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Protein

Rho GTPase-activating protein 44

Gene

ARHGAP44

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. May act as a GAP for CDC42 and RAC1. Endosomal recycling protein which, in association with SHANK3, is involved in synaptic plasticity. Promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation.1 Publication

GO - Molecular functioni

  • GTPase activator activity Source: GO_Central
  • phospholipid binding Source: FlyBase
  • Rac GTPase binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionGTPase activation
Biological processExocytosis

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Names & Taxonomyi

Protein namesi
Recommended name:
Rho GTPase-activating protein 44
Alternative name(s):
NPC-A-10
Rho-type GTPase-activating protein RICH2
RhoGAP interacting with CIP4 homologs protein 2
Short name:
RICH-2
Gene namesi
Name:ARHGAP44
Synonyms:KIAA0672, RICH2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000006740.16
HGNCiHGNC:29096 ARHGAP44
MIMi617716 gene
neXtProtiNX_Q17R89

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Endosome, Synapse

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000006740

Polymorphism and mutation databases

BioMutaiARHGAP44
DMDMi121948837

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002804801 – 818Rho GTPase-activating protein 44Add BLAST818

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei493PhosphoserineBy similarity1
Modified residuei809PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ17R89
MaxQBiQ17R89
PaxDbiQ17R89
PeptideAtlasiQ17R89
PRIDEiQ17R89
ProteomicsDBi61137

PTM databases

iPTMnetiQ17R89
PhosphoSitePlusiQ17R89
SwissPalmiQ17R89

Expressioni

Tissue specificityi

Highly expressed in brain. Expressed at weak level in other tissues.1 Publication

Gene expression databases

BgeeiENSG00000006740 Expressed in 210 organ(s), highest expression level in Brodmann (1909) area 46
ExpressionAtlasiQ17R89 baseline and differential
GenevisibleiQ17R89 HS

Organism-specific databases

HPAiHPA038814

Interactioni

Subunit structurei

Interacts with BST2 (via cytoplasmic domain). Interacts (probably via PDZ-binding motif) with SHANK3 (via PDZ domain); the interaction takes place in dendritic spines and promotes GRIA1 exocytosis.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TRIP10Q156423EBI-10238335,EBI-739936

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115241, 17 interactors
IntActiQ17R89, 3 interactors
STRINGi9606.ENSP00000368994

Structurei

3D structure databases

ProteinModelPortaliQ17R89
SMRiQ17R89
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini14 – 249BARPROSITE-ProRule annotationAdd BLAST236
Domaini255 – 445Rho-GAPPROSITE-ProRule annotationAdd BLAST191

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni731 – 818Interaction with BST21 PublicationAdd BLAST88

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi815 – 818PDZ-bindingCurated4

Domaini

Rho-GAP domain is required to promote GRIA1 exocytosis from recycling endosomes. Rho-GAP and BAR domains are necessary for the control of long-term potentiation in hippocampal neurons (By similarity).By similarity

Phylogenomic databases

eggNOGiKOG4270 Eukaryota
ENOG410XRR2 LUCA
GeneTreeiENSGT00760000118863
HOGENOMiHOG000179193
HOVERGENiHBG000015
InParanoidiQ17R89
KOiK21067
OMAiPYGLNYP
OrthoDBiEOG091G02YP
PhylomeDBiQ17R89
TreeFamiTF316514

Family and domain databases

Gene3Di1.10.555.10, 1 hit
1.20.1270.60, 1 hit
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR004148 BAR_dom
IPR008936 Rho_GTPase_activation_prot
IPR000198 RhoGAP_dom
PfamiView protein in Pfam
PF03114 BAR, 1 hit
PF00620 RhoGAP, 1 hit
SMARTiView protein in SMART
SM00721 BAR, 1 hit
SM00324 RhoGAP, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
SSF48350 SSF48350, 1 hit
PROSITEiView protein in PROSITE
PS51021 BAR, 1 hit
PS50238 RHOGAP, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q17R89-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKKQFNRMRQ LANQTVGRAE KTEVLSEDLL QVEKRLELVK QVSHSTHKKL
60 70 80 90 100
TACLQGQQGA EADKRSKKLP LTTLAQCLME GSAILGDDTL LGKMLKLCGE
110 120 130 140 150
TEDKLAQELI HFELQVERDV IEPLFLLAEV EIPNIQKQRK HLAKLVLDMD
160 170 180 190 200
SSRTRWQQTS KSSGLSSSLQ PAGAKADALR EEMEEAANRV EICRDQLSAD
210 220 230 240 250
MYSFVAKEID YANYFQTLIE VQAEYHRKSL TLLQAVLPQI KAQQEAWVEK
260 270 280 290 300
PSFGKPLEEH LTISGREIAF PIEACVTMLL ECGMQEEGLF RVAPSASKLK
310 320 330 340 350
KLKAALDCCV VDVQEYSADP HAIAGALKSY LRELPEPLMT FELYDEWIQA
360 370 380 390 400
SNVQEQDKKL QALWNACEKL PKANHNNIRY LIKFLSKLSE YQDVNKMTPS
410 420 430 440 450
NMAIVLGPNL LWPQAEGNIT EMMTTVSLQI VGIIEPIIQH ADWFFPGEIE
460 470 480 490 500
FNITGNYGSP VHVNHNANYS SMPSPDMDPA DRRQPEQARR PLSVATDNMM
510 520 530 540 550
LEFYKKDGLR KIQSMGVRVM DTNWVARRGS SAGRKVSCAP PSMQPPAPPA
560 570 580 590 600
ELAAPLPSPL PEQPLDSPAA PALSPSGLGL QPGPERTSTT KSKELSPGSA
610 620 630 640 650
QKGSPGSSQG TACAGTQPGA QPGAQPGASP SPSQPPADQS PHTLRKVSKK
660 670 680 690 700
LAPIPPKVPF GQPGAMADQS AGQPSPVSLS PTPPSTPSPY GLSYPQGYSL
710 720 730 740 750
ASGQLSPAAA PPLASPSVFT STLSKSRPTP KPRQRPTLPP PQPPTVNLSA
760 770 780 790 800
SSPQSTEAPM LDGMSPGESM STDLVHFDIP SIHIELGSTL RLSPLEHMRR
810
HSVTDKRDSE EESESTAL
Length:818
Mass (Da):89,247
Last modified:July 25, 2006 - v1
Checksum:iFCAC06CEDB522C09
GO
Isoform 2 (identifier: Q17R89-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     509-514: Missing.
     773-774: DL → AV
     775-818: Missing.

Note: Contains a PDZ-binding motif at positions 764-767.
Show »
Length:768
Mass (Da):83,424
Checksum:i04E6F2DEE6094D5D
GO
Isoform 3 (identifier: Q17R89-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     509-514: Missing.

Note: No experimental confirmation available.
Show »
Length:812
Mass (Da):88,521
Checksum:i9E574C0C808B357F
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ERK8E7ERK8_HUMAN
Rho GTPase-activating protein 44
ARHGAP44
774Annotation score:
F5H6L3F5H6L3_HUMAN
Rho GTPase-activating protein 44
ARHGAP44
591Annotation score:
J3KRS3J3KRS3_HUMAN
Rho GTPase-activating protein 44
ARHGAP44
178Annotation score:
A0A087WZS3A0A087WZS3_HUMAN
Rho GTPase-activating protein 44
ARHGAP44
116Annotation score:
J3QQU7J3QQU7_HUMAN
Rho GTPase-activating protein 44
ARHGAP44
191Annotation score:
K7EK86K7EK86_HUMAN
Rho GTPase-activating protein 44
ARHGAP44
182Annotation score:

Sequence cautioni

The sequence AAP73805 differs from that shown. Reason: Frameshift at position 385.Curated
The sequence AAP73805 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA31647 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti346E → G in AAP73805 (Ref. 5) Curated1
Sequence conflicti518R → M in CAB46376 (PubMed:17974005).Curated1
Sequence conflicti674P → L in BAA31647 (PubMed:9734811).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031159463V → M. Corresponds to variant dbSNP:rs3213688Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_053616509 – 514Missing in isoform 2 and isoform 3. 3 Publications6
Alternative sequenceiVSP_053617773 – 774DL → AV in isoform 2. 1 Publication2
Alternative sequenceiVSP_053618775 – 818Missing in isoform 2. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014572 mRNA Translation: BAA31647.2 Different initiation.
AK294538 mRNA Translation: BAG57745.1
AC005274 Genomic DNA No translation available.
AC005277 Genomic DNA No translation available.
BC117412 mRNA Translation: AAI17413.1
BC117416 mRNA Translation: AAI17417.1
BC143853 mRNA Translation: AAI43854.1
AY320403 mRNA Translation: AAP73805.1 Sequence problems.
AL096728 mRNA Translation: CAB46376.1
CCDSiCCDS45616.1 [Q17R89-1]
CCDS82077.1 [Q17R89-3]
PIRiA59433
RefSeqiNP_001308095.1, NM_001321166.1 [Q17R89-3]
NP_001308097.1, NM_001321168.1
NP_055674.4, NM_014859.5 [Q17R89-1]
UniGeneiHs.499758

Genome annotation databases

EnsembliENST00000340825; ENSP00000342566; ENSG00000006740 [Q17R89-3]
ENST00000379672; ENSP00000368994; ENSG00000006740 [Q17R89-1]
GeneIDi9912
KEGGihsa:9912
UCSCiuc002gnr.5 human [Q17R89-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014572 mRNA Translation: BAA31647.2 Different initiation.
AK294538 mRNA Translation: BAG57745.1
AC005274 Genomic DNA No translation available.
AC005277 Genomic DNA No translation available.
BC117412 mRNA Translation: AAI17413.1
BC117416 mRNA Translation: AAI17417.1
BC143853 mRNA Translation: AAI43854.1
AY320403 mRNA Translation: AAP73805.1 Sequence problems.
AL096728 mRNA Translation: CAB46376.1
CCDSiCCDS45616.1 [Q17R89-1]
CCDS82077.1 [Q17R89-3]
PIRiA59433
RefSeqiNP_001308095.1, NM_001321166.1 [Q17R89-3]
NP_001308097.1, NM_001321168.1
NP_055674.4, NM_014859.5 [Q17R89-1]
UniGeneiHs.499758

3D structure databases

ProteinModelPortaliQ17R89
SMRiQ17R89
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115241, 17 interactors
IntActiQ17R89, 3 interactors
STRINGi9606.ENSP00000368994

PTM databases

iPTMnetiQ17R89
PhosphoSitePlusiQ17R89
SwissPalmiQ17R89

Polymorphism and mutation databases

BioMutaiARHGAP44
DMDMi121948837

Proteomic databases

EPDiQ17R89
MaxQBiQ17R89
PaxDbiQ17R89
PeptideAtlasiQ17R89
PRIDEiQ17R89
ProteomicsDBi61137

Protocols and materials databases

DNASUi9912
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340825; ENSP00000342566; ENSG00000006740 [Q17R89-3]
ENST00000379672; ENSP00000368994; ENSG00000006740 [Q17R89-1]
GeneIDi9912
KEGGihsa:9912
UCSCiuc002gnr.5 human [Q17R89-1]

Organism-specific databases

CTDi9912
EuPathDBiHostDB:ENSG00000006740.16
GeneCardsiARHGAP44
HGNCiHGNC:29096 ARHGAP44
HPAiHPA038814
MIMi617716 gene
neXtProtiNX_Q17R89
OpenTargetsiENSG00000006740
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4270 Eukaryota
ENOG410XRR2 LUCA
GeneTreeiENSGT00760000118863
HOGENOMiHOG000179193
HOVERGENiHBG000015
InParanoidiQ17R89
KOiK21067
OMAiPYGLNYP
OrthoDBiEOG091G02YP
PhylomeDBiQ17R89
TreeFamiTF316514

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Miscellaneous databases

ChiTaRSiARHGAP44 human
GenomeRNAii9912
PROiPR:Q17R89
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000006740 Expressed in 210 organ(s), highest expression level in Brodmann (1909) area 46
ExpressionAtlasiQ17R89 baseline and differential
GenevisibleiQ17R89 HS

Family and domain databases

Gene3Di1.10.555.10, 1 hit
1.20.1270.60, 1 hit
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR004148 BAR_dom
IPR008936 Rho_GTPase_activation_prot
IPR000198 RhoGAP_dom
PfamiView protein in Pfam
PF03114 BAR, 1 hit
PF00620 RhoGAP, 1 hit
SMARTiView protein in SMART
SM00721 BAR, 1 hit
SM00324 RhoGAP, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
SSF48350 SSF48350, 1 hit
PROSITEiView protein in PROSITE
PS51021 BAR, 1 hit
PS50238 RHOGAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRHG44_HUMAN
AccessioniPrimary (citable) accession number: Q17R89
Secondary accession number(s): A6NCP5
, A8MQB2, O75160, Q7Z5Z7, Q9Y4Q4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: July 25, 2006
Last modified: November 7, 2018
This is version 108 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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