Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Transmembrane anterior posterior transformation protein 1 homolog

Gene

TAPT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity).By similarity1 Publication
(Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169.1 Publication

GO - Molecular functioni

  • growth hormone-releasing hormone receptor activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Receptor

Keywords - Biological processi

Chondrogenesis, Cilium biogenesis/degradation, Differentiation, Osteogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane anterior posterior transformation protein 1 homolog
Alternative name(s):
Cytomegalovirus partial fusion receptor
Gene namesi
Name:TAPT1
Synonyms:CMVFR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:26887. TAPT1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei111 – 131HelicalSequence analysisAdd BLAST21
Transmembranei157 – 179HelicalSequence analysisAdd BLAST23
Transmembranei236 – 256HelicalSequence analysisAdd BLAST21
Transmembranei403 – 423HelicalSequence analysisAdd BLAST21
Transmembranei432 – 452HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
  • integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys.
See also OMIM:616897
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076497353D → V in OCLSBG; causes mislocalization of the protein in the cytoplasm; impairs cilium formation. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi202018.
MIMi616897. phenotype.
OpenTargetsiENSG00000169762.
PharmGKBiPA162405167.

Polymorphism and mutation databases

BioMutaiTAPT1.
DMDMi74737002.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003288722 – 567Transmembrane anterior posterior transformation protein 1 homologAdd BLAST566

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei523PhosphoserineCombined sources1
Modified residuei529PhosphothreonineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ6NXT6.
MaxQBiQ6NXT6.
PaxDbiQ6NXT6.
PeptideAtlasiQ6NXT6.
PRIDEiQ6NXT6.

PTM databases

iPTMnetiQ6NXT6.
PhosphoSitePlusiQ6NXT6.
SwissPalmiQ6NXT6.

Expressioni

Gene expression databases

BgeeiENSG00000169762.
CleanExiHS_TAPT1.
ExpressionAtlasiQ6NXT6. baseline and differential.
GenevisibleiQ6NXT6. HS.

Organism-specific databases

HPAiHPA042567.

Interactioni

Protein-protein interaction databases

BioGridi128412. 6 interactors.
IntActiQ6NXT6. 2 interactors.
STRINGi9606.ENSP00000385347.

Structurei

3D structure databases

ProteinModelPortaliQ6NXT6.
SMRiQ6NXT6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi3 – 39Gly-richAdd BLAST37

Sequence similaritiesi

Belongs to the TAPT1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2490. Eukaryota.
ENOG410XT6F. LUCA.
GeneTreeiENSGT00390000010628.
HOGENOMiHOG000154508.
HOVERGENiHBG108546.
InParanoidiQ6NXT6.
OMAiTCTPGKP.
OrthoDBiEOG091G07IY.
PhylomeDBiQ6NXT6.
TreeFamiTF105962.

Family and domain databases

InterProiIPR008010. Tatp1.
[Graphical view]
PANTHERiPTHR13317. PTHR13317. 1 hit.
PfamiPF05346. DUF747. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6NXT6-1) [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

        10         20         30         40         50
MAGVGDAAAP GEGGGGGVDG PQRDGRGEAE QPGGSGGQGP PPAPQLTETL
60 70 80 90 100
GFYESDRRRE RRRGRTELSL LRFLSAELTR GYFLEHNEAK YTERRERVYT
110 120 130 140 150
CLRIPRELEK LMVFGIFLCL DAFLYVFTLL PLRVFLALFR LLTLPCYGLR
160 170 180 190 200
DRRLLQPAQV CDILKGVILV ICYFMMHYVD YSMMYHLIRG QSVIKLYIIY
210 220 230 240 250
NMLEVADRLF SSFGQDILDA LYWTATEPKE RKRAHIGVIP HFFMAVLYVF
260 270 280 290 300
LHAILIMVQA TTLNVAFNSH NKSLLTIMMS NNFVEIKGSV FKKFEKNNLF
310 320 330 340 350
QMSNSDIKER FTNYVLLLIV CLRNMEQFSW NPDHLWVLFP DVCMVIASEI
360 370 380 390 400
AVDIVKHAFI TKFNDITADV YSEYRASLAF DLVSSRQKNA YTDYSDSVAR
410 420 430 440 450
RMGFIPLPLA VLLIRVVTSS IKVQGILSYA CVILFYFGLI SLKVLNSIVL
460 470 480 490 500
LGKSCQYVKE AKMEEKLSNP PATCTPGKPS SKSQNKCKPS QGLSTEENLS
510 520 530 540 550
ASITKQPIHQ KENIIPLLVT SNSDQFLTTP DGDEKDITQD NSELKHRSSK
560
KDLLEIDRFT ICGNRID
Length:567
Mass (Da):64,260
Last modified:July 5, 2004 - v1
Checksum:i2EAB6EF6A7A40E71
GO
Isoform 2 (identifier: Q6NXT6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     551-567: KDLLEIDRFTICGNRID → SVLLCQSGLPEC

Note: No experimental confirmation available.
Show »
Length:562
Mass (Da):63,487
Checksum:iFA05217C534697E3
GO

Sequence cautioni

The sequence AAF28308 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti30E → D in BAC11022 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076497353D → V in OCLSBG; causes mislocalization of the protein in the cytoplasm; impairs cilium formation. 1 Publication1
Natural variantiVAR_042568465E → K.Corresponds to variant rs35606284dbSNPEnsembl.1
Natural variantiVAR_042569522N → S.Corresponds to variant rs16893137dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_032842551 – 567KDLLE…GNRID → SVLLCQSGLPEC in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074494 mRNA. Translation: BAC11022.1.
CH471069 Genomic DNA. Translation: EAW92754.1.
BC066899 mRNA. Translation: AAH66899.1.
AF189251 mRNA. Translation: AAF28308.1. Frameshift.
CCDSiCCDS47030.1. [Q6NXT6-1]
RefSeqiNP_699196.2. NM_153365.2. [Q6NXT6-1]
UniGeneiHs.479223.

Genome annotation databases

EnsembliENST00000405303; ENSP00000385347; ENSG00000169762. [Q6NXT6-1]
GeneIDi202018.
KEGGihsa:202018.
UCSCiuc010ied.2. human. [Q6NXT6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074494 mRNA. Translation: BAC11022.1.
CH471069 Genomic DNA. Translation: EAW92754.1.
BC066899 mRNA. Translation: AAH66899.1.
AF189251 mRNA. Translation: AAF28308.1. Frameshift.
CCDSiCCDS47030.1. [Q6NXT6-1]
RefSeqiNP_699196.2. NM_153365.2. [Q6NXT6-1]
UniGeneiHs.479223.

3D structure databases

ProteinModelPortaliQ6NXT6.
SMRiQ6NXT6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128412. 6 interactors.
IntActiQ6NXT6. 2 interactors.
STRINGi9606.ENSP00000385347.

PTM databases

iPTMnetiQ6NXT6.
PhosphoSitePlusiQ6NXT6.
SwissPalmiQ6NXT6.

Polymorphism and mutation databases

BioMutaiTAPT1.
DMDMi74737002.

Proteomic databases

EPDiQ6NXT6.
MaxQBiQ6NXT6.
PaxDbiQ6NXT6.
PeptideAtlasiQ6NXT6.
PRIDEiQ6NXT6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000405303; ENSP00000385347; ENSG00000169762. [Q6NXT6-1]
GeneIDi202018.
KEGGihsa:202018.
UCSCiuc010ied.2. human. [Q6NXT6-1]

Organism-specific databases

CTDi202018.
DisGeNETi202018.
GeneCardsiTAPT1.
HGNCiHGNC:26887. TAPT1.
HPAiHPA042567.
MIMi612758. gene.
616897. phenotype.
neXtProtiNX_Q6NXT6.
OpenTargetsiENSG00000169762.
PharmGKBiPA162405167.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2490. Eukaryota.
ENOG410XT6F. LUCA.
GeneTreeiENSGT00390000010628.
HOGENOMiHOG000154508.
HOVERGENiHBG108546.
InParanoidiQ6NXT6.
OMAiTCTPGKP.
OrthoDBiEOG091G07IY.
PhylomeDBiQ6NXT6.
TreeFamiTF105962.

Miscellaneous databases

ChiTaRSiTAPT1. human.
GenomeRNAii202018.
PROiQ6NXT6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169762.
CleanExiHS_TAPT1.
ExpressionAtlasiQ6NXT6. baseline and differential.
GenevisibleiQ6NXT6. HS.

Family and domain databases

InterProiIPR008010. Tatp1.
[Graphical view]
PANTHERiPTHR13317. PTHR13317. 1 hit.
PfamiPF05346. DUF747. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTAPT1_HUMAN
AccessioniPrimary (citable) accession number: Q6NXT6
Secondary accession number(s): Q8N2S3, Q9NZK9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: July 5, 2004
Last modified: November 2, 2016
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 4
    Human chromosome 4: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.