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Protein

Proline-rich transmembrane protein 1

Gene

PRRT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-31816-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Proline-rich transmembrane protein 1
Alternative name(s):
Dispanin subfamily D member 1
Short name:
DSPD1
Gene namesi
Name:PRRT1
Synonyms:C6orf31, NG5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:13943. PRRT1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 223ExtracellularSequence analysisAdd BLAST223
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Topological domaini245 – 275CytoplasmicSequence analysisAdd BLAST31
Transmembranei276 – 296HelicalSequence analysisAdd BLAST21
Topological domaini297 – 306ExtracellularSequence analysis10

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi80863.
OpenTargetsiENSG00000204314.
ENSG00000206331.
ENSG00000225141.
ENSG00000227122.
ENSG00000229071.
ENSG00000229488.
ENSG00000235956.
ENSG00000238056.
PharmGKBiPA25932.

Polymorphism and mutation databases

BioMutaiPRRT1.
DMDMi23821870.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001356971 – 306Proline-rich transmembrane protein 1Add BLAST306

Proteomic databases

PaxDbiQ99946.
PeptideAtlasiQ99946.
PRIDEiQ99946.

PTM databases

PhosphoSitePlusiQ99946.

Expressioni

Gene expression databases

BgeeiENSG00000204314.
CleanExiHS_PRRT1.
ExpressionAtlasiQ99946. baseline and differential.
GenevisibleiQ99946. HS.

Organism-specific databases

HPAiHPA055149.

Interactioni

Subunit structurei

Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000211413.

Structurei

3D structure databases

ProteinModelPortaliQ99946.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi41 – 49Poly-His9
Compositional biasi121 – 127Poly-Pro7
Compositional biasi128 – 131Poly-Ala4
Compositional biasi132 – 137Poly-Pro6
Compositional biasi203 – 206Poly-Pro4

Sequence similaritiesi

Belongs to the CD225/Dispanin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IY74. Eukaryota.
ENOG410XVDW. LUCA.
GeneTreeiENSGT00510000049684.
HOVERGENiHBG079594.
InParanoidiQ99946.
OMAiVPTHTGA.
OrthoDBiEOG091G0HYD.
PhylomeDBiQ99946.
TreeFamiTF331357.

Family and domain databases

InterProiIPR007593. CD225/Dispanin_fam.
[Graphical view]
PfamiPF04505. CD225. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q99946-1) [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
MSSEKSGLPD SVPHTSPPPY NAPQPPAEPP APPPQAAPSS HHHHHHHYHQ
60 70 80 90 100
SGTATLPRLG AGGLASSAAT AQRGPSSSAT LPRPPHHAPP GPAAGAPPPG
110 120 130 140 150
CATLPRMPPD PYLQETRFEG PLPPPPPAAA APPPPAPAQT AQAPGFVVPT
160 170 180 190 200
HAGTVGTLPL GGYVAPGYPL QLQPCTAYVP VYPVGTPYAG GTPGGTGVTS
210 220 230 240 250
TLPPPPQGPG LALLEPRRPP HDYMPIAVLT TICCFWPTGI IAIFKAVQVR
260 270 280 290 300
TALARGDMVS AEIASREARN FSFISLAVGI AAMVLCTILT VVIIIAAQHH

ENYWDP
Length:306
Mass (Da):31,430
Last modified:October 10, 2002 - v2
Checksum:i4D3037FAF8EA516A
GO
Isoform 2 (identifier: Q99946-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: MSSEKSGLPD...LPRMPPDPYL → MPGTQTPAPAEDPHSGCRDPVPARPQACHPKS

Note: No experimental confirmation available.
Show »
Length:225
Mass (Da):23,349
Checksum:iF70FEE9D8C9CA675
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti20Y → F in BAB70821 (PubMed:14702039).Curated1
Sequence conflicti47H → Y in BAB70821 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03621294A → T in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0038081 – 113MSSEK…PDPYL → MPGTQTPAPAEDPHSGCRDP VPARPQACHPKS in isoform 2. 1 PublicationAdd BLAST113

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054885 mRNA. Translation: BAB70821.1.
U89336 Genomic DNA. Translation: AAB47496.1.
AL662828 Genomic DNA. Translation: CAI17421.2.
AL662828 Genomic DNA. Translation: CAI17422.2.
AL662884 Genomic DNA. Translation: CAI18339.2.
AL662884 Genomic DNA. Translation: CAI18341.2.
AL845464 Genomic DNA. Translation: CAI41794.2.
AL845464 Genomic DNA. Translation: CAI41796.2.
BX284686 Genomic DNA. Translation: CAM26210.1.
BX284686 Genomic DNA. Translation: CAM26211.1.
BX927239 Genomic DNA. Translation: CAQ06582.1.
BX927239 Genomic DNA. Translation: CAQ06583.1.
CR753803 Genomic DNA. Translation: CAQ09555.1.
CR753803 Genomic DNA. Translation: CAQ09556.1.
CR933878 Genomic DNA. Translation: CAQ09611.1.
CR933878 Genomic DNA. Translation: CAQ09612.1.
CR812478 Genomic DNA. Translation: CAQ10686.1.
CR812478 Genomic DNA. Translation: CAQ10687.1.
CH471081 Genomic DNA. Translation: EAX03589.1.
BC013201 mRNA. Translation: AAH13201.1.
BC063046 mRNA. Translation: AAH63046.1.
CCDSiCCDS4739.1. [Q99946-1]
RefSeqiNP_085154.3. NM_030651.3. [Q99946-1]
UniGeneiHs.549204.
Hs.699821.

Genome annotation databases

EnsembliENST00000211413; ENSP00000211413; ENSG00000204314. [Q99946-1]
ENST00000375150; ENSP00000364292; ENSG00000204314. [Q99946-2]
ENST00000383309; ENSP00000372799; ENSG00000206331. [Q99946-2]
ENST00000414687; ENSP00000414711; ENSG00000235956. [Q99946-1]
ENST00000418753; ENSP00000411544; ENSG00000225141. [Q99946-2]
ENST00000419655; ENSP00000396427; ENSG00000229071. [Q99946-1]
ENST00000423671; ENSP00000411183; ENSG00000229071. [Q99946-2]
ENST00000425739; ENSP00000416064; ENSG00000229488. [Q99946-2]
ENST00000441129; ENSP00000411596; ENSG00000227122. [Q99946-2]
ENST00000444466; ENSP00000405389; ENSG00000225141. [Q99946-1]
ENST00000445122; ENSP00000396426; ENSG00000238056. [Q99946-2]
ENST00000451329; ENSP00000398756; ENSG00000238056. [Q99946-1]
ENST00000452030; ENSP00000394808; ENSG00000235956. [Q99946-2]
ENST00000454112; ENSP00000389058; ENSG00000206331. [Q99946-1]
ENST00000456814; ENSP00000397896; ENSG00000229488. [Q99946-1]
ENST00000458719; ENSP00000398252; ENSG00000227122. [Q99946-1]
GeneIDi80863.
KEGGihsa:80863.
UCSCiuc003nzt.4. human. [Q99946-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054885 mRNA. Translation: BAB70821.1.
U89336 Genomic DNA. Translation: AAB47496.1.
AL662828 Genomic DNA. Translation: CAI17421.2.
AL662828 Genomic DNA. Translation: CAI17422.2.
AL662884 Genomic DNA. Translation: CAI18339.2.
AL662884 Genomic DNA. Translation: CAI18341.2.
AL845464 Genomic DNA. Translation: CAI41794.2.
AL845464 Genomic DNA. Translation: CAI41796.2.
BX284686 Genomic DNA. Translation: CAM26210.1.
BX284686 Genomic DNA. Translation: CAM26211.1.
BX927239 Genomic DNA. Translation: CAQ06582.1.
BX927239 Genomic DNA. Translation: CAQ06583.1.
CR753803 Genomic DNA. Translation: CAQ09555.1.
CR753803 Genomic DNA. Translation: CAQ09556.1.
CR933878 Genomic DNA. Translation: CAQ09611.1.
CR933878 Genomic DNA. Translation: CAQ09612.1.
CR812478 Genomic DNA. Translation: CAQ10686.1.
CR812478 Genomic DNA. Translation: CAQ10687.1.
CH471081 Genomic DNA. Translation: EAX03589.1.
BC013201 mRNA. Translation: AAH13201.1.
BC063046 mRNA. Translation: AAH63046.1.
CCDSiCCDS4739.1. [Q99946-1]
RefSeqiNP_085154.3. NM_030651.3. [Q99946-1]
UniGeneiHs.549204.
Hs.699821.

3D structure databases

ProteinModelPortaliQ99946.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000211413.

PTM databases

PhosphoSitePlusiQ99946.

Polymorphism and mutation databases

BioMutaiPRRT1.
DMDMi23821870.

Proteomic databases

PaxDbiQ99946.
PeptideAtlasiQ99946.
PRIDEiQ99946.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000211413; ENSP00000211413; ENSG00000204314. [Q99946-1]
ENST00000375150; ENSP00000364292; ENSG00000204314. [Q99946-2]
ENST00000383309; ENSP00000372799; ENSG00000206331. [Q99946-2]
ENST00000414687; ENSP00000414711; ENSG00000235956. [Q99946-1]
ENST00000418753; ENSP00000411544; ENSG00000225141. [Q99946-2]
ENST00000419655; ENSP00000396427; ENSG00000229071. [Q99946-1]
ENST00000423671; ENSP00000411183; ENSG00000229071. [Q99946-2]
ENST00000425739; ENSP00000416064; ENSG00000229488. [Q99946-2]
ENST00000441129; ENSP00000411596; ENSG00000227122. [Q99946-2]
ENST00000444466; ENSP00000405389; ENSG00000225141. [Q99946-1]
ENST00000445122; ENSP00000396426; ENSG00000238056. [Q99946-2]
ENST00000451329; ENSP00000398756; ENSG00000238056. [Q99946-1]
ENST00000452030; ENSP00000394808; ENSG00000235956. [Q99946-2]
ENST00000454112; ENSP00000389058; ENSG00000206331. [Q99946-1]
ENST00000456814; ENSP00000397896; ENSG00000229488. [Q99946-1]
ENST00000458719; ENSP00000398252; ENSG00000227122. [Q99946-1]
GeneIDi80863.
KEGGihsa:80863.
UCSCiuc003nzt.4. human. [Q99946-1]

Organism-specific databases

CTDi80863.
DisGeNETi80863.
GeneCardsiPRRT1.
HGNCiHGNC:13943. PRRT1.
HPAiHPA055149.
neXtProtiNX_Q99946.
OpenTargetsiENSG00000204314.
ENSG00000206331.
ENSG00000225141.
ENSG00000227122.
ENSG00000229071.
ENSG00000229488.
ENSG00000235956.
ENSG00000238056.
PharmGKBiPA25932.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IY74. Eukaryota.
ENOG410XVDW. LUCA.
GeneTreeiENSGT00510000049684.
HOVERGENiHBG079594.
InParanoidiQ99946.
OMAiVPTHTGA.
OrthoDBiEOG091G0HYD.
PhylomeDBiQ99946.
TreeFamiTF331357.

Enzyme and pathway databases

BioCyciZFISH:G66-31816-MONOMER.

Miscellaneous databases

ChiTaRSiPRRT1. human.
GenomeRNAii80863.
PROiQ99946.

Gene expression databases

BgeeiENSG00000204314.
CleanExiHS_PRRT1.
ExpressionAtlasiQ99946. baseline and differential.
GenevisibleiQ99946. HS.

Family and domain databases

InterProiIPR007593. CD225/Dispanin_fam.
[Graphical view]
PfamiPF04505. CD225. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPRRT1_HUMAN
AccessioniPrimary (citable) accession number: Q99946
Secondary accession number(s): A6ND08
, A6ND40, B0S869, Q5SSW4, Q5SSX7, Q5STI1, Q96DW3, Q96NQ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 10, 2002
Last modified: November 30, 2016
This is version 123 of the entry and version 2 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 6
    Human chromosome 6: 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. 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.