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TBC1D9B TBC1 domain family member 9B [ Homo sapiens (human) ]

Gene ID: 23061, updated on 2-Oct-2018

Summary

Official Symbol
TBC1D9Bprovided by HGNC
Official Full Name
TBC1 domain family member 9Bprovided by HGNC
Primary source
HGNC:HGNC:29097
See related
Ensembl:ENSG00000197226 MIM:618039; Vega:OTTHUMG00000130911
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
GRAMD9B
Expression
Ubiquitous expression in fat (RPKM 32.0), thyroid (RPKM 25.0) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D9B in Genome Data Viewer
Location:
5q35.3
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (179862071..179907856, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179289071..179334879, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 150 Neighboring gene uncharacterized LOC100996419 Neighboring gene MRN complex interacting protein Neighboring gene ring finger protein 130 Neighboring gene dnaJ homolog subfamily B member 6-like Neighboring gene ribosomal protein S15a pseudogene 18

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 Jun 15 11:32:44 2016

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41880, KIAA0676, MGC157757

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
TBC1 domain family member 9B
Names
TBC1 domain family, member 9B (with GRAM domain)

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_015043.4NP_055858.2  TBC1 domain family member 9B isoform b

    See identical proteins and their annotated locations for NP_055858.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC008393, AC010285
    Consensus CDS
    CCDS4450.1
    UniProtKB/Swiss-Prot
    Q66K14
    UniProtKB/TrEMBL
    B3KM54
    Related
    ENSP00000347375.3, OTTHUMP00000161518, ENST00000355235.7
    Conserved Domains (4) summary
    smart00164
    Location:505715
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13354
    Location:299394
    PH-GRAM2_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13351
    Location:153251
    PH-GRAM1_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
    cl08302
    Location:855906
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
  2. NM_198868.3NP_942568.2  TBC1 domain family member 9B isoform a

    See identical proteins and their annotated locations for NP_942568.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC008393, AC010285
    Consensus CDS
    CCDS43408.1
    UniProtKB/Swiss-Prot
    Q66K14
    UniProtKB/TrEMBL
    B3KM54, Q9BW24
    Related
    ENSP00000349291.3, OTTHUMP00000161517, ENST00000356834.7
    Conserved Domains (4) summary
    smart00164
    Location:505715
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13354
    Location:299394
    PH-GRAM2_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13351
    Location:153251
    PH-GRAM1_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
    cl08302
    Location:855906
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    179862071..179907856 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_016107298.1 Reference GRCh38.p12 PATCHES

    Range
    627631..670372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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