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Protein

Ras-related protein Rab-38

Gene

RAB38

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB32, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity).By similarity2 Publications

Enzyme regulationi

Regulated by a guanine nucleotide-exchange factor (GEF) and a GTPase-activating protein (GAP) and alternates between an inactive GDP-bound and an active GTP-bound form. The BLOC-3 complex composed of HPS1 and HPS4 acts as its GEF, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form. SGSM2 acts as its GAP and inactivates it by stimulating its GTPase activity.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi16 – 23GTPBy similarity8
Nucleotide bindingi65 – 69GTPBy similarity5
Nucleotide bindingi127 – 130GTPBy similarity4

GO - Molecular functioni

  • AP-1 adaptor complex binding Source: ParkinsonsUK-UCL
  • AP-3 adaptor complex binding Source: ParkinsonsUK-UCL
  • BLOC-2 complex binding Source: ParkinsonsUK-UCL
  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB
  • GTP-dependent protein binding Source: ParkinsonsUK-UCL

GO - Biological processi

  • endosome to melanosome transport Source: ParkinsonsUK-UCL
  • melanosome assembly Source: UniProtKB
  • mitochondrion organization Source: ParkinsonsUK-UCL
  • phagosome acidification Source: UniProtKB
  • platelet dense granule organization Source: Ensembl
  • protein localization to membrane Source: ParkinsonsUK-UCL
  • protein transport Source: UniProtKB
  • small GTPase mediated signal transduction Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123892-MONOMER.
ReactomeiR-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-38
Alternative name(s):
Melanoma antigen NY-MEL-1
Gene namesi
Name:RAB38
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:9776. RAB38.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Ensembl
  • early endosome Source: ParkinsonsUK-UCL
  • endoplasmic reticulum Source: Ensembl
  • ER-mitochondrion membrane contact site Source: ParkinsonsUK-UCL
  • lysosome Source: ParkinsonsUK-UCL
  • melanosome Source: ParkinsonsUK-UCL
  • melanosome membrane Source: UniProtKB
  • membrane Source: ParkinsonsUK-UCL
  • mitochondrion Source: ParkinsonsUK-UCL
  • phagocytic vesicle Source: UniProtKB
  • phagocytic vesicle membrane Source: UniProtKB-SubCell
  • plasma membrane Source: UniProtKB-SubCell
  • trans-Golgi network Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi23682.
OpenTargetsiENSG00000123892.
PharmGKBiPA34129.

Polymorphism and mutation databases

BioMutaiRAB38.
DMDMi12230516.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001212511 – 211Ras-related protein Rab-38Add BLAST211

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi205S-palmitoyl cysteineSequence analysis1
Lipidationi208S-geranylgeranyl cysteine1 Publication1

Post-translational modificationi

Although at least one in vitro system can process and methylate the prenylated C-terminal, in an in vitro system that normally express Rab-38 and in vivo the prenylated C-terminal is not proteolytically processed and not methylated.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei208Not methylated1

Keywords - PTMi

Lipoprotein, Palmitate, Prenylation

Proteomic databases

EPDiP57729.
MaxQBiP57729.
PaxDbiP57729.
PeptideAtlasiP57729.
PRIDEiP57729.

PTM databases

iPTMnetiP57729.
PhosphoSitePlusiP57729.
SwissPalmiP57729.

Expressioni

Tissue specificityi

Expressed in melanocytes.

Gene expression databases

BgeeiENSG00000123892.
CleanExiHS_RAB38.
ExpressionAtlasiP57729. baseline and differential.
GenevisibleiP57729. HS.

Interactioni

Subunit structurei

Interacts with ANKRD27 (PubMed:19403694).1 Publication

GO - Molecular functioni

  • AP-1 adaptor complex binding Source: ParkinsonsUK-UCL
  • AP-3 adaptor complex binding Source: ParkinsonsUK-UCL
  • BLOC-2 complex binding Source: ParkinsonsUK-UCL
  • GTP-dependent protein binding Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi117198. 2 interactors.
DIPiDIP-60520N.
STRINGi9606.ENSP00000243662.

Structurei

3D structure databases

ProteinModelPortaliP57729.
SMRiP57729.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi38 – 46Effector regionBy similarity9

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiKOG4423. Eukaryota.
ENOG410YITC. LUCA.
GeneTreeiENSGT00760000119125.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiP57729.
KOiK07923.
OMAiKRYVHHN.
OrthoDBiEOG091G0K53.
PhylomeDBiP57729.
TreeFamiTF324491.

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.

P57729-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQAPHKEHLY KLLVIGDLGV GKTSIIKRYV HQNFSSHYRA TIGVDFALKV
60 70 80 90 100
LHWDPETVVR LQLWDIAGQE RFGNMTRVYY REAMGAFIVF DVTRPATFEA
110 120 130 140 150
VAKWKNDLDS KLSLPNGKPV SVVLLANKCD QGKDVLMNNG LKMDQFCKEH
160 170 180 190 200
GFVGWFETSA KENINIDEAS RCLVKHILAN ECDLMESIEP DVVKPHLTST
210
KVASCSGCAK S
Length:211
Mass (Da):23,712
Last modified:January 11, 2001 - v1
Checksum:i0D16B42A1B237539
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036415111K → T in a colorectal cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF235022 mRNA. Translation: AAG30731.1.
BT009842 mRNA. Translation: AAP88844.1.
DQ178619 Genomic DNA. Translation: ABA03166.1.
BC015808 mRNA. Translation: AAH15808.1.
CCDSiCCDS8281.1.
RefSeqiNP_071732.1. NM_022337.2.
UniGeneiHs.591975.

Genome annotation databases

EnsembliENST00000243662; ENSP00000243662; ENSG00000123892.
GeneIDi23682.
KEGGihsa:23682.
UCSCiuc001pcj.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF235022 mRNA. Translation: AAG30731.1.
BT009842 mRNA. Translation: AAP88844.1.
DQ178619 Genomic DNA. Translation: ABA03166.1.
BC015808 mRNA. Translation: AAH15808.1.
CCDSiCCDS8281.1.
RefSeqiNP_071732.1. NM_022337.2.
UniGeneiHs.591975.

3D structure databases

ProteinModelPortaliP57729.
SMRiP57729.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117198. 2 interactors.
DIPiDIP-60520N.
STRINGi9606.ENSP00000243662.

PTM databases

iPTMnetiP57729.
PhosphoSitePlusiP57729.
SwissPalmiP57729.

Polymorphism and mutation databases

BioMutaiRAB38.
DMDMi12230516.

Proteomic databases

EPDiP57729.
MaxQBiP57729.
PaxDbiP57729.
PeptideAtlasiP57729.
PRIDEiP57729.

Protocols and materials databases

DNASUi23682.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243662; ENSP00000243662; ENSG00000123892.
GeneIDi23682.
KEGGihsa:23682.
UCSCiuc001pcj.3. human.

Organism-specific databases

CTDi23682.
DisGeNETi23682.
GeneCardsiRAB38.
HGNCiHGNC:9776. RAB38.
MIMi606281. gene.
neXtProtiNX_P57729.
OpenTargetsiENSG00000123892.
PharmGKBiPA34129.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4423. Eukaryota.
ENOG410YITC. LUCA.
GeneTreeiENSGT00760000119125.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiP57729.
KOiK07923.
OMAiKRYVHHN.
OrthoDBiEOG091G0K53.
PhylomeDBiP57729.
TreeFamiTF324491.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123892-MONOMER.
ReactomeiR-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

Miscellaneous databases

GeneWikiiRAB38.
GenomeRNAii23682.
PROiP57729.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123892.
CleanExiHS_RAB38.
ExpressionAtlasiP57729. baseline and differential.
GenevisibleiP57729. 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 nameiRAB38_HUMAN
AccessioniPrimary (citable) accession number: P57729
Secondary accession number(s): Q53XK7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: January 11, 2001
Last modified: November 30, 2016
This is version 148 of the entry and version 1 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 11
    Human chromosome 11: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.