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Protein

Rab-like protein 2A

Gene

RABL2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi28 – 358GTPBy similarity
Nucleotide bindingi76 – 805GTPBy similarity
Nucleotide bindingi133 – 1364GTPBy similarity

GO - Molecular functioni

  1. GTPase activity Source: ProtInc
  2. GTP binding Source: UniProtKB-KW

GO - Biological processi

  1. intracellular protein transport Source: GO_Central
  2. metabolic process Source: GOC
  3. Rab protein signal transduction Source: GO_Central
Complete GO annotation...

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Rab-like protein 2A
Gene namesi
Name:RABL2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:9799. RABL2A.

Subcellular locationi

GO - Cellular componenti

  1. endomembrane system Source: GO_Central
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34159.

Polymorphism and mutation databases

BioMutaiRABL2A.
DMDMi12643870.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 228228Rab-like protein 2APRO_0000121263Add
BLAST

Proteomic databases

MaxQBiQ9UBK7.
PaxDbiQ9UBK7.
PRIDEiQ9UBK7.

PTM databases

PhosphoSiteiQ9UBK7.

Expressioni

Tissue specificityi

Expressed in the testis.1 Publication

Gene expression databases

BgeeiQ9UBK7.
CleanExiHS_RABL2A.
ExpressionAtlasiQ9UBK7. baseline and differential.
GenevestigatoriQ9UBK7.

Organism-specific databases

HPAiHPA042642.
HPA042700.
HPA042765.
HPA044007.

Interactioni

Subunit structurei

Interacts with ITF27, ITF81, ITF172, ATP6V1E1, HK1, LDHC, MAPRE1 and HSPA2.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP19Q96LK03EBI-4402837,EBI-741885

Protein-protein interaction databases

BioGridi116330. 16 interactions.
IntActiQ9UBK7. 1 interaction.
STRINGi9606.ENSP00000376871.

Structurei

3D structure databases

ProteinModelPortaliQ9UBK7.
SMRiQ9UBK7. Positions 23-182.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiCOG1100.
GeneTreeiENSGT00760000119125.
HOGENOMiHOG000233971.
HOVERGENiHBG106536.
InParanoidiQ9UBK7.
KOiK07931.
OMAiMAIMAGM.
OrthoDBiEOG7GN2NW.
PhylomeDBiQ9UBK7.
TreeFamiTF329398.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
PRINTSiPR00449. RASTRNSFRMNG.
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9UBK7-1) [UniParc]FASTAAdd to basket

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
MAEDKTKPSE LDQGKYDADD NVKIICLGDS AVGKSKLMER FLMDGFQPQQ
60 70 80 90 100
LSTYALTLYK HTATVDGKTI LVDFWDTAGQ ERFQSMHASY YHKAHACIMV
110 120 130 140 150
FDIQRKVTYR NLSTWYTELR EFRPEIPCIV VANKIDDINV TQKSFNFAKK
160 170 180 190 200
FSLPLYFVSA ADGTNVVKLF NDAIRLAVSY KQNSQDFMDE IFQELENFSL
210 220
EQEEEDVPDQ EQSSSIETPS EEVASPHS
Length:228
Mass (Da):26,115
Last modified:May 1, 2000 - v1
Checksum:i96947DD254886B3C
GO
Isoform 2 (identifier: Q9UBK7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     136-136: D → DA

Note: No experimental confirmation available.

Show »
Length:229
Mass (Da):26,186
Checksum:i20148DE39EC474A5
GO
Isoform 3 (identifier: Q9UBK7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     168-168: K → KVWLTAEVASK

Show »
Length:238
Mass (Da):27,201
Checksum:i974E9EE00BCE3854
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei136 – 1361D → DA in isoform 2. CuratedVSP_005531
Alternative sequencei168 – 1681K → KVWLTAEVASK in isoform 3. CuratedVSP_041060

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF095350 mRNA. Translation: AAD51377.1.
AF095351 mRNA. Translation: AAD51378.1.
AL078621 Genomic DNA. Translation: CAX11909.1.
CCDSiCCDS2118.1. [Q9UBK7-1]
RefSeqiNP_009013.1. NM_007082.3. [Q9UBK7-1]
NP_038198.1. NM_013412.2. [Q9UBK7-1]
XP_006712275.1. XM_006712212.2. [Q9UBK7-3]
XP_006712280.1. XM_006712217.2. [Q9UBK7-1]
UniGeneiHs.446425.

Genome annotation databases

EnsembliENST00000393165; ENSP00000376870; ENSG00000144134. [Q9UBK7-2]
ENST00000393166; ENSP00000376871; ENSG00000144134. [Q9UBK7-1]
ENST00000393167; ENSP00000376872; ENSG00000144134. [Q9UBK7-1]
ENST00000409875; ENSP00000387229; ENSG00000144134. [Q9UBK7-3]
GeneIDi11159.
KEGGihsa:11159.
UCSCiuc002tkn.4. human. [Q9UBK7-1]

Polymorphism and mutation databases

BioMutaiRABL2A.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF095350 mRNA. Translation: AAD51377.1.
AF095351 mRNA. Translation: AAD51378.1.
AL078621 Genomic DNA. Translation: CAX11909.1.
CCDSiCCDS2118.1. [Q9UBK7-1]
RefSeqiNP_009013.1. NM_007082.3. [Q9UBK7-1]
NP_038198.1. NM_013412.2. [Q9UBK7-1]
XP_006712275.1. XM_006712212.2. [Q9UBK7-3]
XP_006712280.1. XM_006712217.2. [Q9UBK7-1]
UniGeneiHs.446425.

3D structure databases

ProteinModelPortaliQ9UBK7.
SMRiQ9UBK7. Positions 23-182.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116330. 16 interactions.
IntActiQ9UBK7. 1 interaction.
STRINGi9606.ENSP00000376871.

PTM databases

PhosphoSiteiQ9UBK7.

Polymorphism and mutation databases

BioMutaiRABL2A.
DMDMi12643870.

Proteomic databases

MaxQBiQ9UBK7.
PaxDbiQ9UBK7.
PRIDEiQ9UBK7.

Protocols and materials databases

DNASUi11159.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393165; ENSP00000376870; ENSG00000144134. [Q9UBK7-2]
ENST00000393166; ENSP00000376871; ENSG00000144134. [Q9UBK7-1]
ENST00000393167; ENSP00000376872; ENSG00000144134. [Q9UBK7-1]
ENST00000409875; ENSP00000387229; ENSG00000144134. [Q9UBK7-3]
GeneIDi11159.
KEGGihsa:11159.
UCSCiuc002tkn.4. human. [Q9UBK7-1]

Organism-specific databases

CTDi11159.
GeneCardsiGC02P114384.
HGNCiHGNC:9799. RABL2A.
HPAiHPA042642.
HPA042700.
HPA042765.
HPA044007.
MIMi605412. gene.
neXtProtiNX_Q9UBK7.
PharmGKBiPA34159.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1100.
GeneTreeiENSGT00760000119125.
HOGENOMiHOG000233971.
HOVERGENiHBG106536.
InParanoidiQ9UBK7.
KOiK07931.
OMAiMAIMAGM.
OrthoDBiEOG7GN2NW.
PhylomeDBiQ9UBK7.
TreeFamiTF329398.

Miscellaneous databases

GenomeRNAii11159.
NextBioi42445.
PROiQ9UBK7.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UBK7.
CleanExiHS_RABL2A.
ExpressionAtlasiQ9UBK7. baseline and differential.
GenevestigatoriQ9UBK7.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
PRINTSiPR00449. RASTRNSFRMNG.
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13."
    Wong A.C., Shkolny D., Dorman A., Willingham D., Roe B.A., McDermid H.E.
    Genomics 59:326-334(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "RAB-like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly."
    Lo J.C., Jamsai D., O'Connor A.E., Borg C., Clark B.J., Whisstock J.C., Field M.C., Adams V., Ishikawa T., Aitken R.J., Whittle B., Goodnow C.C., Ormandy C.J., O'Bryan M.K.
    PLoS Genet. 8:E1002969-E1002969(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiRBL2A_HUMAN
AccessioniPrimary (citable) accession number: Q9UBK7
Secondary accession number(s): B7ZBD6, Q9NU37
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: April 29, 2015
This is version 120 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 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.