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Q9NXL2

- ARH38_HUMAN

UniProt

Q9NXL2 - ARH38_HUMAN

Protein

Rho guanine nucleotide exchange factor 38

Gene

ARHGEF38

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 2 (19 Mar 2014)
      Previous versions | rss
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    Functioni

    May act as a guanine-nucleotide releasing factor.By similarity

    GO - Molecular functioni

    1. Rho guanyl-nucleotide exchange factor activity Source: InterPro

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Rho guanine nucleotide exchange factor 38
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:25968. ARHGEF38.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: InterPro

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165663186.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 777777Rho guanine nucleotide exchange factor 38PRO_0000318987Add
    BLAST

    Proteomic databases

    PaxDbiQ9NXL2.
    PRIDEiQ9NXL2.

    PTM databases

    PhosphoSiteiQ9NXL2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NXL2.
    BgeeiQ9NXL2.
    GenevestigatoriQ9NXL2.

    Organism-specific databases

    HPAiHPA036510.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NXL2.
    SMRiQ9NXL2. Positions 63-386, 581-647, 716-773.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini94 – 285192DHPROSITE-ProRule annotationAdd
    BLAST
    Domaini327 – 536210BARPROSITE-ProRule annotationAdd
    BLAST
    Domaini713 – 77664SH3PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi689 – 6946Poly-Ser

    Sequence similaritiesi

    Contains 1 BAR domain.PROSITE-ProRule annotation
    Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG287592.
    HOGENOMiHOG000155511.
    HOVERGENiHBG094907.
    InParanoidiQ9NXL2.
    OMAiCGKFETN.
    OrthoDBiEOG7M3J14.
    PhylomeDBiQ9NXL2.
    TreeFamiTF317245.

    Family and domain databases

    Gene3Di1.20.1270.60. 1 hit.
    1.20.900.10. 1 hit.
    InterProiIPR027267. AH/BAR-dom.
    IPR004148. BAR_dom.
    IPR000219. DH-domain.
    IPR011511. SH3_2.
    IPR001452. SH3_domain.
    [Graphical view]
    PfamiPF03114. BAR. 1 hit.
    PF00621. RhoGEF. 1 hit.
    PF07653. SH3_2. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view]
    SMARTiSM00721. BAR. 1 hit.
    SM00325. RhoGEF. 1 hit.
    SM00326. SH3. 2 hits.
    [Graphical view]
    SUPFAMiSSF48065. SSF48065. 1 hit.
    SSF50044. SSF50044. 2 hits.
    PROSITEiPS51021. BAR. 1 hit.
    PS50010. DH_2. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 2 (identifier: Q9NXL2-2) [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

    MEPKEATGKE NMVTKKKNLA FLRSRLYMLE RRKTDTVVES SVSGDHSGTL    50
    RRSQSDRTEY NQKLQEKMTP QGECSVAETL TPEEEHHMKR MMAKREKIIK 100
    ELIQTEKDYL NDLELCVREV VQPLRNKKTD RLDVDSLFSN IESVHQISAK 150
    LLSLLEEATT DVEPAMQVIG EVFLQIKGPL EDIYKIYCYH HDEAHSILES 200
    YEKEEELKEH LSHCIQSLKK IYMQEGKPNL LDMGSLMIKP IQRVMKYPLL 250
    LCELRNSTPP SHPDYRALDD AFAAVKDINV NINELKRRKD LVLKYKKNDE 300
    DESLKDKLSK LNIHSISKKS KRVTNHLKIL TRGESQVKDN TFNREEKLFR 350
    ALEKTVRLCV KNISLCLQHI QDAMPLALQS VMDLQEISYN KDDEMDYSET 400
    LSNALNSCHD FASHLQRLIL TPLSALLSLF PGPHKLIQKR YDKLLDCNSY 450
    LQRSTGEESD LAKKEYEALN AQLVEELQAF NQAARKILLN CLCSFITLLR 500
    DLMLVAQQAY STLVPMPLLV SSISEIQNQV LEEIQNLNCV KENSATFIER 550
    KLSFEKKKPV QILPEMPHQT DIHRSKLLST YSAEELYQAK RKCNATQEYD 600
    INLLEGDLVA VIEQKDPLGS TSRWLVDTGN VKGYVYSSFL KPYNPAKMQK 650
    VDAENRFCDD DFENISLFVS SRPASDSVTG TSESSIGDSS SSLSGTCGKF 700
    ETNGTDVDSF QEVDEQIFYA VHAFQARSDH ELSLQEYQRV HILRFCDLSG 750
    NKEWWLAEAQ GQKGYVPANY LGKMTYA 777

    Note: Gene prediction based on EST data.

    Length:777
    Mass (Da):89,078
    Last modified:March 19, 2014 - v2
    Checksum:i35F411FFD7704DFF
    GO
    Isoform 1 (identifier: Q9NXL2-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         220-777: Missing.

    Show »
    Length:219
    Mass (Da):25,507
    Checksum:iE997676477D9322D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 671K → N in a breast cancer sample; somatic mutation. 1 Publication
    VAR_038928
    Natural varianti88 – 881M → V.
    Corresponds to variant rs2276970 [ dbSNP | Ensembl ].
    VAR_038929

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei220 – 777558Missing in isoform 1. 1 PublicationVSP_053830Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000191 mRNA. Translation: BAA90998.1.
    AC004066 Genomic DNA. No translation available.
    AC105391 Genomic DNA. No translation available.
    CH471057 Genomic DNA. Translation: EAX06187.1.
    BC105695 mRNA. Translation: AAI05696.1.
    CCDSiCCDS3670.1. [Q9NXL2-1]
    CCDS56338.1. [Q9NXL2-2]
    RefSeqiNP_001229658.1. NM_001242729.1. [Q9NXL2-2]
    NP_060170.1. NM_017700.1. [Q9NXL2-1]
    UniGeneiHs.585224.
    Hs.652842.
    Hs.744739.

    Genome annotation databases

    EnsembliENST00000265154; ENSP00000265154; ENSG00000236699. [Q9NXL2-1]
    ENST00000420470; ENSP00000416125; ENSG00000236699. [Q9NXL2-2]
    GeneIDi54848.
    KEGGihsa:54848.
    UCSCiuc003hxu.3. human. [Q9NXL2-2]

    Polymorphism databases

    DMDMi74725339.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000191 mRNA. Translation: BAA90998.1 .
    AC004066 Genomic DNA. No translation available.
    AC105391 Genomic DNA. No translation available.
    CH471057 Genomic DNA. Translation: EAX06187.1 .
    BC105695 mRNA. Translation: AAI05696.1 .
    CCDSi CCDS3670.1. [Q9NXL2-1 ]
    CCDS56338.1. [Q9NXL2-2 ]
    RefSeqi NP_001229658.1. NM_001242729.1. [Q9NXL2-2 ]
    NP_060170.1. NM_017700.1. [Q9NXL2-1 ]
    UniGenei Hs.585224.
    Hs.652842.
    Hs.744739.

    3D structure databases

    ProteinModelPortali Q9NXL2.
    SMRi Q9NXL2. Positions 63-386, 581-647, 716-773.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q9NXL2.

    Polymorphism databases

    DMDMi 74725339.

    Proteomic databases

    PaxDbi Q9NXL2.
    PRIDEi Q9NXL2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265154 ; ENSP00000265154 ; ENSG00000236699 . [Q9NXL2-1 ]
    ENST00000420470 ; ENSP00000416125 ; ENSG00000236699 . [Q9NXL2-2 ]
    GeneIDi 54848.
    KEGGi hsa:54848.
    UCSCi uc003hxu.3. human. [Q9NXL2-2 ]

    Organism-specific databases

    CTDi 54848.
    GeneCardsi GC04P106474.
    H-InvDB HIX0004421.
    HGNCi HGNC:25968. ARHGEF38.
    HPAi HPA036510.
    neXtProti NX_Q9NXL2.
    PharmGKBi PA165663186.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG287592.
    HOGENOMi HOG000155511.
    HOVERGENi HBG094907.
    InParanoidi Q9NXL2.
    OMAi CGKFETN.
    OrthoDBi EOG7M3J14.
    PhylomeDBi Q9NXL2.
    TreeFami TF317245.

    Miscellaneous databases

    ChiTaRSi ARHGEF38. human.
    GenomeRNAii 54848.
    NextBioi 57687.
    PROi Q9NXL2.

    Gene expression databases

    ArrayExpressi Q9NXL2.
    Bgeei Q9NXL2.
    Genevestigatori Q9NXL2.

    Family and domain databases

    Gene3Di 1.20.1270.60. 1 hit.
    1.20.900.10. 1 hit.
    InterProi IPR027267. AH/BAR-dom.
    IPR004148. BAR_dom.
    IPR000219. DH-domain.
    IPR011511. SH3_2.
    IPR001452. SH3_domain.
    [Graphical view ]
    Pfami PF03114. BAR. 1 hit.
    PF00621. RhoGEF. 1 hit.
    PF07653. SH3_2. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view ]
    SMARTi SM00721. BAR. 1 hit.
    SM00325. RhoGEF. 1 hit.
    SM00326. SH3. 2 hits.
    [Graphical view ]
    SUPFAMi SSF48065. SSF48065. 1 hit.
    SSF50044. SSF50044. 2 hits.
    PROSITEi PS51021. BAR. 1 hit.
    PS50010. DH_2. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 1).
      Tissue: Colon mucosa.
    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. 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].
    5. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-67.

    Entry informationi

    Entry nameiARH38_HUMAN
    AccessioniPrimary (citable) accession number: Q9NXL2
    Secondary accession number(s): C9JIB4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: March 19, 2014
    Last modified: October 1, 2014
    This is version 94 of the entry and version 2 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 4
      Human chromosome 4: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3