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Q86Y56

- HEAT2_HUMAN

UniProt

Q86Y56 - HEAT2_HUMAN

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Protein

HEAT repeat-containing protein 2

Gene

HEATR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
HEAT repeat-containing protein 2
Gene namesi
Name:HEATR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:26013. HEATR2.

Subcellular locationi

Cytoplasm 1 Publication
Note: Observed only in the cytoplasm of ciliated airway epithelial cells. Absent from cilia.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti795 – 7951L → P in CILD18. 1 Publication
VAR_068969

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

MIMi614874. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA145008229.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed3 Publications
Chaini2 – 855854HEAT repeat-containing protein 2PRO_0000050820Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine3 Publications

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ86Y56.
PaxDbiQ86Y56.
PRIDEiQ86Y56.

PTM databases

PhosphoSiteiQ86Y56.

Expressioni

Gene expression databases

BgeeiQ86Y56.
CleanExiHS_HEATR2.
ExpressionAtlasiQ86Y56. baseline and differential.
GenevestigatoriQ86Y56.

Organism-specific databases

HPAiHPA020243.

Interactioni

Protein-protein interaction databases

BioGridi120260. 33 interactions.
IntActiQ86Y56. 2 interactions.
MINTiMINT-1391398.
STRINGi9606.ENSP00000297440.

Structurei

3D structure databases

ProteinModelPortaliQ86Y56.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati71 – 10939HEAT 1Add
BLAST
Repeati202 – 24039HEAT 2Add
BLAST
Repeati241 – 27838HEAT 3Add
BLAST
Repeati280 – 31839HEAT 4Add
BLAST
Repeati354 – 37623HEAT 5Add
BLAST
Repeati377 – 41438HEAT 6Add
BLAST
Repeati599 – 63840HEAT 7Add
BLAST
Repeati696 – 73439HEAT 8Add
BLAST
Repeati738 – 77639HEAT 9Add
BLAST
Repeati784 – 82239HEAT 10Add
BLAST

Sequence similaritiesi

Contains 10 HEAT repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG29211.
GeneTreeiENSGT00390000005666.
HOGENOMiHOG000007194.
HOVERGENiHBG079488.
InParanoidiQ86Y56.
OMAiPEHFHMQ.
OrthoDBiEOG75TMB8.
PhylomeDBiQ86Y56.
TreeFamiTF326738.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000357. HEAT.
IPR021133. HEAT_type_2.
[Graphical view]
PfamiPF02985. HEAT. 2 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS50077. HEAT_REPEAT. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q86Y56) [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

        10         20         30         40         50
MAALGVAEAV AAPHPAEGAE TAEAVELSRA LSRLLPGLEA DSKPGRRRAL
60 70 80 90 100
EALRRALEEP GPAADPTAFQ GPWARLLLPR LLRCLSDPAE GCRALAVHLL
110 120 130 140 150
DLGLRRAARP RDALPRLLPA LAARLAGPVP ARRPPEACEE LRLALVQLLG
160 170 180 190 200
LAVDLCGAAL APHLDDALRA LRCSLLDPFA AVRRESCSCA AALAQATPDH
210 220 230 240 250
FHMQSESLIG PLMQTISHQH WKVRVAAIEA TGAVIHFGNG KSVDDVLSHF
260 270 280 290 300
AQRLFDDVPQ VRRAVASVVG GWLLCLRDRY SFFHKLIPLL LSSLNDEVPE
310 320 330 340 350
VRQLAASLWE DVGLQWQKEN EEDLKDKLDF APPTPPHYPP HERRPVLGCR
360 370 380 390 400
ELVFRNLSKI LPALCHDITD WVVGTRVKSA QLLPVLLLHA EDHATQHLEV
410 420 430 440 450
VLRTLFQACT DEEAAVVQSC TRSAELVGTF VSPEVFLKLI LSTLKKTPSA
460 470 480 490 500
SGLLVLASAM RGCPREALQP HLAAIATELA QAHICQASEN DLYLERLLLC
510 520 530 540 550
VQALVSVCHE DCGVASLQLL DVLLTIVALA GATGLRDKAQ ETMDSLAMVE
560 570 580 590 600
GVSSCQDLYR KHIGPLLERV TASHLDWTAH SPELLQFSVI VAQSGPALGE
610 620 630 640 650
ALPHVVPTLR ACLQPSQDPQ MRLKLFSILS TVLLRATDTI NSQGQFPSYL
660 670 680 690 700
ETVTKDILAP NLQWHAGRTA AAIRTAAVSC LWALTSSEVL SAEQIRDVQE
710 720 730 740 750
TLMPQVLTTL EEDSKMTRLI SCRIINTFLK TSGGMTDPEK LIRIYPELLK
760 770 780 790 800
RLDDVSNDVR MAAASTLVTW LQCVKGANAK SYYQSSVQYL YRELLVHLDD
810 820 830 840 850
PERAIQDAIL EVLKEGSGLF PDLLVRETEA VIHKHRSATY CEQLLQHVQA

VPATQ
Length:855
Mass (Da):93,521
Last modified:January 11, 2011 - v4
Checksum:iD1ED73FAEAC8F54C
GO
Isoform 2 (identifier: Q86Y56-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     811-855: EVLKEGSGLF...QHVQAVPATQ → DVPGSPSPSAMIGSFLRPPHPWRTVSQLNLFSS

Note: No experimental confirmation available.

Show »
Length:843
Mass (Da):92,044
Checksum:i2C9D9B186A452568
GO
Isoform 3 (identifier: Q86Y56-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-620: Missing.

Note: No experimental confirmation available.

Show »
Length:235
Mass (Da):26,361
Checksum:i4B8A87065D76E953
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti128 – 1281P → H in AAH47240. (PubMed:15489334)Curated
Sequence conflicti419 – 4213SCT → TSS in AAH10850. (PubMed:15489334)Curated
Sequence conflicti454 – 4541L → M in AAH47240. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti560 – 5601R → C.
Corresponds to variant rs73258248 [ dbSNP | Ensembl ].
VAR_060463
Natural varianti632 – 6321V → A.
Corresponds to variant rs4720951 [ dbSNP | Ensembl ].
VAR_056911
Natural varianti743 – 7431R → K.3 Publications
Corresponds to variant rs3922641 [ dbSNP | Ensembl ].
VAR_060464
Natural varianti795 – 7951L → P in CILD18. 1 Publication
VAR_068969

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 620620Missing in isoform 3. 1 PublicationVSP_016109Add
BLAST
Alternative sequencei811 – 85545EVLKE…VPATQ → DVPGSPSPSAMIGSFLRPPH PWRTVSQLNLFSS in isoform 2. 1 PublicationVSP_016110Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS34580.1. [Q86Y56-1]
RefSeqiNP_060272.3. NM_017802.3. [Q86Y56-1]
UniGeneiHs.535896.

Genome annotation databases

EnsembliENST00000297440; ENSP00000297440; ENSG00000164818. [Q86Y56-1]
GeneIDi54919.
KEGGihsa:54919.
UCSCiuc003sjb.2. human. [Q86Y56-3]
uc010krz.1. human. [Q86Y56-1]

Polymorphism databases

DMDMi317373567.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS34580.1. [Q86Y56-1 ]
RefSeqi NP_060272.3. NM_017802.3. [Q86Y56-1 ]
UniGenei Hs.535896.

3D structure databases

ProteinModelPortali Q86Y56.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120260. 33 interactions.
IntActi Q86Y56. 2 interactions.
MINTi MINT-1391398.
STRINGi 9606.ENSP00000297440.

PTM databases

PhosphoSitei Q86Y56.

Polymorphism databases

DMDMi 317373567.

Proteomic databases

MaxQBi Q86Y56.
PaxDbi Q86Y56.
PRIDEi Q86Y56.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000297440 ; ENSP00000297440 ; ENSG00000164818 . [Q86Y56-1 ]
GeneIDi 54919.
KEGGi hsa:54919.
UCSCi uc003sjb.2. human. [Q86Y56-3 ]
uc010krz.1. human. [Q86Y56-1 ]

Organism-specific databases

CTDi 54919.
GeneCardsi GC07P000766.
GeneReviewsi HEATR2.
H-InvDB HIX0006405.
HIX0200638.
HGNCi HGNC:26013. HEATR2.
HPAi HPA020243.
MIMi 614864. gene.
614874. phenotype.
neXtProti NX_Q86Y56.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA145008229.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG29211.
GeneTreei ENSGT00390000005666.
HOGENOMi HOG000007194.
HOVERGENi HBG079488.
InParanoidi Q86Y56.
OMAi PEHFHMQ.
OrthoDBi EOG75TMB8.
PhylomeDBi Q86Y56.
TreeFami TF326738.

Miscellaneous databases

ChiTaRSi HEATR2. human.
GenomeRNAii 54919.
NextBioi 57986.
PROi Q86Y56.
SOURCEi Search...

Gene expression databases

Bgeei Q86Y56.
CleanExi HS_HEATR2.
ExpressionAtlasi Q86Y56. baseline and differential.
Genevestigatori Q86Y56.

Family and domain databases

Gene3Di 1.25.10.10. 3 hits.
InterProi IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000357. HEAT.
IPR021133. HEAT_type_2.
[Graphical view ]
Pfami PF02985. HEAT. 2 hits.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 1 hit.
PROSITEi PS50077. HEAT_REPEAT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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 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.
    , 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. 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. 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. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: VARIANT CILD18 PRO-795, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiHEAT2_HUMAN
AccessioniPrimary (citable) accession number: Q86Y56
Secondary accession number(s): Q69YL1, Q96FI9, Q9NX75
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: January 11, 2011
Last modified: October 29, 2014
This is version 111 of the entry and version 4 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3