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Entry version 179 (31 Jul 2019)
Sequence version 2 (16 Nov 2011)
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Protein

Active breakpoint cluster region-related protein

Gene

ABR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF-1 directed motility and phagocytosis through the modulation of RAC1 activity (By similarity).By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation, Guanine-nucleotide releasing factor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Active breakpoint cluster region-related proteinCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABRImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:81 ABR

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600365 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12979

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi683R → A: Reduces GAP activity. Loss of GAP activity; when associated with A-795. 1 Publication1
Mutagenesisi795N → A: Loss of GAP activity; when associated with A-683. 1 Publication1
Mutagenesisi859V → A: Abolishes interaction with DLG4. No effect on synaptic localization. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
29

Open Targets

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OpenTargetsi
ENSG00000159842

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24417

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABR

Domain mapping of disease mutations (DMDM)

More...
DMDMi
357528764

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000809021 – 859Active breakpoint cluster region-related proteinAdd BLAST859

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei57PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q12979

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q12979

MaxQB - The MaxQuant DataBase

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MaxQBi
Q12979

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q12979

PeptideAtlas

More...
PeptideAtlasi
Q12979

PRoteomics IDEntifications database

More...
PRIDEi
Q12979

ProteomicsDB human proteome resource

More...
ProteomicsDBi
26359
27736
59072 [Q12979-1]
59073 [Q12979-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q12979

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q12979

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000159842 Expressed in 231 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q12979 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q12979 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA053618
HPA054824

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DLG4.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106547, 17 interactors

Protein interaction database and analysis system

More...
IntActi
Q12979, 6 interactors

Molecular INTeraction database

More...
MINTi
Q12979

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000303909

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi417 – 420Poly-Leu4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form. The C-terminus is a Rho-GAP domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. The protein has a unique structure having two opposing regulatory activities toward small GTP-binding proteins.1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4269 Eukaryota
ENOG410XPGZ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153491

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000006779

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12979

KEGG Orthology (KO)

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KOi
K20629

Database of Orthologous Groups

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OrthoDBi
762492at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q12979

TreeFam database of animal gene trees

More...
TreeFami
TF105082

Family and domain databases

Conserved Domains Database

More...
CDDi
cd13366 PH_ABR, 1 hit
cd00160 RhoGEF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.555.10, 1 hit
1.20.900.10, 1 hit
2.60.40.150, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View 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

The PANTHER Classification System

More...
PANTHERi
PTHR23182 PTHR23182, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00168 C2, 1 hit
PF00169 PH, 1 hit
PF00620 RhoGAP, 1 hit
PF00621 RhoGEF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239 C2, 1 hit
SM00233 PH, 1 hit
SM00324 RhoGAP, 1 hit
SM00325 RhoGEF, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48065 SSF48065, 1 hit
SSF48350 SSF48350, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View 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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 21 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: Q12979-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 21 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L4Y1I3L4Y1_HUMAN
Active breakpoint cluster region-re...
ABR
434Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1C7CYZ0A0A1C7CYZ0_HUMAN
Active breakpoint cluster region-re...
ABR
871Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7Z683B7Z683_HUMAN
Active breakpoint cluster region-re...
ABR
641Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L3W0I3L3W0_HUMAN
Active breakpoint cluster region-re...
ABR
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JQ41A0A0G2JQ41_HUMAN
Active breakpoint cluster region-re...
ABR
777Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JQB5A0A0G2JQB5_HUMAN
Active breakpoint cluster region-re...
ABR
129Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2P5I3L2P5_HUMAN
Active breakpoint cluster region-re...
ABR
168Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1U8I3L1U8_HUMAN
Active breakpoint cluster region-re...
ABR
165Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2L3I3L2L3_HUMAN
Active breakpoint cluster region-re...
ABR
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L259I3L259_HUMAN
Active breakpoint cluster region-re...
ABR
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_057186517K → R1 PublicationCorresponds to variant dbSNP:rs34169260Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U01147 mRNA Translation: AAC50063.1
L19704 Genomic DNA Translation: AAC37519.1
L19705 Genomic DNA Translation: AAC37518.1
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS10999.1 [Q12979-1]
CCDS11000.1 [Q12979-2]
CCDS54060.1 [Q12979-4]
CCDS58497.1 [Q12979-3]

Protein sequence database of the Protein Information Resource

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PIRi
A47485
A49307

NCBI Reference Sequences

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RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000291107; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
29

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:29

UCSC genome browser

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UCSCi
uc002fsd.6 human [Q12979-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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
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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi106547, 17 interactors
IntActiQ12979, 6 interactors
MINTiQ12979
STRINGi9606.ENSP00000303909

PTM databases

iPTMnetiQ12979
PhosphoSitePlusiQ12979

Polymorphism and mutation databases

BioMutaiABR
DMDMi357528764

Proteomic databases

EPDiQ12979
jPOSTiQ12979
MaxQBiQ12979
PaxDbiQ12979
PeptideAtlasiQ12979
PRIDEiQ12979
ProteomicsDBi26359
27736
59072 [Q12979-1]
59073 [Q12979-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
29
DisGeNETi29

GeneCards: human genes, protein and diseases

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GeneCardsi
ABR
HGNCiHGNC:81 ABR
HPAiHPA053618
HPA054824
MIMi600365 gene
neXtProtiNX_Q12979
OpenTargetsiENSG00000159842
PharmGKBiPA24417

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4269 Eukaryota
ENOG410XPGZ LUCA
GeneTreeiENSGT00940000153491
HOGENOMiHOG000006779
InParanoidiQ12979
KOiK20629
OrthoDBi762492at2759
PhylomeDBiQ12979
TreeFamiTF105082

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ABR human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
29

Protein Ontology

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PROi
PR:Q12979

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000159842 Expressed in 231 organ(s), highest expression level in frontal cortex
ExpressionAtlasiQ12979 baseline and differential
GenevisibleiQ12979 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12979
Secondary accession number(s): B3KW89
, B7Z6H7, D3DTH3, D3DTH4, F5H3S2, F5H8B3, Q13693, Q13694
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 16, 2011
Last modified: July 31, 2019
This is version 179 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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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