Aliases for TCTEX1D1 Gene

Aliases for TCTEX1D1 Gene

  • Tctex1 Domain Containing 1 2 3 5
  • Tctex1 Domain-Containing Protein 1 3 4

External Ids for TCTEX1D1 Gene

Previous GeneCards Identifiers for TCTEX1D1 Gene

  • GC01P066931
  • GC01P067218
  • GC01P065328

Summaries for TCTEX1D1 Gene

GeneCards Summary for TCTEX1D1 Gene

TCTEX1D1 (Tctex1 Domain Containing 1) is a Protein Coding gene. Diseases associated with TCTEX1D1 include Retinitis Pigmentosa 3. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. An important paralog of this gene is TCTEX1D4.

Additional gene information for TCTEX1D1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCTEX1D1 Gene

Genomics for TCTEX1D1 Gene

GeneHancer (GH) Regulatory Elements for TCTEX1D1 Gene

Promoters and enhancers for TCTEX1D1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J066751 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 523.1 0.0 -36 2 TEAD4 CTCF POLR2A PHF8 NR2F2 RAD21 GATA2 ZBTB33 HNF4A SUZ12 TCTEX1D1 HSALNG0004234
GH01J066727 Enhancer 1.1 FANTOM5 Ensembl ENCODE 34.7 -21.5 -21456 8 CTCF JUND MCM3 ZNF316 MAFF FOS TCF12 JUN NFE2 MAFK TCTEX1D1 MIER1 SERBP1 ENSG00000248458 SGIP1 PDE4B HSALNG0004234
GH01J066532 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15 -218.0 -217956 5 EP300 USF1 PHB2 FOS ZIC2 SAP30 CTBP1 ATF2 HDAC2 MXI1 SGIP1 NONHSAG001742.2 TCTEX1D1 lnc-INSL5-3
GH01J066561 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 20.4 -188.5 -188533 4.6 FOS REST POLR2A EP300 TEAD1 TBX3 FOXA2 CEBPB FOSL1 JUND lnc-INSL5-3 SGIP1 TCTEX1D1 ENSG00000248458 PDE4B NONHSAG001742.2
GH01J066923 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 +173.0 172967 4.4 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC POLR2G SP1 NCOR1 WDR78 MIER1 TCTEX1D1 SERBP1 SLC35D1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCTEX1D1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCTEX1D1

Top Transcription factor binding sites by QIAGEN in the TCTEX1D1 gene promoter:
  • AML1a
  • FOXJ2
  • FOXJ2 (long isoform)
  • HSF1 (long)
  • HSF1short
  • HSF2
  • LCR-F1
  • NRSF form 1
  • NRSF form 2
  • Sox5

Genomic Locations for TCTEX1D1 Gene

Genomic Locations for TCTEX1D1 Gene
chr1:66,752,457-66,779,047
(GRCh38/hg38)
Size:
26,591 bases
Orientation:
Plus strand
chr1:67,218,140-67,244,730
(GRCh37/hg19)
Size:
26,591 bases
Orientation:
Plus strand

Genomic View for TCTEX1D1 Gene

Genes around TCTEX1D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCTEX1D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCTEX1D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCTEX1D1 Gene

Proteins for TCTEX1D1 Gene

  • Protein details for TCTEX1D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7M0-TC1D1_HUMAN
    Recommended name:
    Tctex1 domain-containing protein 1
    Protein Accession:
    Q8N7M0
    Secondary Accessions:
    • Q06YR9
    • Q5VYE1

    Protein attributes for TCTEX1D1 Gene

    Size:
    179 amino acids
    Molecular mass:
    20730 Da
    Quaternary structure:
    • Interacts with ZMYND10.

    Alternative splice isoforms for TCTEX1D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCTEX1D1 Gene

Post-translational modifications for TCTEX1D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCTEX1D1 Gene

No data available for DME Specific Peptides for TCTEX1D1 Gene

Domains & Families for TCTEX1D1 Gene

Gene Families for TCTEX1D1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TCTEX1D1 Gene

Blocks:
  • Tctex-1 family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TCTEX1D1 Gene

GenScript: Design optimal peptide antigens:
  • Tctex1 domain containing 1, isoform CRA_a (D3DQ68_HUMAN)
  • Tctex1 domain-containing protein 1 (TC1D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N7M0

UniProtKB/Swiss-Prot:

TC1D1_HUMAN :
  • Belongs to the dynein light chain Tctex-type family.
Family:
  • Belongs to the dynein light chain Tctex-type family.
genes like me logo Genes that share domains with TCTEX1D1: view

Function for TCTEX1D1 Gene

Phenotypes From GWAS Catalog for TCTEX1D1 Gene

Gene Ontology (GO) - Molecular Function for TCTEX1D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TCTEX1D1: view
genes like me logo Genes that share phenotypes with TCTEX1D1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TCTEX1D1 Gene

Localization for TCTEX1D1 Gene

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 TCTEX1D1 gene
Compartment Confidence
cytoskeleton 1
nucleus 1
cytosol 1
extracellular 0
mitochondrion 0
peroxisome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for TCTEX1D1 Gene

Pathways & Interactions for TCTEX1D1 Gene

genes like me logo Genes that share pathways with TCTEX1D1: view

Pathways by source for TCTEX1D1 Gene

;

Gene Ontology (GO) - Biological Process for TCTEX1D1 Gene

None

No data available for SIGNOR curated interactions for TCTEX1D1 Gene

Drugs & Compounds for TCTEX1D1 Gene

No Compound Related Data Available

Transcripts for TCTEX1D1 Gene

mRNA/cDNA for TCTEX1D1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCTEX1D1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c
SP1: - - - - -
SP2:
SP3: - -
SP4: - - - - - -
SP5:

Relevant External Links for TCTEX1D1 Gene

GeneLoc Exon Structure for
TCTEX1D1

Expression for TCTEX1D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TCTEX1D1 Gene

mRNA differential expression in normal tissues according to GTEx for TCTEX1D1 Gene

This gene is overexpressed in Brain - Hypothalamus (x5.5) and Brain - Caudate (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for TCTEX1D1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TCTEX1D1 Gene



Protein tissue co-expression partners for TCTEX1D1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCTEX1D1

SOURCE GeneReport for Unigene cluster for TCTEX1D1 Gene:

Hs.479226
genes like me logo Genes that share expression patterns with TCTEX1D1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCTEX1D1 Gene

Orthologs for TCTEX1D1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCTEX1D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCTEX1D1 31 30
  • 98.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TCTEX1D1 31 30
  • 87.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TCTEX1D1 31 30
  • 85.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tctex1d1 17 31 30
  • 81.53 (n)
rat
(Rattus norvegicus)
Mammalia Tctex1d1 30
  • 80.58 (n)
oppossum
(Monodelphis domestica)
Mammalia TCTEX1D1 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCTEX1D1 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCTEX1D1 31
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCTEX1D1 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tctex1d1 30
  • 71.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10706 30
zebrafish
(Danio rerio)
Actinopterygii tctex1d1 31 30
  • 66.28 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7276 31
  • 23 (a)
ManyToMany
CG5359 31
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dylt-2 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for TCTEX1D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TCTEX1D1 Gene

ENSEMBL:
Gene Tree for TCTEX1D1 (if available)
TreeFam:
Gene Tree for TCTEX1D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCTEX1D1: view image

Paralogs for TCTEX1D1 Gene

Paralogs for TCTEX1D1 Gene

(1) SIMAP similar genes for TCTEX1D1 Gene using alignment to 3 proteins:

  • TC1D1_HUMAN
  • D3DQ68_HUMAN
  • E9PI84_HUMAN
genes like me logo Genes that share paralogs with TCTEX1D1: view

Variants for TCTEX1D1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCTEX1D1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1060575 - p.Glu49Asp
rs2133173 - p.Leu143Ile

Additional dbSNP identifiers (rs#s) for TCTEX1D1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TCTEX1D1 Gene

Variant ID Type Subtype PubMed ID
esv1009176 CNV deletion 20482838
esv3893623 CNV gain 25118596
nsv830093 CNV gain 17160897

Variation tolerance for TCTEX1D1 Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.27; 90.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCTEX1D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCTEX1D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCTEX1D1 Gene

Disorders for TCTEX1D1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TCTEX1D1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 3
  • rp3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TCTEX1D1

genes like me logo Genes that share disorders with TCTEX1D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TCTEX1D1 Gene

Publications for TCTEX1D1 Gene

  1. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. (PMID: 29601588) Cho KJ … Gee HY (PLoS genetics 2018) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 54
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 54

Products for TCTEX1D1 Gene

Sources for TCTEX1D1 Gene