Q9UPP2 (IQEC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
IQ motif and SEC7 domain-containing protein 3

Gene names

Name:	IQSEC3
Synonyms:	KIAA1110

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1182 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Acts as a guanine nucleotide exchange factor (GEF) for ARF1. Ref.5
Subunit structure	Interacts with DLG1 and DLG4 By similarity.
Subcellular location	Cytoplasm Ref.5.
Tissue specificity	Expressed specifically in the adult brain, predominantly in the cerebral cortex and the olfactory bulb, but not in the fetal brain. Expressed only in mature neurons, but not in undifferentiated neural stem precursor cells (NSPCs), nor in glioma cells. Ref.5
Sequence similarities	Belongs to the BRAG family. Contains 1 IQ domain. Contains 1 PH domain. Contains 1 SEC7 domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	actin cytoskeleton organization Inferred from Biological aspect of Ancestor. Source: RefGenome regulation of ARF protein signal transduction Inferred from electronic annotation. Source: InterPro
Cellular_component	cell junction Inferred from Biological aspect of Ancestor. Source: RefGenome cytoplasm Inferred from direct assay. Source: HPA inhibitory synapse Inferred from electronic annotation. Source: Compara nucleus Inferred from direct assay. Source: HPA postsynaptic membrane Inferred from electronic annotation. Source: Compara
Molecular_function	ARF guanyl-nucleotide exchange factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q9UPP2-1)

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: Q9UPP2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-303: Missing.
     1040-1062: SIHNRLQTSQHNSGLGAERGAPV → LINASPARLTILPISRDTIKSYC
     1063-1182: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1182	1182	IQ motif and SEC7 domain-containing protein 3		PRO_0000245610
Regions
	Domain	315 – 344	30	IQ
	Domain	644 – 837	194	SEC7
	Domain	850 – 983	134	PH
	Coiled coil	20 – 56	37	Potential
	Coiled coil	964 – 992	29	Potential
	Compositional bias	78 – 90	13	Poly-Ala
	Compositional bias	225 – 231	7	Poly-Ala
	Compositional bias	248 – 251	4	Poly-Glu
	Compositional bias	572 – 579	8	Poly-Glu
	Compositional bias	598 – 603	6	Poly-Ser
	Compositional bias	1061 – 1165	105	Pro-rich
Amino acid modifications
	Modified residue	649	1	Phosphothreonine By similarity
	Modified residue	1019	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 303	303	Missing in isoform 2.		VSP_035695
	Alternative sequence	1040 – 1062	23	SIHNR…RGAPV → LINASPARLTILPISRDTIK SYC in isoform 2.		VSP_035696
	Alternative sequence	1063 – 1182	120	Missing in isoform 2.		VSP_035697
	Natural variant	558	1	A → G. Ref.4 Corresponds to variant rs56204927 [ dbSNP | Ensembl ].		VAR_061789
Experimental info
	Sequence conflict	31	1	T → S in AAH24764. Ref.3
	Sequence conflict	283	1	P → S in BC042067. Ref.3
	Sequence conflict	397	1	E → K in AK091953. Ref.1
	Sequence conflict	465	1	D → G in BAA83062. Ref.4
	Sequence conflict	476	1	A → T in AK091953. Ref.1
	Sequence conflict	514	1	Q → H in AK091953. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 3. Checksum: CA03171E62C19E07	FASTA	1,182	127,621
	10 20 30 40 50 60 MESLLENPVR AVLYLKELTA IVQNQQSLIH TQRERIDELE RRLDELSAEN RSLWEHQQLL 70 80 90 100 110 120 QAQPPPGLVP PSSAPLPAAP ATAPAAAARA QEPLQDQGQR SAAAPHPAPD RPPRQHHGQL 130 140 150 160 170 180 LEQPQRGPGS RAHTPQSPHK HLGTQGAVTD KEKERPPSCC AAAGALLQHK SPSALGKGVL 190 200 210 220 230 240 SRRPENETVL HQFCCPAADA CSDLASQSDG SCTQAGGGME DSVVAAAAVA AGRPSAHAPK 250 260 270 280 290 300 AQAQELQEEE ERPGAGAASP RAGPQHKASP GRQQPALATA LCPHAPAASD YELSLDLKNK 310 320 330 340 350 360 QIEMLEHKYG GHLVSRRAAC TIQTAFRQYQ LSKNFEKIRN SLLESRLPRR ISLRKVRSPT 370 380 390 400 410 420 AESLAAEKAL MEGYGLVGLP LVRSPSLPPT FAGTLTELED SFTEQVQSLA KSIDDALSTW 430 440 450 460 470 480 SLKTMCSLRE SGAYQLHQAL QAAAGPPGLE AEGRAPESAG PGPGDDAAET PGLPPAHSGT 490 500 510 520 530 540 LMMAFRDVTV QIANQNISVS SSTALSVANC LGAQTVQAPA EPAAGKAEQG ETSGREAPEA 550 560 570 580 590 600 PAVGREDASA EDSCAEAAAS GAADGATAPK TEEEEEEEET AEVGRGAEAE AGDLEQLSSS 610 620 630 640 650 660 STSTKSAKSG SEASASASKD ALQAMILSLP RYHCENPASC KSPTLSTDTL RKRLYRIGLN 670 680 690 700 710 720 LFNINPDKGI QFLISRGFIP DTPIGVAHFL LQRKGLSRQM IGEFLGNSKK QFNRDVLDCV 730 740 750 760 770 780 VDEMDFSSME LDEALRKFQA HIRVQGEAQK VERLIEAFSQ RYCMCNPEVV QQFHNPDTIF 790 800 810 820 830 840 ILAFAIILLN TDMYSPNIKP DRKMMLEDFI RNLRGVDDGA DIPRELVVGI YERIQQKELK 850 860 870 880 890 900 SNEDHVTYVT KVEKSIVGMK TVLSVPHRRL VCCSRLFEVT DVNKLQKQAA HQREVFLFND 910 920 930 940 950 960 LLVILKLCPK KKSSSTYTFC KSVGLLGMQF QLFENEYYSH GITLVTPLSG SEKKQVLHFC 970 980 990 1000 1010 1020 ALGSDEMQKF VEDLKESIAE VTELEQIRIE WELEKQQGTK TLSFKPCGAQ GDPQSKQGSP 1030 1040 1050 1060 1070 1080 TAKREAALRE RPAESTVEVS IHNRLQTSQH NSGLGAERGA PVPPPDLQPS PPRQQTPPLP 1090 1100 1110 1120 1130 1140 PPPPTPPGTL VQCQQIVKVI VLDKPCLARM EPLLSQALSC YTSSSSDSCG STPLGGPGSP 1150 1160 1170 1180 VKVTHQPPLP PPPPPYNHPH QFCPPGSLLH GHRYSSGSRS LV
	Isoform 2 [UniParc]. Checksum: 38426830313647B9	FASTA	759	83,143
	10 20 30 40 50 60 MLEHKYGGHL VSRRAACTIQ TAFRQYQLSK NFEKIRNSLL ESRLPRRISL RKVRSPTAES 70 80 90 100 110 120 LAAEKALMEG YGLVGLPLVR SPSLPPTFAG TLTELEDSFT EQVQSLAKSI DDALSTWSLK 130 140 150 160 170 180 TMCSLRESGA YQLHQALQAA AGPPGLEAEG RAPESAGPGP GDDAAETPGL PPAHSGTLMM 190 200 210 220 230 240 AFRDVTVQIA NQNISVSSST ALSVANCLGA QTVQAPAEPA AGKAEQGETS GREAPEAPAV 250 260 270 280 290 300 GREDASAEDS CAEAAASGAA DGATAPKTEE EEEEEETAEV GRGAEAEAGD LEQLSSSSTS 310 320 330 340 350 360 TKSAKSGSEA SASASKDALQ AMILSLPRYH CENPASCKSP TLSTDTLRKR LYRIGLNLFN 370 380 390 400 410 420 INPDKGIQFL ISRGFIPDTP IGVAHFLLQR KGLSRQMIGE FLGNSKKQFN RDVLDCVVDE 430 440 450 460 470 480 MDFSSMELDE ALRKFQAHIR VQGEAQKVER LIEAFSQRYC MCNPEVVQQF HNPDTIFILA 490 500 510 520 530 540 FAIILLNTDM YSPNIKPDRK MMLEDFIRNL RGVDDGADIP RELVVGIYER IQQKELKSNE 550 560 570 580 590 600 DHVTYVTKVE KSIVGMKTVL SVPHRRLVCC SRLFEVTDVN KLQKQAAHQR EVFLFNDLLV 610 620 630 640 650 660 ILKLCPKKKS SSTYTFCKSV GLLGMQFQLF ENEYYSHGIT LVTPLSGSEK KQVLHFCALG 670 680 690 700 710 720 SDEMQKFVED LKESIAEVTE LEQIRIEWEL EKQQGTKTLS FKPCGAQGDP QSKQGSPTAK 730 740 750 REAALRERPA ESTVEVLINA SPARLTILPI SRDTIKSYC

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[2]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] (ISOFORM 1). Tissue: Brain.
[4]	"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 443-1182 (ISOFORM 1), VARIANT GLY-558. Tissue: Brain.
[5]	"Identification of a neuron-specific human gene, KIAA1110, that is a guanine nucleotide exchange factor for ARF1." Hattori Y., Ohta S., Hamada K., Yamada-Okabe H., Kanemura Y., Matsuzaki Y., Okano H., Kawakami Y., Toda M. Biochem. Biophys. Res. Commun. 364:737-742(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK091953 mRNA. No translation available. AC007406 Genomic DNA. No translation available. AC026369 Genomic DNA. No translation available. BC024764 mRNA. Translation: AAH24764.1. BC042067 mRNA. No translation available. AB029033 mRNA. Translation: BAA83062.1.
IPI	IPI00398940. IPI00829917.
RefSeq	NP_001164209.1. NM_001170738.1. NP_056047.1. NM_015232.1.
UniGene	Hs.536319.
3D structure databases
ProteinModelPortal	Q9UPP2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000372292.
PTM databases
PhosphoSite	Q9UPP2.
Polymorphism databases
DMDM	215274117.
Proteomic databases
PaxDb	Q9UPP2.
PRIDE	Q9UPP2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000326261; ENSP00000315662; ENSG00000120645. ENST00000382841; ENSP00000372292; ENSG00000120645. ENST00000538872; ENSP00000437554; ENSG00000120645. ENST00000567353; ENSP00000456630; ENSG00000261772. ENST00000568103; ENSP00000456180; ENSG00000261772. ENST00000571363; ENSP00000461043; ENSG00000262607. ENST00000575724; ENSP00000461496; ENSG00000262607.
GeneID	440073.
KEGG	hsa:440073.
UCSC	uc001qhu.1. human. uc001qhw.2. human.
Organism-specific databases
CTD	440073.
GeneCards	GC12P000176.
HGNC	HGNC:29193. IQSEC3.
HPA	HPA039025.
MIM	612118. gene.
neXtProt	NX_Q9UPP2.
PharmGKB	PA134990290.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5307.
HOGENOM	HOG000113099.
HOVERGEN	HBG056324.
InParanoid	Q9UPP2.
KO	K12495.
OMA	MDFSNME.
OrthoDB	EOG49S65Q.
Gene expression databases
Bgee	Q9UPP2.
CleanEx	HS_IQSEC3.
Genevestigator	Q9UPP2.
GermOnline	ENSG00000120645. Homo sapiens.
Family and domain databases
Gene3D	1.10.1000.11. 1 hit. 2.30.29.30. 1 hit.
InterPro	IPR000048. IQ_motif_EF-hand-BS. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR000904. Sec7. IPR023394. SEC7_alpha_orthog. [Graphical view]
Pfam	PF01369. Sec7. 1 hit. [Graphical view]
SMART	SM00233. PH. 1 hit. SM00222. Sec7. 1 hit. [Graphical view]
SUPFAM	SSF48425. Sec7. 1 hit.
PROSITE	PS50096. IQ. 1 hit. PS50003. PH_DOMAIN. False negative. PS50190. SEC7. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	IQSEC3. human.
GenomeRNAi	440073.
NextBio	108902.
SOURCE	Search...

Entry information

Entry name

IQEC3_HUMAN

Accession

Primary (citable) accession number: Q9UPP2
Secondary accession number(s): A6NIF2, A6NKV9, Q8TB43

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2006
Last sequence update:	November 25, 2008
Last modified:	May 1, 2013
This is version 92 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.