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Q9UBK7 (RBL2A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rab-like protein 2A
Gene names
Name:RABL2A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length228 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Tissue specificity

Expressed in the testis. Ref.3

Sequence similarities

Belongs to the small GTPase superfamily. Rab family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UBK7-1)

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.
Isoform 2 (identifier: Q9UBK7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     136-136: D → DA
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9UBK7-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 228228Rab-like protein 2A
PRO_0000121263

Regions

Nucleotide binding28 – 358GTP By similarity
Nucleotide binding76 – 805GTP By similarity
Nucleotide binding133 – 1364GTP By similarity

Natural variations

Alternative sequence1361D → DA in isoform 2.
VSP_005531
Alternative sequence1681K → KVWLTAEVASK in isoform 3.
VSP_041060

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 96947DD254886B3C

FASTA22826,115
        10         20         30         40         50         60 
MAEDKTKPSE LDQGKYDADD NVKIICLGDS AVGKSKLMER FLMDGFQPQQ LSTYALTLYK 

        70         80         90        100        110        120 
HTATVDGKTI LVDFWDTAGQ ERFQSMHASY YHKAHACIMV FDIQRKVTYR NLSTWYTELR 

       130        140        150        160        170        180 
EFRPEIPCIV VANKIDDINV TQKSFNFAKK FSLPLYFVSA ADGTNVVKLF NDAIRLAVSY 

       190        200        210        220 
KQNSQDFMDE IFQELENFSL EQEEEDVPDQ EQSSSIETPS EEVASPHS 

« Hide

Isoform 2 [UniParc].

Checksum: 20148DE39EC474A5
Show »

FASTA22926,186
Isoform 3 [UniParc].

Checksum: 974E9EE00BCE3854
Show »

FASTA23827,201

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF095350 mRNA. Translation: AAD51377.1.
AF095351 mRNA. Translation: AAD51378.1.
AL078621 Genomic DNA. Translation: CAX11909.1.
RefSeqNP_009013.1. NM_007082.3.
NP_038198.1. NM_013412.2.
UniGeneHs.446425.

3D structure databases

ProteinModelPortalQ9UBK7.
SMRQ9UBK7. Positions 23-182.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116330. 7 interactions.
STRING9606.ENSP00000376871.

PTM databases

PhosphoSiteQ9UBK7.

Polymorphism databases

DMDM12643870.

Proteomic databases

PaxDbQ9UBK7.
PRIDEQ9UBK7.

Protocols and materials databases

DNASU11159.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000393165; ENSP00000376870; ENSG00000144134. [Q9UBK7-2]
ENST00000393166; ENSP00000376871; ENSG00000144134. [Q9UBK7-1]
ENST00000393167; ENSP00000376872; ENSG00000144134. [Q9UBK7-1]
ENST00000409875; ENSP00000387229; ENSG00000144134. [Q9UBK7-3]
GeneID11159.
KEGGhsa:11159.
UCSCuc002tkn.4. human. [Q9UBK7-1]

Organism-specific databases

CTD11159.
GeneCardsGC02P114384.
HGNCHGNC:9799. RABL2A.
HPAHPA042642.
HPA042700.
HPA042765.
HPA044007.
MIM605412. gene.
neXtProtNX_Q9UBK7.
PharmGKBPA34159.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1100.
HOGENOMHOG000233971.
HOVERGENHBG106536.
KOK07931.
OMAMAIMAGM.
OrthoDBEOG7GN2NW.
PhylomeDBQ9UBK7.
TreeFamTF329398.

Gene expression databases

BgeeQ9UBK7.
CleanExHS_RABL2A.
GenevestigatorQ9UBK7.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamPF00071. Ras. 1 hit.
[Graphical view]
PRINTSPR00449. RASTRNSFRMNG.
SUPFAMSSF52540. SSF52540. 1 hit.
TIGRFAMsTIGR00231. small_GTP. 1 hit.
PROSITEPS51419. RAB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi11159.
NextBio42445.
PROQ9UBK7.
SOURCESearch...

Entry information

Entry nameRBL2A_HUMAN
AccessionPrimary (citable) accession number: Q9UBK7
Secondary accession number(s): B7ZBD6, Q9NU37
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM