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Q4KMZ1 (IQCC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 64. 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:
IQ domain-containing protein C
Gene names
Name:IQCC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length466 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 IQ domain.

Sequence caution

The sequence AK307853 differs from that shown. Reason: Erroneous termination at position 323. Translated as Gln.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q4KMZ1-1)

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: Q4KMZ1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     231-466: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q4KMZ1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     14-14: Q → QVRGRARGSQ...PDQGNGKSLK
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 466466IQ domain-containing protein C
PRO_0000282545

Regions

Domain6 – 3530IQ

Natural variations

Alternative sequence141Q → QVRGRARGSQDFSFREIMGS RTWTSQRDATTFSPLTARQP LEIPAVPNRAEESWDPRTPC PARPHSHHTLAPDQGNGKSL K in isoform 3.
VSP_046123
Alternative sequence231 – 466236Missing in isoform 2.
VSP_024176
Natural variant2091F → C. Ref.2
Corresponds to variant rs3903683 [ dbSNP | Ensembl ].
VAR_031411
Natural variant2171C → Y. Ref.4
Corresponds to variant rs12032332 [ dbSNP | Ensembl ].
VAR_031412
Natural variant4641P → L. Ref.4
Corresponds to variant rs41306593 [ dbSNP | Ensembl ].
VAR_031413

Experimental info

Sequence conflict2011P → S in BAA91674. Ref.1

Sequences

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

Last modified April 3, 2007. Version 2.
Checksum: 7282732CE4FA4F83

FASTA46653,032
        10         20         30         40         50         60 
MEPELLVRKV SALQACVRGF LVRRQFQSLR AEYEAIVREV EGDLGTLQWT EGRIPRPRFL 

        70         80         90        100        110        120 
PEKAKSHQTW KAGDRVANPE QGLWNHFPCE ESEGEATWEE MVLKKSGESS ANQGSLCRDH 

       130        140        150        160        170        180 
SSWLQMKQNR KPSQEKTRDT TRMENPEATD QRLPHSQPQL QELQYHRSHL AMELLWLQQA 

       190        200        210        220        230        240 
INSRKEYLLL KQTLRSPEAG PIREEPRVFL EHGEQACERD QSQPSAPLED QSYRDRTTGE 

       250        260        270        280        290        300 
LEQEDDSCHR VKSPHRSPGS LATTQKNIAG AKCREPCYSK SGPPSSIPSN SQALGDRLTK 

       310        320        330        340        350        360 
GPDDGRQTFG GTCLLQMKIL EDQTPRGLKP RNHCPRKSRT QLSALYEDSN IKEMSPRKLD 

       370        380        390        400        410        420 
HKEPDCRTVR TQELGLSEDH IIWDGTLGGP EHSVLDLWRT KPPKGQAPTD RSSRDGTSNE 

       430        440        450        460 
PSHEGQKKQR TIPWRSKSPE ILSSTKAGCT GEEQWRGRPW KTEPPG 

« Hide

Isoform 2 [UniParc].

Checksum: B348209BE081E09D
Show »

FASTA23026,719
Isoform 3 [UniParc].

Checksum: C765EBDA9BC8DF82
Show »

FASTA54661,966

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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-433 (ISOFORM 3).
Tissue: Caudate nucleus.
[2]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT CYS-209.
Tissue: Synovium.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [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), VARIANTS TYR-217 AND LEU-464.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK001409 mRNA. Translation: BAA91674.1.
AK307853 mRNA. No translation available.
AK223272 mRNA. Translation: BAD96992.1.
AL049795 Genomic DNA. Translation: CAI22058.1.
BC098250 mRNA. Translation: AAH98250.1.
BC098260 mRNA. Translation: AAH98260.1.
BC098317 mRNA. Translation: AAH98317.1.
BC098366 mRNA. Translation: AAH98366.1.
RefSeqNP_001153514.1. NM_001160042.1.
NP_060604.2. NM_018134.2.
UniGeneHs.274356.

3D structure databases

ProteinModelPortalQ4KMZ1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120843. 1 interaction.
STRING9606.ENSP00000291358.

PTM databases

PhosphoSiteQ4KMZ1.

Polymorphism databases

DMDM143339942.

Proteomic databases

PaxDbQ4KMZ1.
PRIDEQ4KMZ1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000291358; ENSP00000291358; ENSG00000160051. [Q4KMZ1-1]
ENST00000537469; ENSP00000442291; ENSG00000160051. [Q4KMZ1-3]
GeneID55721.
KEGGhsa:55721.
UCSCuc001bum.2. human. [Q4KMZ1-1]

Organism-specific databases

CTD55721.
GeneCardsGC01P032671.
HGNCHGNC:25545. IQCC.
HPAHPA028602.
HPA028686.
neXtProtNX_Q4KMZ1.
PharmGKBPA134868161.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG28569.
HOGENOMHOG000113096.
HOVERGENHBG103168.
InParanoidQ4KMZ1.
OMACVRGFLV.
OrthoDBEOG7288QW.
PhylomeDBQ4KMZ1.
TreeFamTF330928.

Gene expression databases

BgeeQ4KMZ1.
CleanExHS_IQCC.
GenevestigatorQ4KMZ1.

Family and domain databases

InterProIPR000048. IQ_motif_EF-hand-BS.
[Graphical view]
SMARTSM00015. IQ. 1 hit.
[Graphical view]
PROSITEPS50096. IQ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55721.
NextBio60623.
PROQ4KMZ1.

Entry information

Entry nameIQCC_HUMAN
AccessionPrimary (citable) accession number: Q4KMZ1
Secondary accession number(s): F5H7T8 expand/collapse secondary AC list , Q4KMS3, Q4KMZ5, Q53FL2, Q5TFJ8, Q9NVS3
Entry history
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: March 19, 2014
This is version 64 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 1

Human chromosome 1: entries, gene names and cross-references to MIM