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Q9NXL2

- ARH38_HUMAN

UniProt

Q9NXL2 - ARH38_HUMAN

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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

Functioni

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

GO - Molecular functioni

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

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
Complete GO annotation...

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

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.
GeneTreeiENSGT00530000063159.
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

        10         20         30         40         50
MEPKEATGKE NMVTKKKNLA FLRSRLYMLE RRKTDTVVES SVSGDHSGTL
60 70 80 90 100
RRSQSDRTEY NQKLQEKMTP QGECSVAETL TPEEEHHMKR MMAKREKIIK
110 120 130 140 150
ELIQTEKDYL NDLELCVREV VQPLRNKKTD RLDVDSLFSN IESVHQISAK
160 170 180 190 200
LLSLLEEATT DVEPAMQVIG EVFLQIKGPL EDIYKIYCYH HDEAHSILES
210 220 230 240 250
YEKEEELKEH LSHCIQSLKK IYMQEGKPNL LDMGSLMIKP IQRVMKYPLL
260 270 280 290 300
LCELRNSTPP SHPDYRALDD AFAAVKDINV NINELKRRKD LVLKYKKNDE
310 320 330 340 350
DESLKDKLSK LNIHSISKKS KRVTNHLKIL TRGESQVKDN TFNREEKLFR
360 370 380 390 400
ALEKTVRLCV KNISLCLQHI QDAMPLALQS VMDLQEISYN KDDEMDYSET
410 420 430 440 450
LSNALNSCHD FASHLQRLIL TPLSALLSLF PGPHKLIQKR YDKLLDCNSY
460 470 480 490 500
LQRSTGEESD LAKKEYEALN AQLVEELQAF NQAARKILLN CLCSFITLLR
510 520 530 540 550
DLMLVAQQAY STLVPMPLLV SSISEIQNQV LEEIQNLNCV KENSATFIER
560 570 580 590 600
KLSFEKKKPV QILPEMPHQT DIHRSKLLST YSAEELYQAK RKCNATQEYD
610 620 630 640 650
INLLEGDLVA VIEQKDPLGS TSRWLVDTGN VKGYVYSSFL KPYNPAKMQK
660 670 680 690 700
VDAENRFCDD DFENISLFVS SRPASDSVTG TSESSIGDSS SSLSGTCGKF
710 720 730 740 750
ETNGTDVDSF QEVDEQIFYA VHAFQARSDH ELSLQEYQRV HILRFCDLSG
760 770
NKEWWLAEAQ GQKGYVPANY LGKMTYA

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00530000063159.
HOGENOMi HOG000155511.
HOVERGENi HBG094907.
InParanoidi Q9NXL2.
OMAi CGKFETN.
OrthoDBi EOG7M3J14.
PhylomeDBi Q9NXL2.
TreeFami TF317245.

Miscellaneous databases

GenomeRNAii 54848.
NextBioi 57687.
PROi Q9NXL2.

Gene expression databases

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: November 26, 2014
This is version 96 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