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Protein

Ras-related protein Rab-12

Gene

RAB12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Enzyme 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
  • GTP binding Source: UniProtKB-KW

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Autophagy, Protein transport, Transport

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:G66-31070-MONOMER.
ReactomeiR-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

HGNCiHGNC:31332. RAB12.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.

PTM databases

iPTMnetiQ6IQ22.
PhosphoSitePlusiQ6IQ22.

Expressioni

Gene expression databases

BgeeiENSG00000206418.
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi40 – 48Combined sources9
Helixi55 – 62Combined sources8
Beta strandi77 – 86Combined sources10
Beta strandi89 – 98Combined sources10
Helixi102 – 104Combined sources3
Helixi105 – 114Combined sources10
Beta strandi116 – 123Combined sources8
Helixi127 – 131Combined sources5
Helixi133 – 143Combined sources11
Beta strandi149 – 155Combined sources7
Helixi157 – 162Combined sources6
Helixi167 – 175Combined sources9
Beta strandi181 – 184Combined sources4
Turni187 – 190Combined sources4
Helixi193 – 206Combined sources14

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...

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.
GeneTreeiENSGT00860000133677.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiQ6IQ22.
KOiK07907.
OMAiMDPRYDI.
OrthoDBiEOG091G0PS6.
PhylomeDBiQ6IQ22.
TreeFamiTF314097.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]

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.

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.

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.
GeneCardsiRAB12.
HGNCiHGNC:31332. RAB12.
HPAiHPA040727.
MIMi616448. gene.
neXtProtiNX_Q6IQ22.
OpenTargetsiENSG00000206418.
PharmGKBiPA142671102.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0078. Eukaryota.
ENOG410XPUI. LUCA.
GeneTreeiENSGT00860000133677.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiQ6IQ22.
KOiK07907.
OMAiMDPRYDI.
OrthoDBiEOG091G0PS6.
PhylomeDBiQ6IQ22.
TreeFamiTF314097.

Enzyme and pathway databases

BioCyciZFISH:G66-31070-MONOMER.
ReactomeiR-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

Miscellaneous databases

ChiTaRSiRAB12. human.
EvolutionaryTraceiQ6IQ22.
GenomeRNAii201475.
PROiQ6IQ22.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000206418.
CleanExiHS_RAB12.
GenevisibleiQ6IQ22. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRAB12_HUMAN
AccessioniPrimary (citable) accession number: Q6IQ22
Secondary accession number(s): A6NEF5, Q4KMQ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 9, 2007
Last modified: November 30, 2016
This is version 127 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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.