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Q4KMZ1

- IQCC_HUMAN

UniProt

Q4KMZ1 - IQCC_HUMAN

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Protein
IQ domain-containing protein C
Gene
IQCC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
IQ domain-containing protein C
Gene namesi
Name:IQCC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:25545. IQCC.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134868161.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 466466IQ domain-containing protein C
PRO_0000282545Add
BLAST

Proteomic databases

PaxDbiQ4KMZ1.
PRIDEiQ4KMZ1.

PTM databases

PhosphoSiteiQ4KMZ1.

Expressioni

Gene expression databases

BgeeiQ4KMZ1.
CleanExiHS_IQCC.
GenevestigatoriQ4KMZ1.

Organism-specific databases

HPAiHPA028602.
HPA028686.

Interactioni

Protein-protein interaction databases

BioGridi120843. 1 interaction.
STRINGi9606.ENSP00000291358.

Structurei

3D structure databases

ProteinModelPortaliQ4KMZ1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini6 – 3530IQ
Add
BLAST

Sequence similaritiesi

Contains 1 IQ domain.

Phylogenomic databases

eggNOGiNOG28569.
HOGENOMiHOG000113096.
HOVERGENiHBG103168.
InParanoidiQ4KMZ1.
OMAiCVRGFLV.
OrthoDBiEOG7288QW.
PhylomeDBiQ4KMZ1.
TreeFamiTF330928.

Family and domain databases

InterProiIPR000048. IQ_motif_EF-hand-BS.
[Graphical view]
SMARTiSM00015. IQ. 1 hit.
[Graphical view]
PROSITEiPS50096. IQ. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q4KMZ1-1) [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

MEPELLVRKV SALQACVRGF LVRRQFQSLR AEYEAIVREV EGDLGTLQWT    50
EGRIPRPRFL PEKAKSHQTW KAGDRVANPE QGLWNHFPCE ESEGEATWEE 100
MVLKKSGESS ANQGSLCRDH SSWLQMKQNR KPSQEKTRDT TRMENPEATD 150
QRLPHSQPQL QELQYHRSHL AMELLWLQQA INSRKEYLLL KQTLRSPEAG 200
PIREEPRVFL EHGEQACERD QSQPSAPLED QSYRDRTTGE LEQEDDSCHR 250
VKSPHRSPGS LATTQKNIAG AKCREPCYSK SGPPSSIPSN SQALGDRLTK 300
GPDDGRQTFG GTCLLQMKIL EDQTPRGLKP RNHCPRKSRT QLSALYEDSN 350
IKEMSPRKLD HKEPDCRTVR TQELGLSEDH IIWDGTLGGP EHSVLDLWRT 400
KPPKGQAPTD RSSRDGTSNE PSHEGQKKQR TIPWRSKSPE ILSSTKAGCT 450
GEEQWRGRPW KTEPPG 466
Length:466
Mass (Da):53,032
Last modified:April 3, 2007 - v2
Checksum:i7282732CE4FA4F83
GO
Isoform 2 (identifier: Q4KMZ1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     231-466: Missing.

Note: No experimental confirmation available.

Show »
Length:230
Mass (Da):26,719
Checksum:iB348209BE081E09D
GO
Isoform 3 (identifier: Q4KMZ1-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     14-14: Q → QVRGRARGSQ...PDQGNGKSLK

Note: No experimental confirmation available.

Show »
Length:546
Mass (Da):61,966
Checksum:iC765EBDA9BC8DF82
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti209 – 2091F → C.1 Publication
Corresponds to variant rs3903683 [ dbSNP | Ensembl ].
VAR_031411
Natural varianti217 – 2171C → Y.1 Publication
Corresponds to variant rs12032332 [ dbSNP | Ensembl ].
VAR_031412
Natural varianti464 – 4641P → L.1 Publication
Corresponds to variant rs41306593 [ dbSNP | Ensembl ].
VAR_031413

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei14 – 141Q → QVRGRARGSQDFSFREIMGS RTWTSQRDATTFSPLTARQP LEIPAVPNRAEESWDPRTPC PARPHSHHTLAPDQGNGKSL K in isoform 3.
VSP_046123
Alternative sequencei231 – 466236Missing in isoform 2.
VSP_024176Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti201 – 2011P → S in BAA91674. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS355.1. [Q4KMZ1-1]
CCDS53293.1. [Q4KMZ1-3]
RefSeqiNP_001153514.1. NM_001160042.1. [Q4KMZ1-3]
NP_060604.2. NM_018134.2. [Q4KMZ1-1]
UniGeneiHs.274356.

Genome annotation databases

EnsembliENST00000291358; ENSP00000291358; ENSG00000160051. [Q4KMZ1-1]
ENST00000537469; ENSP00000442291; ENSG00000160051. [Q4KMZ1-3]
GeneIDi55721.
KEGGihsa:55721.
UCSCiuc001bum.2. human. [Q4KMZ1-1]

Polymorphism databases

DMDMi143339942.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS355.1. [Q4KMZ1-1 ]
CCDS53293.1. [Q4KMZ1-3 ]
RefSeqi NP_001153514.1. NM_001160042.1. [Q4KMZ1-3 ]
NP_060604.2. NM_018134.2. [Q4KMZ1-1 ]
UniGenei Hs.274356.

3D structure databases

ProteinModelPortali Q4KMZ1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120843. 1 interaction.
STRINGi 9606.ENSP00000291358.

PTM databases

PhosphoSitei Q4KMZ1.

Polymorphism databases

DMDMi 143339942.

Proteomic databases

PaxDbi Q4KMZ1.
PRIDEi Q4KMZ1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000291358 ; ENSP00000291358 ; ENSG00000160051 . [Q4KMZ1-1 ]
ENST00000537469 ; ENSP00000442291 ; ENSG00000160051 . [Q4KMZ1-3 ]
GeneIDi 55721.
KEGGi hsa:55721.
UCSCi uc001bum.2. human. [Q4KMZ1-1 ]

Organism-specific databases

CTDi 55721.
GeneCardsi GC01P032671.
HGNCi HGNC:25545. IQCC.
HPAi HPA028602.
HPA028686.
neXtProti NX_Q4KMZ1.
PharmGKBi PA134868161.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG28569.
HOGENOMi HOG000113096.
HOVERGENi HBG103168.
InParanoidi Q4KMZ1.
OMAi CVRGFLV.
OrthoDBi EOG7288QW.
PhylomeDBi Q4KMZ1.
TreeFami TF330928.

Miscellaneous databases

GenomeRNAii 55721.
NextBioi 60623.
PROi Q4KMZ1.

Gene expression databases

Bgeei Q4KMZ1.
CleanExi HS_IQCC.
Genevestigatori Q4KMZ1.

Family and domain databases

InterProi IPR000048. IQ_motif_EF-hand-BS.
[Graphical view ]
SMARTi SM00015. IQ. 1 hit.
[Graphical view ]
PROSITEi PS50096. IQ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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 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.
    , 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.

Entry informationi

Entry nameiIQCC_HUMAN
AccessioniPrimary (citable) accession number: Q4KMZ1
Secondary accession number(s): F5H7T8
, Q4KMS3, Q4KMZ5, Q53FL2, Q5TFJ8, Q9NVS3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: July 9, 2014
This is version 66 of the entry and version 2 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 1
    Human chromosome 1: 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

External Data

Dasty 3

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