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

    Gene ID: 29, updated on 5-Jan-2022

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ABR in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    109.20211119 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 nucleoredoxin Neighboring gene uncharacterized LOC101927727 Neighboring gene Sharpr-MPRA regulatory region 13189 Neighboring gene Sharpr-MPRA regulatory region 9475 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 mitochondrial ribosomal protein L14 pseudogene 1 Neighboring gene ABR antisense RNA 1 Neighboring gene uncharacterized LOC107984980 Neighboring gene basic helix-loop-helix family member a9

    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

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001092.5NP_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/Swiss-Prot
      Q12979
      UniProtKB/TrEMBL
      B7Z2X0, Q6ZT60
      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/Swiss-Prot
      Q12979
      UniProtKB/TrEMBL
      B7Z7Z1, Q6ZT60
      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/Swiss-Prot
      Q12979
      UniProtKB/TrEMBL
      B7Z683, B7Z7Z1, Q6ZT60
      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/Swiss-Prot
      Q12979
      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
      UniProtKB/TrEMBL
      B7Z7Z1, Q6ZT60
      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
      Q12979
      UniProtKB/TrEMBL
      B7Z7Z1, Q6ZT60
      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: Homo sapiens Updated Annotation Release 109.20211119

    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_017024539.1XP_016880028.1  active breakpoint cluster region-related protein isoform X1

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

    3. XM_011523814.3XP_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:460580
      C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
      cd04387
      Location:599813
      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:231414
      PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
      pfam00621
      Location:49237
      RhoGEF; RhoGEF domain
    4. XM_011523810.3XP_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: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:645859
      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
    5. XM_011523815.3XP_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:460580
      C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
      cd04387
      Location:599813
      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:231414
      PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
      pfam00621
      Location:49237
      RhoGEF; RhoGEF domain
    6. XM_011523813.3XP_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:469589
      C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
      cd04387
      Location:608822
      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:240423
      PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
      pfam00621
      Location:58246
      RhoGEF; RhoGEF domain
    7. XM_011523812.3XP_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:493613
      C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein
      cd04387
      Location:632846
      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:264447
      PH_ABR; Active breakpoint cluster region-related protein pleckstrin homology (PH) domain
      pfam00621
      Location:82270
      RhoGEF; RhoGEF domain
    8. XM_017024543.2XP_016880032.1  active breakpoint cluster region-related protein isoform X10

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

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

    11. XM_011523811.3XP_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)
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