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Aliases for TLCD1 Gene

Aliases for TLCD1 Gene

  • TLC Domain Containing 1 2 3 5
  • TLC Domain-Containing Protein 1 3 4
  • Calfacilitin 2 3

External Ids for TLCD1 Gene

Previous GeneCards Identifiers for TLCD1 Gene

  • GC17M024076
  • GC17M027052
  • GC17M023260
  • GC17M027053
  • GC17M027140

Summaries for TLCD1 Gene

GeneCards Summary for TLCD1 Gene

TLCD1 (TLC Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is TLCD2.

UniProtKB/Swiss-Prot for TLCD1 Gene

  • Calcium channel facilitator that increases calcium flux by generating a larger window current and slowing inactivation of the L-type CACNA1C/CaV1.2 channel. Regulation of intracellular calcium by Calfacilitin is required for neural plate formation (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLCD1 Gene

Genomics for TLCD1 Gene

Regulatory Elements for TLCD1 Gene

Enhancers for TLCD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G028863 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -137.4 -137402 3.3 HDGF CREB3L1 ARNT ARID4B ZNF766 CBX5 FOS KLF13 JUNB REST DHRS13 PROCA1 FLOT2 NEK8 TLCD1 SNORD42A SNORD4B SNORD42B RAB34 RPL23A
GH17G028760 1.5 Ensembl ENCODE dbSUPER 12.2 -33.3 -33337 2.2 CREB3L1 ARNT SIN3A YBX1 ETS1 ZNF766 ELK1 KLF13 ZNF592 MEF2D TRAF4 TLCD1 SNORD4B SNORD42A NEK8 ERAL1 FAM222B SNORD4A RPL23A SNORD42B
GH17G028807 1.6 FANTOM5 ENCODE dbSUPER 11 -82.5 -82505 6.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A FEZF1 DMAP1 ZNF2 YY1 TRAF4 ENSG00000264577 ENSG00000265205 NUFIP2 ENSG00000265908 FAM222B ERAL1 FLOT2 DHRS13 LOC101927018
GH17G028660 1.4 ENCODE dbSUPER 10.6 +65.5 65510 3.5 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PROCA1 SNORD4B SNORD42A SGK494 SPAG5-AS1 NEK8 TLCD1 SPAG5 SDF2 ENSG00000265205
GH17G028764 1.1 ENCODE dbSUPER 12.2 -36.0 -35983 0.2 HDAC1 HDGF ATF1 NFIB WRNIP1 ARID4B BMI1 ZNF2 RAD21 RFX5 ENSG00000264577 NEK8 TLCD1 SNORD42A SNORD4B NUFIP2 FAM222B ERAL1 RPL23A SNORD42B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TLCD1 on UCSC Golden Path with GeneCards custom track

Promoters for TLCD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092758 435 3401 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for TLCD1 Gene

Chromosome:
17
Start:
28,724,348 bp from pter
End:
28,727,935 bp from pter
Size:
3,588 bases
Orientation:
Minus strand

Genomic View for TLCD1 Gene

Genes around TLCD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLCD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLCD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLCD1 Gene

Proteins for TLCD1 Gene

  • Protein details for TLCD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CP7-TLCD1_HUMAN
    Recommended name:
    Calfacilitin
    Protein Accession:
    Q96CP7
    Secondary Accessions:
    • A8MYP9

    Protein attributes for TLCD1 Gene

    Size:
    247 amino acids
    Molecular mass:
    28548 Da
    Quaternary structure:
    • Interacts with CACNA1C.

    Alternative splice isoforms for TLCD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLCD1 Gene

Post-translational modifications for TLCD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TLCD1 Gene

No data available for DME Specific Peptides for TLCD1 Gene

Domains & Families for TLCD1 Gene

Gene Families for TLCD1 Gene

Protein Domains for TLCD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TLCD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TLCD1: view

No data available for UniProtKB/Swiss-Prot for TLCD1 Gene

Function for TLCD1 Gene

Molecular function for TLCD1 Gene

UniProtKB/Swiss-Prot Function:
Calcium channel facilitator that increases calcium flux by generating a larger window current and slowing inactivation of the L-type CACNA1C/CaV1.2 channel. Regulation of intracellular calcium by Calfacilitin is required for neural plate formation (By similarity).

Phenotypes for TLCD1 Gene

genes like me logo Genes that share phenotypes with TLCD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TLCD1 Gene

Localization for TLCD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLCD1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLCD1 gene
Compartment Confidence
plasma membrane 4
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TLCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TLCD1: view

Pathways & Interactions for TLCD1 Gene

SuperPathways for TLCD1 Gene

No Data Available

Interacting Proteins for TLCD1 Gene

Gene Ontology (GO) - Biological Process for TLCD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TLCD1 Gene

Drugs & Compounds for TLCD1 Gene

No Compound Related Data Available

Transcripts for TLCD1 Gene

Unigene Clusters for TLCD1 Gene

TLC domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TLCD1 Gene

No ASD Table

Relevant External Links for TLCD1 Gene

GeneLoc Exon Structure for
TLCD1
ECgene alternative splicing isoforms for
TLCD1

Expression for TLCD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TLCD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TLCD1 Gene

This gene is overexpressed in Heart (31.3) and Breast (24.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TLCD1 Gene



Protein tissue co-expression partners for TLCD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TLCD1 Gene:

TLCD1

SOURCE GeneReport for Unigene cluster for TLCD1 Gene:

Hs.499952
genes like me logo Genes that share expression patterns with TLCD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLCD1 Gene

Orthologs for TLCD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TLCD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLCD1 34 35
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia TLCD1 34 35
  • 87.61 (n)
cow
(Bos Taurus)
Mammalia TLCD1 34 35
  • 87.46 (n)
mouse
(Mus musculus)
Mammalia Tlcd1 34 16 35
  • 84.76 (n)
rat
(Rattus norvegicus)
Mammalia Tlcd1 34
  • 84.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TLCD1 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TLCD1 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TLCD1 34 35
  • 64.25 (n)
zebrafish
(Danio rerio)
Actinopterygii tlcd1 34 35
  • 51.39 (n)
worm
(Caenorhabditis elegans)
Secernentea Y48G8AL.13 35
  • 18 (a)
ManyToMany
Y63D3A.8 35
  • 18 (a)
ManyToMany
K12H6.6 35
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
OneToMany
Species where no ortholog for TLCD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TLCD1 Gene

ENSEMBL:
Gene Tree for TLCD1 (if available)
TreeFam:
Gene Tree for TLCD1 (if available)

Paralogs for TLCD1 Gene

Paralogs for TLCD1 Gene

(1) SIMAP similar genes for TLCD1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TLCD1: view

Variants for TLCD1 Gene

Sequence variations from dbSNP and Humsavar for TLCD1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs786204782 Uncertain significance 28,728,861(+) TTCGG(-/G)TGAGC intron-variant, upstream-variant-2KB, splice-donor-variant
rs1000340537 -- 28,723,984(+) ACACA(C/G)ACACT intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1001389577 -- 28,729,145(+) GCTGG(A/G)TATAT intron-variant, upstream-variant-2KB
rs1001630399 -- 28,726,155(+) GAACC(C/G)GGATC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001666210 -- 28,724,805(+) TGAGG(A/G)AGATG downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TLCD1 Gene

Variant ID Type Subtype PubMed ID
nsv1064087 CNV gain 25217958

Variation tolerance for TLCD1 Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TLCD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLCD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLCD1 Gene

Disorders for TLCD1 Gene

Relevant External Links for TLCD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TLCD1

No disorders were found for TLCD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TLCD1 Gene

Publications for TLCD1 Gene

  1. Calfacilitin is a calcium channel modulator essential for initiation of neural plate development. (PMID: 23673622) Papanayotou C. … Stern C.D. (Nat Commun 2013) 2 3 64
  2. TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains? (PMID: 12151215) Winter E. … Ponting C.P. (Trends Biochem. Sci. 2002) 2 3 64
  3. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for TLCD1 Gene

Sources for TLCD1 Gene

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