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Q14CB8

- RHG19_HUMAN

UniProt

Q14CB8 - RHG19_HUMAN

Protein

Rho GTPase-activating protein 19

Gene

ARHGAP19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 1 (22 Aug 2006)
      Previous versions | rss
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    Functioni

    GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.By similarity

    GO - Molecular functioni

    1. GTPase activator activity Source: UniProtKB-KW

    GO - Biological processi

    1. regulation of small GTPase mediated signal transduction Source: Reactome
    2. small GTPase mediated signal transduction Source: Reactome

    Keywords - Molecular functioni

    GTPase activation

    Enzyme and pathway databases

    ReactomeiREACT_11051. Rho GTPase cycle.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Rho GTPase-activating protein 19
    Alternative name(s):
    Rho-type GTPase-activating protein 19
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23724. ARHGAP19.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134917415.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 494494Rho GTPase-activating protein 19PRO_0000280465Add
    BLAST

    Proteomic databases

    MaxQBiQ14CB8.
    PaxDbiQ14CB8.
    PRIDEiQ14CB8.

    PTM databases

    PhosphoSiteiQ14CB8.

    Expressioni

    Tissue specificityi

    Strong expression in fetal heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Weak expression in adult pancreas, spleen, thymus, and ovary.1 Publication

    Gene expression databases

    ArrayExpressiQ14CB8.
    BgeeiQ14CB8.
    GenevestigatoriQ14CB8.

    Organism-specific databases

    HPAiHPA043231.

    Interactioni

    Protein-protein interaction databases

    BioGridi124412. 6 interactions.
    IntActiQ14CB8. 1 interaction.
    MINTiMINT-2877769.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14CB8.
    SMRiQ14CB8. Positions 93-308.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini102 – 308207Rho-GAPPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 Rho-GAP domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG241354.
    HOVERGENiHBG055569.
    OMAiIRQFNKH.
    PhylomeDBiQ14CB8.
    TreeFamiTF326309.

    Family and domain databases

    Gene3Di1.10.555.10. 1 hit.
    InterProiIPR008936. Rho_GTPase_activation_prot.
    IPR000198. RhoGAP_dom.
    [Graphical view]
    PfamiPF00620. RhoGAP. 1 hit.
    [Graphical view]
    SMARTiSM00324. RhoGAP. 1 hit.
    [Graphical view]
    SUPFAMiSSF48350. SSF48350. 1 hit.
    PROSITEiPS50238. RHOGAP. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q14CB8-1) [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

    MATEAQSEGE VPARESGRSD AICSFVICND SSLRGQPIIF NPDFFVEKLR    50
    HEKPEIFTEL VVSNITRLID LPGTELAQLM GEVDLKLPGG AGPASGFFRS 100
    LMSLKRKEKG VIFGSPLTEE GIAQIYQLIE YLHKNLRVEG LFRVPGNSVR 150
    QQILRDALNN GTDIDLESGE FHSNDVATLL KMFLGELPEP LLTHKHFNAH 200
    LKIADLMQFD DKGNKTNIPD KDRQIEALQL LFLILPPPNR NLLKLLLDLL 250
    YQTAKKQDKN KMSAYNLALM FAPHVLWPKN VTANDLQENI TKLNSGMAFM 300
    IKHSQKLFKA PAYIRECARL HYLGSRTQAS KDDLDLIASC HTKSFQLAKS 350
    QKRNRVDSCP HQEETQHHTE EALRELFQHV HDMPESAKKK QLIRQFNKQS 400
    LTQTPGREPS TSQVQKRARS RSFSGLIKRK VLGNQMMSEK KKKNPTPESV 450
    AIGELKGTSK ENRNLLFSGS PAVTMTPTRL KWSEGKKEGK KGFL 494
    Length:494
    Mass (Da):55,756
    Last modified:August 22, 2006 - v1
    Checksum:iEAE8DF3FD1253858
    GO
    Isoform 2 (identifier: Q14CB8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         493-494: FL → NSMATTSLGSIRMTLRGSSSCGCCS

    Note: No experimental confirmation available.

    Show »
    Length:517
    Mass (Da):57,989
    Checksum:iED0204FB3AEA0BFA
    GO
    Isoform 3 (identifier: Q14CB8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-19: MATEAQSEGEVPARESGRS → MPHQKLSALI

    Note: No experimental confirmation available.

    Show »
    Length:485
    Mass (Da):54,901
    Checksum:i9127F52FD96F4DF7
    GO
    Isoform 4 (identifier: Q14CB8-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-382: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:112
    Mass (Da):12,548
    Checksum:iA7F67459CA61C860
    GO
    Isoform 5 (identifier: Q14CB8-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         281-301: VTANDLQENITKLNSGMAFMI → GLVLLPTLEESNTITTHCSLI
         302-494: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:301
    Mass (Da):33,708
    Checksum:i7909659144913AEB
    GO
    Isoform 6 (identifier: Q14CB8-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         281-309: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:465
    Mass (Da):52,466
    Checksum:iA427B1C7CC5ADEA2
    GO
    Isoform 7 (identifier: Q14CB8-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         332-346: Missing.

    Show »
    Length:479
    Mass (Da):54,081
    Checksum:iB4B5048BCB255B21
    GO

    Sequence cautioni

    The sequence BAC04165.1 differs from that shown. Reason: Frameshift at position 280.
    The sequence BAB84948.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti28 – 281C → Y in AAR02412. (PubMed:17454002)Curated
    Sequence conflicti28 – 281C → Y in ABC69298. (PubMed:17454002)Curated
    Sequence conflicti170 – 1701E → A in CAH18254. (PubMed:17974005)Curated
    Sequence conflicti170 – 1701E → G in BAC04165. (PubMed:14702039)Curated
    Sequence conflicti420 – 4201S → L in BAC04165. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti305 – 3051Q → R.
    Corresponds to variant rs17112598 [ dbSNP | Ensembl ].
    VAR_031152

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 382382Missing in isoform 4. 1 PublicationVSP_023695Add
    BLAST
    Alternative sequencei1 – 1919MATEA…ESGRS → MPHQKLSALI in isoform 3. 1 PublicationVSP_023696Add
    BLAST
    Alternative sequencei281 – 30929Missing in isoform 6. 1 PublicationVSP_023697Add
    BLAST
    Alternative sequencei281 – 30121VTAND…MAFMI → GLVLLPTLEESNTITTHCSL I in isoform 5. 1 PublicationVSP_023698Add
    BLAST
    Alternative sequencei302 – 494193Missing in isoform 5. 1 PublicationVSP_023699Add
    BLAST
    Alternative sequencei332 – 34615Missing in isoform 7. CuratedVSP_023700Add
    BLAST
    Alternative sequencei493 – 4942FL → NSMATTSLGSIRMTLRGSSS CGCCS in isoform 2. 1 PublicationVSP_023701

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ338460 mRNA. Translation: ABC69298.1.
    AY336750 mRNA. Translation: AAR02412.1.
    AK093441 mRNA. Translation: BAC04165.1. Frameshift.
    AK074122 mRNA. Translation: BAB84948.1. Different initiation.
    AK090447 mRNA. Translation: BAC03428.1.
    AK303055 mRNA. Translation: BAG64173.1.
    CR749412 mRNA. Translation: CAH18254.1.
    AL359385 Genomic DNA. Translation: CAI13728.1.
    AL359385 Genomic DNA. Translation: CAI13731.2.
    CH471066 Genomic DNA. Translation: EAW49952.1.
    BC113888 mRNA. Translation: AAI13889.1.
    BC114490 mRNA. Translation: AAI14491.1.
    CCDSiCCDS58092.1. [Q14CB8-3]
    CCDS7454.2. [Q14CB8-1]
    RefSeqiNP_001191229.1. NM_001204300.1. [Q14CB8-6]
    NP_001243352.1. NM_001256423.1. [Q14CB8-3]
    NP_116289.4. NM_032900.5. [Q14CB8-1]
    UniGeneiHs.80305.

    Genome annotation databases

    EnsembliENST00000358531; ENSP00000351333; ENSG00000213390. [Q14CB8-1]
    ENST00000371027; ENSP00000360066; ENSG00000213390. [Q14CB8-3]
    GeneIDi84986.
    KEGGihsa:84986.
    UCSCiuc001kna.4. human. [Q14CB8-3]
    uc001knb.3. human. [Q14CB8-1]
    uc009xvj.3. human. [Q14CB8-6]

    Polymorphism databases

    DMDMi121948181.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ338460 mRNA. Translation: ABC69298.1 .
    AY336750 mRNA. Translation: AAR02412.1 .
    AK093441 mRNA. Translation: BAC04165.1 . Frameshift.
    AK074122 mRNA. Translation: BAB84948.1 . Different initiation.
    AK090447 mRNA. Translation: BAC03428.1 .
    AK303055 mRNA. Translation: BAG64173.1 .
    CR749412 mRNA. Translation: CAH18254.1 .
    AL359385 Genomic DNA. Translation: CAI13728.1 .
    AL359385 Genomic DNA. Translation: CAI13731.2 .
    CH471066 Genomic DNA. Translation: EAW49952.1 .
    BC113888 mRNA. Translation: AAI13889.1 .
    BC114490 mRNA. Translation: AAI14491.1 .
    CCDSi CCDS58092.1. [Q14CB8-3 ]
    CCDS7454.2. [Q14CB8-1 ]
    RefSeqi NP_001191229.1. NM_001204300.1. [Q14CB8-6 ]
    NP_001243352.1. NM_001256423.1. [Q14CB8-3 ]
    NP_116289.4. NM_032900.5. [Q14CB8-1 ]
    UniGenei Hs.80305.

    3D structure databases

    ProteinModelPortali Q14CB8.
    SMRi Q14CB8. Positions 93-308.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124412. 6 interactions.
    IntActi Q14CB8. 1 interaction.
    MINTi MINT-2877769.

    PTM databases

    PhosphoSitei Q14CB8.

    Polymorphism databases

    DMDMi 121948181.

    Proteomic databases

    MaxQBi Q14CB8.
    PaxDbi Q14CB8.
    PRIDEi Q14CB8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000358531 ; ENSP00000351333 ; ENSG00000213390 . [Q14CB8-1 ]
    ENST00000371027 ; ENSP00000360066 ; ENSG00000213390 . [Q14CB8-3 ]
    GeneIDi 84986.
    KEGGi hsa:84986.
    UCSCi uc001kna.4. human. [Q14CB8-3 ]
    uc001knb.3. human. [Q14CB8-1 ]
    uc009xvj.3. human. [Q14CB8-6 ]

    Organism-specific databases

    CTDi 84986.
    GeneCardsi GC10M098757.
    GC10M098971.
    H-InvDB HIX0009085.
    HIX0079267.
    HGNCi HGNC:23724. ARHGAP19.
    HPAi HPA043231.
    MIMi 611587. gene.
    neXtProti NX_Q14CB8.
    PharmGKBi PA134917415.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241354.
    HOVERGENi HBG055569.
    OMAi IRQFNKH.
    PhylomeDBi Q14CB8.
    TreeFami TF326309.

    Enzyme and pathway databases

    Reactomei REACT_11051. Rho GTPase cycle.

    Miscellaneous databases

    GeneWikii ARHGAP19.
    GenomeRNAii 84986.
    NextBioi 75560.
    PROi Q14CB8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14CB8.
    Bgeei Q14CB8.
    Genevestigatori Q14CB8.

    Family and domain databases

    Gene3Di 1.10.555.10. 1 hit.
    InterProi IPR008936. Rho_GTPase_activation_prot.
    IPR000198. RhoGAP_dom.
    [Graphical view ]
    Pfami PF00620. RhoGAP. 1 hit.
    [Graphical view ]
    SMARTi SM00324. RhoGAP. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48350. SSF48350. 1 hit.
    PROSITEi PS50238. RHOGAP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Sequence analysis of a human RhoGAP domain-containing gene and characterization of its expression in human multiple tissues."
      Lv L., Xu J., Zhao S., Chen C., Zhao X., Gu S., Ji C., Xie Y., Mao Y.
      DNA Seq. 18:184-189(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Fetal brain.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
      Tissue: Testis.
    3. "Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones."
      Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N., Ohara O.
      DNA Res. 10:49-57(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-427 (ISOFORM 5).
      Tissue: Spleen.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Bone marrow.
    5. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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 6).

    Entry informationi

    Entry nameiRHG19_HUMAN
    AccessioniPrimary (citable) accession number: Q14CB8
    Secondary accession number(s): A1XCP1
    , B4DZR1, Q14CF2, Q5J8M2, Q5T460, Q5T462, Q68DG6, Q8N9X1, Q8NF34, Q8TEK1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: August 22, 2006
    Last modified: October 1, 2014
    This is version 77 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 10
      Human chromosome 10: 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