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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

DisGeNETi63897.
OpenTargetsiENSG00000068097.
PharmGKBiPA162390774.

Polymorphism and mutation databases

BioMutaiHEATR6.
DMDMi74724525.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003371731 – 1181HEAT repeat-containing protein 6Add BLAST1181

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei336PhosphoserineCombined sources1
Modified residuei337PhosphoserineCombined sources1
Modified residuei399PhosphoserineCombined sources1
Modified residuei402PhosphoserineCombined sources1
Modified residuei618PhosphothreonineBy similarity1
Modified residuei643PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6AI08.
MaxQBiQ6AI08.
PaxDbiQ6AI08.
PeptideAtlasiQ6AI08.
PRIDEiQ6AI08.

PTM databases

iPTMnetiQ6AI08.
PhosphoSitePlusiQ6AI08.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000068097.
CleanExiHS_HEATR6.
ExpressionAtlasiQ6AI08. baseline and differential.
GenevisibleiQ6AI08. HS.

Organism-specific databases

HPAiHPA030789.
HPA062157.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ6AI08.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati159 – 198HEAT 1Add BLAST40
Repeati452 – 490HEAT 2Add BLAST39
Repeati515 – 552HEAT 3Add BLAST38
Repeati558 – 595HEAT 4Add BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi315 – 325Poly-LysAdd BLAST11
Compositional biasi330 – 335Poly-Glu6
Compositional biasi383 – 390Poly-Ser8

Sequence similaritiesi

Contains 4 HEAT repeats.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4535. Eukaryota.
ENOG410XNWJ. LUCA.
GeneTreeiENSGT00390000016675.
HOVERGENiHBG057052.
InParanoidiQ6AI08.
OMAiQQCSSWT.
OrthoDBiEOG091G02OE.
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 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB15229 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB15348 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti44D → G in CAE45906 (PubMed:17974005).Curated1
Sequence conflicti307S → C in BAB15229 (PubMed:14702039).Curated1
Sequence conflicti336S → F in BAB15229 (PubMed:14702039).Curated1
Sequence conflicti343A → V in BAB15229 (PubMed:14702039).Curated1
Sequence conflicti362 – 363SS → FF in BAB15229 (PubMed:14702039).Curated2
Sequence conflicti383S → Y in BAB15229 (PubMed:14702039).Curated1
Sequence conflicti385S → C in BAB15229 (PubMed:14702039).Curated1
Sequence conflicti474R → C in CAE45895 (PubMed:17974005).Curated1
Sequence conflicti630A → T in BAB15229 (PubMed:14702039).Curated1
Sequence conflicti730L → P in AAL83912 (PubMed:11431322).Curated1
Sequence conflicti753A → T in AAL83912 (PubMed:11431322).Curated1
Sequence conflicti762F → L in AAL83912 (PubMed:11431322).Curated1
Sequence conflicti778R → G in CAE45895 (PubMed:17974005).Curated1
Sequence conflicti992G → R in AAL83912 (PubMed:11431322).Curated1
Sequence conflicti1004L → P in CAE45906 (PubMed:17974005).Curated1
Sequence conflicti1042I → F in AAL83912 (PubMed:11431322).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04367071A → V.Corresponds to variant rs3744376dbSNPEnsembl.1
Natural variantiVAR_0436711006S → L.Corresponds to variant rs16943991dbSNPEnsembl.1

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ6AI08.
PhosphoSitePlusiQ6AI08.

Polymorphism and mutation databases

BioMutaiHEATR6.
DMDMi74724525.

Proteomic databases

EPDiQ6AI08.
MaxQBiQ6AI08.
PaxDbiQ6AI08.
PeptideAtlasiQ6AI08.
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.
DisGeNETi63897.
GeneCardsiHEATR6.
H-InvDBHIX0014052.
HGNCiHGNC:24076. HEATR6.
HPAiHPA030789.
HPA062157.
neXtProtiNX_Q6AI08.
OpenTargetsiENSG00000068097.
PharmGKBiPA162390774.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4535. Eukaryota.
ENOG410XNWJ. LUCA.
GeneTreeiENSGT00390000016675.
HOVERGENiHBG057052.
InParanoidiQ6AI08.
OMAiQQCSSWT.
OrthoDBiEOG091G02OE.
PhylomeDBiQ6AI08.
TreeFamiTF324244.

Miscellaneous databases

GenomeRNAii63897.
PROiQ6AI08.

Gene expression databases

BgeeiENSG00000068097.
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...

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: November 2, 2016
This is version 114 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.