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Protein

Ras-related protein Rab-40A-like

Gene

RAB40AL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi21 – 288GTPBy similarity
Nucleotide bindingi69 – 735GTPBy similarity
Nucleotide bindingi126 – 1294GTPBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Keywords - Ligandi

GTP-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

HGNCiHGNC:25410. RAB40AL.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • membrane Source: UniProtKB-SubCell
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591D → G in MRXSMP; renders the protein unstable and disrupts its cytoplasmic localization. 1 Publication
Corresponds to variant rs145606134 [ dbSNP | Ensembl ].
VAR_068916

Keywords - Diseasei

Deafness, Disease mutation, Mental retardation

Organism-specific databases

MalaCardsiRAB40AL.
MIMi300519. phenotype.
PharmGKBiPA142671103.

Polymorphism and mutation databases

BioMutaiRAB40AL.
DMDMi83287760.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 278278Ras-related protein Rab-40A-likePRO_0000121258Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi270 – 2701S-palmitoyl cysteineSequence analysis
Lipidationi275 – 2751S-geranylgeranyl cysteineBy similarity

Keywords - PTMi

Lipoprotein, Palmitate, Prenylation

Proteomic databases

PaxDbiP0C0E4.
PRIDEiP0C0E4.

PTM databases

iPTMnetiP0C0E4.
PhosphoSiteiP0C0E4.

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.

Organism-specific databases

HPAiCAB010065.

Interactioni

Protein-protein interaction databases

BioGridi129420. 11 interactions.
STRINGi9606.ENSP00000218249.

Structurei

3D structure databases

ProteinModelPortaliP0C0E4.
SMRiP0C0E4. Positions 12-172.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini175 – 22854SOCS boxPROSITE-ProRule annotationAdd
BLAST

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
Contains 1 SOCS box domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0078. Eukaryota.
ENOG410XPUI. LUCA.
GeneTreeiENSGT00840000129698.
HOGENOMiHOG000233967.
HOVERGENiHBG009351.
InParanoidiP0C0E4.
KOiK07928.
OMAiSTHNRNS.
OrthoDBiEOG091G0DGV.
PhylomeDBiP0C0E4.
TreeFamiTF323230.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR001496. SOCS_box.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
PF07525. SOCS_box. 1 hit.
[Graphical view]
SMARTiSM00253. SOCS. 1 hit.
SM00969. SOCS_box. 1 hit.
[Graphical view]
SUPFAMiSSF158235. SSF158235. 1 hit.
SSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
PS50225. SOCS. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591D → G in MRXSMP; renders the protein unstable and disrupts its cytoplasmic localization. 1 Publication
Corresponds to variant rs145606134 [ dbSNP | Ensembl ].
VAR_068916

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z95624 Genomic DNA. Translation: CAB09136.1.
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z95624 Genomic DNA. Translation: CAB09136.1.
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.

3D structure databases

ProteinModelPortaliP0C0E4.
SMRiP0C0E4. Positions 12-172.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129420. 11 interactions.
STRINGi9606.ENSP00000218249.

PTM databases

iPTMnetiP0C0E4.
PhosphoSiteiP0C0E4.

Polymorphism and mutation databases

BioMutaiRAB40AL.
DMDMi83287760.

Proteomic databases

PaxDbiP0C0E4.
PRIDEiP0C0E4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi282808.
GeneCardsiRAB40AL.
HGNCiHGNC:25410. RAB40AL.
HPAiCAB010065.
MalaCardsiRAB40AL.
MIMi300405. gene.
300519. phenotype.
neXtProtiNX_P0C0E4.
PharmGKBiPA142671103.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0078. Eukaryota.
ENOG410XPUI. LUCA.
GeneTreeiENSGT00840000129698.
HOGENOMiHOG000233967.
HOVERGENiHBG009351.
InParanoidiP0C0E4.
KOiK07928.
OMAiSTHNRNS.
OrthoDBiEOG091G0DGV.
PhylomeDBiP0C0E4.
TreeFamiTF323230.

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

GenomeRNAii282808.
PROiP0C0E4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102128.
CleanExiHS_RAB40AL.
GenevisibleiP0C0E4. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR001496. SOCS_box.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
PF07525. SOCS_box. 1 hit.
[Graphical view]
SMARTiSM00253. SOCS. 1 hit.
SM00969. SOCS_box. 1 hit.
[Graphical view]
SUPFAMiSSF158235. SSF158235. 1 hit.
SSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
PS50225. SOCS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRB40L_HUMAN
AccessioniPrimary (citable) accession number: P0C0E4
Secondary accession number(s): Q495H3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: September 13, 2005
Last modified: September 7, 2016
This is version 118 of the entry and version 1 of the sequence. [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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.