RAB4A - RAB4A, member RAS oncogene family Gene

Also Known as RAB4; HRES1; HRES-1; HRES-1/RAB4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5867

About RAB4A

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,271,111-229,305,894 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues and 68 paralogues. Ubiquitous expression in prostate (RPKM 22.3), heart (RPKM 17.5) and 25 other tissues.

Summary

This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

RAB4A Products (2)

mRNA Protein Name
NM_001271998.2 NP_001258927.1 ras-related protein Rab-4A isoform 2
NM_004578.4 NP_004569.2 ras-related protein Rab-4A isoform 1
Molecular Function GO Annotation Evidence References Source
enables GDP binding IDA
IDA: Inferred from direct assay
15907487 GOA
enables GTP binding IDA
IDA: Inferred from direct assay
15907487 GOA
enables GTPase activity IDA
IDA: Inferred from direct assay
15907487 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16034420 GOA
Biological Process GO Annotation Evidence References Source
involved in antigen processing and presentation IMP
IMP: Inferred from mutant phenotype
19717423 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular exosome IDA
IDA: Inferred from direct assay
15326289 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
19590752 GOA
located in vesicle IDA
IDA: Inferred from direct assay
19590752 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
Protein Preferred Names Protein Names

ras-related protein Rab-4A

  • HTLV-1 related endogenous sequence

RAB4A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RAB4A P20338 GDI2 Homo sapiens P50395 33961781
Intra
RAB4A P20338 GDI2 Homo sapiens P50395 19570034
Intra
RAB4A P20338 GDI2 Homo sapiens P50395 35271311
Intra
RAB4A P20338 RBSN Homo sapiens Q9H1K0 32296183
Intra
RAB4A P20338 RBSN Homo sapiens Q9H1K0 29997244
Intra
RAB4A P20338 RBSN Homo sapiens Q9H1K0 32296183
Intra
RAB4A P20338 RBSN Homo sapiens Q9H1K0 32296183
Intra
RAB4A P20338 KCTD7 Homo sapiens Q96MP8-2 32296183
Intra
RAB4A P20338 HACE1 Homo sapiens Q8IYU2 32296183
Intra
RAB4A P20338 HACE1 Homo sapiens Q8IYU2 32296183
Intra
RAB4A P20338 HACE1 Homo sapiens Q8IYU2 32296183
Intra
RAB4A P20338 RABEP1 Homo sapiens Q15276 32296183
Intra
RAB4A P20338 RABEP1 Homo sapiens Q15276 32296183
Intra
RAB4A P20338 RABEP1 Homo sapiens Q15276 32296183
Intra
RAB4A P20338 GRIPAP1 Homo sapiens Q4V328
Y2H
21988832
Intra
RAB4A P20338 GRIPAP1 Homo sapiens Q4V328 32296183
Intra
RAB4A P20338 GRIPAP1 Homo sapiens Q4V328 32296183
Intra
RAB4A P20338 GRIPAP1 Homo sapiens Q4V328 32296183
Intra
RAB4A P20338 GARIN6 Homo sapiens Q8NEG0 32296183
Intra
RAB4A P20338 GARIN6 Homo sapiens Q8NEG0 32296183
Intra
RAB4A P20338 GARIN6 Homo sapiens Q8NEG0 32296183
Intra
RAB4A P20338 GDI1 Homo sapiens P31150 35271311
Intra
RAB4A P20338 EXOC5 Homo sapiens O00471 25416956
Intra
RAB4A P20338 EXOC5 Homo sapiens O00471 32296183
Intra
RAB4A P20338 EXOC5 Homo sapiens O00471 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

RAB4A Antibodies

Cat. No. Product Name Application Reactivity
HY-P82527 Rab4 Antibody (YA2272) WB, ICC/IF, FC Human, Mouse, Rat
HY-P85557 Rab4 Antibody (YA5249) WB Human, Mouse, Rat, Monkey

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 2e
  • Pontocerebellar Hypoplasia Type 2

  • Pontocerebellar Hypoplasia Type 2e

  • Pch2

  • PCH2E

  • Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

  • Pontocerebellar Hypoplasia 2e

  • Pcca2

  • Progressive Cerebello-Cerebral Atrophy Type 2

  • Doid:0112328

  • Hypoplasia, Pontocerebellar, Type 2e

  • Pontocerebellar Hypoplasia, Type 2d

  • Pontocerebellar Hypoplasia Type 2a

Diffuse Infiltrative Lymphocytosis Syndrome
Charcot-Marie-Tooth Disease, Type 4d
  • Charcot-Marie-Tooth Disease Type 4d

  • CMT4D

  • Hmsnl

  • Hmsn4d

  • Charcot-Marie-Tooth Neuropathy Type 4d

  • Hereditary Motor And Sensory Neuropathy Lom Type

  • Hmsn-Lom

  • Neuropathy, Hereditary Motor And Sensory, Lom Type

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d

  • Charcot-Marie-Tooth Neuropathy, Type 4d

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d

  • Hmsn Lom Type

  • Hmsn, Lom Type

  • Hereditary Motor And Sensory Neuropathy, Lom Type

  • Charcot-Marie-Tooth Disease 4d

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d

  • Hereditary Motor And Sensory Neuropathy Ivd

  • Hmsn Ivd

Charcot-Marie-Tooth Disease, Axonal, Type 2b
  • Charcot-Marie-Tooth Disease Type 2b

  • CMT2B

  • Hmsn Iib

  • Hmsn2b

  • Charcot-Marie-Tooth Disease, Type 2b

  • Hereditary Motor And Sensory Neuropathy Iib

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

  • Charcot-Marie-Tooth Neuropathy Type 2b

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

  • Charcot-Marie-Tooth Neuropathy, Type 2b

  • Hereditary Motor And Sensory Nueropathy Iib

  • Cmt 2b

  • Charcot Marie Tooth Disease Type 2b

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2b

  • Hereditary Motor And Sensory Neuropathy 2 B

  • Peripheral Sensory Neuropathy, Autosomal Dominant

  • Charcot-Marie-Tooth Disease 2b

  • Charcot-Marie-Tooth Disease Axonal Type 2b

  • Charcot-Marie-Tooth Disease Neuronal Type 2b

  • Peripheral Sensory Neuropathy Autosomal Dominant

  • Psn

Chronic Myelomonocytic Leukemia
  • Leukemia, Myelomonocytic, Chronic

  • Cmml

  • Leukemia Myelomonocytic Chronic

  • Cmml - [Chronic Myelomonocytic Leukaemia]

  • Chronic Myelomonocytic Leukaemia Without Mention Of Remission

  • Chronic Monocytic Leukaemia

  • Chronic Monocytoid Leukaemia

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

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 RAB4A VGNC VGNC:81545
Rattus norvegicus RAB4A RGD RGD:3529
Canis familiaris RAB4A VGNC VGNC:45290
Mus musculus RAB4A MGD MGI:105069
Bos taurus RAB4A VGNC VGNC:33657
Others RAB4A NCBI