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Q9UPP2 (IQEC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
IQ motif and SEC7 domain-containing protein 3
Gene names
Name:IQSEC3
Synonyms:KIAA1110
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1182 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11821182IQ motif and SEC7 domain-containing protein 3
PRO_0000245610

Regions

Domain315 – 34430IQ
Domain644 – 837194SEC7
Domain850 – 983134PH
Coiled coil20 – 5637 Potential
Coiled coil964 – 99229 Potential
Compositional bias78 – 9013Poly-Ala
Compositional bias225 – 2317Poly-Ala
Compositional bias248 – 2514Poly-Glu
Compositional bias572 – 5798Poly-Glu
Compositional bias598 – 6036Poly-Ser
Compositional bias1061 – 1165105Pro-rich

Natural variations

Alternative sequence1 – 303303Missing in isoform 2.
VSP_035695
Alternative sequence1040 – 106223SIHNR…RGAPV → LINASPARLTILPISRDTIK SYC in isoform 2.
VSP_035696
Alternative sequence1063 – 1182120Missing in isoform 2.
VSP_035697
Natural variant5581A → G. Ref.4
Corresponds to variant rs56204927 [ dbSNP | Ensembl ].
VAR_061789

Experimental info

Sequence conflict311T → S in AAH24764. Ref.3
Sequence conflict2831P → S in BC042067. Ref.3
Sequence conflict3971E → K in AK091953. Ref.1
Sequence conflict4651D → G in BAA83062. Ref.4
Sequence conflict4761A → T in AK091953. Ref.1
Sequence conflict5141Q → H in AK091953. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 3.
Checksum: CA03171E62C19E07

FASTA1,182127,621
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 38426830313647B9
Show »

FASTA75983,143

References

« Hide '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. 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 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. expand/collapse author list , 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.
CCDSCCDS31725.1. [Q9UPP2-2]
CCDS53728.1. [Q9UPP2-1]
RefSeqNP_001164209.1. NM_001170738.1. [Q9UPP2-1]
NP_056047.1. NM_015232.1. [Q9UPP2-2]
UniGeneHs.536319.

3D structure databases

ProteinModelPortalQ9UPP2.
SMRQ9UPP2. Positions 645-996.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000372292.

PTM databases

PhosphoSiteQ9UPP2.

Polymorphism databases

DMDM215274117.

Proteomic databases

PaxDbQ9UPP2.
PRIDEQ9UPP2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326261; ENSP00000315662; ENSG00000120645. [Q9UPP2-1]
ENST00000382841; ENSP00000372292; ENSG00000120645. [Q9UPP2-2]
ENST00000538872; ENSP00000437554; ENSG00000120645. [Q9UPP2-1]
ENST00000567353; ENSP00000456630; ENSG00000261772. [Q9UPP2-2]
ENST00000568103; ENSP00000456180; ENSG00000261772. [Q9UPP2-1]
ENST00000571363; ENSP00000461043; ENSG00000262607. [Q9UPP2-2]
ENST00000575724; ENSP00000461496; ENSG00000262607. [Q9UPP2-1]
GeneID440073.
KEGGhsa:440073.
UCSCuc001qhu.1. human. [Q9UPP2-2]
uc001qhw.2. human. [Q9UPP2-1]

Organism-specific databases

CTD440073.
GeneCardsGC12P000176.
HGNCHGNC:29193. IQSEC3.
HPAHPA039025.
MIM612118. gene.
neXtProtNX_Q9UPP2.
PharmGKBPA134990290.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5307.
HOGENOMHOG000113099.
HOVERGENHBG056324.
InParanoidQ9UPP2.
KOK12495.
OMAQTYQHNS.
OrthoDBEOG7SR4KP.
PhylomeDBQ9UPP2.
TreeFamTF323811.

Gene expression databases

BgeeQ9UPP2.
CleanExHS_IQSEC3.
GenevestigatorQ9UPP2.

Family and domain databases

Gene3D1.10.1000.11. 1 hit.
2.30.29.30. 1 hit.
InterProIPR000048. IQ_motif_EF-hand-BS.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR023394. Sec7_alpha_orthog.
IPR000904. Sec7_dom.
[Graphical view]
PfamPF01369. Sec7. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00222. Sec7. 1 hit.
[Graphical view]
SUPFAMSSF48425. SSF48425. 1 hit.
PROSITEPS50096. IQ. 1 hit.
PS50190. SEC7. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSIQSEC3. human.
GenomeRNAi440073.
NextBio108902.
PROQ9UPP2.
SOURCESearch...

Entry information

Entry nameIQEC3_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 103 of the entry and version 3 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 12

Human chromosome 12: entries, gene names and cross-references to MIM