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Q86Y56 (HEAT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 108. 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:
HEAT repeat-containing protein 2
Gene names
Name:HEATR2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length855 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Cytoplasm. Note: Observed only in the cytoplasm of ciliated airway epithelial cells. Absent from cilia. Ref.10

Involvement in disease

Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Contains 10 HEAT repeats.

Sequence caution

The sequence AAH10850.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Disease mutation
Primary ciliary dyskinesia
   DomainRepeat
   PTMAcetylation
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86Y56-1)

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: Q86Y56-2)

The sequence of this isoform differs from the canonical sequence as follows:
     811-855: EVLKEGSGLF...QHVQAVPATQ → DVPGSPSPSAMIGSFLRPPHPWRTVSQLNLFSS
Note: No experimental confirmation available.
Isoform 3 (identifier: Q86Y56-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-620: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 855854HEAT repeat-containing protein 2
PRO_0000050820

Regions

Repeat71 – 10939HEAT 1
Repeat202 – 24039HEAT 2
Repeat241 – 27838HEAT 3
Repeat280 – 31839HEAT 4
Repeat354 – 37623HEAT 5
Repeat377 – 41438HEAT 6
Repeat599 – 63840HEAT 7
Repeat696 – 73439HEAT 8
Repeat738 – 77639HEAT 9
Repeat784 – 82239HEAT 10

Amino acid modifications

Modified residue21N-acetylalanine Ref.6 Ref.8 Ref.9

Natural variations

Alternative sequence1 – 620620Missing in isoform 3.
VSP_016109
Alternative sequence811 – 85545EVLKE…VPATQ → DVPGSPSPSAMIGSFLRPPH PWRTVSQLNLFSS in isoform 2.
VSP_016110
Natural variant5601R → C.
Corresponds to variant rs73258248 [ dbSNP | Ensembl ].
VAR_060463
Natural variant6321V → A.
Corresponds to variant rs4720951 [ dbSNP | Ensembl ].
VAR_056911
Natural variant7431R → K. Ref.1 Ref.3 Ref.5
Corresponds to variant rs3922641 [ dbSNP | Ensembl ].
VAR_060464
Natural variant7951L → P in CILD18. Ref.10
VAR_068969

Experimental info

Sequence conflict1281P → H in AAH47240. Ref.3
Sequence conflict419 – 4213SCT → TSS in AAH10850. Ref.3
Sequence conflict4541L → M in AAH47240. Ref.3

Sequences

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

Last modified January 11, 2011. Version 4.
Checksum: D1ED73FAEAC8F54C

FASTA85593,521
        10         20         30         40         50         60 
MAALGVAEAV AAPHPAEGAE TAEAVELSRA LSRLLPGLEA DSKPGRRRAL EALRRALEEP 

        70         80         90        100        110        120 
GPAADPTAFQ GPWARLLLPR LLRCLSDPAE GCRALAVHLL DLGLRRAARP RDALPRLLPA 

       130        140        150        160        170        180 
LAARLAGPVP ARRPPEACEE LRLALVQLLG LAVDLCGAAL APHLDDALRA LRCSLLDPFA 

       190        200        210        220        230        240 
AVRRESCSCA AALAQATPDH FHMQSESLIG PLMQTISHQH WKVRVAAIEA TGAVIHFGNG 

       250        260        270        280        290        300 
KSVDDVLSHF AQRLFDDVPQ VRRAVASVVG GWLLCLRDRY SFFHKLIPLL LSSLNDEVPE 

       310        320        330        340        350        360 
VRQLAASLWE DVGLQWQKEN EEDLKDKLDF APPTPPHYPP HERRPVLGCR ELVFRNLSKI 

       370        380        390        400        410        420 
LPALCHDITD WVVGTRVKSA QLLPVLLLHA EDHATQHLEV VLRTLFQACT DEEAAVVQSC 

       430        440        450        460        470        480 
TRSAELVGTF VSPEVFLKLI LSTLKKTPSA SGLLVLASAM RGCPREALQP HLAAIATELA 

       490        500        510        520        530        540 
QAHICQASEN DLYLERLLLC VQALVSVCHE DCGVASLQLL DVLLTIVALA GATGLRDKAQ 

       550        560        570        580        590        600 
ETMDSLAMVE GVSSCQDLYR KHIGPLLERV TASHLDWTAH SPELLQFSVI VAQSGPALGE 

       610        620        630        640        650        660 
ALPHVVPTLR ACLQPSQDPQ MRLKLFSILS TVLLRATDTI NSQGQFPSYL ETVTKDILAP 

       670        680        690        700        710        720 
NLQWHAGRTA AAIRTAAVSC LWALTSSEVL SAEQIRDVQE TLMPQVLTTL EEDSKMTRLI 

       730        740        750        760        770        780 
SCRIINTFLK TSGGMTDPEK LIRIYPELLK RLDDVSNDVR MAAASTLVTW LQCVKGANAK 

       790        800        810        820        830        840 
SYYQSSVQYL YRELLVHLDD PERAIQDAIL EVLKEGSGLF PDLLVRETEA VIHKHRSATY 

       850 
CEQLLQHVQA VPATQ 

« Hide

Isoform 2 [UniParc].

Checksum: 2C9D9B186A452568
Show »

FASTA84392,044
Isoform 3 [UniParc].

Checksum: 4B8A87065D76E953
Show »

FASTA23526,361

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 3), VARIANT LYS-743.
Tissue: Colon carcinoma.
[2]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 422-855 (ISOFORM 2), VARIANT LYS-743.
Tissue: Hippocampus and Pancreas.
[4]Bienvenut W.V.
Submitted (JUN-2005) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 94-105; 423-438; 625-655 AND 804-814, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: B-cell lymphoma.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 662-855 (ISOFORMS 1/3), VARIANT LYS-743.
Tissue: Melanoma.
[6]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia."
Horani A., Druley T.E., Zariwala M.A., Patel A.C., Levinson B.T., Van Arendonk L.G., Thornton K.C., Giacalone J.C., Albee A.J., Wilson K.S., Turner E.H., Nickerson D.A., Shendure J., Bayly P.V., Leigh M.W., Knowles M.R., Brody S.L., Dutcher S.K., Ferkol T.W.
Am. J. Hum. Genet. 91:685-693(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CILD18 PRO-795, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK000404 mRNA. Translation: BAA91142.1.
AC144411 Genomic DNA. No translation available.
BC010850 mRNA. Translation: AAH10850.1. Different initiation.
BC047240 mRNA. Translation: AAH47240.1.
AL832914 mRNA. Translation: CAH10624.2.
CCDSCCDS34580.1. [Q86Y56-1]
RefSeqNP_060272.3. NM_017802.3. [Q86Y56-1]
UniGeneHs.535896.

3D structure databases

ProteinModelPortalQ86Y56.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120260. 24 interactions.
IntActQ86Y56. 2 interactions.
MINTMINT-1391398.
STRING9606.ENSP00000297440.

PTM databases

PhosphoSiteQ86Y56.

Polymorphism databases

DMDM317373567.

Proteomic databases

MaxQBQ86Y56.
PaxDbQ86Y56.
PRIDEQ86Y56.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297440; ENSP00000297440; ENSG00000164818. [Q86Y56-1]
ENST00000313147; ENSP00000321451; ENSG00000164818. [Q86Y56-2]
GeneID54919.
KEGGhsa:54919.
UCSCuc003sjb.2. human. [Q86Y56-3]
uc010krz.1. human. [Q86Y56-1]

Organism-specific databases

CTD54919.
GeneCardsGC07P000732.
GeneReviewsHEATR2.
H-InvDBHIX0006405.
HIX0200638.
HGNCHGNC:26013. HEATR2.
HPAHPA020243.
MIM614864. gene.
614874. phenotype.
neXtProtNX_Q86Y56.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA145008229.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG29211.
HOGENOMHOG000007194.
HOVERGENHBG079488.
InParanoidQ86Y56.
OMAPEHFHMQ.
OrthoDBEOG75TMB8.
PhylomeDBQ86Y56.
TreeFamTF326738.

Gene expression databases

ArrayExpressQ86Y56.
BgeeQ86Y56.
CleanExHS_HEATR2.
GenevestigatorQ86Y56.

Family and domain databases

Gene3D1.25.10.10. 3 hits.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000357. HEAT.
IPR021133. HEAT_type_2.
[Graphical view]
PfamPF02985. HEAT. 2 hits.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
PROSITEPS50077. HEAT_REPEAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHEATR2. human.
GenomeRNAi54919.
NextBio57986.
PROQ86Y56.
SOURCESearch...

Entry information

Entry nameHEAT2_HUMAN
AccessionPrimary (citable) accession number: Q86Y56
Secondary accession number(s): Q69YL1, Q96FI9, Q9NX75
Entry history
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 108 of the entry and version 4 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 7

Human chromosome 7: entries, gene names and cross-references to MIM