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O96005

- CLPT1_HUMAN

UniProt

O96005 - CLPT1_HUMAN

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Protein
Cleft lip and palate transmembrane protein 1
Gene
CLPTM1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. protein binding Source: IntAct

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. multicellular organismal development Source: ProtInc
  3. regulation of T cell differentiation in thymus Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation

Names & Taxonomyi

Protein namesi
Recommended name:
Cleft lip and palate transmembrane protein 1
Gene namesi
Name:CLPTM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:2087. CLPTM1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 354353Extracellular Reviewed prediction
Add
BLAST
Transmembranei355 – 37521Helical; Reviewed prediction
Add
BLAST
Topological domaini376 – 39015Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei391 – 41121Helical; Reviewed prediction
Add
BLAST
Topological domaini412 – 4165Extracellular Reviewed prediction
Transmembranei417 – 43721Helical; Reviewed prediction
Add
BLAST
Topological domaini438 – 47740Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei478 – 49821Helical; Reviewed prediction
Add
BLAST
Topological domaini499 – 5024Extracellular Reviewed prediction
Transmembranei503 – 52321Helical; Reviewed prediction
Add
BLAST
Topological domaini524 – 669146Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. external side of plasma membrane Source: BHF-UCL
  2. integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26613.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 669668Cleft lip and palate transmembrane protein 1
PRO_0000245096Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Glycosylationi28 – 281N-linked (GlcNAc...) Reviewed prediction
Glycosylationi119 – 1191N-linked (GlcNAc...) Reviewed prediction
Glycosylationi161 – 1611N-linked (GlcNAc...) Reviewed prediction
Glycosylationi241 – 2411N-linked (GlcNAc...) Reviewed prediction
Glycosylationi295 – 2951N-linked (GlcNAc...)2 Publications
Glycosylationi413 – 4131N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

MaxQBiO96005.
PaxDbiO96005.
PRIDEiO96005.

PTM databases

PhosphoSiteiO96005.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

ArrayExpressiO96005.
BgeeiO96005.
CleanExiHS_CLPTM1.
GenevestigatoriO96005.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
Unc93b1Q8VCW42EBI-2873194,EBI-6116986From a different organism.

Protein-protein interaction databases

BioGridi107619. 3 interactions.
IntActiO96005. 5 interactions.
MINTiMINT-3061031.
STRINGi9606.ENSP00000336994.

Structurei

3D structure databases

ProteinModelPortaliO96005.

Family & Domainsi

Sequence similaritiesi

Belongs to the CLPTM1 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG287859.
HOGENOMiHOG000201405.
HOVERGENiHBG057146.
OMAiTRMESFF.
PhylomeDBiO96005.
TreeFamiTF318501.

Family and domain databases

InterProiIPR008429. CLPTM1.
[Graphical view]
PANTHERiPTHR21347. PTHR21347. 1 hit.
PfamiPF05602. CLPTM1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O96005-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MAAAQEADGA RSAVVAAGGG SSGQVTSNGS IGRDPPAETQ PQNPPAQPAP    50
NAWQVIKGVL FRIFIIWAIS SWFRRGPAPQ DQAGPGGAPR VASRNLFPKD 100
TLMNLHVYIS EHEHFTDFNA TSALFWEQHD LVYGDWTSGE NSDGCYEHFA 150
ELDIPQSVQQ NGSIYIHVYF TKSGFHPDPR QKALYRRLAT VHMSRMINKY 200
KRRRFQKTKN LLTGETEADP EMIKRAEDYG PVEVISHWHP NITINIVDDH 250
TPWVKGSVPP PLDQYVKFDA VSGDYYPIIY FNDYWNLQKD YYPINESLAS 300
LPLRVSFCPL SLWRWQLYAA QSTKSPWNFL GDELYEQSDE EQDSVKVALL 350
ETNPYLLALT IIVSIVHSVF EFLAFKNDIQ FWNSRQSLEG LSVRSVFFGV 400
FQSFVVLLYI LDNETNFVVQ VSVFIGVLID LWKITKVMDV RLDREHRVAG 450
IFPRLSFKDK STYIESSTKV YDDMAFRYLS WILFPLLGCY AVYSLLYLEH 500
KGWYSWVLSM LYGFLLTFGF ITMTPQLFIN YKLKSVAHLP WRMLTYKALN 550
TFIDDLFAFV IKMPVMYRIG CLRDDVVFFI YLYQRWIYRV DPTRVNEFGM 600
SGEDPTAAAP VAEVPTAAGA LTPTPAPTTT TATREEASTS LPTKPTQGAS 650
SASEPQEAPP KPAEDKKKD 669
Length:669
Mass (Da):76,097
Last modified:May 1, 1999 - v1
Checksum:i769AB9D291917339
GO
Isoform 2 (identifier: O96005-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.

Note: No experimental confirmation available.

Show »
Length:567
Mass (Da):65,597
Checksum:iE951ABBC450F0AF9
GO
Isoform 3 (identifier: O96005-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MAAAQEADGARSAVVAAGGGSSGQ → MSRKAHITEK

Note: No experimental confirmation available.

Show »
Length:655
Mass (Da):75,178
Checksum:i255557255AB11179
GO

Sequence cautioni

The sequence AAH04865.1 differs from that shown. Reason: Aberrant splicing.
The sequence AAP35926.1 differs from that shown. Reason: Aberrant splicing.

Polymorphismi

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).

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti478 – 4781Y → C.
Corresponds to variant rs140564801 [ dbSNP | Ensembl ].
VAR_071064

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 102102Missing in isoform 2.
VSP_055525Add
BLAST
Alternative sequencei1 – 2424MAAAQ…GSSGQ → MSRKAHITEK in isoform 3.
VSP_055526Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti103 – 1031M → V in BAG65291. 1 Publication
Sequence conflicti175 – 1751F → S in BAG65291. 1 Publication
Sequence conflicti327 – 3271W → R in BAH14465. 1 Publication
Sequence conflicti494 – 4941S → G in BAG52034. 1 Publication
Sequence conflicti637 – 6371A → T in BAD97273. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF037338 Genomic DNA. Translation: AAC97420.1.
AF037339 mRNA. Translation: AAC98151.1.
AK293314 mRNA. Translation: BAG56834.1.
AK304480 mRNA. Translation: BAG65291.1.
AK316094 mRNA. Translation: BAH14465.1.
AK074935 mRNA. Translation: BAG52034.1.
AK223553 mRNA. Translation: BAD97273.1.
AC011481 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW57314.1.
BC004865 mRNA. Translation: AAH04865.1. Sequence problems.
BC012359 mRNA. Translation: AAH12359.1.
BT007262 mRNA. Translation: AAP35926.1. Sequence problems.
CCDSiCCDS12651.1.
RefSeqiNP_001269104.1. NM_001282175.1.
NP_001269105.1. NM_001282176.1.
NP_001285.1. NM_001294.3.
UniGeneiHs.444441.

Genome annotation databases

EnsembliENST00000337392; ENSP00000336994; ENSG00000104853.
ENST00000541297; ENSP00000442011; ENSG00000104853.
ENST00000546079; ENSP00000443192; ENSG00000104853.
GeneIDi1209.
KEGGihsa:1209.
UCSCiuc002pai.3. human.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF037338 Genomic DNA. Translation: AAC97420.1 .
AF037339 mRNA. Translation: AAC98151.1 .
AK293314 mRNA. Translation: BAG56834.1 .
AK304480 mRNA. Translation: BAG65291.1 .
AK316094 mRNA. Translation: BAH14465.1 .
AK074935 mRNA. Translation: BAG52034.1 .
AK223553 mRNA. Translation: BAD97273.1 .
AC011481 Genomic DNA. No translation available.
CH471126 Genomic DNA. Translation: EAW57314.1 .
BC004865 mRNA. Translation: AAH04865.1 . Sequence problems.
BC012359 mRNA. Translation: AAH12359.1 .
BT007262 mRNA. Translation: AAP35926.1 . Sequence problems.
CCDSi CCDS12651.1.
RefSeqi NP_001269104.1. NM_001282175.1.
NP_001269105.1. NM_001282176.1.
NP_001285.1. NM_001294.3.
UniGenei Hs.444441.

3D structure databases

ProteinModelPortali O96005.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107619. 3 interactions.
IntActi O96005. 5 interactions.
MINTi MINT-3061031.
STRINGi 9606.ENSP00000336994.

PTM databases

PhosphoSitei O96005.

Proteomic databases

MaxQBi O96005.
PaxDbi O96005.
PRIDEi O96005.

Protocols and materials databases

DNASUi 1209.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000337392 ; ENSP00000336994 ; ENSG00000104853 .
ENST00000541297 ; ENSP00000442011 ; ENSG00000104853 .
ENST00000546079 ; ENSP00000443192 ; ENSG00000104853 .
GeneIDi 1209.
KEGGi hsa:1209.
UCSCi uc002pai.3. human.

Organism-specific databases

CTDi 1209.
GeneCardsi GC19P045458.
H-InvDB HIX0015219.
HGNCi HGNC:2087. CLPTM1.
MIMi 604783. gene.
neXtProti NX_O96005.
PharmGKBi PA26613.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG287859.
HOGENOMi HOG000201405.
HOVERGENi HBG057146.
OMAi TRMESFF.
PhylomeDBi O96005.
TreeFami TF318501.

Miscellaneous databases

ChiTaRSi CLPTM1. human.
GeneWikii Cleft_lip_and_palate_transmembrane_protein_1.
GenomeRNAii 1209.
NextBioi 4981.
PROi O96005.
SOURCEi Search...

Gene expression databases

ArrayExpressi O96005.
Bgeei O96005.
CleanExi HS_CLPTM1.
Genevestigatori O96005.

Family and domain databases

InterProi IPR008429. CLPTM1.
[Graphical view ]
PANTHERi PTHR21347. PTHR21347. 1 hit.
Pfami PF05602. CLPTM1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION, TISSUE SPECIFICITY.
    Tissue: Craniofacial.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT CYS-478.
    Tissue: Thalamus and Uterus.
  3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. 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] (ISOFORM 1).
    Tissue: Kidney.
  5. "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.
    , 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].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 1).
    Tissue: Choriocarcinoma and Melanoma.
  8. "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 (ISOFORM 1).
  9. "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.
  10. "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.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiCLPT1_HUMAN
AccessioniPrimary (citable) accession number: O96005
Secondary accession number(s): B3KQH2
, B4DDS3, B4E2X9, B7Z9X9, F5H8J3, Q53ET6, Q9BSS5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: May 1, 1999
Last modified: September 3, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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