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TLCD3A TLC domain containing 3A [ Homo sapiens (human) ]

Gene ID: 79850, updated on 23-Nov-2021

Summary

Official Symbol
TLCD3Aprovided by HGNC
Official Full Name
TLC domain containing 3Aprovided by HGNC
Primary source
HGNC:HGNC:29646
See related
Ensembl:ENSG00000167695 MIM:611627
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
CT120; FAM57A
Summary
The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Expression
Broad expression in skin (RPKM 26.1), esophagus (RPKM 9.7) and 18 other tissues See more
Orthologs
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Genomic context

See TLCD3A in Genome Data Viewer
Location:
17p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (732596..742968)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (635836..646208)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene VPS53 subunit of GARP complex Neighboring gene ribosomal protein S4X pseudogene 17 Neighboring gene Sharpr-MPRA regulatory region 11717 Neighboring gene gem nuclear organelle associated protein 4 Neighboring gene diazepam binding inhibitor-like 5, pseudogene Neighboring gene glyoxalase domain containing 4 Neighboring gene mitochondrial rRNA methyltransferase 3

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

Phenotypes

Associated conditions

Description Tests
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22282

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
TLC domain-containing protein 3A
Names
family with sequence similarity 57 member A
membrane protein expressed in epithelial-like lung adenocarcinoma
protein FAM57A

NCBI Reference Sequences (RefSeq)

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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_001318006.2NP_001304935.1  TLC domain-containing protein 3A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as CT120B) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AA055841, AC087392, BC026023
    Consensus CDS
    CCDS82031.1
    UniProtKB/Swiss-Prot
    Q8TBR7
    Related
    ENSP00000301324.8, ENST00000301324.8
    Conserved Domains (1) summary
    smart00724
    Location:33217
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. NM_001318007.2NP_001304936.1  TLC domain-containing protein 3A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA055841, AC087392, AK025935, BX389422, CN259418
    UniProtKB/Swiss-Prot
    Q8TBR7
  3. NM_001318008.2NP_001304937.1  TLC domain-containing protein 3A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA055841, AC087392, AK025935, CN259418
    Consensus CDS
    CCDS82032.1
    UniProtKB/Swiss-Prot
    Q8TBR7
    UniProtKB/TrEMBL
    I3L336
    Related
    ENSP00000460150.1, ENST00000572018.5
  4. NM_024792.3NP_079068.1  TLC domain-containing protein 3A isoform 1

    See identical proteins and their annotated locations for NP_079068.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as CT120A) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA055841, AC087392, AK025935, CN259418
    Consensus CDS
    CCDS10996.1
    UniProtKB/Swiss-Prot
    Q8TBR7
    Related
    ENSP00000312017.7, ENST00000308278.13
    Conserved Domains (1) summary
    smart00724
    Location:33249
    TLC; TRAM, LAG1 and CLN8 homology domains

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
    732596..742968
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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