Gene: Clptm1

Basic information

Tag Content
Uniprot ID Q8VBZ3; O08708; Q3U758; Q3U823; Q3UG77; Q8VEJ6;
Entrez ID 56457
Genbank protein ID BAE28332.1; BAE31196.1; AAH18389.1; BAE31514.1; BAA19836.1; AAH22172.1;
Genbank nucleotide ID NM_019649.2
Ensembl protein ID ENSMUSP00000051293
Ensembl nucleotide ID ENSMUSG00000002981
Gene name Cleft lip and palate transmembrane protein 1 homolog
Gene symbol Clptm1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description May play a role in T-cell development.
Sequence
MAAAQEADGA GSAVVAAGGG SSGQVTSNGS IGRDTPAETQ PQNPPPQPAP NAWQVIKGVL 60
FRIFIIWAIS SWFRRGPSPQ DQSGPGGAPR VASRNLFPKD TLMNLHVYIS EHEHFTDFNA 120
TSALFWEQHD LVYGDWTSGE NSDGCYEHFA ELDIPQSVQQ NGSIYIHVYF TKSGFHPDPR 180
QKALYRRLAT VHMSRMINKY KRRRFQKTKN LLTGETEADP EMIKRAEDYG PVEVISHWHP 240
NITINIVDDH TPWVKGSVPP PLDQYVKFDA VSGDYYPIIY FNDYWNLQKD YYPINESLAS 300
LPLRVSFCPL SLWRWQLYAA QSTKSPWNFL GDELYEQSDE EQDSVKVALL ETSPYLLALT 360
IIVSIVHSVF EFLAFKNDIQ FWNSRQSLEG LSVRSVFFGV FQSFVVLLYI LDNETNFVVQ 420
VSVFIGVLID LWKITKVMDV RLDREHRVAG IFPCPTFKDK STYIESSTKV YDDMAFRYLS 480
WILFPLLGCY AVYSLLYLEH KGWYSWVLSM LYGFLLTFGF ITMTPQLFIN YKLKSVAHLP 540
WRMLTYKALN TFIDDLFAFV IKMPVMYRIG CLRDDVVFFI YLYQRWIYRV DPTRVNEFGM 600
SGEDVSAAAS RAQASTAAGA LTPAPSTAVS GEDASTVPKA TSGACTASQP QEAPPKPAED 660
KKKD 664

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCLPTM1A0A452DSC6Capra hircusPredictionMore>>
1:1 orthologCLPTM11209O96005Homo sapiensPublicationMore>>
1:1 orthologClptm156457Q8VBZ3Mus musculusPredictionMore>>
1:1 orthologCLPTM1A0A2I3TN30Pan troglodytesPredictionMore>>
1:1 orthologCLPTM1F1RM47Sus scrofaPredictionMore>>
1:1 orthologCLPTM1G1T1T8Oryctolagus cuniculusPredictionMore>>
1:1 orthologClptm1292696B2RYF6Rattus norvegicusPredictionMore>>
1:1 orthologclptm1795480F1R5K1Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
CLPTM1IVS7-10G>A; PCR and direct sequencing16122939
CLPTM1p.Gly331Gly; PCR and direct sequencing16122939
CLPTM1p.Ala88Ala; PCR and direct sequencing16122939
CLPTM1p.Pro309ProPCR and direct sequencing16122939

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003674 molecular_functionND

GO:Biological Process

GO ID GO Term Evidence
GO:0007275 multicellular organism developmentIEA
GO:0030154 cell differentiationIEA
GO:0033081 regulation of T cell differentiation in thymusIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0009897 external side of plasma membraneIDA
GO:0016021 integral component of membraneIEA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0217 Developmental protein
KW-0221 Differentiation
KW-0325 Glycoprotein
KW-0472 Membrane
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR008429 CLPTM1

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF05602 CLPTM1

Protein-protein interaction

Protein-miRNA interaction