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Q9UBK7

- RBL2A_HUMAN

UniProt

Q9UBK7 - RBL2A_HUMAN

Protein

Rab-like protein 2A

Gene

RABL2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    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. GTP catabolic process Source: GOC
    2. small GTPase mediated signal transduction Source: InterPro

    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 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.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the small GTPase superfamily. Rab family.Curated

    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. CuratedVSP_005531
    Alternative sequencei168 – 1681K → KVWLTAEVASK in isoform 3. CuratedVSP_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

    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: October 1, 2014
    This is version 115 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