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Protein

Rho guanine nucleotide exchange factor 39

Gene

ARHGEF39

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Promotes cell proliferation.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Rho guanine nucleotide exchange factor 39
Gene namesi
Name:ARHGEF39
Synonyms:C9orf100
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:25909. ARHGEF39.

Subcellular locationi

  • Cell membrane 1 Publication

GO - Cellular componenti

  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134939297.

Polymorphism and mutation databases

BioMutaiARHGEF39.
DMDMi74759886.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 335335Rho guanine nucleotide exchange factor 39PRO_0000291864Add
BLAST

Proteomic databases

EPDiQ8N4T4.
MaxQBiQ8N4T4.
PaxDbiQ8N4T4.
PRIDEiQ8N4T4.

PTM databases

iPTMnetiQ8N4T4.
PhosphoSiteiQ8N4T4.

Expressioni

Tissue specificityi

Strongly expressed in hepatocellular carcinoma (HCC) compared with their non-cancerous counterparts.1 Publication

Gene expression databases

BgeeiQ8N4T4.
CleanExiHS_C9orf100.
GenevisibleiQ8N4T4. HS.

Organism-specific databases

HPAiHPA061299.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CALCOCO2Q131373EBI-745468,EBI-739580
TIFAQ96CG33EBI-745468,EBI-740711

Protein-protein interaction databases

BioGridi124343. 7 interactions.
IntActiQ8N4T4. 4 interactions.
MINTiMINT-1457561.
STRINGi9606.ENSP00000367638.

Structurei

3D structure databases

ProteinModelPortaliQ8N4T4.
SMRiQ8N4T4. Positions 13-335.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini22 – 197176DHPROSITE-ProRule annotationAdd
BLAST
Domaini227 – 331105PHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiENOG410IE9S. Eukaryota.
ENOG4110AJV. LUCA.
GeneTreeiENSGT00440000033863.
HOGENOMiHOG000035112.
HOVERGENiHBG058322.
InParanoidiQ8N4T4.
OMAiCPHLELY.
OrthoDBiEOG73NG3M.
PhylomeDBiQ8N4T4.
TreeFamiTF350447.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N4T4-1) [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

        10         20         30         40         50
MELSCPGSRC PVQEQRARWE RKRACTAREL LETERRYQEQ LGLVATYFLG
60 70 80 90 100
ILKAKGTLRP PERQALFGSW ELIYGASQEL LPYLEGGCWG QGLEGFCRHL
110 120 130 140 150
ELYNQFAANS ERSQTTLQEQ LKKNKGFRRF VRLQEGRPEF GGLQLQDLLP
160 170 180 190 200
LPLQRLQQYE NLVVALAENT GPNSPDHQQL TRAARLISET AQRVHTIGQK
210 220 230 240 250
QKNDQHLRRV QALLSGRQAK GLTSGRWFLR QGWLLVVPPH GEPRPRMFFL
260 270 280 290 300
FTDVLLMAKP RPPLHLLRSG TFACKALYPM AQCHLSRVFG HSGGPCGGLL
310 320 330
SLSFPHEKLL LMSTDQEELS RWYHSLTWAI SSQKN
Length:335
Mass (Da):38,295
Last modified:October 1, 2002 - v1
Checksum:i3D8C8D8068AE651E
GO
Isoform 2 (identifier: Q8N4T4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.
     37-46: YQEQLGLVAT → MLGVCQTLKQ

Note: No experimental confirmation available.
Show »
Length:299
Mass (Da):33,979
Checksum:iC83C7BCF16A63A4C
GO
Isoform 3 (identifier: Q8N4T4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     182-186: RAARL → PVLPS
     187-335: Missing.

Note: No experimental confirmation available.
Show »
Length:186
Mass (Da):21,315
Checksum:iB07479B0BA7B8EC8
GO
Isoform 4 (identifier: Q8N4T4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     301-305: SLSFP → TVLPS
     306-335: Missing.

Show »
Length:305
Mass (Da):34,647
Checksum:iE7D9184ADAB03485
GO

Sequence cautioni

The sequence AAR01010.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAR01011.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti139 – 1391E → G in BAB55192 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51C → F.
Corresponds to variant rs45567235 [ dbSNP | Ensembl ].
VAR_061801
Natural varianti306 – 3061H → R.
Corresponds to variant rs2297879 [ dbSNP | Ensembl ].
VAR_032876

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3636Missing in isoform 2. 1 PublicationVSP_026281Add
BLAST
Alternative sequencei37 – 4610YQEQLGLVAT → MLGVCQTLKQ in isoform 2. 1 PublicationVSP_026282
Alternative sequencei182 – 1865RAARL → PVLPS in isoform 3. 1 PublicationVSP_026283
Alternative sequencei187 – 335149Missing in isoform 3. 1 PublicationVSP_026284Add
BLAST
Alternative sequencei301 – 3055SLSFP → TVLPS in isoform 4. 1 PublicationVSP_026285
Alternative sequencei306 – 33530Missing in isoform 4. 1 PublicationVSP_026286Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY390225 mRNA. Translation: AAR01010.1. Different initiation.
AY390226 mRNA. Translation: AAR01011.1. Different initiation.
AL357874 Genomic DNA. Translation: CAI13452.1.
BC033666 mRNA. Translation: AAH33666.1.
BC038673 mRNA. No translation available.
AK027548 mRNA. Translation: BAB55192.1.
CCDSiCCDS6584.2. [Q8N4T4-1]
RefSeqiNP_116207.2. NM_032818.2.
UniGeneiHs.534579.

Genome annotation databases

EnsembliENST00000378387; ENSP00000367638; ENSG00000137135. [Q8N4T4-1]
ENST00000475323; ENSP00000436519; ENSG00000137135. [Q8N4T4-3]
ENST00000490638; ENSP00000436756; ENSG00000137135. [Q8N4T4-2]
GeneIDi84904.
KEGGihsa:84904.
UCSCiuc003zxl.4. human. [Q8N4T4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY390225 mRNA. Translation: AAR01010.1. Different initiation.
AY390226 mRNA. Translation: AAR01011.1. Different initiation.
AL357874 Genomic DNA. Translation: CAI13452.1.
BC033666 mRNA. Translation: AAH33666.1.
BC038673 mRNA. No translation available.
AK027548 mRNA. Translation: BAB55192.1.
CCDSiCCDS6584.2. [Q8N4T4-1]
RefSeqiNP_116207.2. NM_032818.2.
UniGeneiHs.534579.

3D structure databases

ProteinModelPortaliQ8N4T4.
SMRiQ8N4T4. Positions 13-335.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124343. 7 interactions.
IntActiQ8N4T4. 4 interactions.
MINTiMINT-1457561.
STRINGi9606.ENSP00000367638.

PTM databases

iPTMnetiQ8N4T4.
PhosphoSiteiQ8N4T4.

Polymorphism and mutation databases

BioMutaiARHGEF39.
DMDMi74759886.

Proteomic databases

EPDiQ8N4T4.
MaxQBiQ8N4T4.
PaxDbiQ8N4T4.
PRIDEiQ8N4T4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378387; ENSP00000367638; ENSG00000137135. [Q8N4T4-1]
ENST00000475323; ENSP00000436519; ENSG00000137135. [Q8N4T4-3]
ENST00000490638; ENSP00000436756; ENSG00000137135. [Q8N4T4-2]
GeneIDi84904.
KEGGihsa:84904.
UCSCiuc003zxl.4. human. [Q8N4T4-1]

Organism-specific databases

CTDi84904.
GeneCardsiARHGEF39.
HGNCiHGNC:25909. ARHGEF39.
HPAiHPA061299.
neXtProtiNX_Q8N4T4.
PharmGKBiPA134939297.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE9S. Eukaryota.
ENOG4110AJV. LUCA.
GeneTreeiENSGT00440000033863.
HOGENOMiHOG000035112.
HOVERGENiHBG058322.
InParanoidiQ8N4T4.
OMAiCPHLELY.
OrthoDBiEOG73NG3M.
PhylomeDBiQ8N4T4.
TreeFamiTF350447.

Miscellaneous databases

GenomeRNAii84904.
PROiQ8N4T4.

Gene expression databases

BgeeiQ8N4T4.
CleanExiHS_C9orf100.
GenevisibleiQ8N4T4. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Novel human oncogene homolog on chromosome 9p13, alternative splicing."
    Makela H.M.A., Ridanpaa M.
    Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
    Tissue: Lymphoblast.
  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] (ISOFORM 3).
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    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: Placenta and Testis.
  5. "C9orf100, a new member of the Dbl-family guanine nucleotide exchange factors, promotes cell proliferation and migration in hepatocellular carcinoma."
    Wang H., Li Y., Wang Y., Han Z.G., Cai B.
    Mol. Med. Report. 5:1169-1174(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiARG39_HUMAN
AccessioniPrimary (citable) accession number: Q8N4T4
Secondary accession number(s): Q49AG0, Q6TPQ2, Q96ST6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2002
Last modified: June 8, 2016
This is version 111 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 9
    Human chromosome 9: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.