P84080

PR
Gene name
ARF1
Protein name
ADP-ribosylation factor 1
Names
EC 3.6.5.2
Species
Homo sapiens (Human)
KEGG Pathway
bta:338058
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

3-16 (N-terminal helix) SS

Target domain

16-138 (Small GTP-binding protein domain)

Relief mechanism

Ligand binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

5 structures for P84080

Entry ID Method Resolution Chain Position Source
1R8Q X-ray 186 A A/B 1-181 PDB
1R8S X-ray 146 A A 18-181 PDB
1S9D X-ray 180 A A 18-181 PDB
4C0A X-ray 330 A C/D/G/H 18-181 PDB
AF-P84080-F1 Predicted AlphaFoldDB

45 variants for P84080

Variant ID(s) Position Change Description Diseaes Association Provenance
rs480927530 4 I>L No EVA
rs446420899 7 N>I No EVA
rs457783096 8 L>H No EVA
rs477818380 8 L>I No EVA
rs481963798 11 G>V No EVA
rs441829434 12 L>I No EVA
rs473297564 13 F>V No EVA
rs440317988 16 K>T No EVA
rs446680932 24 G>A No EVA
rs446680932 24 G>V No EVA
rs438051589 26 D>G No EVA
rs469483218 28 A>G No EVA
rs455898426 29 G>E No EVA
rs467260574 39 L>Q No EVA
rs435797299 39 L>V No EVA
rs477755453 45 T>P No EVA
rs464146283 50 G>S No EVA
rs475915114 85 T>P No EVA
rs445831773 91 V>A No EVA
rs477090327 95 N>I No EVA
rs463499184 96 D>V No EVA
rs444392081 97 R>S No EVA
rs475809417 98 E>A No EVA
rs462211770 102 E>V No EVA
rs442083833 103 A>G No EVA
rs453513920 104 R>L No EVA
rs453513920 104 R>P No EVA
rs473573936 104 R>S No EVA
rs433373002 105 E>A No EVA
rs433373002 105 E>G No EVA
rs471265443 106 E>A No EVA
rs457634336 106 E>D No EVA
rs468139606 110 M>R No EVA
rs434461566 111 L>V No EVA
rs445770040 113 E>* No EVA
rs445770040 113 E>Q No EVA
rs477028991 114 D>G No EVA
rs449911925 115 E>D No EVA
rs463436083 115 E>G No EVA
rs481401825 118 D>G No EVA
rs462117954 119 A>P No EVA
rs473460744 127 K>N No EVA
rs459860847 128 Q>* No EVA
rs440716884 153 W>G No EVA
rs472011427 173 L>P No EVA

1 associated diseases with P84080

[MIM: 619475]: Developmental delay, impaired speech, and behavioral abnormalities (DDISBA)

An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss. {ECO:0000269|PubMed:34211179}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss. {ECO:0000269|PubMed:34211179}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for P84080

Type Name Position InterPro Accession
domain Rho GTPase-activating protein domain 226 - 412 IPR000198
domain CRAL-TRIO lipid binding domain 12 - 199 IPR001251

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton
  • Cytoplasm, myofibril, sarcomere, M line
  • Cytoplasm, cytosol
  • Cell membrane
  • Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

2 GO annotations of molecular function

Name Definition
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction

6 GO annotations of biological process

Name Definition
dendritic spine organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a dendritic spine. A dendritic spine is a specialized protrusion from a neuronal dendrite and is involved in synaptic transmission.
intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
long-term synaptic depression A process that modulates synaptic plasticity such that synapses are changed resulting in the decrease in the rate, or frequency of synaptic transmission at the synapse.
regulation of Arp2/3 complex-mediated actin nucleation Any process that modulates the frequency, rate or extent of actin nucleation mediated by the Arp2/3 complex and interacting proteins.
regulation of receptor internalization Any process that modulates the frequency, rate or extent of receptor internalization.
vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

47 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P84081 ARF2 ADP-ribosylation factor 2 Bos taurus (Bovine) SS
Q0VC18 ARL4D ADP-ribosylation factor-like protein 4D Bos taurus (Bovine) PR
Q2KJ96 ARL5A ADP-ribosylation factor-like protein 5A Bos taurus (Bovine) SS
Q3SZF2 ARF4 ADP-ribosylation factor 4 Bos taurus (Bovine) SS
Q5E9I6 ARF3 ADP-ribosylation factor 3 Bos taurus (Bovine) SS
P49702 ARF5 ADP-ribosylation factor 5 Gallus gallus (Chicken) SS
P40945 Arf4 ADP ribosylation factor 4 Drosophila melanogaster (Fruit fly) SS
P61209 Arf1 ADP-ribosylation factor 1 Drosophila melanogaster (Fruit fly) SS
P84085 ARF5 ADP-ribosylation factor 5 Homo sapiens (Human) EV
P61204 ARF3 ADP-ribosylation factor 3 Homo sapiens (Human) EV
A6NH57 ARL5C Putative ADP-ribosylation factor-like protein 5C Homo sapiens (Human) SS
Q969Q4 ARL11 ADP-ribosylation factor-like protein 11 Homo sapiens (Human) PR
Q9Y689 ARL5A ADP-ribosylation factor-like protein 5A Homo sapiens (Human) SS
P18085 ARF4 ADP-ribosylation factor 4 Homo sapiens (Human) EV
P49703 ARL4D ADP-ribosylation factor-like protein 4D Homo sapiens (Human) PR
Q8N4G2 ARL14 ADP-ribosylation factor-like protein 14 Homo sapiens (Human) SS
Q8IVW1 ARL17A ADP-ribosylation factor-like protein 17 Homo sapiens (Human) SS
Q9H0F7 ARL6 ADP-ribosylation factor-like protein 6 Homo sapiens (Human) SS
Q96KC2 ARL5B ADP-ribosylation factor-like protein 5B Homo sapiens (Human) SS
P84077 ARF1 ADP-ribosylation factor 1 Homo sapiens (Human) EV
P49076 ARF1 ADP-ribosylation factor Zea mays (Maize) SS
P84084 Arf5 ADP-ribosylation factor 5 Mus musculus (Mouse) SS
P61750 Arf4 ADP-ribosylation factor 4 Mus musculus (Mouse) SS
Q99PE9 Arl4d ADP-ribosylation factor-like protein 4D Mus musculus (Mouse) PR
Q6P068 Arl5c ADP-ribosylation factor-like protein 5C Mus musculus (Mouse) SS
Q80ZU0 Arl5a ADP-ribosylation factor-like protein 5A Mus musculus (Mouse) SS
P61205 Arf3 ADP-ribosylation factor 3 Mus musculus (Mouse) SS
Q9D4P0 Arl5b ADP-ribosylation factor-like protein 5B Mus musculus (Mouse) SS
Q8BSL7 Arf2 ADP-ribosylation factor 2 Mus musculus (Mouse) SS
P84078 Arf1 ADP-ribosylation factor 1 Mus musculus (Mouse) SS
P51824 ADP-ribosylation factor 1 Solanum tuberosum (Potato) SS
P84082 Arf2 ADP-ribosylation factor 2 Rattus norvegicus (Rat) SS
P51646 Arl5a ADP-ribosylation factor-like protein 5A Rattus norvegicus (Rat) SS
P84083 Arf5 ADP-ribosylation factor 5 Rattus norvegicus (Rat) SS
P36407 Trim23 E3 ubiquitin-protein ligase TRIM23 Rattus norvegicus (Rat) SS
P61751 Arf4 ADP-ribosylation factor 4 Rattus norvegicus (Rat) SS
P61206 Arf3 ADP-ribosylation factor 3 Rattus norvegicus (Rat) SS
P84079 Arf1 ADP-ribosylation factor 1 Rattus norvegicus (Rat) SS
P51823 ARF ADP-ribosylation factor 2 Oryza sativa subsp. japonica (Rice) SS
Q06396 Os01g0813400 ADP-ribosylation factor 1 Oryza sativa subsp. japonica (Rice) SS
P34212 arl-5 ADP-ribosylation factor-like protein 5 Caenorhabditis elegans SS
Q10943 arf-1.2 ADP-ribosylation factor 1-like 2 Caenorhabditis elegans SS
P40940 ARF3 ADP-ribosylation factor 3 Arabidopsis thaliana (Mouse-ear cress) SS
P0DH91 ARF2-B ADP-ribosylation factor 2-B Arabidopsis thaliana (Mouse-ear cress) SS
P36397 ARF1 ADP-ribosylation factor 1 Arabidopsis thaliana (Mouse-ear cress) SS
Q9LQC8 ARF2-A ADP-ribosylation factor 2-A Arabidopsis thaliana (Mouse-ear cress) SS
Q5M9P8 arl6 ADP-ribosylation factor-like protein 6 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MTTTVATDYD NIEIQQQYSD VNNRWDVDDW DNENSSARLF ERSRIKALAD EREAVQKKTF
70 80 90 100 110 120
TKWVNSHLAR VSCRITDLYT DLRDGRMLIK LLEVLSGERL PKPTKGRMRI HCLENVDKAL
130 140 150 160 170 180
QFLKEQRVHL ENMGSHDIVD GNHRLTLGLI WTIILRFQIQ DISVETEDNK EKKSAKDALL
190 200 210 220 230 240
LWCQMKTAGY PNVNIHNFTT SWRDGMAFNA LIHKHRPDLI DFDKLKKSNA HYNLQNAFNL
250 260 270 280 290 300
AEQHLGLTKL LDPEDISVDH PDEKSIITYV VTYYHYFSKM KALAVEGKRI GKVLDNAIET
310 320 330 340 350 360
EKMIEKYESL ASDLLEWIEQ TIIILNNRKF ANSLVGVQQQ LQAFNTYRTV EKPPKFTEKG
370 380 390 400 410 420
NLEVLLFTIQ SKMRANNQKV YMPREGKLIS DINKAWERLE KAEHERELAL RNELIRQEKL
430 440 450 460 470 480
EQLARRFDRK AAMRETWLSE NQRLVSQDNF GFDLPAVEAA TKKHEAIETD IAAYEERVQA
490 500 510 520 530 540
VVAVARELEA ENYHDIKRIT ARKDNVIRLW EYLLELLRAR RQRLEMNLGL QKIFQEMLYI
550 560 570 580 590 600
MDWMDEMKVL VLSQDYGKHL LGVEDLLQKH TLVEADIGIQ AERVRGVNAS AQKFATDGEG
610 620 630 640 650 660
YKPCDPQVIR DRVAHMEFCY QELCQLAAER RARLEESRRL WKFFWEMAEE EGWIREKEKI
670 680 690 700 710 720
LSSDDYGKDL TSVMRLLSKH RAFEDEMSGR SGHFEQAIKE GEDMIAEEHF GSEKIRERII
730 740 750 760 770 780
YIREQWANLE QLSAIRKKRL EEASLLHQFQ ADADDIDAWM LDILKIVSSS DVGHDEYSTQ
790 800 810 820 830 840
SLVKKHKDVA EEIANYRPTL DTLHEQASAL PQEHAESPDV RGRLSGIEER YKEVAELTRL
850 860 870 880 890 900
RKQALQDTLA LYKMFSEADA CELWIDEKEQ WLNNMQIPEK LEDLEVIQHR FESLEPEMNN
910 920 930 940 950 960
QASRVAVVNQ IARQLMHSGH PSEKEIKAQQ DKLNTRWSQF RELVDRKKDA LLSALSIQNY
970 980 990 1000 1010 1020
HLECNETKSW IREKTKVIES TQDLGNDLAG VMALQRKLTG MERDLVAIEA KLSDLQKEAE
1030 1040 1050 1060 1070 1080
KLESEHPDQA QAILSRLAEI SDVWEEMKTT LKNREASLGE ASKLQQFLRD LDDFQSWLSR
1090 1100 1110 1120 1130 1140
TQTAIASEDM PNTLTEAEKL LTQHENIKNE IDNYEEDYQK MRDMGEMVTQ GQTDAQYMFL
1150 1160 1170 1180 1190 1200
RQRLQALDTG WNELHKMWEN RQNLLSQSHA YQQFLRDTKQ AEAFLNNQEY VLAHTEMPTT
1210 1220 1230 1240 1250 1260
LEGAEAAIKK QEDFMTTMDA NEEKINAVVE TGRRLVSDGN INSDRIQEKV DSIDDRHRKN
1270 1280 1290 1300 1310 1320
RETASELLMR LKDNRDLQKF LQDCQELSLW INEKMLTAQD MSYDEARNLH SKWLKHQAFM
1330 1340 1350 1360 1370 1380
AELASNKEWL DKIEKEGMQL ISEKPETEAV VKEKLTGLHK MWEVLESTTQ TKAQRLFDAN
1390 1400 1410 1420 1430 1440
KAELFTQSCA DLDKWLHGLE SQIQSDDYGK DLTSVNILLK KQQMLENQME VRKKEIEELQ
1450 1460 1470 1480 1490 1500
SQAQALSQEG KSTDEVDSKR LTVQTKFMEL LEPLNERKHN LLASKEIHQF NRDVEDEILW
1510 1520 1530 1540 1550 1560
VGERMPLATS TDHGHNLQTV QLLIKKNQTL QKEIQGHQPR IDDIFERSQN IVTDSSSLSA
1570 1580 1590 1600 1610 1620
EAIRQRLADL KQLWGLLIEE TEKRHRRLEE AHRAQQYYFD AAEAEAWMSE QELYMMSEEK
1630 1640 1650 1660 1670 1680
AKDEQSAVSM LKKHQILEQA VEDYAETVHQ LSKTSRALVA DSHPESERIS MRQSKVDKLY
1690 1700 1710 1720 1730 1740
AGLKDLAEER RGKLDERHRL FQLNREVDDL EQWIAEREVV AGSHELGQDY EHVTMLQERF
1750 1760 1770 1780 1790 1800
REFARDTGNI GQERVDTVNH LADELINSGH SDAATIAEWK DGLNEAWADL LELIDTRTQI
1810 1820 1830 1840 1850 1860
LAASYELHKF YHDAKEIFGR IQDKHKKLPE ELGRDQNTVE TLQRMHTTFE HDIQALGTQV
1870 1880 1890 1900 1910 1920
RQLQEDAARL QAAYAGDKAD DIQKRENEVL EAWKSLLDAC ESRRVRLVDT GDKFRFFSMV
1930 1940 1950 1960 1970 1980
RDLMLWMEDV IRQIEAQEKP RDVSSVELLM NNHQGIKAEI DARNDSFTTC IELGKSLLAR
1990 2000 2010 2020 2030 2040
KHYASEEIKE KLLQLTEKRK EMIDKWEDRW EWLRLILEVH QFSRDASVAE AWLLGQEPYL
2050 2060 2070 2080 2090 2100
SSREIGQSVD EVEKLIKRHE AFEKSAATWD ERFSALERLT TLELLEVRRQ QEEEERKRRP
2110 2120 2130 2140 2150 2160
PSPEPSTKVS EEAESQQQWD TSKGEQVSQN GLPAEQGSPR MAETVDTSEM VNGATEQRTS
2170 2180 2190 2200 2210 2220
SKESSPIPSP TSDRKAKTAL PAQSAATLPA RTQETPSAQM EGFLNRKHEW EAHNKKASSR
2230 2240 2250 2260 2270 2280
SWHNVYCVIN NQEMGFYKDA KTAASGIPYH SEVPVSLKEA VCEVALDYKK KKHVFKLRLN
2290 2300 2310 2320 2330 2340
DGNEYLFQAK DDEEMNTWIQ AISSAISSDK HEVSASTQST PASSRAQTLP TSVVTITSES
2350 2360
SPGKREKDKE KDKEKRFSLF GKKK