Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CLPTM1 Gene

Aliases for CLPTM1 Gene

  • Cleft Lip And Palate Associated Transmembrane Protein 1 2 3 5

External Ids for CLPTM1 Gene

Previous GeneCards Identifiers for CLPTM1 Gene

  • GC19P046103
  • GC19P045849
  • GC19P050134
  • GC19P050150
  • GC19P045458
  • GC19P041889

Summaries for CLPTM1 Gene

GeneCards Summary for CLPTM1 Gene

CLPTM1 (Cleft Lip And Palate Associated Transmembrane Protein 1) is a Protein Coding gene. Diseases associated with CLPTM1 include Cleft Lip. An important paralog of this gene is CLPTM1L.

UniProtKB/Swiss-Prot for CLPTM1 Gene

  • May play a role in T-cell development.

Gene Wiki entry for CLPTM1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLPTM1 Gene

Genomics for CLPTM1 Gene

Regulatory Elements for CLPTM1 Gene

Enhancers for CLPTM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CLPTM1 on UCSC Golden Path with GeneCards custom track

Promoters for CLPTM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLPTM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CLPTM1 Gene

Chromosome:
19
Start:
44,954,585 bp from pter
End:
44,993,346 bp from pter
Size:
38,762 bases
Orientation:
Plus strand

Genomic View for CLPTM1 Gene

Genes around CLPTM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLPTM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLPTM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLPTM1 Gene

Proteins for CLPTM1 Gene

  • Protein details for CLPTM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96005-CLPT1_HUMAN
    Recommended name:
    Cleft lip and palate transmembrane protein 1
    Protein Accession:
    O96005
    Secondary Accessions:
    • B3KQH2
    • B4DDS3
    • B4E2X9
    • B7Z9X9
    • F5H8J3
    • Q53ET6
    • Q9BSS5

    Protein attributes for CLPTM1 Gene

    Size:
    669 amino acids
    Molecular mass:
    76097 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH04865.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=AAP35926.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for CLPTM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLPTM1 Gene

Proteomics data for CLPTM1 Gene at MOPED

Post-translational modifications for CLPTM1 Gene

  • Ubiquitination at Lys 209, Lys 224, and Lys 534
  • Glycosylation at Asn 28, Asn 119, Asn 161, Asn 241, Asn 295, and Asn 413
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CLPTM1 Gene

Domains & Families for CLPTM1 Gene

Protein Domains for CLPTM1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O96005

UniProtKB/Swiss-Prot:

CLPT1_HUMAN :
  • Belongs to the CLPTM1 family.
Family:
  • Belongs to the CLPTM1 family.
genes like me logo Genes that share domains with CLPTM1: view

No data available for Gene Families for CLPTM1 Gene

Function for CLPTM1 Gene

Molecular function for CLPTM1 Gene

GENATLAS Biochemistry:
putative transmembrane protein,strongly homolog to C elegans R166.2,disrupted by a balanced translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate
UniProtKB/Swiss-Prot Function:
May play a role in T-cell development.
genes like me logo Genes that share phenotypes with CLPTM1: view

Animal Model Products

miRNA for CLPTM1 Gene

miRTarBase miRNAs that target CLPTM1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CLPTM1 Gene

Localization for CLPTM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLPTM1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLPTM1 Gene COMPARTMENTS Subcellular localization image for CLPTM1 gene
Compartment Confidence
plasma membrane 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for CLPTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLPTM1: view

Pathways & Interactions for CLPTM1 Gene

SuperPathways for CLPTM1 Gene

No Data Available

Interacting Proteins for CLPTM1 Gene

Gene Ontology (GO) - Biological Process for CLPTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033081 regulation of T cell differentiation in thymus IEA,ISS --
genes like me logo Genes that share ontologies with CLPTM1: view

No data available for Pathways by source and SIGNOR curated interactions for CLPTM1 Gene

Drugs & Compounds for CLPTM1 Gene

No Compound Related Data Available

Transcripts for CLPTM1 Gene

Unigene Clusters for CLPTM1 Gene

Cleft lip and palate associated transmembrane protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLPTM1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ·
SP1: - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - -
SP5: - - - - - - - - - - - - - - - - - - -
SP6: -
SP7:
SP8: -
SP9:

ExUns: 17d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CLPTM1 Gene

GeneLoc Exon Structure for
CLPTM1
ECgene alternative splicing isoforms for
CLPTM1

Expression for CLPTM1 Gene

mRNA expression in normal human tissues for CLPTM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CLPTM1 Gene

This gene is overexpressed in Nasal epithelium (56.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CLPTM1 Gene



SOURCE GeneReport for Unigene cluster for CLPTM1 Gene Hs.444441

mRNA Expression by UniProt/SwissProt for CLPTM1 Gene

O96005-CLPT1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with CLPTM1: view

Protein tissue co-expression partners for CLPTM1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for CLPTM1 Gene

Orthologs for CLPTM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLPTM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLPTM1 35
  • 92.63 (n)
  • 95.81 (a)
CLPTM1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLPTM1 35
  • 91.58 (n)
  • 95.67 (a)
CLPTM1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clptm1 35
  • 88.81 (n)
  • 95.48 (a)
Clptm1 16
Clptm1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLPTM1 35
  • 99.6 (n)
  • 99.85 (a)
CLPTM1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clptm1 35
  • 88.15 (n)
  • 95.33 (a)
oppossum
(Monodelphis domestica)
Mammalia CLPTM1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLPTM1 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLPTM1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clptm1 35
  • 71.82 (n)
  • 81.85 (a)
Str.753 35
zebrafish
(Danio rerio)
Actinopterygii clptm1 35
  • 74.51 (n)
  • 79.61 (a)
sbcb102 35
clptm1 36
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6632 35
fruit fly
(Drosophila melanogaster)
Insecta CG3702 37
  • 54 (a)
CG3702 35
  • 59.63 (n)
  • 53.68 (a)
CG3702 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007926 35
  • 59.74 (n)
  • 55.12 (a)
worm
(Caenorhabditis elegans)
Secernentea C36B7.6 37
  • 53 (a)
R166.2 37
  • 49 (a)
C36B7.6 35
  • 56.19 (n)
  • 54.94 (a)
C36B7.6 36
  • 50 (a)
OneToMany
R166.2 36
  • 47 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G23575 35
  • 51.96 (n)
  • 46.17 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.6282 35
rice
(Oryza sativa)
Liliopsida Os.18612 35
Os04g0441900 35
  • 52.05 (n)
  • 43.49 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.770 35
corn
(Zea mays)
Liliopsida Zm.3148 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3480 35
Species with no ortholog for CLPTM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • 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)

Evolution for CLPTM1 Gene

ENSEMBL:
Gene Tree for CLPTM1 (if available)
TreeFam:
Gene Tree for CLPTM1 (if available)

Paralogs for CLPTM1 Gene

Paralogs for CLPTM1 Gene

(1) SIMAP similar genes for CLPTM1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CLPTM1: view

Variants for CLPTM1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CLPTM1 Gene

CLPT1_HUMAN-O96005
A chromosomal translocation involving CLPTM1 is found in a family with cleft lip and palate. However, no etiologic link with the disease is characterized. Translocation t(2;19)(q11.2;q13.3).

Sequence variations from dbSNP and Humsavar for CLPTM1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs140564801 - 44,991,251(+) CCGGT(A/G)CCTGT reference, missense
rs760114 -- 44,961,706(+) CCCAC(C/T)GGGCT intron-variant
rs7257610 -- 44,987,170(+) CCCAC(A/G)TGCTG intron-variant
rs7257916 -- 44,979,627(+) AAAAG(C/T)TGACT intron-variant
rs7259679 -- 44,954,049(+) GAGTA(C/T)GATTA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CLPTM1 Gene

Variant ID Type Subtype PubMed ID
nsv912133 CNV Loss 21882294
nsv912134 CNV Loss 21882294
esv2656681 CNV Deletion 23128226
esv22789 CNV Loss 19812545
esv32608 CNV Loss 17666407
dgv14e24 CNV Loss 17666407
nsv912141 CNV Loss 21882294
nsv828562 CNV Gain 20364138

Variation tolerance for CLPTM1 Gene

Residual Variation Intolerance Score: 38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLPTM1 Gene

Human Gene Mutation Database (HGMD)
CLPTM1

Disorders for CLPTM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CLPTM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cleft lip
  • cheiloschisis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CLPTM1

Genetic Association Database (GAD)
CLPTM1
Human Genome Epidemiology (HuGE) Navigator
CLPTM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLPTM1
genes like me logo Genes that share disorders with CLPTM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLPTM1 Gene

Publications for CLPTM1 Gene

  1. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. (PMID: 9828125) Yoshiura K. … Murray J.C. (Genomics 1998) 2 3 4 67
  2. Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis. (PMID: 16102578) Rossi M.R. … Ionov Y. (Cancer Genet. Cytogenet. 2005) 3 23
  3. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3
  4. Genetic loci associated with circulating levels of very long-chain saturated fatty acids. (PMID: 25378659) Lemaitre R.N. … Friedlander Y. (J. Lipid Res. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for CLPTM1 Gene

Sources for CLPTM1 Gene

Content