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Protein

Ras-related protein Rab-38

Gene

RAB38

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

Activity 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: GO_Central
  • GTP binding Source: UniProtKB
  • GTP-dependent protein binding Source: ParkinsonsUK-UCL

GO - Biological processi

Keywordsi

Biological processProtein 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-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

EuPathDBiHostDB:ENSG00000123892.11
HGNCiHGNC:9776 RAB38
MIMi606281 gene
neXtProtiNX_P57729

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

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
ProteomicsDBi57021

PTM databases

iPTMnetiP57729
PhosphoSitePlusiP57729
SwissPalmiP57729

Expressioni

Tissue specificityi

Expressed in melanocytes.

Gene expression databases

BgeeiENSG00000123892 Expressed in 133 organ(s), highest expression level in gingival epithelium
CleanExiHS_RAB38
ExpressionAtlasiP57729 baseline and differential
GenevisibleiP57729 HS

Organism-specific databases

HPAiHPA071701

Interactioni

Subunit structurei

Interacts with ANKRD27 (PubMed:19403694).1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117198, 2 interactors
DIPiDIP-60520N
IntActiP57729, 2 interactors
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

CDDicd04107 Rab32_Rab38, 1 hit
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR030697 Rab29/Rab38/Rab32
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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YDB7H0YDB7_HUMAN
Ras-related protein Rab-38
RAB38
210Annotation score:
H0YEA4H0YEA4_HUMAN
Ras-related protein Rab-38
RAB38
89Annotation score:

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

Similar proteinsi

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
IntActiP57729, 2 interactors
STRINGi9606.ENSP00000243662

PTM databases

iPTMnetiP57729
PhosphoSitePlusiP57729
SwissPalmiP57729

Polymorphism and mutation databases

BioMutaiRAB38
DMDMi12230516

Proteomic databases

EPDiP57729
MaxQBiP57729
PaxDbiP57729
PeptideAtlasiP57729
PRIDEiP57729
ProteomicsDBi57021

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
EuPathDBiHostDB:ENSG00000123892.11
GeneCardsiRAB38
HGNCiHGNC:9776 RAB38
HPAiHPA071701
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

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

Miscellaneous databases

ChiTaRSiRAB38 human
GeneWikiiRAB38
GenomeRNAii23682
PROiPR:P57729
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123892 Expressed in 133 organ(s), highest expression level in gingival epithelium
CleanExiHS_RAB38
ExpressionAtlasiP57729 baseline and differential
GenevisibleiP57729 HS

Family and domain databases

CDDicd04107 Rab32_Rab38, 1 hit
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR030697 Rab29/Rab38/Rab32
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 nameiRAB38_HUMAN
AccessioniPrimary (citable) accession number: P57729
Secondary accession number(s): Q53XK7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: January 11, 2001
Last modified: November 7, 2018
This is version 160 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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