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Q9NXL2 (ARH38_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rho guanine nucleotide exchange factor 38
Gene names
Name:ARHGEF38
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length777 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Sequence similarities

Contains 1 BAR domain.

Contains 1 DH (DBL-homology) domain.

Contains 1 SH3 domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionGuanine-nucleotide releasing factor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionRho guanyl-nucleotide exchange factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: Q9NXL2-2)

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.
Note: Gene prediction based on EST data.
Isoform 1 (identifier: Q9NXL2-1)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 777777Rho guanine nucleotide exchange factor 38
PRO_0000318987

Regions

Domain94 – 285192DH
Domain327 – 536210BAR
Domain713 – 77664SH3
Compositional bias689 – 6946Poly-Ser

Natural variations

Alternative sequence220 – 777558Missing in isoform 1.
VSP_053830
Natural variant671K → N in a breast cancer sample; somatic mutation. Ref.5
VAR_038928
Natural variant881M → V.
Corresponds to variant rs2276970 [ dbSNP | Ensembl ].
VAR_038929

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified March 19, 2014. Version 2.
Checksum: 35F411FFD7704DFF

FASTA77789,078
        10         20         30         40         50         60 
MEPKEATGKE NMVTKKKNLA FLRSRLYMLE RRKTDTVVES SVSGDHSGTL RRSQSDRTEY 

        70         80         90        100        110        120 
NQKLQEKMTP QGECSVAETL TPEEEHHMKR MMAKREKIIK ELIQTEKDYL NDLELCVREV 

       130        140        150        160        170        180 
VQPLRNKKTD RLDVDSLFSN IESVHQISAK LLSLLEEATT DVEPAMQVIG EVFLQIKGPL 

       190        200        210        220        230        240 
EDIYKIYCYH HDEAHSILES YEKEEELKEH LSHCIQSLKK IYMQEGKPNL LDMGSLMIKP 

       250        260        270        280        290        300 
IQRVMKYPLL LCELRNSTPP SHPDYRALDD AFAAVKDINV NINELKRRKD LVLKYKKNDE 

       310        320        330        340        350        360 
DESLKDKLSK LNIHSISKKS KRVTNHLKIL TRGESQVKDN TFNREEKLFR ALEKTVRLCV 

       370        380        390        400        410        420 
KNISLCLQHI QDAMPLALQS VMDLQEISYN KDDEMDYSET LSNALNSCHD FASHLQRLIL 

       430        440        450        460        470        480 
TPLSALLSLF PGPHKLIQKR YDKLLDCNSY LQRSTGEESD LAKKEYEALN AQLVEELQAF 

       490        500        510        520        530        540 
NQAARKILLN CLCSFITLLR DLMLVAQQAY STLVPMPLLV SSISEIQNQV LEEIQNLNCV 

       550        560        570        580        590        600 
KENSATFIER KLSFEKKKPV QILPEMPHQT DIHRSKLLST YSAEELYQAK RKCNATQEYD 

       610        620        630        640        650        660 
INLLEGDLVA VIEQKDPLGS TSRWLVDTGN VKGYVYSSFL KPYNPAKMQK VDAENRFCDD 

       670        680        690        700        710        720 
DFENISLFVS SRPASDSVTG TSESSIGDSS SSLSGTCGKF ETNGTDVDSF QEVDEQIFYA 

       730        740        750        760        770 
VHAFQARSDH ELSLQEYQRV HILRFCDLSG NKEWWLAEAQ GQKGYVPANY LGKMTYA 

« Hide

Isoform 1 [UniParc].

Checksum: E997676477D9322D
Show »

FASTA21925,507

References

[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-67.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001229658.1. NM_001242729.1.
NP_060170.1. NM_017700.1.
UniGeneHs.585224.
Hs.652842.
Hs.744739.

3D structure databases

ProteinModelPortalQ9NXL2.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ9NXL2.

Polymorphism databases

DMDM74725339.

Proteomic databases

PaxDbQ9NXL2.
PRIDEQ9NXL2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265154; ENSP00000265154; ENSG00000236699. [Q9NXL2-1]
ENST00000420470; ENSP00000416125; ENSG00000236699. [Q9NXL2-2]
GeneID54848.
KEGGhsa:54848.
UCSCuc003hxu.3. human. [Q9NXL2-2]

Organism-specific databases

CTD54848.
GeneCardsGC04P106474.
H-InvDBHIX0004421.
HGNCHGNC:25968. ARHGEF38.
HPAHPA036510.
neXtProtNX_Q9NXL2.
PharmGKBPA165663186.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG287592.
HOGENOMHOG000155511.
HOVERGENHBG094907.
InParanoidQ9NXL2.
OMACGKFETN.
OrthoDBEOG7M3J14.
PhylomeDBQ9NXL2.
TreeFamTF317245.

Gene expression databases

ArrayExpressQ9NXL2.
BgeeQ9NXL2.
GenevestigatorQ9NXL2.

Family and domain databases

Gene3D1.20.1270.60. 1 hit.
1.20.900.10. 1 hit.
InterProIPR027267. AH/BAR-dom.
IPR004148. BAR_dom.
IPR000219. DH-domain.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamPF03114. BAR. 1 hit.
PF00621. RhoGEF. 1 hit.
PF07653. SH3_2. 1 hit.
[Graphical view]
SMARTSM00721. BAR. 1 hit.
SM00325. RhoGEF. 1 hit.
SM00326. SH3. 2 hits.
[Graphical view]
SUPFAMSSF48065. SSF48065. 1 hit.
SSF50044. SSF50044. 2 hits.
PROSITEPS51021. BAR. 1 hit.
PS50010. DH_2. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSARHGEF38. human.
GenomeRNAi54848.
NextBio57687.
PROQ9NXL2.

Entry information

Entry nameARH38_HUMAN
AccessionPrimary (citable) accession number: Q9NXL2
Secondary accession number(s): C9JIB4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: March 19, 2014
Last modified: April 16, 2014
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM