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Protein

Active breakpoint cluster region-related protein

Gene

ABR

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

Functioni

GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGTPase activation, Guanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events

Names & Taxonomyi

Protein namesi
Recommended name:
Active breakpoint cluster region-related protein
Gene namesi
Name:ABR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000159842.14
HGNCiHGNC:81 ABR
MIMi600365 gene
neXtProtiNX_Q12979

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi29
OpenTargetsiENSG00000159842
PharmGKBiPA24417

Polymorphism and mutation databases

BioMutaiABR
DMDMi357528764

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000809021 – 859Active breakpoint cluster region-related proteinAdd BLAST859

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei57PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ12979
MaxQBiQ12979
PaxDbiQ12979
PeptideAtlasiQ12979
PRIDEiQ12979

PTM databases

iPTMnetiQ12979
PhosphoSitePlusiQ12979

Expressioni

Tissue specificityi

Highly enriched in the brain. Much weaker expression in heart, lung and muscle.

Gene expression databases

BgeeiENSG00000159842
CleanExiHS_ABR
ExpressionAtlasiQ12979 baseline and differential
GenevisibleiQ12979 HS

Organism-specific databases

HPAiHPA053618
HPA054824

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106547, 14 interactors
IntActiQ12979, 5 interactors
MINTiQ12979
STRINGi9606.ENSP00000303909

Structurei

3D structure databases

ProteinModelPortaliQ12979
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini91 – 284DHPROSITE-ProRule annotationAdd BLAST194
Domaini301 – 459PHPROSITE-ProRule annotationAdd BLAST159
Domaini463 – 595C2PROSITE-ProRule annotationAdd BLAST133
Domaini647 – 845Rho-GAPPROSITE-ProRule annotationAdd BLAST199

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi417 – 420Poly-Leu4

Phylogenomic databases

eggNOGiKOG4269 Eukaryota
ENOG410XPGZ LUCA
GeneTreeiENSGT00910000143995
HOGENOMiHOG000006779
HOVERGENiHBG004165
InParanoidiQ12979
KOiK20629
OrthoDBiEOG091G03M3
PhylomeDBiQ12979
TreeFamiTF105082

Family and domain databases

CDDicd13366 PH_ABR, 1 hit
cd00160 RhoGEF, 1 hit
Gene3Di1.10.555.10, 1 hit
1.20.900.10, 1 hit
2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR037769 Abr/Bcr
IPR037865 ABR_PH
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR001331 GDS_CDC24_CS
IPR001849 PH_domain
IPR008936 Rho_GTPase_activation_prot
IPR000198 RhoGAP_dom
PANTHERiPTHR23182 PTHR23182, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF00169 PH, 1 hit
PF00620 RhoGAP, 1 hit
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00233 PH, 1 hit
SM00324 RhoGAP, 1 hit
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
SSF48350 SSF48350, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
PS00741 DH_1, 1 hit
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS50238 RHOGAP, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: Q12979-1) [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
MEPLSHRGLP RLSWIDTLYS NFSYGTDEYD GEGNEEQKGP PEGSETMPYI
60 70 80 90 100
DESPTMSPQL SARSQGGGDG VSPTPPEGLA PGVEAGKGLE MRKLVLSGFL
110 120 130 140 150
ASEEIYINQL EALLLPMKPL KATATTSQPV LTIQQIETIF YKIQDIYEIH
160 170 180 190 200
KEFYDNLCPK VQQWDSQVTM GHLFQKLASQ LGVYKAFVDN YKVALETAEK
210 220 230 240 250
CSQSNNQFQK ISEELKVKGP KDSKDSHTSV TMEALLYKPI DRVTRSTLVL
260 270 280 290 300
HDLLKHTPVD HPDYPLLQDA LRISQNFLSS INEDIDPRRT AVTTPKGETR
310 320 330 340 350
QLVKDGFLVE VSESSRKLRH VFLFTDVLLC AKLKKTSAGK HQQYDCKWYI
360 370 380 390 400
PLADLVFPSP EESEASPQVH PFPDHELEDM KMKISALKSE IQKEKANKGQ
410 420 430 440 450
SRAIERLKKK MFENEFLLLL NSPTIPFRIH NRNGKSYLFL LSSDYERSEW
460 470 480 490 500
REAIQKLQKK DLQAFVLSSV ELQVLTGSCF KLRTVHNIPV TSNKDDDESP
510 520 530 540 550
GLYGFLHVIV HSAKGFKQSA NLYCTLEVDS FGYFVSKAKT RVFRDTAEPK
560 570 580 590 600
WDEEFEIELE GSQSLRILCY EKCYDKTKVN KDNNEIVDKI MGKGQIQLDP
610 620 630 640 650
QTVETKNWHT DVIEMNGIKV EFSMKFTSRD MSLKRTPSKK QTGVFGVKIS
660 670 680 690 700
VVTKRERSKV PYIVRQCVEE VEKRGIEEVG IYRISGVATD IQALKAVFDA
710 720 730 740 750
NNKDILLMLS DMDINAIAGT LKLYFRELPE PLLTDRLYPA FMEGIALSDP
760 770 780 790 800
AAKENCMMHL LRSLPDPNLI TFLFLLEHLK RVAEKEPINK MSLHNLATVF
810 820 830 840 850
GPTLLRPSEV ESKAHLTSAA DIWSHDVMAQ VQVLLYYLQH PPISFAELKR

NTLYFSTDV
Length:859
Mass (Da):97,598
Last modified:November 16, 2011 - v2
Checksum:i3A5BE3AD2455A194
GO
Isoform Short (identifier: Q12979-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-82: MEPLSHRGLP...PTPPEGLAPG → MEEEEEAIGL...SGSPFLVAVK

Show »
Length:822
Mass (Da):93,707
Checksum:i2B4632AC57FE8663
GO
Isoform 3 (identifier: Q12979-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: MEPLSHRGLP...GPPEGSETMP → MTDVLPQPDC...RVRNKLLRNK
     49-597: Missing.

Note: No experimental confirmation available.
Show »
Length:310
Mass (Da):35,101
Checksum:i23285EBBDBDE2B0E
GO
Isoform 4 (identifier: Q12979-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.

Note: No experimental confirmation available.
Show »
Length:813
Mass (Da):92,425
Checksum:iE14F70FFE3A3F5D2
GO

Sequence cautioni

The sequence AAC37518 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti67G → R in AAC50063 (PubMed:8262969).Curated1
Sequence conflicti483R → K in BAG54051 (PubMed:14702039).Curated1
Sequence conflicti625K → R in BAH13263 (PubMed:14702039).Curated1
Sequence conflicti657 – 660RSKV → VQGA in AAC37519 (PubMed:8349582).Curated4
Sequence conflicti761L → V in AAC37519 (PubMed:8349582).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057186517K → R1 PublicationCorresponds to variant dbSNP:rs34169260Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0018151 – 82MEPLS…GLAPG → MEEEEEAIGLLDKVLEDEDV FLLEECELGTPTSPGSGSPF LVAVK in isoform Short. CuratedAdd BLAST82
Alternative sequenceiVSP_0460291 – 48MEPLS…SETMP → MTDVLPQPDCSPKAGREPLA LEESGSKRPPNTGARLWGRV RNKLLRNK in isoform 3. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_0461481 – 46Missing in isoform 4. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_04603049 – 597Missing in isoform 3. 1 PublicationAdd BLAST549

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U01147 mRNA Translation: AAC50063.1
L19704 Genomic DNA Translation: AAC37519.1
L19705 Genomic DNA Translation: AAC37518.1 Different initiation.
AK124547 mRNA Translation: BAG54051.1
AK300336 mRNA Translation: BAH13263.1
AC015884 Genomic DNA No translation available.
AC016292 Genomic DNA No translation available.
AC144836 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90631.1
CH471108 Genomic DNA Translation: EAW90633.1
CH471108 Genomic DNA Translation: EAW90634.1
CH471108 Genomic DNA Translation: EAW90635.1
CCDSiCCDS10999.1 [Q12979-1]
CCDS11000.1 [Q12979-2]
CCDS54060.1 [Q12979-4]
CCDS58497.1 [Q12979-3]
PIRiA47485
A49307
RefSeqiNP_001083.2, NM_001092.4 [Q12979-2]
NP_001153218.1, NM_001159746.2 [Q12979-4]
NP_001243776.1, NM_001256847.2 [Q12979-3]
NP_001269078.1, NM_001282149.1
NP_001309769.1, NM_001322840.1 [Q12979-4]
NP_068781.2, NM_021962.4 [Q12979-1]
UniGeneiHs.159306
Hs.677395

Genome annotation databases

EnsembliENST00000291107; ENSP00000291107; ENSG00000159842 [Q12979-2]
ENST00000302538; ENSP00000303909; ENSG00000159842 [Q12979-1]
ENST00000543210; ENSP00000445198; ENSG00000159842 [Q12979-3]
ENST00000544583; ENSP00000442048; ENSG00000159842 [Q12979-4]
ENST00000611009; ENSP00000484030; ENSG00000276016 [Q12979-3]
ENST00000611021; ENSP00000483168; ENSG00000278741 [Q12979-2]
ENST00000612118; ENSP00000481740; ENSG00000278741 [Q12979-1]
ENST00000615642; ENSP00000479455; ENSG00000278741 [Q12979-3]
ENST00000620619; ENSP00000478880; ENSG00000278741 [Q12979-4]
ENST00000625740; ENSP00000486511; ENSG00000276016 [Q12979-2]
ENST00000627258; ENSP00000486214; ENSG00000278741 [Q12979-4]
GeneIDi29
KEGGihsa:29
UCSCiuc002fsd.6 human [Q12979-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiABR_HUMAN
AccessioniPrimary (citable) accession number: Q12979
Secondary accession number(s): B3KW89
, B7Z6H7, D3DTH3, D3DTH4, F5H3S2, F5H8B3, Q13693, Q13694
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 16, 2011
Last modified: May 23, 2018
This is version 168 of the entry and version 2 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

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