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Q3SXY8

- AR13B_HUMAN

UniProt

Q3SXY8 - AR13B_HUMAN

Protein

ADP-ribosylation factor-like protein 13B

Gene

ARL13B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 1 (11 Oct 2005)
      Previous versions | rss
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    Functioni

    Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidences are required to confirm these data.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi28 – 358GTPBy similarity
    Nucleotide bindingi71 – 755GTPBy similarity
    Nucleotide bindingi130 – 1334GTPBy similarity

    GO - Molecular functioni

    1. GTP binding Source: UniProtKB-KW
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. determination of left/right symmetry Source: Ensembl
    3. dorsal/ventral pattern formation Source: Ensembl
    4. formation of radial glial scaffolds Source: UniProtKB
    5. interneuron migration from the subpallium to the cortex Source: UniProtKB
    6. neural tube patterning Source: UniProtKB
    7. nonmotile primary cilium assembly Source: UniProtKB
    8. small GTPase mediated signal transduction Source: InterPro
    9. smoothened signaling pathway Source: UniProtKB

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ADP-ribosylation factor-like protein 13B
    Alternative name(s):
    ADP-ribosylation factor-like protein 2-like 1
    Short name:
    ARL2-like protein 1
    Gene namesi
    Name:ARL13B
    Synonyms:ARL2L1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:25419. ARL13B.

    Subcellular locationi

    Cell projectioncilium membrane 2 Publications; Lipid-anchor 2 Publications
    Note: Associates to the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone.

    GO - Cellular componenti

    1. ciliary membrane Source: UniProtKB
    2. cilium Source: UniProtKB
    3. intracellular Source: InterPro
    4. primary cilium Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Joubert syndrome 8 (JBTS8) [MIM:612291]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791R → Q in JBTS8; reduces binding to GTP. 1 Publication
    VAR_054371
    Natural varianti200 – 2001R → C in JBTS8. 1 Publication
    VAR_054372

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi35 – 351T → N: Does not affect localization to cilia. 1 Publication
    Mutagenesisi130 – 1301N → I: Does not affect localization to cilia. 1 Publication
    Mutagenesisi231 – 2311K → R: No effect. Abolishes sumoylation; when associated with R-270; R-275; R-276; R-279 and R-329. 1 Publication
    Mutagenesisi270 – 2701K → R: No effect. Abolishes sumoylation; when associated with R-231; R-275; R-276; R-279 and R-329. 1 Publication
    Mutagenesisi275 – 2751K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-276; R-279 and R-329. 1 Publication
    Mutagenesisi276 – 2761K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-279 and R-329. 1 Publication
    Mutagenesisi279 – 2791K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-329. 1 Publication
    Mutagenesisi329 – 3291K → R: Abolishes sumoylation. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-279. 1 Publication

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Joubert syndrome

    Organism-specific databases

    MIMi612291. phenotype.
    Orphaneti475. Joubert syndrome.
    PharmGKBiPA134975272.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 428428ADP-ribosylation factor-like protein 13BPRO_0000251137Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi8 – 81S-palmitoyl cysteineBy similarity
    Lipidationi9 – 91S-palmitoyl cysteineBy similarity
    Cross-linki329 – 329Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated

    Post-translational modificationi

    Sumoylation is required for PKD2 entry into cilium.1 Publication

    Keywords - PTMi

    Isopeptide bond, Lipoprotein, Palmitate, Ubl conjugation

    Proteomic databases

    MaxQBiQ3SXY8.
    PaxDbiQ3SXY8.
    PRIDEiQ3SXY8.

    PTM databases

    PhosphoSiteiQ3SXY8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ3SXY8.
    BgeeiQ3SXY8.
    CleanExiHS_ARL13B.
    GenevestigatoriQ3SXY8.

    Organism-specific databases

    HPAiHPA048926.

    Interactioni

    Subunit structurei

    Monomer By similarity. Interacts with PIFO. Interacts with IFT complex B components IFT46 and IFT74.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi128353. 2 interactions.
    STRINGi9606.ENSP00000377769.

    Structurei

    3D structure databases

    ProteinModelPortaliQ3SXY8.
    SMRiQ3SXY8. Positions 20-219.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili192 – 24554Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi369 – 41951Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the small GTPase superfamily. Arf family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiCOG1100.
    HOGENOMiHOG000034031.
    HOVERGENiHBG060221.
    InParanoidiQ3SXY8.
    KOiK07962.
    OMAiINLRQGK.
    PhylomeDBiQ3SXY8.
    TreeFamiTF105476.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR027417. P-loop_NTPase.
    IPR005225. Small_GTP-bd_dom.
    IPR024156. Small_GTPase_ARF.
    IPR006689. Small_GTPase_ARF/SAR.
    [Graphical view]
    PfamiPF00025. Arf. 1 hit.
    [Graphical view]
    PRINTSiPR00328. SAR1GTPBP.
    SUPFAMiSSF52540. SSF52540. 1 hit.
    TIGRFAMsiTIGR00231. small_GTP. 1 hit.
    PROSITEiPS51417. ARF. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q3SXY8-1) [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

    MFSLMASCCG WFKRWREPVR KVTLLMVGLD NAGKTATAKG IQGEYPEDVA    50
    PTVGFSKINL RQGKFEVTIF DLGGGIRIRG IWKNYYAESY GVIFVVDSSD 100
    EERMEETKEA MSEMLRHPRI SGKPILVLAN KQDKEGALGE ADVIECLSLE 150
    KLVNEHKCLC QIEPCSAISG YGKKIDKSIK KGLYWLLHVI ARDFDALNER 200
    IQKETTEQRA LEEQEKQERA ERVRKLREER KQNEQEQAEL DGTSGLAELD 250
    PEPTNPFQPI ASVIIENEGK LEREKKNQKM EKDSDGCHLK HKMEHEQIET 300
    QGQVNHNGQK NNEFGLVENY KEALTQQLKN EDETDRPSLE SANGKKKTKK 350
    LRMKRNHRVE PLNIDDCAPE SPTPPPPPPP VGWGTPKVTR LPKLEPLGET 400
    HHNDFYRKPL PPLAVPQRPN SDAHDVIS 428
    Length:428
    Mass (Da):48,643
    Last modified:October 11, 2005 - v1
    Checksum:i002B38A38D1F7BDD
    GO
    Isoform 2 (identifier: Q3SXY8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         21-127: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:321
    Mass (Da):36,795
    Checksum:iD4D82D271E9E7F1E
    GO
    Isoform 3 (identifier: Q3SXY8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-103: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:325
    Mass (Da):37,087
    Checksum:i21F4DA7BFC23125C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti275 – 2751K → KK in CAD28544. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791R → Q in JBTS8; reduces binding to GTP. 1 Publication
    VAR_054371
    Natural varianti200 – 2001R → C in JBTS8. 1 Publication
    VAR_054372
    Natural varianti348 – 3481T → S.
    Corresponds to variant rs33944211 [ dbSNP | Ensembl ].
    VAR_048319
    Natural varianti390 – 3901R → L in a nephronophthisis (NPHP) patient. 1 Publication
    VAR_069190

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 103103Missing in isoform 3. 1 PublicationVSP_045421Add
    BLAST
    Alternative sequencei21 – 127107Missing in isoform 2. 1 PublicationVSP_020733Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL713789 mRNA. Translation: CAD28544.2.
    AC117474 Genomic DNA. No translation available.
    AC130896 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79897.1.
    CH471052 Genomic DNA. Translation: EAW79901.1.
    CH471052 Genomic DNA. Translation: EAW79898.1.
    BC094725 mRNA. Translation: AAH94725.1.
    BC104035 mRNA. Translation: AAI04036.1.
    BC104036 mRNA. Translation: AAI04037.1.
    CCDSiCCDS2924.1. [Q3SXY8-2]
    CCDS2925.1. [Q3SXY8-1]
    CCDS54615.1. [Q3SXY8-3]
    RefSeqiNP_001167621.1. NM_001174150.1. [Q3SXY8-1]
    NP_001167622.1. NM_001174151.1. [Q3SXY8-3]
    NP_659433.2. NM_144996.3. [Q3SXY8-2]
    NP_878899.1. NM_182896.2. [Q3SXY8-1]
    UniGeneiHs.533086.

    Genome annotation databases

    EnsembliENST00000303097; ENSP00000306225; ENSG00000169379. [Q3SXY8-2]
    ENST00000394222; ENSP00000377769; ENSG00000169379. [Q3SXY8-1]
    ENST00000471138; ENSP00000420780; ENSG00000169379. [Q3SXY8-1]
    ENST00000535334; ENSP00000445145; ENSG00000169379. [Q3SXY8-3]
    GeneIDi200894.
    KEGGihsa:200894.
    UCSCiuc003drc.3. human. [Q3SXY8-1]
    uc003drd.3. human. [Q3SXY8-2]

    Polymorphism databases

    DMDMi115503786.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL713789 mRNA. Translation: CAD28544.2 .
    AC117474 Genomic DNA. No translation available.
    AC130896 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79897.1 .
    CH471052 Genomic DNA. Translation: EAW79901.1 .
    CH471052 Genomic DNA. Translation: EAW79898.1 .
    BC094725 mRNA. Translation: AAH94725.1 .
    BC104035 mRNA. Translation: AAI04036.1 .
    BC104036 mRNA. Translation: AAI04037.1 .
    CCDSi CCDS2924.1. [Q3SXY8-2 ]
    CCDS2925.1. [Q3SXY8-1 ]
    CCDS54615.1. [Q3SXY8-3 ]
    RefSeqi NP_001167621.1. NM_001174150.1. [Q3SXY8-1 ]
    NP_001167622.1. NM_001174151.1. [Q3SXY8-3 ]
    NP_659433.2. NM_144996.3. [Q3SXY8-2 ]
    NP_878899.1. NM_182896.2. [Q3SXY8-1 ]
    UniGenei Hs.533086.

    3D structure databases

    ProteinModelPortali Q3SXY8.
    SMRi Q3SXY8. Positions 20-219.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128353. 2 interactions.
    STRINGi 9606.ENSP00000377769.

    PTM databases

    PhosphoSitei Q3SXY8.

    Polymorphism databases

    DMDMi 115503786.

    Proteomic databases

    MaxQBi Q3SXY8.
    PaxDbi Q3SXY8.
    PRIDEi Q3SXY8.

    Protocols and materials databases

    DNASUi 200894.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303097 ; ENSP00000306225 ; ENSG00000169379 . [Q3SXY8-2 ]
    ENST00000394222 ; ENSP00000377769 ; ENSG00000169379 . [Q3SXY8-1 ]
    ENST00000471138 ; ENSP00000420780 ; ENSG00000169379 . [Q3SXY8-1 ]
    ENST00000535334 ; ENSP00000445145 ; ENSG00000169379 . [Q3SXY8-3 ]
    GeneIDi 200894.
    KEGGi hsa:200894.
    UCSCi uc003drc.3. human. [Q3SXY8-1 ]
    uc003drd.3. human. [Q3SXY8-2 ]

    Organism-specific databases

    CTDi 200894.
    GeneCardsi GC03P093698.
    GeneReviewsi ARL13B.
    HGNCi HGNC:25419. ARL13B.
    HPAi HPA048926.
    MIMi 608922. gene.
    612291. phenotype.
    neXtProti NX_Q3SXY8.
    Orphaneti 475. Joubert syndrome.
    PharmGKBi PA134975272.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1100.
    HOGENOMi HOG000034031.
    HOVERGENi HBG060221.
    InParanoidi Q3SXY8.
    KOi K07962.
    OMAi INLRQGK.
    PhylomeDBi Q3SXY8.
    TreeFami TF105476.

    Miscellaneous databases

    ChiTaRSi ARL13B. human.
    GeneWikii ARL13B.
    GenomeRNAii 200894.
    NextBioi 89994.
    PROi Q3SXY8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q3SXY8.
    Bgeei Q3SXY8.
    CleanExi HS_ARL13B.
    Genevestigatori Q3SXY8.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR027417. P-loop_NTPase.
    IPR005225. Small_GTP-bd_dom.
    IPR024156. Small_GTPase_ARF.
    IPR006689. Small_GTPase_ARF/SAR.
    [Graphical view ]
    Pfami PF00025. Arf. 1 hit.
    [Graphical view ]
    PRINTSi PR00328. SAR1GTPBP.
    SUPFAMi SSF52540. SSF52540. 1 hit.
    TIGRFAMsi TIGR00231. small_GTP. 1 hit.
    PROSITEi PS51417. ARF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Amygdala.
    2. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain.
    5. Cited for: IDENTIFICATION.
    6. "Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation."
      Hori Y., Kobayashi T., Kikko Y., Kontani K., Katada T.
      Biochem. Biophys. Res. Commun. 373:119-124(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, GTP-BINDING, MUTAGENESIS OF THR-35 AND ASN-130.
    7. Cited for: INTERACTION WITH PIFO.
    8. "SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors."
      Li Y., Zhang Q., Wei Q., Zhang Y., Ling K., Hu J.
      J. Cell Biol. 199:589-598(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUMOYLATION AT LYS-329, MUTAGENESIS OF LYS-231; LYS-270; LYS-275; LYS-276; LYS-279 AND LYS-329.
    9. Cited for: INTERACTION WITH IFT46 AND IFT74.
    10. "ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting."
      Humbert M.C., Weihbrecht K., Searby C.C., Li Y., Pope R.M., Sheffield V.C., Seo S.
      Proc. Natl. Acad. Sci. U.S.A. 109:19691-19696(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    11. Cited for: POSSIBLE FUNCTION.
    12. "Asymmetric inheritance of centrosome-associated primary cilium membrane directs ciliogenesis after cell division."
      Paridaen J.T., Wilsch-Brauninger M., Huttner W.B.
      Cell 155:333-344(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    13. Cited for: VARIANTS JBTS8 GLN-79 AND CYS-200, CHARACTERIZATION OF VARIANT JBTS8 GLN-79.
    14. "Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy."
      Otto E.A., Ramaswami G., Janssen S., Chaki M., Allen S.J., Zhou W., Airik R., Hurd T.W., Ghosh A.K., Wolf M.T., Hoppe B., Neuhaus T.J., Bockenhauer D., Milford D.V., Soliman N.A., Antignac C., Saunier S., Johnson C.A., Hildebrandt F.
      J. Med. Genet. 48:105-116(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LEU-390.

    Entry informationi

    Entry nameiAR13B_HUMAN
    AccessioniPrimary (citable) accession number: Q3SXY8
    Secondary accession number(s): D3DN29
    , G3V1S8, Q504W8, Q8TCL5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2006
    Last sequence update: October 11, 2005
    Last modified: October 1, 2014
    This is version 85 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

    Miscellaneous

    Used as a ciliary marker because of its specific localization to microtubule doublets of the ciliary axoneme.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3