SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9HCM3

- K1549_HUMAN

UniProt

Q9HCM3 - K1549_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

UPF0606 protein KIAA1549

Gene
KIAA1549
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei1643 – 16442Breakpoint for translocation to form KIAA1549-BRAF fusion protein
Sitei1749 – 17502Breakpoint for translocation to form KIAA1549-BRAF fusion protein

Names & Taxonomyi

Protein namesi
Recommended name:
UPF0606 protein KIAA1549
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:22219. KIAA1549.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei998 – 101821Helical; Reviewed predictionAdd
BLAST
Transmembranei1299 – 131921Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving KIAA1549 is found in pilocytic astrocytoma. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation.1 Publication

Organism-specific databases

Orphaneti251612. Pilocytic astrocytoma.
PharmGKBiPA162393138.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19501950UPF0606 protein KIAA1549PRO_0000342405Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1395 – 13951Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9HCM3.
PaxDbiQ9HCM3.
PRIDEiQ9HCM3.

PTM databases

PhosphoSiteiQ9HCM3.

Expressioni

Gene expression databases

ArrayExpressiQ9HCM3.
BgeeiQ9HCM3.
CleanExiHS_KIAA1549.
GenevestigatoriQ9HCM3.

Organism-specific databases

HPAiHPA019560.

Interactioni

Protein-protein interaction databases

BioGridi121702. 9 interactions.
IntActiQ9HCM3. 13 interactions.
STRINGi9606.ENSP00000242365.

Structurei

3D structure databases

ProteinModelPortaliQ9HCM3.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi494 – 764271Ser-richAdd
BLAST

Sequence similaritiesi

Belongs to the UPF0606 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG70685.
HOVERGENiHBG108038.
InParanoidiQ9HCM3.
OMAiMWRRATV.
OrthoDBiEOG7X9G64.
PhylomeDBiQ9HCM3.
TreeFamiTF332690.

Family and domain databases

InterProiIPR024606. DUF3827.
[Graphical view]
PANTHERiPTHR21590. PTHR21590. 1 hit.
PfamiPF12877. DUF3827. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative promoter usage and alternative splicing. Align

Isoform 1 (identifier: Q9HCM3-1) [UniParc]FASTAAdd to Basket

Also known as: v2 long-form

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

MPGARRRRRG AAMEGKPRAG VALAPGPSGR RPSARCARRR RPGLLLPGLW     50
LLLLARPASC APDELSPEQH NLSLYSMELV LKKSTGHSAA QVALTETAPG 100
SQHSSPLHVT APPSATTFDT AFFNQGKQTK STADPSIFVA TYVSVTSKEV 150
AVNDDEMDNF LPDTHWTTPR MVSPIQYITV SPPGLPREAL EPMLTPSLPM 200
VSLQDEEVTS GWQNTTRQPA AYAESASHFH TFRSAFRTSE GIVPTPGRNL 250
VLYPTDAYSH LSSRTLPEIV ASLTEGVETT LFLSSRSLMP QPLGDGITIP 300
LPSLGEVSQP PEEVWATSAD RYTDVTTVLS QSLEETISPR TYPTVTASHA 350
ALAFSRTHSP LLSTPLAFAS SASPTDVSSN PFLPSDSSKT SELHSNSALP 400
GPVDNTHILS PVSSFRPYTW CAACTVPSPQ QVLATSLMEK DVGSGDGAET 450
LCMTVLEESS ISLMSSVVAD FSEFEEDPQV FNTLFPSRPI VPLSSRSMEI 500
SETSVGISAE VDMSSVTTTQ VPPAHGRLSV PASLDPTAGS LSVAETQVTP 550
SSVTTAFFSV ITSILLDSSF SVIANKNTPS LAVRDPSVFT PYSLVPSVES 600
SLFSDQERSS FSEHKPRGAL DFASSFFSTP PLELSGSISS PSEAPASLSL 650
MPSDLSPFTS QSFSPLVETF TLFDSSDLQS SQLSLPSSTN LEFSQLQPSS 700
ELPLNTIMLL PSRSEVSPWS SFPSDSLEFV EASTVSLTDS EAHFTSAFIE 750
TTSYLESSLI SHESAVTALV PPGSESFDIL TAGIQATSPL TTVHTTPILT 800
ESSLFSTLTP PDDQISALDG HVSVLASFSK AIPTGTVLIT DAYLPSGSSF 850
VSEATPFPLP TELTVVGPSL TPTEVPLNTS TEVSTTSTGA ATGGPLDSTL 900
MGDAASQSPP ESSAAPPLPS LRPVTAFTLE ATVDTPTLAT AKPPYVCDIT 950
VPDAYLITTV LARRAVQEYI ITAIKEVLRI HFNRAVELKV YELFTDFTFL 1000
VTSGPFVYTA ISVINVLINS KLVRDQTPLI LSVKPSFLVP ESRFQVQTVL 1050
QFVPPSVDTG FCNFTQRIEK GLMTALFEVR KHHQGTYNLT VQILNITISS 1100
SRVTPRRGPV NIIFAVKSTQ GFLNGSEVSE LLRNLSVVEF SFYLGYPVLQ 1150
IAEPFQYPQL NLSQLLKSSW VRTVLLGVME KQLQNEVFQA EMERKLAQLL 1200
SEVSTRRRMW RRATVAAGNS VVQVVNVSRL EGDDNPVQLI YFVEDQDGER 1250
LSAVKSSDLI NKMDLQRAAI ILGYRIQGVI AQPVDRVKRP SPESQSNNLW 1300
VIVGVVIPVL VVMVIVVILY WKLCRTDKLD FQPDTVANIQ QRQKLQIPSV 1350
KGFDFAKQHL GQHNKDDILI IHEPAPLPGP LKDHTTPSEN GDVPSPKSKI 1400
PSKNVRHRGR VSPSDADSTV SEESSERDAG DKTPGAVNDG RSHRAPQSGP 1450
PLPSSGNEQH SSASIFEHVD RISRPPEASR RVPSKIQLIA MQPIPAPPVQ 1500
RPSPADRVAE SNKINKEIQT ALRHKSEIEH HRNKIRLRAK RRGHYEFPVV 1550
DDLSSGDTKE RHRVYRRAQM QIDKILDPTA SVPSVFIEPR KSSRIKRSPK 1600
PRRKHQVNGC PADAEKDRLI TTDSDGTYRR PPGVHNSAYI GCPSDPDLPA 1650
DVQTPSSVEL GRYPALPFPA SQYIPPQPSI EEARQTMHSL LDDAFALVAP 1700
SSQPASTAGV GPGVPPGLPA NSTPSQEERR ATQWGSFYSP AQTANNPCSR 1750
YEDYGMTPPT GPLPRPGFGP GLLQSTELVP PDPQQPQASA EAPFAARGIY 1800
SEEMPSVARP RPVGGTTGSQ IQHLTQVGIA SRIGAQPVEI PPSRGSQYGG 1850
PGWPSYGEDE AGRREATHML GHQEYSSSPL FQVPRTSGRE PSAPSGNLPH 1900
RGLQGPGLGY PTSSTEDLQP GHSSASLIKA IREELLRLSQ KQSTVQNFHS 1950
Length:1,950
Mass (Da):210,755
Last modified:April 5, 2011 - v4
Checksum:i3F7FD3A94CE4EE93
GO
Isoform 2 (identifier: Q9HCM3-2) [UniParc]FASTAAdd to Basket

Also known as: v1 long-form

The sequence of this isoform differs from the canonical sequence as follows:
     1867-1882: Missing.

Show »
Length:1,934
Mass (Da):208,911
Checksum:i9BF63EB0F22D2BFB
GO
Isoform 3 (identifier: Q9HCM3-3) [UniParc]FASTAAdd to Basket

Also known as: v1 short-form

The sequence of this isoform differs from the canonical sequence as follows:
     1-1216: Missing.
     1217-1222: AGNSVV → MVSAIF
     1867-1882: Missing.

Note: Produced by alternative promoter usage.

Show »
Length:718
Mass (Da):78,291
Checksum:i3D303D67C703FA9D
GO
Isoform 4 (identifier: Q9HCM3-4) [UniParc]FASTAAdd to Basket

Also known as: v2 short-form

The sequence of this isoform differs from the canonical sequence as follows:
     1-1216: Missing.
     1217-1222: AGNSVV → MVSAIF

Note: Produced by alternative promoter usage.

Show »
Length:734
Mass (Da):80,135
Checksum:iFB158E873F601E38
GO

Sequence cautioni

The sequence AAH38232.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti448 – 4481A → P.
Corresponds to variant rs2718131 [ dbSNP | Ensembl ].
VAR_044187
Natural varianti652 – 6521P → L.1 Publication
Corresponds to variant rs2774960 [ dbSNP | Ensembl ].
VAR_057812
Natural varianti851 – 8511V → G.
Corresponds to variant rs2354336 [ dbSNP | Ensembl ].
VAR_044188

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 12161216Missing in isoform 3 and isoform 4. VSP_040885Add
BLAST
Alternative sequencei1217 – 12226AGNSVV → MVSAIF in isoform 3 and isoform 4. VSP_040886
Alternative sequencei1867 – 188216Missing in isoform 2 and isoform 3. VSP_034448Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti486 – 4861P → A in BAB13375. 1 Publication
Sequence conflicti617 – 6171R → G in BAB13375. 1 Publication
Sequence conflicti849 – 8491S → L in BAB13375. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AM989467 Genomic DNA. Translation: CAQ43105.1.
AM989467 Genomic DNA. Translation: CAQ43106.1.
AM989468 mRNA. Translation: CAQ43107.1.
AM989469 mRNA. Translation: CAQ43108.1.
AM989470 mRNA. Translation: CAQ43109.1.
AM989471 mRNA. Translation: CAQ43110.1.
AM989472 mRNA. Translation: CAQ43111.1. Different termination.
AM989473 mRNA. Translation: CAQ43112.1. Different termination.
AM989474 mRNA. Translation: CAQ43113.1. Different termination.
AM989475 mRNA. Translation: CAQ43114.1. Different termination.
AM989476 mRNA. Translation: CAQ43115.1. Different termination.
AM989477 mRNA. Translation: CAQ43116.1. Different termination.
AC018663 Genomic DNA. No translation available.
AC083868 Genomic DNA. No translation available.
AC093144 Genomic DNA. No translation available.
AB046769 mRNA. Translation: BAB13375.2.
BC038232 mRNA. Translation: AAH38232.1. Different initiation.
BC091523 mRNA. Translation: AAH91523.1.
AL136736 mRNA. Translation: CAB66670.2.
CCDSiCCDS47723.2. [Q9HCM3-2]
CCDS56513.1. [Q9HCM3-1]
RefSeqiNP_001158137.1. NM_001164665.1. [Q9HCM3-1]
NP_065961.2. NM_020910.2. [Q9HCM3-2]
XP_006716135.1. XM_006716072.1. [Q9HCM3-3]
UniGeneiHs.605380.

Genome annotation databases

EnsembliENST00000422774; ENSP00000416040; ENSG00000122778. [Q9HCM3-1]
ENST00000440172; ENSP00000406661; ENSG00000122778. [Q9HCM3-2]
GeneIDi57670.
KEGGihsa:57670.
UCSCiuc011kqi.2. human. [Q9HCM3-3]
uc011kqj.2. human. [Q9HCM3-2]
uc011kqk.2. human. [Q9HCM3-4]
uc011kql.2. human. [Q9HCM3-1]

Polymorphism databases

DMDMi327478603.

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AM989467 Genomic DNA. Translation: CAQ43105.1 .
AM989467 Genomic DNA. Translation: CAQ43106.1 .
AM989468 mRNA. Translation: CAQ43107.1 .
AM989469 mRNA. Translation: CAQ43108.1 .
AM989470 mRNA. Translation: CAQ43109.1 .
AM989471 mRNA. Translation: CAQ43110.1 .
AM989472 mRNA. Translation: CAQ43111.1 . Different termination.
AM989473 mRNA. Translation: CAQ43112.1 . Different termination.
AM989474 mRNA. Translation: CAQ43113.1 . Different termination.
AM989475 mRNA. Translation: CAQ43114.1 . Different termination.
AM989476 mRNA. Translation: CAQ43115.1 . Different termination.
AM989477 mRNA. Translation: CAQ43116.1 . Different termination.
AC018663 Genomic DNA. No translation available.
AC083868 Genomic DNA. No translation available.
AC093144 Genomic DNA. No translation available.
AB046769 mRNA. Translation: BAB13375.2 .
BC038232 mRNA. Translation: AAH38232.1 . Different initiation.
BC091523 mRNA. Translation: AAH91523.1 .
AL136736 mRNA. Translation: CAB66670.2 .
CCDSi CCDS47723.2. [Q9HCM3-2 ]
CCDS56513.1. [Q9HCM3-1 ]
RefSeqi NP_001158137.1. NM_001164665.1. [Q9HCM3-1 ]
NP_065961.2. NM_020910.2. [Q9HCM3-2 ]
XP_006716135.1. XM_006716072.1. [Q9HCM3-3 ]
UniGenei Hs.605380.

3D structure databases

ProteinModelPortali Q9HCM3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121702. 9 interactions.
IntActi Q9HCM3. 13 interactions.
STRINGi 9606.ENSP00000242365.

PTM databases

PhosphoSitei Q9HCM3.

Polymorphism databases

DMDMi 327478603.

Proteomic databases

MaxQBi Q9HCM3.
PaxDbi Q9HCM3.
PRIDEi Q9HCM3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000422774 ; ENSP00000416040 ; ENSG00000122778 . [Q9HCM3-1 ]
ENST00000440172 ; ENSP00000406661 ; ENSG00000122778 . [Q9HCM3-2 ]
GeneIDi 57670.
KEGGi hsa:57670.
UCSCi uc011kqi.2. human. [Q9HCM3-3 ]
uc011kqj.2. human. [Q9HCM3-2 ]
uc011kqk.2. human. [Q9HCM3-4 ]
uc011kql.2. human. [Q9HCM3-1 ]

Organism-specific databases

CTDi 57670.
GeneCardsi GC07M138516.
HGNCi HGNC:22219. KIAA1549.
HPAi HPA019560.
MIMi 613344. gene.
neXtProti NX_Q9HCM3.
Orphaneti 251612. Pilocytic astrocytoma.
PharmGKBi PA162393138.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG70685.
HOVERGENi HBG108038.
InParanoidi Q9HCM3.
OMAi MWRRATV.
OrthoDBi EOG7X9G64.
PhylomeDBi Q9HCM3.
TreeFami TF332690.

Miscellaneous databases

GenomeRNAii 57670.
NextBioi 2776.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9HCM3.
Bgeei Q9HCM3.
CleanExi HS_KIAA1549.
Genevestigatori Q9HCM3.

Family and domain databases

InterProi IPR024606. DUF3827.
[Graphical view ]
PANTHERi PTHR21590. PTHR21590. 1 hit.
Pfami PF12877. DUF3827. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas."
    Jones D.T.W., Kocialkowski S., Liu L., Pearson D.M., Backlund L.M., Ichimura K., Collins V.P.
    Cancer Res. 68:8673-8677(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 3 AND 4), DISEASE, CHROMOSOMAL REARRANGEMENT.
    Tissue: Brain.
  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. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
    DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 70-1950 (ISOFORM 2), VARIANT LEU-652.
    Tissue: Brain.
  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] OF 1128-1950 (ISOFORM 1).
    Tissue: Brain and Duodenum.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1811-1950 (ISOFORM 2).
    Tissue: Testis.
  6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1395, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiK1549_HUMAN
AccessioniPrimary (citable) accession number: Q9HCM3
Secondary accession number(s): B6HY55
, B6HY56, B6HY58, B6HY60, B6HY61, B6HY62, B6HY63, B6HY64, B6HY65, B6HY66, Q5BJD6, Q8IY15, Q9H0M3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: April 5, 2011
Last modified: July 9, 2014
This is version 81 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, 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
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

External Data

Dasty 3

Similar proteinsi