Reviewed, UniProtKB/Swiss-Prot Q8N9B8 (RGF1A_HUMAN)

Names and origin

Protein names

Recommended name:
    Ras-GEF domain-containing family member 1A

Gene names

Name:

RASGEF1A

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	481 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Guanine nucleotide exchange factor (GEF) for KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration. Ref.3
Tissue specificity	Detected in brain and spinal cord. Highly expressed in a number of intrahepatic cholangiocarcinoma tissue biopsies. Ref.3
Sequence similarities	Contains 1 N-terminal Ras-GEF domain. Contains 1 Ras-GEF domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Molecular function	Guanine-nucleotide releasing factor
Gene Ontology (GO)
Biological process	regulation of small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro
Cellular component	intracellular Inferred from electronic annotation. Source: InterPro
Molecular function	guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N9B8-1)

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.

Isoform 2 (identifier: Q8N9B8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MFLEPQETM

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 481	481	Ras-GEF domain-containing family member 1A		PRO_0000297635
Regions
	Domain	41 – 170	130	N-terminal Ras-GEF
	Domain	214 – 461	248	Ras-GEF
Natural variations
	Alternative sequence	1	1	M → MFLEPQETM in isoform 2.		VSP_027312
Experimental info
	Sequence conflict	465	1	M → V in AAH22548. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 21, 2007. Version 2. Checksum: CF827AAC588525C0	FASTA	481	54,556
	10 20 30 40 50 60 MPQTSVVFSS ILGPSCSGQV QPGMGERGGG AGGGSGDLIF QDGHLISGSL EALMEHLVPT 70 80 90 100 110 120 VDYYPDRTYI FTFLLSSRVF MPPHDLLARV GQICVEQKQQ LEAGPEKAKL KSFSAKIVQL 130 140 150 160 170 180 LKEWTEAFPY DFQDEKAMAE LKAITHRVTQ CDEENGTVKK AIAQMTQSLL LSLAARSQLQ 190 200 210 220 230 240 ELREKLRPPA VDKGPILKTK PPAAQKDILG VCCDPLVLAQ QLTHIELDRV SSIYPEDLMQ 250 260 270 280 290 300 IVSHMDSLDN HRCRGDLTKT YSLEAYDNWF NCLSMLVATE VCRVVKKKHR TRMLEFFIDV 310 320 330 340 350 360 ARECFNIGNF NSMMAIISGM NLSPVARLKK TWSKVKTAKF DVLEHHMDPS SNFCNYRTAL 370 380 390 400 410 420 QGATQRSQMA NSSREKIVIP VFNLFVKDIY FLHKIHTNHL PNGHINFKKF WEISRQIHEF 430 440 450 460 470 480 MTWTQVECPF EKDKKIQSYL LTAPIYSEEA LFVASFESEG PENHMEKDSW KTLRTTLLNR A
	Isoform 2. Checksum: 85D5986ACD2C7C76	FASTA	489	55,532
	10 20 30 40 50 60 MFLEPQETMP QTSVVFSSIL GPSCSGQVQP GMGERGGGAG GGSGDLIFQD GHLISGSLEA 70 80 90 100 110 120 LMEHLVPTVD YYPDRTYIFT FLLSSRVFMP PHDLLARVGQ ICVEQKQQLE AGPEKAKLKS 130 140 150 160 170 180 FSAKIVQLLK EWTEAFPYDF QDEKAMAELK AITHRVTQCD EENGTVKKAI AQMTQSLLLS 190 200 210 220 230 240 LAARSQLQEL REKLRPPAVD KGPILKTKPP AAQKDILGVC CDPLVLAQQL THIELDRVSS 250 260 270 280 290 300 IYPEDLMQIV SHMDSLDNHR CRGDLTKTYS LEAYDNWFNC LSMLVATEVC RVVKKKHRTR 310 320 330 340 350 360 MLEFFIDVAR ECFNIGNFNS MMAIISGMNL SPVARLKKTW SKVKTAKFDV LEHHMDPSSN 370 380 390 400 410 420 FCNYRTALQG ATQRSQMANS SREKIVIPVF NLFVKDIYFL HKIHTNHLPN GHINFKKFWE 430 440 450 460 470 480 ISRQIHEFMT WTQVECPFEK DKKIQSYLLT APIYSEEALF VASFESEGPE NHMEKDSWKT LRTTLLNRA

References

	« Hide 'large scale' referencesShow 'large scale' 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. , 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Substantia nigra.
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[3]	"Enhanced RASGEF1A expression is involved in the growth and migration of intrahepatic cholangiocarcinoma." Ura K., Obama K., Satoh S., Sakai Y., Nakamura Y., Furukawa Y. Clin. Cancer Res. 12:6611-6616(2006) [PubMed: 17121879] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK095136 mRNA. Translation: BAC04491.1. BC022548 mRNA. Translation: AAH22548.2.
IPI	IPI00182545. IPI00396081.
RefSeq	NP_660356.2.
UniGene	Hs.125293
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000198915. Homo sapiens. [Contig view]
GeneID	221002.
KEGG	hsa:221002.
Organism-specific databases
GeneCards	GC10M043009.
HGNC	HGNC:24246. RASGEF1A.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8N9B8.
HOVERGEN	Q8N9B8.
OMA	Q8N9B8. INFKKFW.
Gene expression databases
ArrayExpress	Q8N9B8.
Bgee	Q8N9B8.
CleanEx	HS_RASGEF1A.
Family and domain databases
InterPro	IPR019804. Ras_G-nucl-exch_fac_CS. IPR008937. Ras_GEF. IPR000651. RasGef_N. IPR001895. RasGRF_CDC25. [Graphical view]
Gene3D	G3DSA:1.10.840.10. RasGRF_CDC25. 1 hit.
PANTHER	PTHR23113. Ras_GEF. 1 hit.
Pfam	PF00617. RasGEF. 1 hit. PF00618. RasGEF_N. 1 hit. [Graphical view]
SMART	SM00147. RasGEF. 1 hit. SM00229. RasGEFN. 1 hit. [Graphical view]
PROSITE	PS00720. RASGEF. False negative. PS50009. RASGEF_CAT. 1 hit. PS50212. RASGEF_NTER. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	91141.

Entry information

Entry name

RGF1A_HUMAN

Accession

Primary (citable) accession number: Q8N9B8
Secondary accession number(s): Q8TBF1

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 21, 2007
Last sequence update:	August 21, 2007
Last modified:	June 16, 2009
This is version 41 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)