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Protein

Ras-related protein Rab-12

Gene

RAB12

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

Functioni

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By similarity).By similarity

Activity regulationi

Rab activation is generally mediated by a guanine exchange factor (GEF), while inactivation through hydrolysis of bound GTP is catalyzed by a GTPase activating protein (GAP) (By similarity). That Rab is activated by DENND3, a guanine exchange factor.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi49 – 57GTP9
Nucleotide bindingi97 – 101GTPBy similarity5
Nucleotide bindingi155 – 159GTP5
Nucleotide bindingi187 – 188GTP2

GO - Molecular functioni

  • GDP binding Source: UniProtKB
  • GTPase activity Source: InterPro
  • GTP binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Biological processAutophagy, Protein transport, Transport
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-8873719 RAB geranylgeranylation
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-12
Gene namesi
Name:RAB12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000206418.3
HGNCiHGNC:31332 RAB12
MIMi616448 gene
neXtProtiNX_Q6IQ22

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

Keywords - Cellular componenti

Cytoplasmic vesicle, Endosome, Golgi apparatus, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi201475
OpenTargetsiENSG00000206418
PharmGKBiPA142671102

Polymorphism and mutation databases

BioMutaiRAB12
DMDMi122064944

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002713771 – 244Ras-related protein Rab-12Add BLAST244

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei21PhosphoserineCombined sources1
Modified residuei25PhosphoserineBy similarity1
Modified residuei106PhosphoserineCombined sources1
Lipidationi243S-geranylgeranyl cysteineBy similarity1
Lipidationi244S-geranylgeranyl cysteineBy similarity1

Keywords - PTMi

Acetylation, Lipoprotein, Phosphoprotein, Prenylation

Proteomic databases

EPDiQ6IQ22
MaxQBiQ6IQ22
PaxDbiQ6IQ22
PeptideAtlasiQ6IQ22
PRIDEiQ6IQ22
ProteomicsDBi66478

PTM databases

iPTMnetiQ6IQ22
PhosphoSitePlusiQ6IQ22

Expressioni

Gene expression databases

BgeeiENSG00000206418 Expressed in 209 organ(s), highest expression level in amniotic fluid
CleanExiHS_RAB12
GenevisibleiQ6IQ22 HS

Organism-specific databases

HPAiHPA040727

Interactioni

Subunit structurei

Interacts with RABIF and OPTN.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
LRRK2Q5S0072EBI-4289591,EBI-5323863

Protein-protein interaction databases

BioGridi128387, 5 interactors
IntActiQ6IQ22, 8 interactors
STRINGi9606.ENSP00000331748

Structurei

Secondary structure

1244
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ6IQ22
SMRiQ6IQ22
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6IQ22

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi71 – 79Effector regionBy similarity9

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiKOG0078 Eukaryota
ENOG410XPUI LUCA
GeneTreeiENSGT00890000139330
HOGENOMiHOG000233968
HOVERGENiHBG009351
InParanoidiQ6IQ22
KOiK07907
OMAiADFKLQI
OrthoDBiEOG091G0PS6
PhylomeDBiQ6IQ22
TreeFamiTF314097

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit

Sequencei

Sequence statusi: Complete.

Q6IQ22-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDPGAALQRR AGGGGGLGAG SPALSGGQGR RRKQPPRPAD FKLQVIIIGS
60 70 80 90 100
RGVGKTSLME RFTDDTFCEA CKSTVGVDFK IKTVELRGKK IRLQIWDTAG
110 120 130 140 150
QERFNSITSA YYRSAKGIIL VYDITKKETF DDLPKWMKMI DKYASEDAEL
160 170 180 190 200
LLVGNKLDCE TDREITRQQG EKFAQQITGM RFCEASAKDN FNVDEIFLKL
210 220 230 240
VDDILKKMPL DILRNELSNS ILSLQPEPEI PPELPPPRPH VRCC
Length:244
Mass (Da):27,248
Last modified:January 9, 2007 - v3
Checksum:iB4DC65DD0DCB45C4
GO

Sequence cautioni

The sequence AAH71600 differs from that shown. Intron retention.Curated
The sequence AAH98407 differs from that shown. Intron retention.Curated
The sequence BC050338 differs from that shown. Reason: Frameshift at position 195.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP001793 Genomic DNA No translation available.
CH471113 Genomic DNA Translation: EAX01616.1
BC050338 mRNA No translation available.
BC071600 mRNA Translation: AAH71600.2 Sequence problems.
BC098407 mRNA Translation: AAH98407.1 Sequence problems.
CCDSiCCDS42410.1
RefSeqiNP_001020471.2, NM_001025300.2
UniGeneiHs.270074

Genome annotation databases

EnsembliENST00000329286; ENSP00000331748; ENSG00000206418
GeneIDi201475
KEGGihsa:201475
UCSCiuc002knp.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AP001793 Genomic DNA No translation available.
CH471113 Genomic DNA Translation: EAX01616.1
BC050338 mRNA No translation available.
BC071600 mRNA Translation: AAH71600.2 Sequence problems.
BC098407 mRNA Translation: AAH98407.1 Sequence problems.
CCDSiCCDS42410.1
RefSeqiNP_001020471.2, NM_001025300.2
UniGeneiHs.270074

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2IL1X-ray2.10A36-208[»]
ProteinModelPortaliQ6IQ22
SMRiQ6IQ22
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128387, 5 interactors
IntActiQ6IQ22, 8 interactors
STRINGi9606.ENSP00000331748

PTM databases

iPTMnetiQ6IQ22
PhosphoSitePlusiQ6IQ22

Polymorphism and mutation databases

BioMutaiRAB12
DMDMi122064944

Proteomic databases

EPDiQ6IQ22
MaxQBiQ6IQ22
PaxDbiQ6IQ22
PeptideAtlasiQ6IQ22
PRIDEiQ6IQ22
ProteomicsDBi66478

Protocols and materials databases

DNASUi201475
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329286; ENSP00000331748; ENSG00000206418
GeneIDi201475
KEGGihsa:201475
UCSCiuc002knp.4 human

Organism-specific databases

CTDi201475
DisGeNETi201475
EuPathDBiHostDB:ENSG00000206418.3
GeneCardsiRAB12
HGNCiHGNC:31332 RAB12
HPAiHPA040727
MIMi616448 gene
neXtProtiNX_Q6IQ22
OpenTargetsiENSG00000206418
PharmGKBiPA142671102
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0078 Eukaryota
ENOG410XPUI LUCA
GeneTreeiENSGT00890000139330
HOGENOMiHOG000233968
HOVERGENiHBG009351
InParanoidiQ6IQ22
KOiK07907
OMAiADFKLQI
OrthoDBiEOG091G0PS6
PhylomeDBiQ6IQ22
TreeFamiTF314097

Enzyme and pathway databases

ReactomeiR-HSA-8873719 RAB geranylgeranylation
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

ChiTaRSiRAB12 human
EvolutionaryTraceiQ6IQ22
GenomeRNAii201475
PROiPR:Q6IQ22
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000206418 Expressed in 209 organ(s), highest expression level in amniotic fluid
CleanExiHS_RAB12
GenevisibleiQ6IQ22 HS

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRAB12_HUMAN
AccessioniPrimary (citable) accession number: Q6IQ22
Secondary accession number(s): A6NEF5, Q4KMQ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 9, 2007
Last modified: September 12, 2018
This is version 140 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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