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UniProtKB - Q12979 (ABR_HUMAN)

Entry version 193 (23 Feb 2022)
Sequence version 2 (16 Nov 2011)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q12979

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-193648, NRAGE signals death through JNK
R-HSA-416482, G alpha (12/13) signalling events
R-HSA-8980692, RHOA GTPase cycle
R-HSA-9013026, RHOB GTPase cycle
R-HSA-9013106, RHOC GTPase cycle
R-HSA-9013148, CDC42 GTPase cycle
R-HSA-9013149, RAC1 GTPase cycle
R-HSA-9013404, RAC2 GTPase cycle
R-HSA-9013423, RAC3 GTPase cycle

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q12979

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q12979

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

More...HGNCi		HGNC:81, ABR

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600365, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q12979

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000159842

<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

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%5Fand%5Fbiotech%5Fsection">'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

More...OpenTargetsi		ENSG00000159842

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24417

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q12979, Tbio

Genetic variation 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 or proteolytic cleavage.<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

More...EPDi		Q12979

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q12979

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q12979

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q12979

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

More...PaxDbi		Q12979

PeptideAtlas

More...PeptideAtlasi		Q12979

PRoteomics IDEntifications database

More...PRIDEi		Q12979

ProteomicsDB: a multi-organism 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.

More...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 frontal cortex and 241 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...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		ENSG00000159842, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DLG4.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106547, 26 interactors

Protein interaction database and analysis system

More...IntActi		Q12979, 7 interactors

Molecular INTeraction database

More...MINTi		Q12979

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000303909

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q12979, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q12979

Database of comparative protein structure models

More...ModBasei		Search...

<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%5Fand%5Fdomains%5Fsection">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
Domaini484 – 613C2PROSITE-ProRule annotationAdd BLAST130
Domaini647 – 845Rho-GAPPROSITE-ProRule annotationAdd BLAST199

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni26 – 84DisorderedSequence analysisAdd BLAST59

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi50 – 68Polar residuesSequence analysisAdd BLAST19

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153491

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004000_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q12979

Identification of Orthologs from Complete Genome Data

More...OMAi		TMFYKIP

Database of Orthologous Groups

More...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
2.30.29.30, 1 hit
2.60.40.150, 1 hit

Integrated resource of protein families, domains and functional sites

More...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
IPR011993, PH-like_dom_sf
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
SSF49562, SSF49562, 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 <p><strong>What is the canonical sequence?</strong><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.

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.

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
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>
I3L4Y1I3L4Y1_HUMAN
Active breakpoint cluster region-re...
ABR
1,118Annotation 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: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>
A0A0G2JQ41A0A0G2JQ41_HUMAN
Active breakpoint cluster region-re...
ABR
777Annotation 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>
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>
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>
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>
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>
I3NI05I3NI05_HUMAN
Active breakpoint cluster region-re...
ABR
191Annotation 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>
I3L2C0I3L2C0_HUMAN
Active breakpoint cluster region-re...
ABR
153Annotation 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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

More...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

More...PIRi		A47485
A49307

NCBI Reference Sequences

More...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

More...Ensembli		ENST00000291107; ENSP00000291107; ENSG00000159842 [Q12979-2]
ENST00000302538; ENSP00000303909; ENSG00000159842
ENST00000543210; ENSP00000445198; ENSG00000159842 [Q12979-3]
ENST00000544583; ENSP00000442048; ENSG00000159842 [Q12979-4]
ENST00000611009; ENSP00000484030; ENSG00000276016 [Q12979-3]
ENST00000611021; ENSP00000483168; ENSG00000278741 [Q12979-2]
ENST00000612118; ENSP00000481740; ENSG00000278741
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

More...GeneIDi		29

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:29

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000302538.10; ENSP00000303909.5; NM_021962.5; NP_068781.2

UCSC genome browser

More...UCSCi		uc002fsd.6, human [Q12979-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

SMRiQ12979
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi106547, 26 interactors
IntActiQ12979, 7 interactors
MINTiQ12979
STRINGi9606.ENSP00000303909

PTM databases

iPTMnetiQ12979
PhosphoSitePlusiQ12979

Genetic variation databases

BioMutaiABR
DMDMi357528764

Proteomic databases

EPDiQ12979
jPOSTiQ12979
MassIVEiQ12979
MaxQBiQ12979
PaxDbiQ12979
PeptideAtlasiQ12979
PRIDEiQ12979
ProteomicsDBi26359
27736
59072 [Q12979-1]
59073 [Q12979-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22668, 75 antibodies from 19 providers

The DNASU plasmid repository

More...DNASUi		29

Genome annotation databases

EnsembliENST00000291107; ENSP00000291107; ENSG00000159842 [Q12979-2]
ENST00000302538; ENSP00000303909; ENSG00000159842
ENST00000543210; ENSP00000445198; ENSG00000159842 [Q12979-3]
ENST00000544583; ENSP00000442048; ENSG00000159842 [Q12979-4]
ENST00000611009; ENSP00000484030; ENSG00000276016 [Q12979-3]
ENST00000611021; ENSP00000483168; ENSG00000278741 [Q12979-2]
ENST00000612118; ENSP00000481740; ENSG00000278741
ENST00000615642; ENSP00000479455; ENSG00000278741 [Q12979-3]
ENST00000620619; ENSP00000478880; ENSG00000278741 [Q12979-4]
ENST00000625740; ENSP00000486511; ENSG00000276016 [Q12979-2]
ENST00000627258; ENSP00000486214; ENSG00000278741 [Q12979-4]
GeneIDi29
KEGGihsa:29
MANE-SelectiENST00000302538.10; ENSP00000303909.5; NM_021962.5; NP_068781.2
UCSCiuc002fsd.6, human [Q12979-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		29
DisGeNETi29

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABR
HGNCiHGNC:81, ABR
HPAiENSG00000159842, Low tissue specificity
MIMi600365, gene
neXtProtiNX_Q12979
OpenTargetsiENSG00000159842
PharmGKBiPA24417
VEuPathDBiHostDB:ENSG00000159842

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4269, Eukaryota
GeneTreeiENSGT00940000153491
HOGENOMiCLU_004000_1_0_1
InParanoidiQ12979
OMAiTMFYKIP
OrthoDBi762492at2759
PhylomeDBiQ12979
TreeFamiTF105082

Enzyme and pathway databases

PathwayCommonsiQ12979
ReactomeiR-HSA-193648, NRAGE signals death through JNK
R-HSA-416482, G alpha (12/13) signalling events
R-HSA-8980692, RHOA GTPase cycle
R-HSA-9013026, RHOB GTPase cycle
R-HSA-9013106, RHOC GTPase cycle
R-HSA-9013148, CDC42 GTPase cycle
R-HSA-9013149, RAC1 GTPase cycle
R-HSA-9013404, RAC2 GTPase cycle
R-HSA-9013423, RAC3 GTPase cycle
SignaLinkiQ12979
SIGNORiQ12979

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		29, 11 hits in 1037 CRISPR screens

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

More...ChiTaRSi		ABR, human

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

More...GenomeRNAii		29
PharosiQ12979, Tbio

Protein Ontology

More...PROi		PR:Q12979
RNActiQ12979, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000159842, Expressed in frontal cortex and 241 other tissues
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
2.30.29.30, 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
IPR011993, PH-like_dom_sf
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
SSF49562, SSF49562, 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

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%5Fand%5Fisoforms">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: February 23, 2022
This is version 193 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

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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