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    ARHGAP27 Rho GTPase activating protein 27 [ Homo sapiens (human) ]

    Gene ID: 201176, updated on 15-Jun-2019

    Summary

    Official Symbol
    ARHGAP27provided by HGNC
    Official Full Name
    Rho GTPase activating protein 27provided by HGNC
    Primary source
    HGNC:HGNC:31813
    See related
    Ensembl:ENSG00000159314 MIM:610591
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PP905; SH3D20; SH3P20; CAMGAP1
    Summary
    This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in esophagus (RPKM 12.5), spleen (RPKM 12.5) and 23 other tissues See more
    Orthologs

    Genomic context

    See ARHGAP27 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (45393902..45432916, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43471268..43510282, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 443 Neighboring gene uncharacterized LOC105371796 Neighboring gene pleckstrin homology and RUN domain containing M1 Neighboring gene microRNA 4315-1 Neighboring gene uncharacterized LOC105369225 Neighboring gene leucine rich repeat containing 37 member A4, pseudogene

    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

    Pathways from BioSystems

    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ35572, FLJ43547, FLJ76025, MGC78393, MGC120624

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    SH3 domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    positive regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    receptor-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    rho GTPase-activating protein 27
    Names
    CIN85-associated multi-domain-containing Rho GTPase-activating protein 1
    SH3 domain containing 20
    SH3 domain-containing protein 20
    rho-type GTPase-activating protein 27

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001282290.1NP_001269219.1  rho GTPase-activating protein 27 isoform d

      See identical proteins and their annotated locations for NP_001269219.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (d).
      Source sequence(s)
      AC003070, AC091132
      Consensus CDS
      CCDS74082.1
      UniProtKB/Swiss-Prot
      Q6ZUM4
      Related
      ENSP00000403323.1, ENST00000428638.5
      Conserved Domains (6) summary
      smart00456
      Location:417443
      WW; Domain with 2 conserved Trp (W) residues
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      cd04403
      Location:695881
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:499613
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:499611
      PH; PH domain
      pfam00397
      Location:247278
      WW; WW domain
    2. NM_174919.3NP_777579.2  rho GTPase-activating protein 27 isoform c

      See identical proteins and their annotated locations for NP_777579.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) is a short variant at the 5' end of a much longer ARHGAP27 gene, and differs in the UTRs and CDS compared to variant 4. The encoded isoform (c) is shorter than isoform d.
      Source sequence(s)
      AF258593, BC067345
      Consensus CDS
      CCDS32670.1
      UniProtKB/Swiss-Prot
      Q6ZUM4
      Related
      ENSP00000290470.3, ENST00000290470.3
      Conserved Domains (1) summary
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
    3. NM_199282.3NP_954976.1  rho GTPase-activating protein 27 isoform a

      See identical proteins and their annotated locations for NP_954976.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is a short variant at the 3' end of a longer ARHGAP27 gene and differs in the 5' UTR and CDS compared to variant 4. The encoded isoform (a) is shorter than isoform d.
      Source sequence(s)
      AK125535, BC029634, BC101391, BX386761, CD675139
      Consensus CDS
      CCDS11498.1
      UniProtKB/Swiss-Prot
      Q6ZUM4
      UniProtKB/TrEMBL
      Q8N2Y9
      Related
      ENSP00000366121.2, ENST00000376922.6
      Conserved Domains (5) summary
      smart00456
      Location:76102
      WW; Domain with 2 conserved Trp (W) residues
      cd00201
      Location:5282
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd04403
      Location:354540
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:158272
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:158270
      PH; PH domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    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
      45393902..45432916 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524471.1XP_011522773.1  rho GTPase-activating protein 27 isoform X6

      See identical proteins and their annotated locations for XP_011522773.1

      Conserved Domains (6) summary
      smart00456
      Location:360386
      WW; Domain with 2 conserved Trp (W) residues
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      cd04403
      Location:671857
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:442556
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:442554
      PH; PH domain
      pfam00397
      Location:247278
      WW; WW domain
    2. XM_006721747.2XP_006721810.1  rho GTPase-activating protein 27 isoform X5

      See identical proteins and their annotated locations for XP_006721810.1

      UniProtKB/TrEMBL
      E9PIR1
      Related
      ENSP00000433942.1, ENST00000532891.6
      Conserved Domains (6) summary
      smart00456
      Location:417443
      WW; Domain with 2 conserved Trp (W) residues
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      cd04403
      Location:673859
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:477591
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:477589
      PH; PH domain
      pfam00397
      Location:247278
      WW; WW domain
    3. XM_011524469.1XP_011522771.1  rho GTPase-activating protein 27 isoform X2

      See identical proteins and their annotated locations for XP_011522771.1

      Conserved Domains (6) summary
      smart00456
      Location:417443
      WW; Domain with 2 conserved Trp (W) residues
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      cd04403
      Location:706892
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:477591
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:477589
      PH; PH domain
      pfam00397
      Location:247278
      WW; WW domain
    4. XM_006721745.2XP_006721808.1  rho GTPase-activating protein 27 isoform X3

      See identical proteins and their annotated locations for XP_006721808.1

      UniProtKB/Swiss-Prot
      Q6ZUM4
      Conserved Domains (6) summary
      smart00456
      Location:417443
      WW; Domain with 2 conserved Trp (W) residues
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      cd04403
      Location:695881
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:499613
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:499611
      PH; PH domain
      pfam00397
      Location:247278
      WW; WW domain
    5. XM_011524468.1XP_011522770.1  rho GTPase-activating protein 27 isoform X1

      See identical proteins and their annotated locations for XP_011522770.1

      Conserved Domains (6) summary
      smart00456
      Location:417443
      WW; Domain with 2 conserved Trp (W) residues
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      cd04403
      Location:728914
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:499613
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:499611
      PH; PH domain
      pfam00397
      Location:247278
      WW; WW domain
    6. XM_011524470.2XP_011522772.1  rho GTPase-activating protein 27 isoform X4

      See identical proteins and their annotated locations for XP_011522772.1

      Conserved Domains (6) summary
      smart00456
      Location:417443
      WW; Domain with 2 conserved Trp (W) residues
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      cd13233
      Location:499613
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:499611
      PH; PH domain
      pfam00397
      Location:247278
      WW; WW domain
      cl02570
      Location:728828
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    7. XM_017024311.1XP_016879800.1  rho GTPase-activating protein 27 isoform X1

      Conserved Domains (6) summary
      smart00456
      Location:417443
      WW; Domain with 2 conserved Trp (W) residues
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      cd04403
      Location:728914
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:499613
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:499611
      PH; PH domain
      pfam00397
      Location:247278
      WW; WW domain
    8. XM_011524474.1XP_011522776.1  rho GTPase-activating protein 27 isoform X13

      See identical proteins and their annotated locations for XP_011522776.1

      Conserved Domains (5) summary
      smart00456
      Location:76102
      WW; Domain with 2 conserved Trp (W) residues
      cd00201
      Location:5282
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd04403
      Location:387573
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:158272
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:158270
      PH; PH domain
    9. XM_005257128.3XP_005257185.1  rho GTPase-activating protein 27 isoform X9

      See identical proteins and their annotated locations for XP_005257185.1

      UniProtKB/TrEMBL
      E9PNT2
      Related
      ENSP00000432762.1, ENST00000532038.5
      Conserved Domains (5) summary
      smart00456
      Location:217243
      WW; Domain with 2 conserved Trp (W) residues
      cd04403
      Location:473659
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:277391
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:277389
      PH; PH domain
      pfam00397
      Location:4778
      WW; WW domain
    10. XM_011524472.2XP_011522774.1  rho GTPase-activating protein 27 isoform X7

      See identical proteins and their annotated locations for XP_011522774.1

      Conserved Domains (5) summary
      smart00456
      Location:217243
      WW; Domain with 2 conserved Trp (W) residues
      cd04403
      Location:528714
      RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...
      cd13233
      Location:299413
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:299411
      PH; PH domain
      pfam00397
      Location:4778
      WW; WW domain
    11. XM_017024312.1XP_016879801.1  rho GTPase-activating protein 27 isoform X8

    12. XM_017024313.1XP_016879802.1  rho GTPase-activating protein 27 isoform X10

    13. XM_006721750.4XP_006721813.1  rho GTPase-activating protein 27 isoform X11

      See identical proteins and their annotated locations for XP_006721813.1

      Conserved Domains (4) summary
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      cd13233
      Location:499613
      PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
      pfam00169
      Location:499611
      PH; PH domain
      pfam00397
      Location:247278
      WW; WW domain
    14. XM_011524473.2XP_011522775.1  rho GTPase-activating protein 27 isoform X12

      See identical proteins and their annotated locations for XP_011522775.1

      Conserved Domains (3) summary
      cd12069
      Location:1066
      SH3_ARHGAP27; Src Homology 3 domain of Rho GTPase-activating protein 27
      pfam00397
      Location:247278
      WW; WW domain
      cl17171
      Location:499582
      PH-like; Pleckstrin homology-like domain

    RNA

    1. XR_002957982.1 RNA Sequence

    2. XR_934416.2 RNA Sequence

      Related
      ENST00000531735.5
    3. XR_934417.3 RNA Sequence

    4. XR_001752447.1 RNA Sequence

    5. XR_001752448.1 RNA Sequence

    6. XR_429876.3 RNA Sequence

    7. XR_429873.3 RNA Sequence

    8. XR_001752446.1 RNA Sequence

    9. XR_429875.3 RNA Sequence

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      84423..123414 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      84405..123421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001159330.1: Suppressed sequence

      Description
      NM_001159330.1: This RefSeq was temporarily suppressed because currently there is insufficient support for the transcript and the protein.
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