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ABR ABR activator of RhoGEF and GTPase [ Homo sapiens (human) ]

Gene ID: 29, updated on 29-Mar-2023

Summary

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Official Symbol
ABRprovided by HGNC
Official Full Name
ABR activator of RhoGEF and GTPaseprovided by HGNC
Primary source
HGNC:HGNC:81
See related
Ensembl:ENSG00000159842 MIM:600365; AllianceGenome:HGNC:81
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MDB
Summary
This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]
Expression
Ubiquitous expression in brain (RPKM 31.0), heart (RPKM 11.9) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See ABR in Genome Data Viewer
Location:
17p13.3
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1003519..1229722, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (890209..1120740, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (906759..1133016, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:891083-891953 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:900391-901082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:908184-908942 Neighboring gene uncharacterized LOC105371481 Neighboring gene translocase of inner mitochondrial membrane 22 Neighboring gene uncharacterized LOC124903895 Neighboring gene microRNA 3183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:951533-952418 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:965257-965880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:973072-973572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:973573-974073 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:1017969-1018612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1026293-1026834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1026835-1027376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1051001-1051500 Neighboring gene uncharacterized LOC105371480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1056837-1057366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1057367-1057897 Neighboring gene mitochondrial ribosomal protein L14 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1083316-1084082 Neighboring gene ABR antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1119641-1120638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1123483-1123982 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1131887-1132591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1170929-1171732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1171733-1172535

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A RHO Small GTPase Regulator ABR Secures Mitotic Fidelity in Human Embryonic Stem Cells. Ohgushi M, et al. Stem Cell Reports, 2017 Jul 11. PMID 28579391, Free PMC Article
  2. Human ABR encodes a protein with GAPrac activity and homology to the DBL nucleotide exchange factor domain. Heisterkamp N, et al. J Biol Chem, 1993 Aug 15. PMID 8349582
  3. The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange proteins and GTPase-activating proteins. Tan EC, et al. J Biol Chem, 1993 Dec 25. PMID 8262969
  4. Physical mapping of chromosome 17p13.3 in the region of a putative tumor suppressor gene important in medulloblastoma. McDonald JD, et al. Genomics, 1994 Sep 1. PMID 7829075
  5. ABR, an active BCR-related gene. Heisterkamp N, et al. Nucleic Acids Res, 1989 Nov 11. PMID 2587217, Free PMC Article

See all (48) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The knockdown of GULP1 and ABR using siRNAs decreased phagocytosis by 40%.
    Title: Genomic/proteomic analyses of dexamethasone-treated human trabecular meshwork cells reveal a role for GULP1 and ABR in phagocytosis.
  2. ABR depletion leads to G2/M accumulation in human embryonic stem cells. Centrosome dynamics and mitotic fidelity are compromised upon ABR depletion. When mitosis progresses without ABR, human embryonic stem cells show a high incidence of aneuploidy.
    Title: A RHO Small GTPase Regulator ABR Secures Mitotic Fidelity in Human Embryonic Stem Cells.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. During vestibular morphogenesis, Abr and Bcr play complementary roles. Small Rho-related GTPases like Abr and Bcr are important for balance and motor coordination.
    Title: Vestibular dysgenesis in mice lacking Abr and Bcr Cdc42/RacGAPs.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-09-05)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-09-05)

ClinGen Genome Curation Page

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of active BCR-related (ABR) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23135, FLJ45954

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase activator activity TAS
Traceable Author Statement
more info
  
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in modulation of chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
involved_in small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axon IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
active breakpoint cluster region-related protein
Names
ABR, RhoGEF and GTPase activating protein
active BCR-related

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011987.2 RefSeqGene

    Range
    54700..231162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001092.5 → NP_001083.2  active breakpoint cluster region-related protein isoform b

    See identical proteins and their annotated locations for NP_001083.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC015884, AK124547, AK126882, AK127851, AK295191, AL135250, DA106008, DA327723
    Consensus CDS
    CCDS11000.1
    UniProtKB/Swiss-Prot
    Q12979
    UniProtKB/TrEMBL
    B7Z2X0, Q6ZT60
    Related
    ENSP00000291107.2, ENST00000291107.6
    Conserved Domains (4) summary
    cd08686
    Location:469 → 589
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd00160
    Location:55 → 245
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd04387
    Location:608 → 803
    RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...
    cd13366
    Location:240 → 423
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain

  2. NM_001159746.3 → NP_001153218.1  active breakpoint cluster region-related protein isoform c

    See identical proteins and their annotated locations for NP_001153218.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 3 and 6 encode the same isoform (c).
    Source sequence(s)
    AC015884, AC016292, AK124547, AK126882, AK127851, AK302682, AL135250, DA327723
    Consensus CDS
    CCDS54060.1
    UniProtKB/Swiss-Prot
    Q12979
    UniProtKB/TrEMBL
    B7Z7Z1, Q6ZT60
    Related
    ENSP00000442048.2, ENST00000544583.6
    Conserved Domains (4) summary
    cd08686
    Location:460 → 580
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd00160
    Location:46 → 236
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd04387
    Location:599 → 794
    RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...
    cd13366
    Location:231 → 414
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain

  3. NM_001256847.3 → NP_001243776.1  active breakpoint cluster region-related protein isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a large portion of the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC015884, AK124547, AK126882, AK127851, AK299909, AK300336, AL135250, HY132628
    Consensus CDS
    CCDS58497.1
    UniProtKB/Swiss-Prot
    Q12979
    UniProtKB/TrEMBL
    B7Z683, Q6ZT60
    Related
    ENSP00000445198.2, ENST00000543210.6
    Conserved Domains (2) summary
    cd04387
    Location:96 → 291
    RhoGAP_Bcr; RhoGAP_Bcr: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, ...
    cl14603
    Location:49 → 77
    C2; C2 domain

  4. NM_001282149.2 → NP_001269078.1  active breakpoint cluster region-related protein isoform e

    See identical proteins and their annotated locations for NP_001269078.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC015884, AK124547, AK126882, AK127851, AK299909, AK302682, AL135250, DA327723
    Consensus CDS
    CCDS73936.1
    UniProtKB/Swiss-Prot
    Q12979
    UniProtKB/TrEMBL
    B7Z683, B7Z7Z1, Q6ZT60
    Related
    ENSP00000437429.2, ENST00000536794.6
    Conserved Domains (4) summary
    cd08686
    Location:288 → 408
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd04387
    Location:427 → 622
    RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...
    cd13366
    Location:59 → 242
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
    cl02571
    Location:17 → 64
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

  5. NM_001322840.2 → NP_001309769.1  active breakpoint cluster region-related protein isoform c

    Status: REVIEWED

    Source sequence(s)
    AC015884, AC016292
    Consensus CDS
    CCDS54060.1
    UniProtKB/Swiss-Prot
    Q12979
    Related
    ENSP00000461565.2, ENST00000574437.5
    Conserved Domains (4) summary
    cd08686
    Location:460 → 580
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd00160
    Location:46 → 236
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd04387
    Location:599 → 794
    RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...
    cd13366
    Location:231 → 414
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain

  6. NM_001322841.2 → NP_001309770.1  active breakpoint cluster region-related protein isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) initiates from an upstream promoter and differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (f) has distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    AC015884, AC144836, AK126882, AK127851, AK302682, AL135250, BE675741, BM547076
    Consensus CDS
    CCDS92217.1
    UniProtKB/TrEMBL
    B7Z7Z1, I3L4Y1, Q6ZT60
    Related
    ENSP00000461629.3, ENST00000574139.7

  7. NM_001322842.2 → NP_001309771.1  active breakpoint cluster region-related protein isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 3' coding region and 3' UTR and lacks multiple 3' coding exons compared to variant 1. The encoded isoform (g) has a distinct N- and C- termini and is shorter than isoform a.
    Source sequence(s)
    AC144836
    Conserved Domains (1) summary
    pfam09036
    Location:3 → 65
    Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerization domain

  8. NM_021962.5 → NP_068781.2  active breakpoint cluster region-related protein isoform a

    See identical proteins and their annotated locations for NP_068781.2

    Status: REVIEWED

    Source sequence(s)
    AC015884, AC016292, AK124547, AK126882, AK127851, AK302682, AL135250, DA327723, DR003682, HY115199, HY133863, U01147
    Consensus CDS
    CCDS10999.1
    UniProtKB/Swiss-Prot
    Q12979, Q13694
    UniProtKB/TrEMBL
    B7Z7Z1, Q6ZT60
    Related
    ENSP00000303909.5, ENST00000302538.10
    Conserved Domains (4) summary
    cd08686
    Location:506 → 626
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd00160
    Location:92 → 282
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd04387
    Location:645 → 840
    RhoGAP_Bcr; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, a Ser/Thr ...
    cd13366
    Location:277 → 460
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    1003519..1229722 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187613.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    42766..231744 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187664.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    42766..153205 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    890209..1120740 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12979.2 GenPept UniProtKB/Swiss-Prot:Q12979

Gene LinkOut

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