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

Gene ID: 29, updated on 17-Jun-2024

Summary

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
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Genomic context

See ABR in Genome Data Viewer
Location:
17p13.3
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1003519..1229722, complement)
RS_2023_10 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 uncharacterized LOC124903894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:753668-754242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:754898-755398 Neighboring gene nucleoredoxin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:773909-774736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:790499-790998 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:800010-801209 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:801761-802401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:802905-803406 Neighboring gene uncharacterized LOC101927727 Neighboring gene Sharpr-MPRA regulatory region 13189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:821769-822286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:827078-827634 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:827635-828190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:830369-831259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:849438-850330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:850331-851222 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:853008-853900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:858382-858882 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:858973-859201 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:865783-866755 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:867917-868670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:868671-869424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:875671-876172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:876173-876672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:881929-882864 Neighboring gene Sharpr-MPRA regulatory region 9475 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 Neanderthal introgressed variant-containing enhancer experimental_47633 Neighboring gene uncharacterized LOC124903895 Neighboring gene translocase of inner mitochondrial membrane 22 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:951533-952418 Neighboring gene microRNA 3183 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 H3K4me1 hESC enhancer GRCh37_chr17:1083316-1084082 Neighboring gene mitochondrial ribosomal protein L14 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11443 Neighboring gene MPRA-validated peak2673 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1119641-1120638 Neighboring gene ABR antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1123483-1123982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1131887-1132591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7948 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:1167109-1167284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1170929-1171732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1171733-1172535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1174140-1174890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1202102-1202696 Neighboring gene basic helix-loop-helix family member a9 Neighboring gene trafficking regulator of GLUT4 (SLC2A4) 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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
 

General protein information

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_001092.5NP_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/TrEMBL
    A0A0G2JQ41
    Related
    ENSP00000291107.2, ENST00000291107.6
    Conserved Domains (4) summary
    cd08686
    Location:469589
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd00160
    Location:55245
    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:608803
    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:240423
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
  2. NM_001159746.3NP_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/TrEMBL
    B7Z7Z1
    Related
    ENSP00000442048.2, ENST00000544583.6
    Conserved Domains (4) summary
    cd08686
    Location:460580
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd00160
    Location:46236
    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:599794
    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:231414
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
  3. NM_001256847.3NP_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:96291
    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:4977
    C2; C2 domain
  4. NM_001282149.2NP_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/TrEMBL
    A0A0G2JQ41, B7Z683
    Related
    ENSP00000437429.2, ENST00000536794.6
    Conserved Domains (4) summary
    cd08686
    Location:288408
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd04387
    Location:427622
    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:59242
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
    cl02571
    Location:1764
    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_001322840.2NP_001309769.1  active breakpoint cluster region-related protein isoform c

    Status: REVIEWED

    Source sequence(s)
    AC015884, AC016292
    Consensus CDS
    CCDS54060.1
    UniProtKB/TrEMBL
    B7Z7Z1
    Related
    ENSP00000461565.2, ENST00000574437.5
    Conserved Domains (4) summary
    cd08686
    Location:460580
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd00160
    Location:46236
    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:599794
    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:231414
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
  6. NM_001322841.2NP_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
    I3L4Y1
    Related
    ENSP00000461629.3, ENST00000574139.7
  7. NM_001322842.2NP_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:365
    Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerization domain
  8. NM_021962.5NP_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
    B3KW89, B7Z6H7, D3DTH3, D3DTH4, F5H3S2, F5H8B3, Q12979, Q13693, Q13694
    UniProtKB/TrEMBL
    A0A1C7CYZ0
    Related
    ENSP00000303909.5, ENST00000302538.10
    Conserved Domains (4) summary
    cd08686
    Location:506626
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd00160
    Location:92282
    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:645840
    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:277460
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)