RAB38 - RAB38, member RAS oncogene family Gene

Also Known as rrGTPbp; NY-MEL-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23682

About RAB38

Cytogenetic location: 11q14.2 Genomic coordinates (GRCh38): 11:87,803,715-88,175,443 (from NCBI)

This gene has 3 transcripts (splice variants), 267 orthologues and 68 paralogues. Biased expression in skin (RPKM 6.0), esophagus (RPKM 5.8) and 13 other tissues.

Summary

Enables several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Involved in several processes, including endosome to melanosome transport; melanosome assembly; and phagosome acidification. Located in several cellular components, including cytoplasmic vesicle; lysosome; and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

RAB38 Products (1)

mRNA Protein Name
NM_022337.3 NP_071732.1 ras-related protein Rab-38
Molecular Function GO Annotation Evidence References Source
enables AP-1 adaptor complex binding IPI
IPI: Inferred from physical interaction
22511774 GOA
NOT enables AP-2 adaptor complex binding IDA
IDA: Inferred from direct assay
22511774 GOA
enables AP-3 adaptor complex binding IPI
IPI: Inferred from physical interaction
22511774 GOA
enables BLOC-2 complex binding IPI
IPI: Inferred from physical interaction
22511774 GOA
enables GTP-dependent protein binding IPI
IPI: Inferred from physical interaction
22511774 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22511774 GOA
Biological Process GO Annotation Evidence References Source
involved in endosome to melanosome transport IMP
IMP: Inferred from mutant phenotype
22511774 GOA
involved in melanosome assembly IDA
IDA: Inferred from direct assay
23084991 GOA
involved in melanosome assembly IMP
IMP: Inferred from mutant phenotype
22511774 GOA
involved in mitochondrion organization IMP
IMP: Inferred from mutant phenotype
25767741 GOA
involved in phagosome acidification IMP
IMP: Inferred from mutant phenotype
21255211 GOA
involved in protein localization to membrane IMP
IMP: Inferred from mutant phenotype
22511774 GOA
Cellular Component GO Annotation Evidence References Source
located in early endosome IDA
IDA: Inferred from direct assay
22511774 GOA
NOT located in early endosome lumen IDA
IDA: Inferred from direct assay
22511774 GOA
located in lysosome IDA
IDA: Inferred from direct assay
25767741 GOA
located in melanosome IDA
IDA: Inferred from direct assay
22511774 GOA
located in melanosome membrane IDA
IDA: Inferred from direct assay
23084991 GOA
located in membrane IDA
IDA: Inferred from direct assay
22511774 GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site IDA
IDA: Inferred from direct assay
25767741 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
25767741 GOA
located in phagocytic vesicle IDA
IDA: Inferred from direct assay
21255211 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAB38 Protein Structure

Ras

Ras: Ras family (11 - 178)

  • 0
  • 100
  • 200
  • 211 a.a.
Protein Preferred Names Protein Names

ras-related protein Rab-38

  • Rab-related GTP-binding protein

RAB38 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RAB38 P57729 JPH3 Homo sapiens Q8WXH2 32814053
Intra
RAB38 P57729 JPH3 Homo sapiens Q8WXH2 32814053
Intra
RAB38 P57729 JPH3 Homo sapiens Q8WXH2 32814053
Intra
RAB38 P57729 DNM2 Homo sapiens P50570-2 32814053
Intra
RAB38 P57729 DNM2 Homo sapiens P50570-2 32814053
Intra
RAB38 P57729 DNM2 Homo sapiens P50570-2 32814053
Intra
RAB38 P57729 MECP2 Homo sapiens P51608 32814053
Intra
RAB38 P57729 MECP2 Homo sapiens P51608 32814053
Intra
RAB38 P57729 MECP2 Homo sapiens P51608 32814053
Intra
RAB38 P57729 TOR1A Homo sapiens O14656-2 32814053
Intra
RAB38 P57729 TOR1A Homo sapiens O14656-2 32814053
Intra
RAB38 P57729 TOR1A Homo sapiens O14656-2 32814053
Intra
RAB38 P57729 SMN1 Homo sapiens Q16637 32814053
Intra
RAB38 P57729 SMN1 Homo sapiens Q16637 32814053
Intra
RAB38 P57729 SMN1 Homo sapiens Q16637 32814053
Intra
RAB38 P57729 LRRK2 Homo sapiens Q5S007
FPS
31552791
Intra
RAB38 P57729 LRRK2 Homo sapiens Q5S007 31552791
Intra
RAB38 P57729 A2M Homo sapiens P01023 32814053
Intra
RAB38 P57729 A2M Homo sapiens P01023 32814053
Intra
RAB38 P57729 A2M Homo sapiens P01023 32814053
Intra
RAB38 P57729 NDUFV2 Homo sapiens P19404 32814053
Intra
RAB38 P57729 NDUFV2 Homo sapiens P19404 32814053
Intra
RAB38 P57729 NDUFV2 Homo sapiens P19404 32814053
Intra
RAB38 P57729 GFAP Homo sapiens P14136 32814053
Intra
RAB38 P57729 GFAP Homo sapiens P14136 32814053
Intra
RAB38 P57729 GFAP Homo sapiens P14136 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

RAB38 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810259 Rab 38 Antibody (YA9603) WB, ICC/IF, IF-Tissue, IP, ELISA human, mouse, rat
HY-P810980 RAB38 Antibody WB, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Oculocutaneous Albinism
  • Albinism, Oculocutaneous

  • Oca

  • Albinism Oculocutaneous

  • Oca - [Oculocutaneous Albinism]

Hermansky-Pudlak Syndrome
  • Hps

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • Hermanski-Pudlak Syndrome

  • Hermansky Pudlak Syndrome

  • Platelet Storage Pool Deficiency

Griscelli Syndrome
  • Chediak-Higashi-Like Syndrome

  • Griscelli-Prunieras Syndrome

  • Partial Albinism-Immunodeficiency Syndrome

  • Griscelli Disease

  • Gs

  • Hypopigmentation Immunodeficiency Disease

  • Partial Albinism With Immunodeficiency

  • Immunodeficiency Syndrome With Hypopigmentation

  • Hypopigmentation-Immunodeficiency Disease

Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

Piebald Trait
  • Piebaldism

  • PBT

  • Partial Albinism

  • Albinoidism, Oculocutaneous, Autosomal Dominant

Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

Carpenter Syndrome 1
  • Carpenter Syndrome

  • Acrocephalopolysyndactyly Type Ii

  • Acps Ii

  • CRPT1

  • Acrocephalopolysyndactyly Type 2

  • Acrocephalosyndactyly, Type Ii

  • Acrocephalopolysyndactyly 2

  • Acps2

  • Acps 2

  • Type Ii Acrocephalosyndactyly

  • Carpenter Syndrome, Type 1

  • Apert-Crouzon Disease

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
  • FTDALS1

  • Frontotemporal Dementia And/Or Motor Neuron Disease

  • Ftdmnd

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

  • Alsftd

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

  • Frontotemporal Dementia With Motor Neuron Disease

  • Ftdals

  • Ftd-Als

  • Ftd-Mnd

  • Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

  • Frontotemporal Lobar Degeneration

  • Grn-Related Frontotemporal Dementia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta RAB38 VGNC VGNC:81536
Felis catus RAB38 VGNC VGNC:81950
Rattus norvegicus RAB38 RGD RGD:628752
Mus musculus RAB38 MGD MGI:1919683
Bos taurus RAB38 VGNC VGNC:33646
Canis familiaris RAB38 VGNC VGNC:45280