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O96005 (CLPT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cleft lip and palate transmembrane protein 1
Gene names
Name:CLPTM1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length669 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in T-cell development By similarity.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Widely expressed. Ref.1

Polymorphism

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 similarities

Belongs to the CLPTM1 family.

Sequence caution

The sequence AAH04865.1 differs from that shown. Reason: Aberrant splicing.

The sequence AAP35926.1 differs from that shown. Reason: Aberrant splicing.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Unc93b1Q8VCW42EBI-2873194,EBI-6116986From a different organism.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.9
Chain2 – 669668Cleft lip and palate transmembrane protein 1
PRO_0000245096

Regions

Topological domain2 – 354353Extracellular Potential
Transmembrane355 – 37521Helical; Potential
Topological domain376 – 39015Cytoplasmic Potential
Transmembrane391 – 41121Helical; Potential
Topological domain412 – 4165Extracellular Potential
Transmembrane417 – 43721Helical; Potential
Topological domain438 – 47740Cytoplasmic Potential
Transmembrane478 – 49821Helical; Potential
Topological domain499 – 5024Extracellular Potential
Transmembrane503 – 52321Helical; Potential
Topological domain524 – 669146Cytoplasmic Potential

Amino acid modifications

Modified residue21N-acetylalanine Ref.9
Glycosylation281N-linked (GlcNAc...) Potential
Glycosylation1191N-linked (GlcNAc...) Potential
Glycosylation1611N-linked (GlcNAc...) Potential
Glycosylation2411N-linked (GlcNAc...) Potential
Glycosylation2951N-linked (GlcNAc...) Ref.6 Ref.7
Glycosylation4131N-linked (GlcNAc...) Potential

Experimental info

Sequence conflict6371A → T in BAD97273. Ref.2

Sequences

Sequence LengthMass (Da)Tools
O96005 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 769AB9D291917339

FASTA66976,097
        10         20         30         40         50         60 
MAAAQEADGA RSAVVAAGGG SSGQVTSNGS IGRDPPAETQ PQNPPAQPAP NAWQVIKGVL 

        70         80         90        100        110        120 
FRIFIIWAIS SWFRRGPAPQ DQAGPGGAPR VASRNLFPKD TLMNLHVYIS EHEHFTDFNA 

       130        140        150        160        170        180 
TSALFWEQHD LVYGDWTSGE NSDGCYEHFA ELDIPQSVQQ NGSIYIHVYF TKSGFHPDPR 

       190        200        210        220        230        240 
QKALYRRLAT VHMSRMINKY KRRRFQKTKN LLTGETEADP EMIKRAEDYG PVEVISHWHP 

       250        260        270        280        290        300 
NITINIVDDH TPWVKGSVPP PLDQYVKFDA VSGDYYPIIY FNDYWNLQKD YYPINESLAS 

       310        320        330        340        350        360 
LPLRVSFCPL SLWRWQLYAA QSTKSPWNFL GDELYEQSDE EQDSVKVALL ETNPYLLALT 

       370        380        390        400        410        420 
IIVSIVHSVF EFLAFKNDIQ FWNSRQSLEG LSVRSVFFGV FQSFVVLLYI LDNETNFVVQ 

       430        440        450        460        470        480 
VSVFIGVLID LWKITKVMDV RLDREHRVAG IFPRLSFKDK STYIESSTKV YDDMAFRYLS 

       490        500        510        520        530        540 
WILFPLLGCY AVYSLLYLEH KGWYSWVLSM LYGFLLTFGF ITMTPQLFIN YKLKSVAHLP 

       550        560        570        580        590        600 
WRMLTYKALN TFIDDLFAFV IKMPVMYRIG CLRDDVVFFI YLYQRWIYRV DPTRVNEFGM 

       610        620        630        640        650        660 
SGEDPTAAAP VAEVPTAAGA LTPTPAPTTT TATREEASTS LPTKPTQGAS SASEPQEAPP 


KPAEDKKKD 

« Hide

References

« Hide 'large scale' references
[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."
Yoshiura K., Machida J., Daack-Hirsch S., Patil S.R., Ashworth L.K., Hecht J.T., Murray J.C.
Genomics 54:231-240(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], CHROMOSOMAL TRANSLOCATION, TISSUE SPECIFICITY.
Tissue: Craniofacial.
[2]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Kidney.
[3]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Choriocarcinoma and Melanoma.
[5]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-656.
[6]"Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach."
Lewandrowski U., Moebius J., Walter U., Sickmann A.
Mol. Cell. Proteomics 5:226-233(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-295.
Tissue: Platelet.
[7]"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-295.
Tissue: Liver.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF037338 Genomic DNA. Translation: AAC97420.1.
AF037339 mRNA. Translation: AAC98151.1.
AK223553 mRNA. Translation: BAD97273.1.
AC011481 Genomic DNA. No translation available.
BC004865 mRNA. Translation: AAH04865.1. Sequence problems.
BC012359 mRNA. Translation: AAH12359.1.
BT007262 mRNA. Translation: AAP35926.1. Sequence problems.
RefSeqNP_001269104.1. NM_001282175.1.
NP_001269105.1. NM_001282176.1.
NP_001285.1. NM_001294.3.
UniGeneHs.444441.

3D structure databases

ProteinModelPortalO96005.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107619. 3 interactions.
IntActO96005. 5 interactions.
MINTMINT-3061031.
STRING9606.ENSP00000336994.

PTM databases

PhosphoSiteO96005.

Proteomic databases

PaxDbO96005.
PRIDEO96005.

Protocols and materials databases

DNASU1209.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337392; ENSP00000336994; ENSG00000104853.
GeneID1209.
KEGGhsa:1209.
UCSCuc002pai.3. human.

Organism-specific databases

CTD1209.
GeneCardsGC19P045458.
H-InvDBHIX0015219.
HGNCHGNC:2087. CLPTM1.
MIM604783. gene.
neXtProtNX_O96005.
PharmGKBPA26613.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287859.
HOGENOMHOG000201405.
HOVERGENHBG057146.
OMAHRVAGIF.
PhylomeDBO96005.
TreeFamTF318501.

Gene expression databases

ArrayExpressO96005.
BgeeO96005.
CleanExHS_CLPTM1.
GenevestigatorO96005.

Family and domain databases

InterProIPR008429. CLPTM1.
[Graphical view]
PANTHERPTHR21347. PTHR21347. 1 hit.
PfamPF05602. CLPTM1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCLPTM1. human.
GeneWikiCleft_lip_and_palate_transmembrane_protein_1.
GenomeRNAi1209.
NextBio4981.
PROO96005.
SOURCESearch...

Entry information

Entry nameCLPT1_HUMAN
AccessionPrimary (citable) accession number: O96005
Secondary accession number(s): Q53ET6, Q9BSS5
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: May 1, 1999
Last modified: April 16, 2014
This is version 93 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM