P0C0E4 (RB40L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ras-related protein Rab-40A-like

Alternative name(s):
Ras-like GTPase

Gene names

Name:	RAB40AL
Synonyms:	RLGP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	278 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	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.
Pathway	Protein modification; protein ubiquitination.
Subcellular location	Cell membrane; Lipid-anchor; Cytoplasmic side Potential. Mitochondrion Ref.1.
Tissue specificity	Expressed in brain, heart, skeletal muscle, kidney and liver. Highest expression in brain. Ref.1
Domain	The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes By similarity.
Sequence similarities	Belongs to the small GTPase superfamily. Rab family. Contains 1 SOCS box domain.

Ontologies

Keywords
Biological process	Ubl conjugation pathway
Cellular component	Cell membrane Membrane Mitochondrion
Ligand	GTP-binding Nucleotide-binding
PTM	Lipoprotein Palmitate Prenylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	protein transport Inferred from electronic annotation. Source: InterPro small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	GTP binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 278	278	Ras-related protein Rab-40A-like		PRO_0000121258
Regions
	Domain	175 – 228	54	SOCS box
	Nucleotide binding	21 – 28	8	GTP By similarity
	Nucleotide binding	69 – 73	5	GTP By similarity
	Nucleotide binding	126 – 129	4	GTP By similarity
Amino acid modifications
	Lipidation	270	1	S-palmitoyl cysteine Potential
	Lipidation	275	1	S-geranylgeranyl cysteine By similarity

Sequences

	Sequence		Length	Mass (Da)
	P0C0E4 [UniParc]. Last modified September 13, 2005. Version 1. Checksum: DF047F1703217DA4	FASTA	278	31,239
	10 20 30 40 50 60 MSAPGSPDQA YDFLLKFLLV GDRDVGKSEI LESLQDGTAE SPYSHLGGID YKTTTILLDG 70 80 90 100 110 120 QRVKLKLWDT SGQGRFCTIF RSYSRGAQGV ILVYDIANRW SFEGMDRWIK KIEEHAPGVP 130 140 150 160 170 180 KILVGNRLHL AFKRQVPREQ AQAYAERLGV TFFEVSPLCN FNIIESFTEL ARIVLLRHRL 190 200 210 220 230 240 NWLGRPSKVL SLQDLCCRTI VSCTPVHLVD KLPLPIALRS HLKSFSMAKG LNARMMRGLS 250 260 270 YSLTTSSTHK RSSLCKVKIV CPPQSPPKNC TRNSCKIS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation." Saito-Ohara F., Fukuda Y., Ito M., Agarwala K.L., Hayashi M., Matsuo M., Imoto I., Yamakawa K., Nakamura Y., Inazawa J. Am. J. Hum. Genet. 71:637-645(2002) [PubMed: 12145744] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00555763.
RefSeq	NP_001027004.1. NM_001031834.1.
UniGene	Hs.449517.
3D structure databases
ProteinModelPortal	P0C0E4.
SMR	P0C0E4. Positions 12-178.
ModBase	Search...
Polymorphism databases
DMDM	83287760.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000218249; ENSP00000218249; ENSG00000102128.
GeneID	282808.
KEGG	hsa:282808.
UCSC	uc004ejs.1. human.
Organism-specific databases
CTD	282808.
GeneCards	GC0XP102192.
H-InvDB	HIX0056503.
HGNC	HGNC:25410. RAB40AL.
MIM	300405. gene.
neXtProt	NX_P0C0E4.
PharmGKB	PA142671103.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11137.
GeneTree	ENSGT00600000084072.
HOGENOM	HBG745225.
HOVERGEN	HBG009351.
InParanoid	P0C0E4.
OMA	LRHRLNW.
OrthoDB	EOG45QHDR.
PhylomeDB	P0C0E4.
Gene expression databases
ArrayExpress	P0C0E4.
Bgee	P0C0E4.
CleanEx	HS_RAB40AL.
Genevestigator	P0C0E4.
GermOnline	ENSG00000102128. Homo sapiens.
Family and domain databases
InterPro	IPR005225. Small_GTP-bd_dom. IPR001806. Small_GTPase. IPR003579. Small_GTPase_Rab_type. IPR001496. SOCS_C. [Graphical view]
KO	K07928.
Pfam	PF00071. Ras. 1 hit. PF07525. SOCS_box. 1 hit. [Graphical view]
PRINTS	PR00449. RASTRNSFRMNG.
SMART	SM00175. RAB. 1 hit. SM00253. SOCS. 1 hit. SM00969. SOCS_box. 1 hit. [Graphical view]
TIGRFAMs	TIGR00231. Small_GTP. 1 hit.
PROSITE	PS51419. RAB. 1 hit. PS50225. SOCS. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	93520.
SOURCE	Search...

Entry information

Entry name

RB40L_HUMAN

Accession

Primary (citable) accession number: P0C0E4
Secondary accession number(s): Q495H3

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 13, 2005
Last sequence update:	September 13, 2005
Last modified:	January 25, 2012
This is version 72 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.