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Q9UBK7

- RBL2A_HUMAN

UniProt

Q9UBK7 - RBL2A_HUMAN

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Protein
Rab-like protein 2A
Gene
RABL2A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript 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.

Regions

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

GO - Molecular functioni

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

GO - Biological processi

  1. GTP catabolic process Source: GOC
  2. small GTPase mediated signal transduction Source: InterPro
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: Chromosome 2

Organism-specific databases

HGNCiHGNC:9799. RABL2A.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34159.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 228228Rab-like protein 2A
PRO_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.
GenevestigatoriQ9UBK7.

Organism-specific databases

HPAiHPA042642.
HPA042700.
HPA042765.
HPA044007.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi116330. 7 interactions.
STRINGi9606.ENSP00000376871.

Structurei

3D structure databases

ProteinModelPortaliQ9UBK7.
SMRiQ9UBK7. Positions 23-182.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1100.
HOGENOMiHOG000233971.
HOVERGENiHBG106536.
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. Align

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

MAEDKTKPSE LDQGKYDADD NVKIICLGDS AVGKSKLMER FLMDGFQPQQ    50
LSTYALTLYK HTATVDGKTI LVDFWDTAGQ ERFQSMHASY YHKAHACIMV 100
FDIQRKVTYR NLSTWYTELR EFRPEIPCIV VANKIDDINV TQKSFNFAKK 150
FSLPLYFVSA ADGTNVVKLF NDAIRLAVSY KQNSQDFMDE IFQELENFSL 200
EQEEEDVPDQ EQSSSIETPS EEVASPHS 228
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.
VSP_005531
Alternative sequencei168 – 1681K → KVWLTAEVASK in isoform 3.
VSP_041060

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006712212.1. [Q9UBK7-3]
XP_006712280.1. XM_006712217.1. [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 databases

DMDMi12643870.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF095350 mRNA. Translation: AAD51377.1 .
AF095351 mRNA. Translation: AAD51378.1 .
AL078621 Genomic DNA. Translation: CAX11909.1 .
CCDSi CCDS2118.1. [Q9UBK7-1 ]
RefSeqi NP_009013.1. NM_007082.3. [Q9UBK7-1 ]
NP_038198.1. NM_013412.2. [Q9UBK7-1 ]
XP_006712275.1. XM_006712212.1. [Q9UBK7-3 ]
XP_006712280.1. XM_006712217.1. [Q9UBK7-1 ]
UniGenei Hs.446425.

3D structure databases

ProteinModelPortali Q9UBK7.
SMRi Q9UBK7. Positions 23-182.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116330. 7 interactions.
STRINGi 9606.ENSP00000376871.

PTM databases

PhosphoSitei Q9UBK7.

Polymorphism databases

DMDMi 12643870.

Proteomic databases

MaxQBi Q9UBK7.
PaxDbi Q9UBK7.
PRIDEi Q9UBK7.

Protocols and materials databases

DNASUi 11159.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000393165 ; ENSP00000376870 ; ENSG00000144134 . [Q9UBK7-2 ]
ENST00000393166 ; ENSP00000376871 ; ENSG00000144134 . [Q9UBK7-1 ]
ENST00000393167 ; ENSP00000376872 ; ENSG00000144134 . [Q9UBK7-1 ]
ENST00000409875 ; ENSP00000387229 ; ENSG00000144134 . [Q9UBK7-3 ]
GeneIDi 11159.
KEGGi hsa:11159.
UCSCi uc002tkn.4. human. [Q9UBK7-1 ]

Organism-specific databases

CTDi 11159.
GeneCardsi GC02P114384.
HGNCi HGNC:9799. RABL2A.
HPAi HPA042642.
HPA042700.
HPA042765.
HPA044007.
MIMi 605412. gene.
neXtProti NX_Q9UBK7.
PharmGKBi PA34159.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1100.
HOGENOMi HOG000233971.
HOVERGENi HBG106536.
KOi K07931.
OMAi MAIMAGM.
OrthoDBi EOG7GN2NW.
PhylomeDBi Q9UBK7.
TreeFami TF329398.

Miscellaneous databases

GenomeRNAii 11159.
NextBioi 42445.
PROi Q9UBK7.
SOURCEi Search...

Gene expression databases

Bgeei Q9UBK7.
CleanExi HS_RABL2A.
Genevestigatori Q9UBK7.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view ]
Pfami PF00071. Ras. 1 hit.
[Graphical view ]
PRINTSi PR00449. RASTRNSFRMNG.
SUPFAMi SSF52540. SSF52540. 1 hit.
TIGRFAMsi TIGR00231. small_GTP. 1 hit.
PROSITEi PS51419. RAB. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 114 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

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