 - Sequence 418953 from Patent EP1572962.
AK225901 - Homo sapiens mRNA for Rac GTPase activating protein 1 variant, clone: FCC120D02.
JD088086 - Sequence 69110 from Patent EP1572962.
DQ586078 - Homo sapiens piRNA piR-53190, complete sequence.
JD412491 - Sequence 393515 from Patent EP1572962.
LF337936 - JP 2014500723-A/145439: Polycomb-Associated Non-Coding RNAs.
JD324672 - Sequence 305696 from Patent EP1572962.
JD105159 - Sequence 86183 from Patent EP1572962.
JD325741 - Sequence 306765 from Patent EP1572962.
CR533565 - Homo sapiens full open reading frame cDNA clone RZPDo834E0821D for gene RACGAP1, Rac GTPase activating protein 1; complete cds, incl. stopcodon.
LF337937 - JP 2014500723-A/145440: Polycomb-Associated Non-Coding RNAs.
JD251162 - Sequence 232186 from Patent EP1572962.
JD559626 - Sequence 540650 from Patent EP1572962.
AK315785 - Homo sapiens cDNA, FLJ96901, highly similar to Homo sapiens Rac GTPase activating protein 1 (RACGAP1), mRNA.
KJ893693 - Synthetic construct Homo sapiens clone ccsbBroadEn_03087 RACGAP1 gene, encodes complete protein.
DQ894409 - Synthetic construct Homo sapiens clone IMAGE:100008869; FLH170308.01L; RZPDo839E0197D Rac GTPase activating protein 1 (RACGAP1) gene, encodes complete protein.
EU176264 - Synthetic construct Homo sapiens clone IMAGE:100006376; FLH170314.01X; RZPDo839E10250D Rac GTPase activating protein 1 (RACGAP1) gene, encodes complete protein.
AB384608 - Synthetic construct DNA, clone: pF1KA1478, Homo sapiens RACGAP1 gene for Rac GTPase-activating protein 1, complete cds, without stop codon, in Flexi system.
AM393855 - Synthetic construct Homo sapiens clone IMAGE:100001950 for hypothetical protein (RACGAP1 gene).
LF337938 - JP 2014500723-A/145441: Polycomb-Associated Non-Coding RNAs.
JD023760 - Sequence 4784 from Patent EP1572962.
JD030908 - Sequence 11932 from Patent EP1572962.
LF337940 - JP 2014500723-A/145443: Polycomb-Associated Non-Coding RNAs.
CU689522 - Synthetic construct Homo sapiens gateway clone IMAGE:100019967 5' read RACGAP1 mRNA.
LF337942 - JP 2014500723-A/145445: Polycomb-Associated Non-Coding RNAs.
LF337944 - JP 2014500723-A/145447: Polycomb-Associated Non-Coding RNAs.
LF337948 - JP 2014500723-A/145451: Polycomb-Associated Non-Coding RNAs.
JD042396 - Sequence 23420 from Patent EP1572962.
JD210082 - Sequence 191106 from Patent EP1572962.
JD460556 - Sequence 441580 from Patent EP1572962.
MA620655 - JP 2018138019-A/192581: Polycomb-Associated Non-Coding RNAs.
MA573511 - JP 2018138019-A/145437: Polycomb-Associated Non-Coding RNAs.
MA573512 - JP 2018138019-A/145438: Polycomb-Associated Non-Coding RNAs.
MA573513 - JP 2018138019-A/145439: Polycomb-Associated Non-Coding RNAs.
MA573514 - JP 2018138019-A/145440: Polycomb-Associated Non-Coding RNAs.
MA573515 - JP 2018138019-A/145441: Polycomb-Associated Non-Coding RNAs.
MA573517 - JP 2018138019-A/145443: Polycomb-Associated Non-Coding RNAs.
MA573519 - JP 2018138019-A/145445: Polycomb-Associated Non-Coding RNAs.
MA573521 - JP 2018138019-A/145447: Polycomb-Associated Non-Coding RNAs.
MA573525 - JP 2018138019-A/145451: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H0H5 (Reactome details) participates in the following event(s):

R-HSA-984648 Kinesin-6 and RACGAP1 form the heterotetrameric complex centralspindlin
R-HSA-983266 Kinesins bind microtubules
R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-6811426 Retrograde COPI vesicles bind kinesin and microtubules
R-HSA-6811423 Retrograde vesicle is tethered at the ER by the NRZ complex and t-SNAREs
R-HSA-983189 Kinesins
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-194840 Rho GTPase cycle
R-HSA-109582 Hemostasis
R-HSA-2132295 MHC class II antigen presentation
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-194315 Signaling by Rho GTPases
R-HSA-1280218 Adaptive Immune System
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000312377.1, ENST00000312377.2, ENST00000312377.3, ENST00000312377.4, ENST00000312377.5, ENST00000312377.6, ENST00000312377.7, ENST00000312377.8, ENST00000312377.9, KIAA1478 , MGCRACGAP, NM_001320007, Q6PJ26, Q9H0H5, Q9NWN2, Q9P250, Q9P2W2, RACGAP1 , RGAP1_HUMAN, uc317pfc.1, uc317pfc.2
UCSC ID: ENST00000312377.10_7
RefSeq Accession: NM_001319999.2
Protein: Q9H0H5 (aka RGAP1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.