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Protein

HEAT repeat-containing protein 6

Gene

HEATR6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Amplification-dependent oncogene.

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
HEAT repeat-containing protein 6
Alternative name(s):
Amplified in breast cancer protein 1
Gene namesi
Name:HEATR6
Synonyms:ABC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:24076. HEATR6.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162390774.

Polymorphism and mutation databases

BioMutaiHEATR6.
DMDMi74724525.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11811181HEAT repeat-containing protein 6PRO_0000337173Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei618 – 6181PhosphothreonineBy similarity
Modified residuei643 – 6431PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6AI08.
MaxQBiQ6AI08.
PaxDbiQ6AI08.
PRIDEiQ6AI08.

PTM databases

iPTMnetiQ6AI08.
PhosphoSiteiQ6AI08.

Expressioni

Tissue specificityi

Amplified in breast cancer cell lines MCF-7 and BT-474.1 Publication

Gene expression databases

BgeeiQ6AI08.
CleanExiHS_HEATR6.
ExpressionAtlasiQ6AI08. baseline and differential.
GenevisibleiQ6AI08. HS.

Organism-specific databases

HPAiHPA030789.
HPA062157.

Interactioni

Protein-protein interaction databases

BioGridi121976. 20 interactions.
MINTiMINT-1154147.
STRINGi9606.ENSP00000184956.

Structurei

3D structure databases

ProteinModelPortaliQ6AI08.
SMRiQ6AI08. Positions 784-842, 856-884.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati159 – 19840HEAT 1Add
BLAST
Repeati452 – 49039HEAT 2Add
BLAST
Repeati515 – 55238HEAT 3Add
BLAST
Repeati558 – 59538HEAT 4Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi315 – 32511Poly-LysAdd
BLAST
Compositional biasi330 – 3356Poly-Glu
Compositional biasi383 – 3908Poly-Ser

Sequence similaritiesi

Contains 4 HEAT repeats.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4535. Eukaryota.
ENOG410XNWJ. LUCA.
GeneTreeiENSGT00390000016675.
HOVERGENiHBG057052.
InParanoidiQ6AI08.
OMAiQQCSSWT.
OrthoDBiEOG771269.
PhylomeDBiQ6AI08.
TreeFamiTF324244.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR025283. DUF4042.
[Graphical view]
PfamiPF13251. DUF4042. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 5 hits.

Sequencei

Sequence statusi: Complete.

Q6AI08-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAVQVVGSW PSVQPREAPR EAIPERGNGF RLLSARLCAL RPDDSSSART
60 70 80 90 100
EIHLLFDQLI SENYSEGSGV APEDVSALLV QACRLVPLNQ NHLVSKVSQL
110 120 130 140 150
IHHLLNRLQV IVDEQHLDFL LAYTISAIHQ CSSWTHREIL QALAALVYCN
160 170 180 190 200
GSKCQKYLPE LLGNTGLLMK LSDLAQSDPE VRRAAVHCMA NLCLSVPGQP
210 220 230 240 250
YLEEPYQNVC FQAFLTILQS PKSSDMDDIT FCMLLQNALK GIQSLLNGGR
260 270 280 290 300
MKLTQTDELG ALLAVLKKFM FHGLPGLNIE MPTVLYPTPL PQYDGRTPIK
310 320 330 340 350
PQQSESSASR PTLNKKKKSK VKPKKIQQGE EEEKESSGEI EAAPVTGTGR
360 370 380 390 400
VNLHEGNTWC PSSLGVQSLP LDGSGAAEKD GVSSSFSSSS WKRVSSSESD
410 420 430 440 450
FSDAEGGMQS KMRSYQAKVR QGALVCFLST IKSIEKKVLY GYWSAFIPDT
460 470 480 490 500
PELGSPQSVS LMTLTLKDPS PKTRACALQV LSAILEGSKQ FLSVAEDTSD
510 520 530 540 550
HRRAFTPFSV MIACSIRELH RCLLLALVAE SSSQTVTQII KCLANLVSNA
560 570 580 590 600
PYDRLKLSLL TKVWNQIKPY IRHKDVNVRV SSLTLLGAIV STHAPLPEVQ
610 620 630 640 650
LLLQQPCSSG LGNSNSATPH LSPPDWWKKA PAGPSLEETS VSSPKGSSEP
660 670 680 690 700
CWLIRLCISI VVLPKEDSCS GSDAGSAAGS TYEPSPMRLE ALQVLTLLAR
710 720 730 740 750
GYFSMTQAYL MELGEVICKC MGEADPSIQL HGAKLLEELG TGLIQQYKPD
760 770 780 790 800
STAAPDQRAP VFLVVMFWTM MLNGPLPRAL QNSEHPTLQA SACDALSSIL
810 820 830 840 850
PEAFSNLPND RQMLCITVLL GLNDSKNRLV KAATSRALGV YVLFPCLRQD
860 870 880 890 900
VIFVADAANA ILMSLEDKSL NVRAKAAWSL GNLTDTLIVN METPDPSFQE
910 920 930 940 950
EFSGLLLLKM LRSAIEASKD KDKVKSNAVR ALGNLLHFLQ PSHIEKPTFA
960 970 980 990 1000
EIIEESIQAL ISTVLTEAAM KVRWNACYAM GNVFKNPALP LGTAPWTSQA
1010 1020 1030 1040 1050
YNALTSVVTS CKNFKVRIRS AAALSVPGKR EQYGSVDQYA RIWNALVTAL
1060 1070 1080 1090 1100
QKSEDTIDFL EFKYCVSLRT QICQALIHLL SLASASDLPC MKETLELSGN
1110 1120 1130 1140 1150
MVQSYILQFL KSGAEGDDTG APHSPQERDQ MVRMALKHMG SIQAPTGDTA
1160 1170 1180
RRAIMGFLEE ILAVCFDSSG SQGALPGLTN Q
Length:1,181
Mass (Da):128,781
Last modified:September 13, 2004 - v1
Checksum:i61DA3E2A0CDA0BED
GO

Sequence cautioni

The sequence AAL83912.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB15229.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB15348.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti44 – 441D → G in CAE45906 (PubMed:17974005).Curated
Sequence conflicti307 – 3071S → C in BAB15229 (PubMed:14702039).Curated
Sequence conflicti336 – 3361S → F in BAB15229 (PubMed:14702039).Curated
Sequence conflicti343 – 3431A → V in BAB15229 (PubMed:14702039).Curated
Sequence conflicti362 – 3632SS → FF in BAB15229 (PubMed:14702039).Curated
Sequence conflicti383 – 3831S → Y in BAB15229 (PubMed:14702039).Curated
Sequence conflicti385 – 3851S → C in BAB15229 (PubMed:14702039).Curated
Sequence conflicti474 – 4741R → C in CAE45895 (PubMed:17974005).Curated
Sequence conflicti630 – 6301A → T in BAB15229 (PubMed:14702039).Curated
Sequence conflicti730 – 7301L → P in AAL83912 (PubMed:11431322).Curated
Sequence conflicti753 – 7531A → T in AAL83912 (PubMed:11431322).Curated
Sequence conflicti762 – 7621F → L in AAL83912 (PubMed:11431322).Curated
Sequence conflicti778 – 7781R → G in CAE45895 (PubMed:17974005).Curated
Sequence conflicti992 – 9921G → R in AAL83912 (PubMed:11431322).Curated
Sequence conflicti1004 – 10041L → P in CAE45906 (PubMed:17974005).Curated
Sequence conflicti1042 – 10421I → F in AAL83912 (PubMed:11431322).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711A → V.
Corresponds to variant rs3744376 [ dbSNP | Ensembl ].
VAR_043670
Natural varianti1006 – 10061S → L.
Corresponds to variant rs16943991 [ dbSNP | Ensembl ].
VAR_043671

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025740 mRNA. Translation: BAB15229.1. Different initiation.
AK026070 mRNA. Translation: BAB15348.1. Different initiation.
AK127708 mRNA. Translation: BAG54555.1.
BX640819 mRNA. Translation: CAE45895.1.
BX640831 mRNA. Translation: CAE45906.1.
CR627418 mRNA. Translation: CAH10506.1.
CH471109 Genomic DNA. Translation: EAW94369.1.
BC119813 mRNA. Translation: AAI19814.1.
AF349752 mRNA. Translation: AAL83912.1. Different initiation.
CCDSiCCDS11623.1.
RefSeqiNP_071353.4. NM_022070.4.
UniGeneiHs.221899.
Hs.591183.

Genome annotation databases

EnsembliENST00000184956; ENSP00000184956; ENSG00000068097.
GeneIDi63897.
KEGGihsa:63897.
UCSCiuc002iyk.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025740 mRNA. Translation: BAB15229.1. Different initiation.
AK026070 mRNA. Translation: BAB15348.1. Different initiation.
AK127708 mRNA. Translation: BAG54555.1.
BX640819 mRNA. Translation: CAE45895.1.
BX640831 mRNA. Translation: CAE45906.1.
CR627418 mRNA. Translation: CAH10506.1.
CH471109 Genomic DNA. Translation: EAW94369.1.
BC119813 mRNA. Translation: AAI19814.1.
AF349752 mRNA. Translation: AAL83912.1. Different initiation.
CCDSiCCDS11623.1.
RefSeqiNP_071353.4. NM_022070.4.
UniGeneiHs.221899.
Hs.591183.

3D structure databases

ProteinModelPortaliQ6AI08.
SMRiQ6AI08. Positions 784-842, 856-884.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121976. 20 interactions.
MINTiMINT-1154147.
STRINGi9606.ENSP00000184956.

PTM databases

iPTMnetiQ6AI08.
PhosphoSiteiQ6AI08.

Polymorphism and mutation databases

BioMutaiHEATR6.
DMDMi74724525.

Proteomic databases

EPDiQ6AI08.
MaxQBiQ6AI08.
PaxDbiQ6AI08.
PRIDEiQ6AI08.

Protocols and materials databases

DNASUi63897.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000184956; ENSP00000184956; ENSG00000068097.
GeneIDi63897.
KEGGihsa:63897.
UCSCiuc002iyk.2. human.

Organism-specific databases

CTDi63897.
GeneCardsiHEATR6.
H-InvDBHIX0014052.
HGNCiHGNC:24076. HEATR6.
HPAiHPA030789.
HPA062157.
neXtProtiNX_Q6AI08.
PharmGKBiPA162390774.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4535. Eukaryota.
ENOG410XNWJ. LUCA.
GeneTreeiENSGT00390000016675.
HOVERGENiHBG057052.
InParanoidiQ6AI08.
OMAiQQCSSWT.
OrthoDBiEOG771269.
PhylomeDBiQ6AI08.
TreeFamiTF324244.

Miscellaneous databases

GenomeRNAii63897.
PROiQ6AI08.

Gene expression databases

BgeeiQ6AI08.
CleanExiHS_HEATR6.
ExpressionAtlasiQ6AI08. baseline and differential.
GenevisibleiQ6AI08. HS.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR025283. DUF4042.
[Graphical view]
PfamiPF13251. DUF4042. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 5 hits.
ProtoNetiSearch...

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].
    Tissue: Hepatoma and Kidney.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon endothelium, Rectum tumor and Uterine endothelium.
  3. 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].
  5. "Structural analysis of the 17q22-23 amplicon identifies several independent targets of amplification in breast cancer cell lines and tumors."
    Wu G.-J., Sinclair C., Hinson S., Ingle J.N., Roche P.C., Couch F.J.
    Cancer Res. 61:4951-4955(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 36-1181, TISSUE SPECIFICITY.
  6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-643, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiHEAT6_HUMAN
AccessioniPrimary (citable) accession number: Q6AI08
Secondary accession number(s): B3KXP3
, Q6MZX1, Q6MZY2, Q8TDM9, Q9H6B3, Q9H6M7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: September 13, 2004
Last modified: June 8, 2016
This is version 110 of the entry and version 1 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

Miscellaneous

17q23 region is one of the most commonly amplified regions in breast cancer and therefore may harbor genes important for breast cancer development and progression.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.