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TBC1D22A TBC1 domain family member 22A [ Homo sapiens (human) ]

Gene ID: 25771, updated on 1-Jun-2020

Summary

Official Symbol
TBC1D22Aprovided by HGNC
Official Full Name
TBC1 domain family member 22Aprovided by HGNC
Primary source
HGNC:HGNC:1309
See related
Ensembl:ENSG00000054611 MIM:616879
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
C22orf4; HSC79E021
Expression
Ubiquitous expression in spleen (RPKM 2.7), lymph node (RPKM 2.5) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D22A in Genome Data Viewer
Location:
22q13.31
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (46762617..47224975)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (47158514..47571342)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373077 Neighboring gene uncharacterized LOC107985566 Neighboring gene ceramide kinase Neighboring gene TBC1D22A antisense RNA 1 Neighboring gene uncharacterized LOC105369161 Neighboring gene uncharacterized LOC100128818 Neighboring gene uncharacterized LOC339685 Neighboring gene long intergenic non-protein coding RNA 1644

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
14-3-3 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
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 

General protein information

Preferred Names
TBC1 domain family member 22A
Names
putative GTPase activator

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_001284303.1NP_001271232.1  TBC1 domain family member 22A isoform b

    See identical proteins and their annotated locations for NP_001271232.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    BC002743, DB339610, FP325331, HY033225
    Consensus CDS
    CCDS63511.1
    UniProtKB/Swiss-Prot
    Q8WUA7
    Related
    ENSP00000347932.3, ENST00000355704.7
    Conserved Domains (1) summary
    smart00164
    Location:141391
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. NM_001284304.1NP_001271233.1  TBC1 domain family member 22A isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an additional exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK308039, AL118516, DB339610, FP325331, HY033225, Z80896
    Consensus CDS
    CCDS74877.1
    UniProtKB/TrEMBL
    A0A0A0MRY0
    Related
    ENSP00000370383.2, ENST00000380995.5
    Conserved Domains (1) summary
    smart00164
    Location:189439
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. NM_001284305.1NP_001271234.1  TBC1 domain family member 22A isoform d

    See identical proteins and their annotated locations for NP_001271234.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK127653, AL118516, DB339610, FP325331
    Consensus CDS
    CCDS63512.1
    UniProtKB/Swiss-Prot
    Q8WUA7
    Related
    ENSP00000385634.1, ENST00000406733.1
    Conserved Domains (1) summary
    smart00164
    Location:172422
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. NM_014346.5NP_055161.1  TBC1 domain family member 22A isoform a

    See identical proteins and their annotated locations for NP_055161.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL023733, AL118516, FP325331, U51561, Z79999, Z80896, Z82187
    Consensus CDS
    CCDS14078.1
    UniProtKB/Swiss-Prot
    Q8WUA7
    Related
    ENSP00000336724.4, ENST00000337137.9
    Conserved Domains (1) summary
    smart00164
    Location:219469
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. NR_104292.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains alternate 5' exon structure, and lacks an internal exon but includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK125705, AL118516, DB339610, FP325331

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    46762617..47224975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028742.2XP_016884231.1  TBC1 domain family member 22A isoform X1

  2. XM_017028745.2XP_016884234.1  TBC1 domain family member 22A isoform X6

    UniProtKB/TrEMBL
    B0QYI1
    Related
    ENSP00000384036.3, ENST00000407381.7
  3. XM_011530099.2XP_011528401.1  TBC1 domain family member 22A isoform X4

    Conserved Domains (1) summary
    smart00164
    Location:219469
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. XM_017028743.2XP_016884232.1  TBC1 domain family member 22A isoform X2

  5. XM_024452198.1XP_024307966.1  TBC1 domain family member 22A isoform X3

    Conserved Domains (1) summary
    smart00164
    Location:219469
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  6. XM_011530100.3XP_011528402.1  TBC1 domain family member 22A isoform X7

    Conserved Domains (1) summary
    smart00164
    Location:219400
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  7. XM_011530102.3XP_011528404.1  TBC1 domain family member 22A isoform X12

    Conserved Domains (1) summary
    smart00164
    Location:219333
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  8. XM_017028746.2XP_016884235.1  TBC1 domain family member 22A isoform X8

  9. XM_011530101.3XP_011528403.1  TBC1 domain family member 22A isoform X9

    Conserved Domains (1) summary
    smart00164
    Location:219372
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  10. XM_017028747.2XP_016884236.1  TBC1 domain family member 22A isoform X11

  11. XM_005261496.2XP_005261553.1  TBC1 domain family member 22A isoform X10

    Related
    ENSP00000406214.1, ENST00000441162.5
    Conserved Domains (1) summary
    smart00164
    Location:219340
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  12. XM_017028744.1XP_016884233.1  TBC1 domain family member 22A isoform X5

    UniProtKB/Swiss-Prot
    Q8WUA7
    Conserved Domains (1) summary
    smart00164
    Location:172422
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. XR_001755202.2 RNA Sequence

  2. XR_001755203.2 RNA Sequence

  3. XR_002958682.1 RNA Sequence

  4. XR_001755206.2 RNA Sequence

  5. XR_244364.3 RNA Sequence

  6. XR_001755204.1 RNA Sequence

  7. XR_001755205.1 RNA Sequence

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