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Protein

Proline-rich membrane anchor 1

Gene

PRIMA1

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

Functioni

Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in brain. Also able to organize ACHE into tetramers (By similarity).By similarity

GO - Biological processi

Keywordsi

Biological processNeurotransmitter degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Proline-rich membrane anchor 1
Short name:
PRiMA
Gene namesi
Name:PRIMA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000175785.12
HGNCiHGNC:18319 PRIMA1
MIMi613851 gene
neXtProtiNX_Q86XR5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini36 – 92ExtracellularSequence analysisAdd BLAST57
Transmembranei93 – 113HelicalSequence analysisAdd BLAST21
Topological domaini114 – 153CytoplasmicSequence analysisAdd BLAST40

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi145270
OpenTargetsiENSG00000175785
PharmGKBiPA38315

Polymorphism and mutation databases

BioMutaiPRIMA1
DMDMi37537937

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35By similarityAdd BLAST35
ChainiPRO_000002210736 – 153Proline-rich membrane anchor 1Add BLAST118

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi79N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ86XR5
PeptideAtlasiQ86XR5
PRIDEiQ86XR5
ProteomicsDBi70321
70322 [Q86XR5-2]

PTM databases

iPTMnetiQ86XR5
PhosphoSitePlusiQ86XR5

Expressioni

Inductioni

By RAF1.1 Publication

Gene expression databases

BgeeiENSG00000175785 Expressed in 170 organ(s), highest expression level in tibial nerve
CleanExiHS_PRIMA1
ExpressionAtlasiQ86XR5 baseline and differential
GenevisibleiQ86XR5 HS

Organism-specific databases

HPAiHPA046671
HPA060047

Interactioni

Subunit structurei

Interacts with ACHE, probably through disulfide bonds.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000376848

Structurei

3D structure databases

ProteinModelPortaliQ86XR5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini56 – 70PRADAdd BLAST15

Domaini

The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits.By similarity

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IZWQ Eukaryota
ENOG410YWDZ LUCA
GeneTreeiENSGT00390000006240
HOGENOMiHOG000115697
HOVERGENiHBG053680
InParanoidiQ86XR5
OMAiRRGCCWP
OrthoDBiEOG091G0P7D
PhylomeDBiQ86XR5
TreeFamiTF337232

Family and domain databases

InterProiView protein in InterPro
IPR039466 RIMA1
PANTHERiPTHR45212 PTHR45212, 1 hit

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: Q86XR5-1) [UniParc]FASTAAdd to basket
Also known as: Variant I

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
MLLRDLVLRR GCCWSSLLLH CALHPLWGFV QVTHGEPQKS CSKVTDSCRH
60 70 80 90 100
VCQCRPPPPL PPPPPPPPPP RLLSAPAPNS TSCPTEESWW SGLVIIIAVC
110 120 130 140 150
CASLVFLTVL VIICYKAIKR KPLRKDENGT SVAEYPMSAS QSNKGVDVNN

AVV
Length:153
Mass (Da):16,689
Last modified:October 3, 2003 - v2
Checksum:i2F82EA50F0F87EC1
GO
Isoform 2 (identifier: Q86XR5-2) [UniParc]FASTAAdd to basket
Also known as: Variant II

The sequence of this isoform differs from the canonical sequence as follows:
     121-124: KPLR → NHAI
     125-153: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:124
Mass (Da):13,636
Checksum:i4E4FF3CE50A0B434
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03598022A → V in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008494121 – 124KPLR → NHAI in isoform 2. 1 Publication4
Alternative sequenceiVSP_008495125 – 153Missing in isoform 2. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY225516 mRNA Translation: AAO74853.1
AY225517 mRNA Translation: AAO74854.1
CCDSiCCDS9912.1 [Q86XR5-1]
RefSeqiNP_821092.1, NM_178013.3 [Q86XR5-1]
XP_011534758.1, XM_011536456.2 [Q86XR5-1]
UniGeneiHs.432401

Genome annotation databases

EnsembliENST00000316227; ENSP00000320948; ENSG00000175785 [Q86XR5-2]
ENST00000393140; ENSP00000376848; ENSG00000175785 [Q86XR5-1]
ENST00000393143; ENSP00000376851; ENSG00000175785 [Q86XR5-1]
ENST00000477603; ENSP00000434370; ENSG00000175785 [Q86XR5-2]
ENST00000611347; ENSP00000479082; ENSG00000274089 [Q86XR5-1]
ENST00000617019; ENSP00000479855; ENSG00000274089 [Q86XR5-2]
ENST00000627063; ENSP00000486875; ENSG00000274089 [Q86XR5-2]
ENST00000629961; ENSP00000486953; ENSG00000274089 [Q86XR5-1]
GeneIDi145270
KEGGihsa:145270
UCSCiuc001ybw.2 human [Q86XR5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY225516 mRNA Translation: AAO74853.1
AY225517 mRNA Translation: AAO74854.1
CCDSiCCDS9912.1 [Q86XR5-1]
RefSeqiNP_821092.1, NM_178013.3 [Q86XR5-1]
XP_011534758.1, XM_011536456.2 [Q86XR5-1]
UniGeneiHs.432401

3D structure databases

ProteinModelPortaliQ86XR5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000376848

PTM databases

iPTMnetiQ86XR5
PhosphoSitePlusiQ86XR5

Polymorphism and mutation databases

BioMutaiPRIMA1
DMDMi37537937

Proteomic databases

PaxDbiQ86XR5
PeptideAtlasiQ86XR5
PRIDEiQ86XR5
ProteomicsDBi70321
70322 [Q86XR5-2]

Protocols and materials databases

DNASUi145270
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316227; ENSP00000320948; ENSG00000175785 [Q86XR5-2]
ENST00000393140; ENSP00000376848; ENSG00000175785 [Q86XR5-1]
ENST00000393143; ENSP00000376851; ENSG00000175785 [Q86XR5-1]
ENST00000477603; ENSP00000434370; ENSG00000175785 [Q86XR5-2]
ENST00000611347; ENSP00000479082; ENSG00000274089 [Q86XR5-1]
ENST00000617019; ENSP00000479855; ENSG00000274089 [Q86XR5-2]
ENST00000627063; ENSP00000486875; ENSG00000274089 [Q86XR5-2]
ENST00000629961; ENSP00000486953; ENSG00000274089 [Q86XR5-1]
GeneIDi145270
KEGGihsa:145270
UCSCiuc001ybw.2 human [Q86XR5-1]

Organism-specific databases

CTDi145270
DisGeNETi145270
EuPathDBiHostDB:ENSG00000175785.12
GeneCardsiPRIMA1
H-InvDBiHIX0037698
HGNCiHGNC:18319 PRIMA1
HPAiHPA046671
HPA060047
MIMi613851 gene
neXtProtiNX_Q86XR5
OpenTargetsiENSG00000175785
PharmGKBiPA38315
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZWQ Eukaryota
ENOG410YWDZ LUCA
GeneTreeiENSGT00390000006240
HOGENOMiHOG000115697
HOVERGENiHBG053680
InParanoidiQ86XR5
OMAiRRGCCWP
OrthoDBiEOG091G0P7D
PhylomeDBiQ86XR5
TreeFamiTF337232

Miscellaneous databases

ChiTaRSiPRIMA1 human
GeneWikiiPRIMA1
GenomeRNAii145270
PROiPR:Q86XR5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175785 Expressed in 170 organ(s), highest expression level in tibial nerve
CleanExiHS_PRIMA1
ExpressionAtlasiQ86XR5 baseline and differential
GenevisibleiQ86XR5 HS

Family and domain databases

InterProiView protein in InterPro
IPR039466 RIMA1
PANTHERiPTHR45212 PTHR45212, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPRIMA_HUMAN
AccessioniPrimary (citable) accession number: Q86XR5
Secondary accession number(s): Q86XR6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: October 3, 2003
Last modified: November 7, 2018
This is version 112 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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