Q86XH1 (IQCA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
IQ and AAA domain-containing protein 1

Gene names

Name:	IQCA1
Synonyms:	IQCA

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	822 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Belongs to the AAA ATPase family. Contains 1 IQ domain.
Sequence caution	The sequence BAB15384.1 differs from that shown. Reason: Frameshift at position 802. The sequence BAB15384.1 differs from that shown. Reason: Chimeric cDNA. The sequence BAB70798.1 differs from that shown. Reason: Unlikely isoform. Aberrant splice sites.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Nucleotide-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	ATP binding 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: Q86XH1-1)

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: Q86XH1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     470-470: D → DK
     653-678: NEPKRLKKHLPQILKLLKPDDRILIV → FTPSAGEVAALQKNLKRSTSRMNLNA
     679-822: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 822	822	IQ and AAA domain-containing protein 1		PRO_0000283572
Regions
	Domain	207 – 236	30	IQ
	Nucleotide binding	575 – 582	8	ATP Potential
	Compositional bias	351 – 487	137	Lys-rich
Natural variations
	Alternative sequence	470	1	D → DK in isoform 2.		VSP_024327
	Alternative sequence	653 – 678	26	NEPKR…RILIV → FTPSAGEVAALQKNLKRSTS RMNLNA in isoform 2.		VSP_024330
	Alternative sequence	679 – 822	144	Missing in isoform 2.		VSP_024331
	Natural variant	8	1	K → M. Corresponds to variant rs35114730 [ dbSNP | Ensembl ].		VAR_060983
	Natural variant	362	1	Q → R. Corresponds to variant rs3754644 [ dbSNP | Ensembl ].		VAR_060984
	Natural variant	452	1	K → R. Corresponds to variant rs10204742 [ dbSNP | Ensembl ].		VAR_031495
Experimental info
	Sequence conflict	199	1	M → I in BAB70798. Ref.3
	Sequence conflict	250	1	S → G in BAB70798. Ref.3
	Sequence conflict	816	1	K → R in BAB15384. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2003. Version 1. Checksum: 0318214614A39399	FASTA	822	95,341
	10 20 30 40 50 60 MSNAMYNKMW HQTQEALGAL LDKEPQKMIE PQRNQVFIFQ TLATFYVKYV QIFRNLENVY 70 80 90 100 110 120 DQFVHPQKRI LIRKVLDGVM GRILELKNEM VELELTEFHY FDDILQDLKL APQQLDIPIP 130 140 150 160 170 180 KYFLKEKLEV IKGREKILAQ ILADSGIDTS DMKYPVKSIP FDEAVKLIQI AERARQGRLR 190 200 210 220 230 240 ALFMKQIYLQ EYRAKQSKML GKKVTDTWAA ALRIQKVWRR FHQRKETEKL REEEMIFLGM 250 260 270 280 290 300 NPPPLFNEVS ATVIQAEKVD RLRNEVQIKH EEDYREALVT IKNDLKLIEG VDIKENLQDQ 310 320 330 340 350 360 IRHWFIECRN LTGTFPDYPD VEEGGSAIIF SDKTIQQVIE DIIANQEEEE KNKKKKKKKE 370 380 390 400 410 420 KQPKKAKKQK KGTKEKNKEE DEKWKMSPSL FLPAMKEGCN AYKEIWMKKD ESWNFSQDYD 430 440 450 460 470 480 PELIKEEKRK ELQSEIRIQV DELMRQELKN LKLAVDRERE RPVKAGKKKD KKGKKGKKKE 490 500 510 520 530 540 KKAKKDKDLT ADRTIESLYK ELVEEGLLIQ ALKVNLSDYI GEYSYLGTTL RQVSIEPMPS 550 560 570 580 590 600 LLDVRQLITL YGIWPLGSAA VHEKAPLVKS LLLAGPSGVG KKMLVHAICT ETGANLFNLS 610 620 630 640 650 660 SSNIAGKYPG KNGLQMMLHA VFKVARQLQP SVVWIEDTEK TFYKKVPNAE KMNEPKRLKK 670 680 690 700 710 720 HLPQILKLLK PDDRILIVGT TRRPFDAELQ SFCKVYQKII LVPRPDYASR YVLWKQIIER 730 740 750 760 770 780 NGGVLTSALN VSCLAKVTDG FTQGHIVEVV KGVLTDQRIR RQIHKPLTAV EFITAITSMN 790 800 810 820 PVYKEEEESF KNWYAKTPLG KKRALAITGG STEKAKDKGK RK
	Isoform 2 [UniParc]. Checksum: C06C6A000FF6F7BE	FASTA	679	78,905
	10 20 30 40 50 60 MSNAMYNKMW HQTQEALGAL LDKEPQKMIE PQRNQVFIFQ TLATFYVKYV QIFRNLENVY 70 80 90 100 110 120 DQFVHPQKRI LIRKVLDGVM GRILELKNEM VELELTEFHY FDDILQDLKL APQQLDIPIP 130 140 150 160 170 180 KYFLKEKLEV IKGREKILAQ ILADSGIDTS DMKYPVKSIP FDEAVKLIQI AERARQGRLR 190 200 210 220 230 240 ALFMKQIYLQ EYRAKQSKML GKKVTDTWAA ALRIQKVWRR FHQRKETEKL REEEMIFLGM 250 260 270 280 290 300 NPPPLFNEVS ATVIQAEKVD RLRNEVQIKH EEDYREALVT IKNDLKLIEG VDIKENLQDQ 310 320 330 340 350 360 IRHWFIECRN LTGTFPDYPD VEEGGSAIIF SDKTIQQVIE DIIANQEEEE KNKKKKKKKE 370 380 390 400 410 420 KQPKKAKKQK KGTKEKNKEE DEKWKMSPSL FLPAMKEGCN AYKEIWMKKD ESWNFSQDYD 430 440 450 460 470 480 PELIKEEKRK ELQSEIRIQV DELMRQELKN LKLAVDRERE RPVKAGKKKD KKKGKKGKKK 490 500 510 520 530 540 EKKAKKDKDL TADRTIESLY KELVEEGLLI QALKVNLSDY IGEYSYLGTT LRQVSIEPMP 550 560 570 580 590 600 SLLDVRQLIT LYGIWPLGSA AVHEKAPLVK SLLLAGPSGV GKKMLVHAIC TETGANLFNL 610 620 630 640 650 660 SSSNIAGKYP GKNGLQMMLH AVFKVARQLQ PSVVWIEDTE KTFYKKVPNA EKMFTPSAGE 670 VAALQKNLKR STSRMNLNA

References

[1]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORMS 1 AND 2). Tissue: Brain and Testis.
[3]	"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] OF 1-516 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 473-822 (ISOFORM 1). Tissue: Cerebellum.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC019068 Genomic DNA. No translation available. AC079611 Genomic DNA. Translation: AAX93085.1. AC093915 Genomic DNA. Translation: AAY24064.1. BC028699 mRNA. Translation: AAH28699.1. BC043504 mRNA. Translation: AAH43504.1. AK026180 mRNA. Translation: BAB15384.1. Sequence problems. AK054711 mRNA. Translation: BAB70798.1. Sequence problems.
IPI	IPI00413266. IPI00916027.
RefSeq	NP_079002.3. NM_024726.3.
UniGene	Hs.591594. Hs.621320. Hs.711488.
3D structure databases
ProteinModelPortal	Q86XH1.
SMR	Q86XH1. Positions 499-794.
ModBase	Search...
Protein-protein interaction databases
STRING	Q86XH1.
PTM databases
PhosphoSite	Q86XH1.
Polymorphism databases
DMDM	74727830.
Proteomic databases
PRIDE	Q86XH1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000409907; ENSP00000387347; ENSG00000132321.
GeneID	79781.
KEGG	hsa:79781.
UCSC	uc002vvz.1. human. uc002vwb.1. human.
Organism-specific databases
CTD	79781.
GeneCards	GC02M237232.
HGNC	HGNC:26195. IQCA1.
HPA	HPA031548.
neXtProt	NX_Q86XH1.
PharmGKB	PA162392257.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16933.
GeneTree	ENSGT00570000078874.
OrthoDB	EOG40VVP3.
Gene expression databases
ArrayExpress	Q86XH1.
Bgee	Q86XH1.
CleanEx	HS_IQCA1.
Genevestigator	Q86XH1.
Family and domain databases
InterPro	IPR003959. ATPase_AAA_core. IPR000048. IQ_motif_EF-hand-BS. [Graphical view]
Pfam	PF00004. AAA. 1 hit. [Graphical view]
SMART	SM00015. IQ. 1 hit. [Graphical view]
PROSITE	PS00674. AAA. False negative. PS50096. IQ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	69281.

Entry information

Entry name

IQCA1_HUMAN

Accession

Primary (citable) accession number: Q86XH1
Secondary accession number(s): Q4G164 , Q53R37, Q53RV3, Q96NS7, Q9H680

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
Last sequence update:	June 1, 2003
Last modified:	January 25, 2012
This is version 71 of the entry and version 1 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.