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Aliases for TMCO1 Gene

Aliases for TMCO1 Gene

  • Transmembrane And Coiled-Coil Domains 1 2 3
  • Transmembrane And Coiled-Coil Domains 4 2 3
  • Xenogeneic Cross-Immune Protein PCIA3 3 4
  • TMCC4 3 4
  • Transmembrane And Coiled-Coil Domain-Containing Protein 1 3
  • Transmembrane And Coiled-Coil Domains Protein 4 4
  • Putative Membrane Protein 3
  • PNAS-136 3
  • HP10122 3
  • PCIA3 3
  • CFSMR 6

External Ids for TMCO1 Gene

Previous HGNC Symbols for TMCO1 Gene

  • TMCC4

Previous GeneCards Identifiers for TMCO1 Gene

  • GC01M162429
  • GC01M163962
  • GC01M136941

Summaries for TMCO1 Gene

Entrez Gene Summary for TMCO1 Gene

  • This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

GeneCards Summary for TMCO1 Gene

TMCO1 (Transmembrane And Coiled-Coil Domains 1) is a Protein Coding gene. Diseases associated with TMCO1 include craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome and open-angle glaucoma.

Gene Wiki entry for TMCO1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMCO1 Gene

Genomics for TMCO1 Gene

Regulatory Elements for TMCO1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TMCO1 Gene

Start:
165,724,291 bp from pter
End:
165,827,755 bp from pter
Size:
103,465 bases
Orientation:
Minus strand

Genomic View for TMCO1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMCO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMCO1 Gene

Proteins for TMCO1 Gene

  • Protein details for TMCO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM00-TMCO1_HUMAN
    Recommended name:
    Transmembrane and coiled-coil domain-containing protein 1
    Protein Accession:
    Q9UM00
    Secondary Accessions:
    • B2REA0
    • O75545
    • Q9BZS3
    • Q9BZU8

    Protein attributes for TMCO1 Gene

    Size:
    188 amino acids
    Molecular mass:
    21175 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC25388.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAK07514.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAK07549.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for TMCO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMCO1 Gene

Proteomics data for TMCO1 Gene at MOPED

Post-translational modifications for TMCO1 Gene

  • Ubiquitination at Lys116 and Lys186
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMCO1 Gene

Domains for TMCO1 Gene

Protein Domains for TMCO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMCO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UM00

UniProtKB/Swiss-Prot:

TMCO1_HUMAN :
  • Q9UM00
Family:
  • Belongs to the TMCO1 family.
genes like me logo Genes that share domains with TMCO1: view

No data available for Gene Families for TMCO1 Gene

Function for TMCO1 Gene

Animal Model Products

CRISPR Products

miRNA for TMCO1 Gene

miRTarBase miRNAs that target TMCO1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for TMCO1 Gene

Localization for TMCO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMCO1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMCO1 Gene COMPARTMENTS Subcellular localization image for TMCO1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
extracellular 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for TMCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with TMCO1: view

Pathways for TMCO1 Gene

SuperPathways for TMCO1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMCO1 Gene

None

No data available for Pathways by source for TMCO1 Gene

Transcripts for TMCO1 Gene

mRNA/cDNA for TMCO1 Gene

(3) REFSEQ mRNAs :
(4) Selected AceView cDNA sequences:
(11) Additional mRNA sequences :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMCO1 Gene

Transmembrane and coiled-coil domains 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMCO1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMCO1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d
SP1: - -
SP2: - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: -

Relevant External Links for TMCO1 Gene

GeneLoc Exon Structure for
TMCO1
ECgene alternative splicing isoforms for
TMCO1

Expression for TMCO1 Gene

mRNA expression in normal human tissues for TMCO1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMCO1 Gene

SOURCE GeneReport for Unigene cluster for TMCO1 Gene Hs.31498

mRNA Expression by UniProt/SwissProt for TMCO1 Gene

Q9UM00-TMCO1_HUMAN
Tissue specificity: Widely expressed in adult and fetal tissues, with higher levels in thymus, prostate, testis and small intestine and lower levels in brain, placenta, lung and kidney.
genes like me logo Genes that share expressions with TMCO1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TMCO1 Gene

Orthologs for TMCO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMCO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMCO1 35
  • 99.72 (n)
  • 99.16 (a)
TMCO1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMCO1 35
  • 93.62 (n)
  • 100 (a)
TMCO1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC478992 35
  • 87.76 (n)
  • 92.37 (a)
TMCO1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmco1 35
  • 90.6 (n)
  • 100 (a)
Tmco1 16
Tmco1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMCO1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMCO1 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmco1 35
  • 91.13 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves TMCO1 35
  • 83.87 (n)
  • 96.81 (a)
TMCO1 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMCO1 36
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25231 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6955 35
tmco1 35
  • 78.72 (n)
  • 94.15 (a)
zebrafish
(Danio rerio)
Actinopterygii sbcb729 35
tmco1 35
  • 76.6 (n)
  • 95.21 (a)
tmco1 36
  • 95 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009081 35
  • 69.85 (n)
  • 78.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10470 35
  • 65.93 (n)
  • 75.82 (a)
CG10470 36
  • 75 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F22B5.10 35
  • 61.99 (n)
  • 64.04 (a)
F22B5.10 36
  • 61 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G06660 35
  • 53.37 (n)
  • 48.88 (a)
rice
(Oryza sativa)
Liliopsida Os03g0721400 35
  • 49.72 (n)
  • 44.13 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3701 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5121 36
  • 69 (a)
OneToOne
Species with no ortholog for TMCO1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMCO1 Gene

ENSEMBL:
Gene Tree for TMCO1 (if available)
TreeFam:
Gene Tree for TMCO1 (if available)

Paralogs for TMCO1 Gene

Selected SIMAP similar genes for TMCO1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with TMCO1: view

No data available for Paralogs for TMCO1 Gene

Variants for TMCO1 Gene

Sequence variations from dbSNP and Humsavar for TMCO1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs14223 -- 165,724,626(+) ctagt(G/T)attct utr-variant-3-prime, nc-transcript-variant
rs1063701 -- 165,727,540(-) ATGTA(A/C)AAGGA utr-variant-3-prime, nc-transcript-variant
rs1063702 -- 165,727,537(-) TACAA(A/G)GAGAG utr-variant-3-prime, nc-transcript-variant
rs1913845 -- 165,726,342(+) GACTA(C/T)TTTGT utr-variant-3-prime, nc-transcript-variant
rs1913846 -- 165,726,489(+) AGGCT(C/T)TACAC utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for TMCO1 Gene

Variant ID Type Subtype PubMed ID
nsv518886 CNV Gain 19592680
esv2520993 CNV Deletion 19546169
esv2177447 CNV Deletion 18987734
esv2719106 CNV Deletion 23290073
esv5064 CNV Deletion 18987735
esv6923 CNV Loss 19470904
nsv159176 CNV Loss 16902084

Relevant External Links for TMCO1 Gene

HapMap Linkage Disequilibrium report
TMCO1
Human Gene Mutation Database (HGMD)
TMCO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMCO1 Gene

Disorders for TMCO1 Gene

(1) OMIM Diseases for TMCO1 Gene (614123)

UniProtKB/Swiss-Prot

TMCO1_HUMAN
  • Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome (CFSMR) [MIM:213980]: A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies. {ECO:0000269 PubMed:20018682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMCO1

Genetic Association Database (GAD)
TMCO1
Human Genome Epidemiology (HuGE) Navigator
TMCO1
genes like me logo Genes that share disorders with TMCO1: view

Publications for TMCO1 Gene

  1. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret G.B. … Chakravarti A. (Eur. J. Hum. Genet. 2009) 3 48
  2. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. (PMID: 20018682) Xin B. … Wang H. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  4. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3
  5. Multi-ubiquitination of a nascent membrane protein produced in a rabbit reticulocyte lysate. (PMID: 10393320) Iwamuro S. … Kato S. (J. Biochem. 1999) 3 4

Products for TMCO1 Gene

Sources for TMCO1 Gene

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