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

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: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (28724024..28727930, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (27051366..27053950, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

inhibition of FLD-1 or TLCD1/2 prevents lipotoxicity by allowing increased levels of membrane phospholipids that contain fluidizing long-chain polyunsaturated fatty acids.
Title: Membrane fluidity is regulated by the <i>C. elegans</i> transmembrane protein FLD-1 and its human homologs TLCD1/2.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78645 (e-PCR)
- UniSTS:92741

G28287 (e-PCR)
- UniSTS:63651

SHGC-56895 (e-PCR)
- UniSTS:45297

Homology

Homologs of the TLCD1 gene: The TLCD1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 405 organisms have orthologs with human gene TLCD1
Orthologs

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 lipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in membrane assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in membrane assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in phospholipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane lipid distribution	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of membrane lipid distribution	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in integral component of membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: TLC domain-containing protein 1

Names: calfacilitin

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)

NM_001160407.2 → NP_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)

AC010761, BC014072, BF478215, BX106421

Consensus CDS

CCDS54102.1

UniProtKB/Swiss-Prot

Q96CP7

Related

ENSP00000378391.3, ENST00000394933.7

Conserved Domains (1) summary

smart00724
Location:20 → 187

TLC; TRAM, LAG1 and CLN8 homology domains
NM_138463.4 → NP_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:41 → 234

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

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

28724024..28727930 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000466264.1, ENST00000580518.1

Conserved Domains (1) summary

smart00724
Location:7 → 163

TLC; TRAM, LAG1 and CLN8 homology domains
XM_011524278.3 → XP_011522580.1 TLC domain-containing protein 1 isoform X1

Conserved Domains (1) summary

smart00724
Location:41 → 183

TLC; TRAM, LAG1 and CLN8 homology domains