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

Gene ID: 29, updated on 17-Apr-2021

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
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:
36
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (1003519..1229722, complement)
105.20201022 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 glyoxalase domain containing 4 Neighboring gene mitochondrial rRNA methyltransferase 3 Neighboring gene nucleoredoxin Neighboring gene uncharacterized LOC101927727 Neighboring gene uncharacterized LOC112268190 Neighboring gene uncharacterized LOC105371481 Neighboring gene translocase of inner mitochondrial membrane 22 Neighboring gene microRNA 3183 Neighboring gene uncharacterized LOC105379599 Neighboring gene uncharacterized LOC105371480 Neighboring gene uncharacterized LOC105371479 Neighboring gene mitochondrial ribosomal protein L14 pseudogene 1 Neighboring gene uncharacterized LOC107984980 Neighboring gene basic helix-loop-helix family member a9

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 (42) 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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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
GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
  
activation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
modulation of chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
  
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse ISS
Inferred from Sequence or Structural Similarity
more info
  
axon IEA
Inferred from Electronic Annotation
more info
  
cytosol TAS
Traceable Author Statement
more info
  
dendritic spine IEA
Inferred from Electronic Annotation
more info
  
glutamatergic synapse ISS
Inferred from Sequence or Structural Similarity
more info
  
membrane HDA PubMed 
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
    47409..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
    UniProtKB/TrEMBL
    B7Z7Z1, Q6ZT60

  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
    UniProtKB/TrEMBL
    B7Z7Z1, Q6ZT60
    Related
    ENSP00000303909.5, ENST00000302538.9
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017024539.1 → XP_016880028.1  active breakpoint cluster region-related protein isoform X1

  2. XM_017024540.2 → XP_016880029.1  active breakpoint cluster region-related protein isoform X2

  3. XM_011523814.3 → XP_011522116.1  active breakpoint cluster region-related protein isoform X8

    See identical proteins and their annotated locations for XP_011522116.1

    Conserved Domains (4) summary
    cd08686
    Location:460 → 580
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd04387
    Location:599 → 813
    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, ...
    cd13366
    Location:231 → 414
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
    pfam00621
    Location:49 → 237
    RhoGEF; RhoGEF domain

  4. XM_011523810.3 → XP_011522112.1  active breakpoint cluster region-related protein isoform X3

    See identical proteins and their annotated locations for XP_011522112.1

    Conserved Domains (4) summary
    cd08686
    Location:506 → 626
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd04387
    Location:645 → 859
    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, ...
    cd13366
    Location:277 → 460
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
    pfam00621
    Location:95 → 283
    RhoGEF; RhoGEF domain

  5. XM_011523815.3 → XP_011522117.1  active breakpoint cluster region-related protein isoform X8

    See identical proteins and their annotated locations for XP_011522117.1

    Conserved Domains (4) summary
    cd08686
    Location:460 → 580
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd04387
    Location:599 → 813
    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, ...
    cd13366
    Location:231 → 414
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
    pfam00621
    Location:49 → 237
    RhoGEF; RhoGEF domain

  6. XM_011523813.3 → XP_011522115.1  active breakpoint cluster region-related protein isoform X7

    See identical proteins and their annotated locations for XP_011522115.1

    Conserved Domains (4) summary
    cd08686
    Location:469 → 589
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd04387
    Location:608 → 822
    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, ...
    cd13366
    Location:240 → 423
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
    pfam00621
    Location:58 → 246
    RhoGEF; RhoGEF domain

  7. XM_011523812.3 → XP_011522114.1  active breakpoint cluster region-related protein isoform X5

    See identical proteins and their annotated locations for XP_011522114.1

    Conserved Domains (4) summary
    cd08686
    Location:493 → 613
    C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
    cd04387
    Location:632 → 846
    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, ...
    cd13366
    Location:264 → 447
    PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
    pfam00621
    Location:82 → 270
    RhoGEF; RhoGEF domain

  8. XM_017024543.2 → XP_016880032.1  active breakpoint cluster region-related protein isoform X10

  9. XM_017024542.2 → XP_016880031.1  active breakpoint cluster region-related protein isoform X9

  10. XM_017024541.2 → XP_016880030.1  active breakpoint cluster region-related protein isoform X6

  11. XM_011523811.3 → XP_011522113.2  active breakpoint cluster region-related protein isoform X4

RNA

  1. XR_934019.3 RNA Sequence

  2. XR_001752501.2 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187613.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187664.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    42766..153205 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

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