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Protein

Ras-related protein Rab-28

Gene

RAB28

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

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi19 – 27GTP1 Publication9
Nucleotide bindingi68 – 72GTP1 Publication5
Nucleotide bindingi129 – 132GTP1 Publication4
Nucleotide bindingi159 – 161GTP1 Publication3

GO - Molecular functioni

  • GDP binding Source: UniProtKB
  • GTPase activity Source: ProtInc
  • GTP binding Source: UniProtKB

GO - Biological processi

Keywordsi

LigandGTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-28
Gene namesi
Name:RAB28
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000157869.14
HGNCiHGNC:9768 RAB28
MIMi612994 gene
neXtProtiNX_P51157

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, Cell projection, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Cone-rod dystrophy 18 (CORD18)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
See also OMIM:615374

Keywords - Diseasei

Cone-rod dystrophy

Organism-specific databases

DisGeNETi9364
MalaCardsiRAB28
MIMi615374 phenotype
OpenTargetsiENSG00000157869
Orphaneti1872 Cone rod dystrophy
PharmGKBiPA34119

Polymorphism and mutation databases

BioMutaiRAB28
DMDMi85700393

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001212272 – 218Ras-related protein Rab-28Add BLAST217
PropeptideiPRO_0000396721219 – 221Removed in mature formCurated3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei8PhosphoserineCombined sources1
Modified residuei218Cysteine methyl esterCurated1
Lipidationi218S-farnesyl cysteine1 Publication1

Keywords - PTMi

Acetylation, Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

EPDiP51157
MaxQBiP51157
PaxDbiP51157
PeptideAtlasiP51157
PRIDEiP51157
ProteomicsDBi56287
56288 [P51157-2]

PTM databases

iPTMnetiP51157
PhosphoSitePlusiP51157

Expressioni

Tissue specificityi

Isoform S is detected in most tissues investigated: cortex, liver, kidney, skeletal muscle, adipose tissue, testis, urothelium, lung, bone marrow and retinal pigment epithelium (RPE). Isoform L 2 is widely and abundantly expressed all tissues. Isoform 3 is highly expressed in heart, lung, bone marrow, retina, brain, and RPE.1 Publication

Gene expression databases

BgeeiENSG00000157869
CleanExiHS_RAB28
ExpressionAtlasiP51157 baseline and differential
GenevisibleiP51157 HS

Organism-specific databases

HPAiHPA044575

Interactioni

Protein-protein interaction databases

BioGridi114765, 13 interactors
IntActiP51157, 10 interactors
STRINGi9606.ENSP00000328551

Structurei

Secondary structure

1221
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi12 – 18Combined sources7
Helixi25 – 33Combined sources9
Helixi34 – 36Combined sources3
Helixi39 – 43Combined sources5
Turni44 – 46Combined sources3
Beta strandi47 – 56Combined sources10
Turni57 – 59Combined sources3
Beta strandi60 – 68Combined sources9
Helixi71 – 75Combined sources5
Helixi79 – 83Combined sources5
Beta strandi87 – 94Combined sources8
Helixi98 – 102Combined sources5
Helixi104 – 118Combined sources15
Beta strandi123 – 129Combined sources7
Helixi131 – 136Combined sources6
Helixi141 – 151Combined sources11
Beta strandi154 – 158Combined sources5
Turni160 – 162Combined sources3
Helixi166 – 177Combined sources12

3D structure databases

ProteinModelPortaliP51157
SMRiP51157
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51157

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi41 – 49Effector regionBy similarity9

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiKOG0078 Eukaryota
ENOG410XPUI LUCA
GeneTreeiENSGT00800000124173
HOGENOMiHOG000233968
HOVERGENiHBG101090
InParanoidiP51157
KOiK07915
OMAiYKQTIGV
OrthoDBiEOG091G11JJ
PhylomeDBiP51157
TreeFamiTF313852

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
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

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform S (identifier: P51157-1) [UniParc]FASTAAdd to basket
Also known as: Rab28S

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSDSEEESQD RQLKIVVLGD GASGKTSLTT CFAQETFGKQ YKQTIGLDFF
60 70 80 90 100
LRRITLPGNL NVTLQIWDIG GQTIGGKMLD KYIYGAQGVL LVYDITNYQS
110 120 130 140 150
FENLEDWYTV VKKVSEESET QPLVALVGNK IDLEHMRTIK PEKHLRFCQE
160 170 180 190 200
NGFSSHFVSA KTGDSVFLCF QKVAAEILGI KLNKAEIEQS QRVVKADIVN
210 220
YNQEPMSRTV NPPRSSMCAV Q
Length:221
Mass (Da):24,841
Last modified:January 24, 2006 - v2
Checksum:i65AC9D6F10491916
GO
Isoform L (identifier: P51157-2) [UniParc]FASTAAdd to basket
Also known as: Rab28L

The sequence of this isoform differs from the canonical sequence as follows:
     193-221: VVKADIVNYNQEPMSRTVNPPRSSMCAVQ → IVRAEIVKYPEEENQHTTSTQSRICSVQ

Show »
Length:220
Mass (Da):24,853
Checksum:i693F137237519E71
GO
Isoform 3 (identifier: P51157-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     192-221: RVVKADIVNYNQEPMSRTVNPPRSSMCAVQ → GHFIIFISSTNRE

Note: No experimental confirmation available.
Show »
Length:204
Mass (Da):22,971
Checksum:i3533DB9E6E6FD456
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti22A → T in CAA64364 (PubMed:8647132).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045807192 – 221RVVKA…MCAVQ → GHFIIFISSTNRE in isoform 3. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_005530193 – 221VVKAD…MCAVQ → IVRAEIVKYPEEENQHTTST QSRICSVQ in isoform L. 2 PublicationsAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X94703 mRNA Translation: CAA64364.1
AF498955 mRNA Translation: AAM21103.1
AC006226 Genomic DNA No translation available.
AC006445 Genomic DNA No translation available.
AC020729 Genomic DNA No translation available.
BC035054 mRNA Translation: AAH35054.1
CX165950 mRNA No translation available.
CCDSiCCDS33961.1 [P51157-1]
CCDS3409.1 [P51157-2]
CCDS54741.1 [P51157-3]
PIRiS65477
S72399
RefSeqiNP_001017979.1, NM_001017979.2 [P51157-1]
NP_001153073.1, NM_001159601.1 [P51157-3]
NP_004240.2, NM_004249.3 [P51157-2]
UniGeneiHs.656060
Hs.677409

Genome annotation databases

EnsembliENST00000288723; ENSP00000288723; ENSG00000157869 [P51157-2]
ENST00000330852; ENSP00000328551; ENSG00000157869 [P51157-1]
ENST00000338176; ENSP00000340079; ENSG00000157869 [P51157-3]
GeneIDi9364
KEGGihsa:9364
UCSCiuc003gmt.3 human [P51157-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRAB28_HUMAN
AccessioniPrimary (citable) accession number: P51157
Secondary accession number(s): G8JLC5, Q8IYR8, Q8NI05
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 24, 2006
Last modified: July 18, 2018
This is version 170 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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

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