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TLCD1 TLC domain containing 1 [ Homo sapiens (human) ]

Gene ID: 116238, updated on 13-Mar-2020

Summary

Official Symbol
TLCD1provided by HGNC
Official Full Name
TLC domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25177
See related
Ensembl:ENSG00000160606
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
Expression
Ubiquitous expression in ovary (RPKM 8.5), lymph node (RPKM 6.1) and 25 other tissues See more
Orthologs

Genomic context

See TLCD1 in Genome Data Viewer
Location:
17q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (28724024..28727930, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27051366..27053949, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a Neighboring gene small nucleolar RNA, C/D box 42A Neighboring gene small nucleolar RNA, C/D box 4B Neighboring gene NIMA related kinase 8 Neighboring gene Sharpr-MPRA regulatory region 11843 Neighboring gene TNF receptor associated factor 4

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
membrane assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
plasma membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane lipid distribution IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
TLC domain-containing protein 1
Names
calfacilitin

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_001160407.1NP_001153879.1  TLC domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001153879.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    BC014072, BF478215, BX106421
    Consensus CDS
    CCDS54102.1
    UniProtKB/Swiss-Prot
    Q96CP7
    Related
    ENSP00000378391.3, ENST00000394933.7
    Conserved Domains (1) summary
    smart00724
    Location:20187
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. NM_138463.4NP_612472.1  TLC domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_612472.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC010761, BC014072, BF478215, CA453962
    Consensus CDS
    CCDS11242.1
    UniProtKB/Swiss-Prot
    Q96CP7
    Related
    ENSP00000292090.3, ENST00000292090.8
    Conserved Domains (1) summary
    smart00724
    Location:41234
    TLC; TRAM, LAG1 and CLN8 homology domains

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    28724024..28727930 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721671.4XP_006721734.1  TLC domain-containing protein 1 isoform X2

    Related
    ENSP00000466264.1, ENST00000580518.1
    Conserved Domains (1) summary
    smart00724
    Location:7163
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. XM_011524278.3XP_011522580.1  TLC domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    smart00724
    Location:41183
    TLC; TRAM, LAG1 and CLN8 homology domains
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