Seroatlas · Human Serome Atlas

RIMS1

Regulating synaptic membrane exocytosis protein 1

Also known as: CORD7, KIAA0340, RAB3IP2, RIM, RIM1, RIMS1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q86UR5
Gene: RIMS1
Ensembl: ENSG00000079841
Chromosome: 6
Canonical length: 1692 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

1692 residues, UniProt reviewed canonical sequence.

>Q86UR5|RIMS1
     1  MSSAVGPRGP RPPTVPPPMQ ELPDLSHLTE EERNIIMAVM DRQKEEEEKE EAMLKCVVRD
    61  MAKPAACKTP RNAENQPHQP SPRLHQQFES YKEQVRKIGE EARRYQGEHK DDAPTCGICH
   121  KTKFADGCGH LCSYCRTKFC ARCGGRVSLR SNNEDKVVMW VCNLCRKQQE ILTKSGAWFF
   181  GSGPQQTSQD GTLSDTATGA GSEVPREKKA RLQERSRSQT PLSTAAASSQ DAAPPSAPPD
   241  RSKGAEPSQQ ALGPEQKQAS SRSRSEPPRE RKKTPGLSEQ NGKGALKSER KRVPKTSAQP
   301  VEGAVEERER KERRESRRLE KGRSQDYPDT PEKRDEGKAA DEEKQRKEED YQTRYRSDPN
   361  LARYPVKPPP EEQQMRMHAR VSRARHERRH SDVALPRTEA GAALPEGKAG KRAPAAARAS
   421  PPDSPRAYSA ERTAETRAPG AKQLTNHSPP APRHGPVPAE APELKAQEPL RKQSRLDPSS
   481  AVLMRKAKRE KVETMLRNDS LSSDQSESVR PSPPKPHRSK RGGKKRQMSV SSSEEEGVST
   541  PEYTSCEDVE LESESVSEKG DLDYYWLDPA TWHSRETSPI SSHPVTWQPS KEGDRLIGRV
   601  ILNKRTTMPK DSGALLGLKV VGGKMTDLGR LGAFITKVKK GSLADVVGHL RAGDEVLEWN
   661  GKPLPGATNE EVYNIILESK SEPQVEIIVS RPIGDIPRIP ESSHPPLESS SSSFESQKME
   721  RPSISVISPT SPGALKDAPQ VLPGQLSVKL WYDKVGHQLI VNVLQATDLP ARVDGRPRNP
   781  YVKMYFLPDR SDKSKRRTKT VKKILEPKWN QTFVYSHVHR RDFRERMLEI TVWDQPRVQE
   841  EESEFLGEIL IELETALLDD EPHWYKLQTH DESSLPLPQP SPFMPRRHIH GESSSKKLQR
   901  SQRISDSDIS DYEVDDGIGV VPPVGYRSSA RESKSTTLTV PEQQRTTHHR SRSVSPHRGN
   961  DQGKPRSRLP NVPLQRSLDE IHPTRRSRSP TRHHDASRSP VDHRTRDVDS QYLSEQDSEL
  1021  LMLPRAKRGR SAECLHTTRH LVRHYKTLPP KMPLLQSSSH WNIYSSILPA HTKTKSVTRQ
  1081  DISLHHECFN STVLRFTDEI LVSELQPFLD RARSASTNCL RPDTSLHSPE RERGRWSPSL
  1141  DRRRPPSPRI QIQHASPEND RHSRKSERSS IQKQTRKGTA SDAERVLPTC LSRRGHAAPR
  1201  ATDQPVIRGK HPARSRSSEH SSIRTLCSMH HLVPGGSAPP SPLLTRMHRQ RSPTQSPPAD
  1261  TSFSSRRGRQ LPQVPVRSGS IEQASLVVEE RTRQMKMKVH RFKQTTGSGS SQELDREQYS
  1321  KYNIHKDQYR SCDNVSAKSS DSDVSDVSAI SRTSSASRLS STSFMSEQSE RPRGRISSFT
  1381  PKMQGRRMGT SGRSIMKSTS VSGEMYTLEH NDGSQSDTAV GTVGAGGKKR RSSLSAKVVA
  1441  IVSRRSRSTS QLSQTESGHK KLKSTIQRST ETGMAAEMRK MVRQPSREST DGSINSYSSE
  1501  GNLIFPGVRL GADSQFSDFL DGLGPAQLVG RQTLATPAMG DIQIGMEDKK GQLEVEVIRA
  1561  RSLTQKPGSK STPAPYVKVY LLENGACIAK KKTRIARKTL DPLYQQSLVF DESPQGKVLQ
  1621  VIVWGDYGRM DHKCFMGVAQ ILLEELDLSS MVIGWYKLFP PSSLVDPTLT PLTRRASQSS
  1681  LESSTGPPCI RS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RIMS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.56
Highest tissue expression: 60 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 60 nTPM
cerebral cortex: 25 nTPM
amygdala: 22 nTPM
hippocampal formation: 18 nTPM
basal ganglia: 7.2 nTPM
retina: 6.8 nTPM

Single-cell type

thyrotrophs: 1,476 nCPM
brain excitatory neurons: 1,470 nCPM
somatotrophs: 1,212 nCPM
lactotrophs: 1,101 nCPM
corticotrophs: 768 nCPM
brain inhibitory neurons: 681 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebellum: 850 nTPM
cerebral cortex: 128 nTPM
hippocampal formation: 117 nTPM
basal ganglia: 113 nTPM
pons: 111 nTPM
white matter: 109 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RIMS1.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 1,374 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cone-rod dystrophy 7
Autism spectrum disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.28
gnomAD pLI: 0.99
gnomAD missense Z: 2.01
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RIMS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RIMS1 as an antibody target. Whether an autoantibody or antibody against RIMS1 could matter depends on whether native RIMS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RIMS1 is annotated at the cell surface, where native RIMS1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label RIMS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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