RBL2A_HUMAN
ID RBL2A_HUMAN Reviewed; 228 AA.
AC Q9UBK7; B7ZBD6; Q9NU37;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Rab-like protein 2A;
GN Name=RABL2A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=10444334; DOI=10.1006/geno.1999.5889;
RA Wong A.C., Shkolny D., Dorman A., Willingham D., Roe B.A., McDermid H.E.;
RT "Two novel human RAB genes with near identical sequence each map to a
RT telomere-associated region: the subtelomeric region of 22q13.3 and the
RT ancestral telomere band 2q13.";
RL Genomics 59:326-334(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP TISSUE SPECIFICITY.
RX PubMed=23055941; DOI=10.1371/journal.pgen.1002969;
RA Lo J.C., Jamsai D., O'Connor A.E., Borg C., Clark B.J., Whisstock J.C.,
RA Field M.C., Adams V., Ishikawa T., Aitken R.J., Whittle B., Goodnow C.C.,
RA Ormandy C.J., O'Bryan M.K.;
RT "RAB-like 2 has an essential role in male fertility, sperm intra-flagellar
RT transport, and tail assembly.";
RL PLoS Genet. 8:E1002969-E1002969(2012).
CC -!- FUNCTION: Plays an essential role in male fertility, sperm intra-
CC flagellar transport, and tail assembly. Binds, in a GTP-regulated
CC manner, to a specific set of effector proteins including key proteins
CC involved in cilia development and function and delivers them into the
CC growing sperm tail. {ECO:0000250|UniProtKB:E9Q9D5}.
CC -!- SUBUNIT: Interacts with IFT27, IFT81, IFT172, ATP6V1E1, HK1, LDHC,
CC MAPRE1 and HSPA2. {ECO:0000250|UniProtKB:E9Q9D5}.
CC -!- INTERACTION:
CC Q9UBK7-2; Q96LK0: CEP19; NbExp=6; IntAct=EBI-4402837, EBI-741885;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9UBK7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UBK7-2; Sequence=VSP_005531;
CC Name=3;
CC IsoId=Q9UBK7-3; Sequence=VSP_041060;
CC -!- TISSUE SPECIFICITY: Expressed in the testis.
CC {ECO:0000269|PubMed:23055941}.
CC -!- SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
CC {ECO:0000305}.
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DR EMBL; AF095350; AAD51377.1; -; mRNA.
DR EMBL; AF095351; AAD51378.1; -; mRNA.
DR EMBL; AL078621; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS2118.1; -. [Q9UBK7-1]
DR CCDS; CCDS77454.1; -. [Q9UBK7-2]
DR CCDS; CCDS77455.1; -. [Q9UBK7-3]
DR RefSeq; NP_001293089.1; NM_001306160.1. [Q9UBK7-3]
DR RefSeq; NP_009013.1; NM_007082.4. [Q9UBK7-1]
DR RefSeq; NP_038198.1; NM_013412.3. [Q9UBK7-1]
DR RefSeq; XP_016858697.1; XM_017003208.1.
DR RefSeq; XP_016858698.1; XM_017003209.1.
DR RefSeq; XP_016858709.1; XM_017003220.1. [Q9UBK7-1]
DR RefSeq; XP_016858710.1; XM_017003221.1.
DR RefSeq; XP_016858711.1; XM_017003222.1. [Q9UBK7-1]
DR AlphaFoldDB; Q9UBK7; -.
DR SMR; Q9UBK7; -.
DR BioGRID; 116330; 33.
DR IntAct; Q9UBK7; 2.
DR STRING; 9606.ENSP00000376872; -.
DR iPTMnet; Q9UBK7; -.
DR PhosphoSitePlus; Q9UBK7; -.
DR BioMuta; RABL2A; -.
DR DMDM; 12643870; -.
DR EPD; Q9UBK7; -.
DR jPOST; Q9UBK7; -.
DR MassIVE; Q9UBK7; -.
DR MaxQB; Q9UBK7; -.
DR PaxDb; Q9UBK7; -.
DR PeptideAtlas; Q9UBK7; -.
DR PRIDE; Q9UBK7; -.
DR ProteomicsDB; 83981; -. [Q9UBK7-1]
DR ProteomicsDB; 83982; -. [Q9UBK7-2]
DR ProteomicsDB; 83983; -. [Q9UBK7-3]
DR Antibodypedia; 47553; 216 antibodies from 23 providers.
DR DNASU; 11159; -.
DR Ensembl; ENST00000393165.7; ENSP00000376870.3; ENSG00000144134.19. [Q9UBK7-2]
DR Ensembl; ENST00000393166.7; ENSP00000376871.3; ENSG00000144134.19. [Q9UBK7-1]
DR Ensembl; ENST00000393167.7; ENSP00000376872.3; ENSG00000144134.19. [Q9UBK7-1]
DR Ensembl; ENST00000409875.5; ENSP00000387229.1; ENSG00000144134.19. [Q9UBK7-3]
DR Ensembl; ENST00000683472.1; ENSP00000507832.1; ENSG00000144134.19. [Q9UBK7-2]
DR GeneID; 11159; -.
DR KEGG; hsa:11159; -.
DR MANE-Select; ENST00000683472.1; ENSP00000507832.1; NM_001306158.2; NP_001293087.1. [Q9UBK7-2]
DR UCSC; uc002tkn.5; human. [Q9UBK7-1]
DR CTD; 11159; -.
DR DisGeNET; 11159; -.
DR GeneCards; RABL2A; -.
DR HGNC; HGNC:9799; RABL2A.
DR HPA; ENSG00000144134; Tissue enhanced (fallopian).
DR MIM; 605412; gene.
DR neXtProt; NX_Q9UBK7; -.
DR OpenTargets; ENSG00000144134; -.
DR PharmGKB; PA34159; -.
DR VEuPathDB; HostDB:ENSG00000144134; -.
DR eggNOG; KOG0087; Eukaryota.
DR GeneTree; ENSGT00940000156551; -.
DR HOGENOM; CLU_041217_13_1_1; -.
DR InParanoid; Q9UBK7; -.
DR OMA; ANTDLHR; -.
DR OrthoDB; 1340129at2759; -.
DR PhylomeDB; Q9UBK7; -.
DR TreeFam; TF329398; -.
DR PathwayCommons; Q9UBK7; -.
DR SignaLink; Q9UBK7; -.
DR BioGRID-ORCS; 11159; 218 hits in 992 CRISPR screens.
DR ChiTaRS; RABL2A; human.
DR GenomeRNAi; 11159; -.
DR Pharos; Q9UBK7; Tbio.
DR PRO; PR:Q9UBK7; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9UBK7; protein.
DR Bgee; ENSG00000144134; Expressed in right uterine tube and 93 other tissues.
DR ExpressionAtlas; Q9UBK7; baseline and differential.
DR Genevisible; Q9UBK7; HS.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0003924; F:GTPase activity; IBA:GO_Central.
DR GO; GO:0006886; P:intracellular protein transport; IBA:GO_Central.
DR CDD; cd04124; RabL2; 1.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR041835; RabL2.
DR InterPro; IPR005225; Small_GTP-bd_dom.
DR InterPro; IPR001806; Small_GTPase.
DR Pfam; PF00071; Ras; 1.
DR SMART; SM00174; RHO; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR TIGRFAMs; TIGR00231; small_GTP; 1.
DR PROSITE; PS51419; RAB; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; GTP-binding; Nucleotide-binding; Reference proteome.
FT CHAIN 1..228
FT /note="Rab-like protein 2A"
FT /id="PRO_0000121263"
FT REGION 200..228
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 212..228
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 28..35
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 76..80
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 133..136
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT VAR_SEQ 136
FT /note="D -> DA (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_005531"
FT VAR_SEQ 168
FT /note="K -> KVWLTAEVASK (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_041060"
SQ SEQUENCE 228 AA; 26115 MW; 96947DD254886B3C CRC64;
MAEDKTKPSE LDQGKYDADD NVKIICLGDS AVGKSKLMER FLMDGFQPQQ LSTYALTLYK
HTATVDGKTI LVDFWDTAGQ ERFQSMHASY YHKAHACIMV FDIQRKVTYR NLSTWYTELR
EFRPEIPCIV VANKIDDINV TQKSFNFAKK FSLPLYFVSA ADGTNVVKLF NDAIRLAVSY
KQNSQDFMDE IFQELENFSL EQEEEDVPDQ EQSSSIETPS EEVASPHS
