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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...

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 223223ExtracellularSequence analysisAdd
BLAST
Transmembranei224 – 24421HelicalSequence analysisAdd
BLAST
Topological domaini245 – 27531CytoplasmicSequence analysisAdd
BLAST
Transmembranei276 – 29621HelicalSequence analysisAdd
BLAST
Topological domaini297 – 30610ExtracellularSequence analysis

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25932.

Polymorphism and mutation databases

BioMutaiPRRT1.
DMDMi23821870.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 306306Proline-rich transmembrane protein 1PRO_0000135697Add
BLAST

Proteomic databases

PaxDbiQ99946.
PRIDEiQ99946.

Expressioni

Gene expression databases

BgeeiQ99946.
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)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi41 – 499Poly-His
Compositional biasi121 – 1277Poly-Pro
Compositional biasi128 – 1314Poly-Ala
Compositional biasi132 – 1376Poly-Pro
Compositional biasi203 – 2064Poly-Pro

Sequence similaritiesi

Belongs to the CD225/Dispanin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IY74. Eukaryota.
ENOG410XVDW. LUCA.
GeneTreeiENSGT00510000049684.
HOVERGENiHBG079594.
InParanoidiQ99946.
OMAiVPTHTGA.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti20 – 201Y → F in BAB70821 (PubMed:14702039).Curated
Sequence conflicti47 – 471H → Y in BAB70821 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941A → T in a breast cancer sample; somatic mutation. 1 Publication
VAR_036212

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 113113MSSEK…PDPYL → MPGTQTPAPAEDPHSGCRDP VPARPQACHPKS in isoform 2. 1 PublicationVSP_003808Add
BLAST

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]
XP_011544625.1. XM_011546323.1. [Q99946-2]
XP_011546794.1. XM_011548492.1. [Q99946-2]
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]
XP_011544625.1. XM_011546323.1. [Q99946-2]
XP_011546794.1. XM_011548492.1. [Q99946-2]
UniGeneiHs.549204.
Hs.699821.

3D structure databases

ProteinModelPortaliQ99946.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000211413.

Polymorphism and mutation databases

BioMutaiPRRT1.
DMDMi23821870.

Proteomic databases

PaxDbiQ99946.
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.
GeneCardsiPRRT1.
HGNCiHGNC:13943. PRRT1.
HPAiHPA055149.
neXtProtiNX_Q99946.
PharmGKBiPA25932.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiPRRT1. human.
GenomeRNAii80863.
PROiQ99946.

Gene expression databases

BgeeiQ99946.
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...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORM 1).
    Tissue: Cerebellum.
  2. "Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse."
    Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S., Campbell R.D., Hood L.
    Genome Res. 13:2621-2636(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] (ISOFORMS 1 AND 2).
    Tissue: Brain and Skin.
  6. "The dispanins: a novel gene family of ancient origin that contains 14 human members."
    Sallman Almen M., Bringeland N., Fredriksson R., Schioth H.B.
    PLoS ONE 7:E31961-E31961(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENE FAMILY.
  7. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-94.

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: June 8, 2016
This is version 118 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.