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Protein

Ras-related protein Rab-40A-like

Gene

RAB40AL

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

Functioni

May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.By similarity

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi21 – 28GTPBy similarity8
Nucleotide bindingi69 – 73GTPBy similarity5
Nucleotide bindingi126 – 129GTPBy similarity4

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processUbl conjugation pathway
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

UniPathwayiUPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-40A-like
Alternative name(s):
Ras-like GTPase
Gene namesi
Name:RAB40AL
Synonyms:RLGP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102128.7
HGNCiHGNC:25410 RAB40AL
MIMi300405 gene
neXtProtiNX_P0C0E4

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

Cytoplasm, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:300519
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06891659D → G in MRXSMP; renders the protein unstable and disrupts its cytoplasmic localization. 1 PublicationCorresponds to variant dbSNP:rs145606134EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi282808
MalaCardsiRAB40AL
MIMi300519 phenotype
OpenTargetsiENSG00000102128
PharmGKBiPA142671103

Polymorphism and mutation databases

BioMutaiRAB40AL
DMDMi83287760

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001212581 – 278Ras-related protein Rab-40A-likeAdd BLAST278

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi270S-palmitoyl cysteineSequence analysis1
Lipidationi275S-geranylgeranyl cysteineBy similarity1

Keywords - PTMi

Lipoprotein, Palmitate, Prenylation

Proteomic databases

PaxDbiP0C0E4
PRIDEiP0C0E4
ProteomicsDBi52291

PTM databases

iPTMnetiP0C0E4
PhosphoSitePlusiP0C0E4

Expressioni

Tissue specificityi

Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain. Expressed in fetal brain and kidney.2 Publications

Gene expression databases

BgeeiENSG00000102128
CleanExiHS_RAB40AL
GenevisibleiP0C0E4 HS

Interactioni

Protein-protein interaction databases

BioGridi129420, 13 interactors
STRINGi9606.ENSP00000218249

Structurei

3D structure databases

ProteinModelPortaliP0C0E4
SMRiP0C0E4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini175 – 228SOCS boxPROSITE-ProRule annotationAdd BLAST54

Domaini

The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.By similarity

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiKOG0078 Eukaryota
ENOG410XPUI LUCA
GeneTreeiENSGT00900000140786
HOGENOMiHOG000233967
HOVERGENiHBG009351
InParanoidiP0C0E4
KOiK07928
OMAiKNSMTFF
OrthoDBiEOG091G0DGV
PhylomeDBiP0C0E4
TreeFamiTF323230

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
IPR001496 SOCS_box
IPR036036 SOCS_box-like_dom_sf
PfamiView protein in Pfam
PF00071 Ras, 1 hit
PF07525 SOCS_box, 1 hit
SMARTiView protein in SMART
SM00253 SOCS, 1 hit
SM00969 SOCS_box, 1 hit
SUPFAMiSSF158235 SSF158235, 1 hit
SSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit
PS50225 SOCS, 1 hit

Sequencei

Sequence statusi: Complete.

P0C0E4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSAPGSPDQA YDFLLKFLLV GDRDVGKSEI LESLQDGTAE SPYSHLGGID
60 70 80 90 100
YKTTTILLDG QRVKLKLWDT SGQGRFCTIF RSYSRGAQGV ILVYDIANRW
110 120 130 140 150
SFEGMDRWIK KIEEHAPGVP KILVGNRLHL AFKRQVPREQ AQAYAERLGV
160 170 180 190 200
TFFEVSPLCN FNIIESFTEL ARIVLLRHRL NWLGRPSKVL SLQDLCCRTI
210 220 230 240 250
VSCTPVHLVD KLPLPIALRS HLKSFSMAKG LNARMMRGLS YSLTTSSTHK
260 270
RSSLCKVKIV CPPQSPPKNC TRNSCKIS
Length:278
Mass (Da):31,239
Last modified:September 13, 2005 - v1
Checksum:iDF047F1703217DA4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06891659D → G in MRXSMP; renders the protein unstable and disrupts its cytoplasmic localization. 1 PublicationCorresponds to variant dbSNP:rs145606134EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z95624 Genomic DNA No translation available.
BC101169 mRNA Translation: AAI01170.1
BC101170 mRNA Translation: AAI01171.1
BC101171 mRNA Translation: AAI01172.1
BC101172 mRNA Translation: AAI01173.1
CCDSiCCDS35353.1
RefSeqiNP_001027004.1, NM_001031834.1
UniGeneiHs.449517

Genome annotation databases

EnsembliENST00000218249; ENSP00000218249; ENSG00000102128
GeneIDi282808
KEGGihsa:282808
UCSCiuc004ejs.4 human

Similar proteinsi

Entry informationi

Entry nameiRB40L_HUMAN
AccessioniPrimary (citable) accession number: P0C0E4
Secondary accession number(s): Q495H3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: September 13, 2005
Last modified: June 20, 2018
This is version 135 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

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