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RHOBTB1 Rho related BTB domain containing 1 [ Homo sapiens (human) ]

Gene ID: 9886, updated on 3-May-2020

Summary

Official Symbol
RHOBTB1provided by HGNC
Official Full Name
Rho related BTB domain containing 1provided by HGNC
Primary source
HGNC:HGNC:18738
See related
Ensembl:ENSG00000072422 MIM:607351
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
Summary
The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Expression
Broad expression in placenta (RPKM 10.3), kidney (RPKM 7.3) and 22 other tissues See more
Orthologs

Genomic context

See RHOBTB1 in Genome Data Viewer
Location:
10q21.2
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (60869438..61001486, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (62629196..62761198, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ANK3 divergent transcript Neighboring gene cyclin dependent kinase 1 Neighboring gene RNA, U2 small nuclear 72, pseudogene Neighboring gene uncharacterized LOC107984236 Neighboring gene long intergenic non-protein coding RNA 845 Neighboring gene uncharacterized LOC105378323

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0740, MGC33059, MGC33841

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
rho-related BTB domain-containing protein 1

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_001242359.2NP_001229288.1  rho-related BTB domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001229288.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same protein.
    Source sequence(s)
    AB018283, BC032848, BU624790, DA830304
    Consensus CDS
    CCDS7261.1
    UniProtKB/Swiss-Prot
    O94844
    UniProtKB/TrEMBL
    A0A024QZL4
    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  2. NM_001350902.2NP_001337831.1  rho-related BTB domain-containing protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB018283, AK075129, BC041791, BQ574439
    Consensus CDS
    CCDS7261.1
    Related
    ENSP00000350595.4, ENST00000357917.4
    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  3. NM_001350903.2NP_001337832.1  rho-related BTB domain-containing protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB018283, AC011197, BE046002, BQ574439, DA859805, DR004641
    Consensus CDS
    CCDS7261.1
    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  4. NM_001350904.2NP_001337833.1  rho-related BTB domain-containing protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB018283, BC032848, BU624790, BX389628, DA830304, DR002604
    Consensus CDS
    CCDS7261.1
    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  5. NM_001350905.2NP_001337834.1  rho-related BTB domain-containing protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB018283, BC032848, BU624790, DA793865, DA830304, DR002604
    Consensus CDS
    CCDS7261.1
    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  6. NM_001350906.2NP_001337835.1  rho-related BTB domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB018283, AC011197, AC027678, BE046002, BQ574439, DA859805, DR004641
    Conserved Domains (3) summary
    smart00225
    Location:276335
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:356461
    BTB; BTB/POZ domain
    cl21455
    Location:187
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  7. NM_001350907.2NP_001337836.1  rho-related BTB domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB018283, AC027678, BQ574439, DA781491, DR004641
    Conserved Domains (3) summary
    smart00225
    Location:276335
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:356461
    BTB; BTB/POZ domain
    cl21455
    Location:187
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  8. NM_001350908.2NP_001337837.1  rho-related BTB domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB018283, AC011197, AC027678, BE046002, BQ574439, DA859805, DR004641
    Conserved Domains (3) summary
    smart00225
    Location:276335
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:356461
    BTB; BTB/POZ domain
    cl21455
    Location:187
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  9. NM_001350909.2NP_001337838.1  rho-related BTB domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB018283, AC027678, AI935070, BC032848, BQ574439, DA930841, DR004641
    Conserved Domains (3) summary
    smart00225
    Location:276335
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:356461
    BTB; BTB/POZ domain
    cl21455
    Location:187
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  10. NM_001350910.2NP_001337839.1  rho-related BTB domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB018283, BC032848, BQ574439, DA930841, DR002604, DR004641
    Conserved Domains (3) summary
    smart00225
    Location:276335
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:356461
    BTB; BTB/POZ domain
    cl21455
    Location:187
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  11. NM_001350911.2NP_001337840.1  rho-related BTB domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB018283, AC027678, BQ574439, DA793865, DA930841, DR004641
    Conserved Domains (3) summary
    smart00225
    Location:276335
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:356461
    BTB; BTB/POZ domain
    cl21455
    Location:187
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  12. NM_014836.5NP_055651.1  rho-related BTB domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_055651.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform. Variants 1-6 encode the same protein (isoform 1).
    Source sequence(s)
    AB018283, BC041791, BQ574439, DB453441
    Consensus CDS
    CCDS7261.1
    UniProtKB/Swiss-Prot
    O94844
    UniProtKB/TrEMBL
    A0A024QZL4
    Related
    ENSP00000338671.5, ENST00000337910.10
    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    60869438..61001486 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448271.1XP_024304039.1  rho-related BTB domain-containing protein 1 isoform X1

    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  2. XM_024448270.1XP_024304038.1  rho-related BTB domain-containing protein 1 isoform X1

    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  3. XM_011540425.1XP_011538727.1  rho-related BTB domain-containing protein 1 isoform X2

    Conserved Domains (5) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00174
    Location:17208
    RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
    smart00225
    Location:486583
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476578
    BTB; BTB/POZ domain
    cl02518
    Location:406453
    BTB; BTB/POZ domain
  4. XM_011540424.1XP_011538726.1  rho-related BTB domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011538726.1

    UniProtKB/Swiss-Prot
    O94844
    UniProtKB/TrEMBL
    A0A024QZL4
    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  5. XM_006718085.1XP_006718148.1  rho-related BTB domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006718148.1

    UniProtKB/Swiss-Prot
    O94844
    UniProtKB/TrEMBL
    A0A024QZL4
    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  6. XM_024448272.1XP_024304040.1  rho-related BTB domain-containing protein 1 isoform X1

    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  7. XM_017017002.2XP_016872491.1  rho-related BTB domain-containing protein 1 isoform X2

    Conserved Domains (5) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00174
    Location:17208
    RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
    smart00225
    Location:486583
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476578
    BTB; BTB/POZ domain
    cl02518
    Location:406453
    BTB; BTB/POZ domain
  8. XM_017017000.2XP_016872489.1  rho-related BTB domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O94844
    UniProtKB/TrEMBL
    A0A024QZL4
    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  9. XM_024448273.1XP_024304041.1  rho-related BTB domain-containing protein 1 isoform X1

    Conserved Domains (3) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476581
    BTB; BTB/POZ domain
  10. XM_011540426.1XP_011538728.1  rho-related BTB domain-containing protein 1 isoform X3

    Conserved Domains (5) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00174
    Location:17208
    RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
    smart00225
    Location:486578
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:476574
    BTB; BTB/POZ domain
    cl02518
    Location:406453
    BTB; BTB/POZ domain
  11. XM_011540428.1XP_011538730.1  rho-related BTB domain-containing protein 1 isoform X4

    Conserved Domains (4) summary
    cd01873
    Location:13207
    RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
    smart00174
    Location:17208
    RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
    smart00225
    Location:396455
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cl02518
    Location:406453
    BTB; BTB/POZ domain

RNA

  1. XR_001747268.1 RNA Sequence

  2. XR_945895.1 RNA Sequence

  3. XR_945894.2 RNA Sequence

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