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Q9HCM3 (K1549_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
UPF0606 protein KIAA1549
Gene names
Name:KIAA1549
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1950 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Involvement in disease

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. Ref.1

Sequence similarities

Belongs to the UPF0606 family.

Sequence caution

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

Ontologies

Alternative products

This entry describes 4 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HCM3-1)

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.
Isoform 2 (identifier: Q9HCM3-2)

Also known as: v1 long-form;

The sequence of this isoform differs from the canonical sequence as follows:
     1867-1882: Missing.
Isoform 3 (identifier: Q9HCM3-3)

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.
Isoform 4 (identifier: Q9HCM3-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 19501950UPF0606 protein KIAA1549
PRO_0000342405

Regions

Transmembrane998 – 101821Helical; Potential
Transmembrane1299 – 131921Helical; Potential
Compositional bias494 – 764271Ser-rich

Sites

Site1643 – 16442Breakpoint for translocation to form KIAA1549-BRAF fusion protein
Site1749 – 17502Breakpoint for translocation to form KIAA1549-BRAF fusion protein

Amino acid modifications

Modified residue13951Phosphoserine Ref.6

Natural variations

Alternative sequence1 – 12161216Missing in isoform 3 and isoform 4.
VSP_040885
Alternative sequence1217 – 12226AGNSVV → MVSAIF in isoform 3 and isoform 4.
VSP_040886
Alternative sequence1867 – 188216Missing in isoform 2 and isoform 3.
VSP_034448
Natural variant4481A → P.
Corresponds to variant rs2718131 [ dbSNP | Ensembl ].
VAR_044187
Natural variant6521P → L. Ref.3
Corresponds to variant rs2774960 [ dbSNP | Ensembl ].
VAR_057812
Natural variant8511V → G.
Corresponds to variant rs2354336 [ dbSNP | Ensembl ].
VAR_044188

Experimental info

Sequence conflict4861P → A in BAB13375. Ref.3
Sequence conflict6171R → G in BAB13375. Ref.3
Sequence conflict8491S → L in BAB13375. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (v2 long-form) [UniParc].

Last modified April 5, 2011. Version 4.
Checksum: 3F7FD3A94CE4EE93

FASTA1,950210,755
        10         20         30         40         50         60 
MPGARRRRRG AAMEGKPRAG VALAPGPSGR RPSARCARRR RPGLLLPGLW LLLLARPASC 

        70         80         90        100        110        120 
APDELSPEQH NLSLYSMELV LKKSTGHSAA QVALTETAPG SQHSSPLHVT APPSATTFDT 

       130        140        150        160        170        180 
AFFNQGKQTK STADPSIFVA TYVSVTSKEV AVNDDEMDNF LPDTHWTTPR MVSPIQYITV 

       190        200        210        220        230        240 
SPPGLPREAL EPMLTPSLPM VSLQDEEVTS GWQNTTRQPA AYAESASHFH TFRSAFRTSE 

       250        260        270        280        290        300 
GIVPTPGRNL VLYPTDAYSH LSSRTLPEIV ASLTEGVETT LFLSSRSLMP QPLGDGITIP 

       310        320        330        340        350        360 
LPSLGEVSQP PEEVWATSAD RYTDVTTVLS QSLEETISPR TYPTVTASHA ALAFSRTHSP 

       370        380        390        400        410        420 
LLSTPLAFAS SASPTDVSSN PFLPSDSSKT SELHSNSALP GPVDNTHILS PVSSFRPYTW 

       430        440        450        460        470        480 
CAACTVPSPQ QVLATSLMEK DVGSGDGAET LCMTVLEESS ISLMSSVVAD FSEFEEDPQV 

       490        500        510        520        530        540 
FNTLFPSRPI VPLSSRSMEI SETSVGISAE VDMSSVTTTQ VPPAHGRLSV PASLDPTAGS 

       550        560        570        580        590        600 
LSVAETQVTP SSVTTAFFSV ITSILLDSSF SVIANKNTPS LAVRDPSVFT PYSLVPSVES 

       610        620        630        640        650        660 
SLFSDQERSS FSEHKPRGAL DFASSFFSTP PLELSGSISS PSEAPASLSL MPSDLSPFTS 

       670        680        690        700        710        720 
QSFSPLVETF TLFDSSDLQS SQLSLPSSTN LEFSQLQPSS ELPLNTIMLL PSRSEVSPWS 

       730        740        750        760        770        780 
SFPSDSLEFV EASTVSLTDS EAHFTSAFIE TTSYLESSLI SHESAVTALV PPGSESFDIL 

       790        800        810        820        830        840 
TAGIQATSPL TTVHTTPILT ESSLFSTLTP PDDQISALDG HVSVLASFSK AIPTGTVLIT 

       850        860        870        880        890        900 
DAYLPSGSSF VSEATPFPLP TELTVVGPSL TPTEVPLNTS TEVSTTSTGA ATGGPLDSTL 

       910        920        930        940        950        960 
MGDAASQSPP ESSAAPPLPS LRPVTAFTLE ATVDTPTLAT AKPPYVCDIT VPDAYLITTV 

       970        980        990       1000       1010       1020 
LARRAVQEYI ITAIKEVLRI HFNRAVELKV YELFTDFTFL VTSGPFVYTA ISVINVLINS 

      1030       1040       1050       1060       1070       1080 
KLVRDQTPLI LSVKPSFLVP ESRFQVQTVL QFVPPSVDTG FCNFTQRIEK GLMTALFEVR 

      1090       1100       1110       1120       1130       1140 
KHHQGTYNLT VQILNITISS SRVTPRRGPV NIIFAVKSTQ GFLNGSEVSE LLRNLSVVEF 

      1150       1160       1170       1180       1190       1200 
SFYLGYPVLQ IAEPFQYPQL NLSQLLKSSW VRTVLLGVME KQLQNEVFQA EMERKLAQLL 

      1210       1220       1230       1240       1250       1260 
SEVSTRRRMW RRATVAAGNS VVQVVNVSRL EGDDNPVQLI YFVEDQDGER LSAVKSSDLI 

      1270       1280       1290       1300       1310       1320 
NKMDLQRAAI ILGYRIQGVI AQPVDRVKRP SPESQSNNLW VIVGVVIPVL VVMVIVVILY 

      1330       1340       1350       1360       1370       1380 
WKLCRTDKLD FQPDTVANIQ QRQKLQIPSV KGFDFAKQHL GQHNKDDILI IHEPAPLPGP 

      1390       1400       1410       1420       1430       1440 
LKDHTTPSEN GDVPSPKSKI PSKNVRHRGR VSPSDADSTV SEESSERDAG DKTPGAVNDG 

      1450       1460       1470       1480       1490       1500 
RSHRAPQSGP PLPSSGNEQH SSASIFEHVD RISRPPEASR RVPSKIQLIA MQPIPAPPVQ 

      1510       1520       1530       1540       1550       1560 
RPSPADRVAE SNKINKEIQT ALRHKSEIEH HRNKIRLRAK RRGHYEFPVV DDLSSGDTKE 

      1570       1580       1590       1600       1610       1620 
RHRVYRRAQM QIDKILDPTA SVPSVFIEPR KSSRIKRSPK PRRKHQVNGC PADAEKDRLI 

      1630       1640       1650       1660       1670       1680 
TTDSDGTYRR PPGVHNSAYI GCPSDPDLPA DVQTPSSVEL GRYPALPFPA SQYIPPQPSI 

      1690       1700       1710       1720       1730       1740 
EEARQTMHSL LDDAFALVAP SSQPASTAGV GPGVPPGLPA NSTPSQEERR ATQWGSFYSP 

      1750       1760       1770       1780       1790       1800 
AQTANNPCSR YEDYGMTPPT GPLPRPGFGP GLLQSTELVP PDPQQPQASA EAPFAARGIY 

      1810       1820       1830       1840       1850       1860 
SEEMPSVARP RPVGGTTGSQ IQHLTQVGIA SRIGAQPVEI PPSRGSQYGG PGWPSYGEDE 

      1870       1880       1890       1900       1910       1920 
AGRREATHML GHQEYSSSPL FQVPRTSGRE PSAPSGNLPH RGLQGPGLGY PTSSTEDLQP 

      1930       1940       1950 
GHSSASLIKA IREELLRLSQ KQSTVQNFHS 

« Hide

Isoform 2 (v1 long-form) [UniParc].

Checksum: 9BF63EB0F22D2BFB
Show »

FASTA1,934208,911
Isoform 3 (v1 short-form) [UniParc].

Checksum: 3D303D67C703FA9D
Show »

FASTA71878,291
Isoform 4 (v2 short-form) [UniParc].

Checksum: FB158E873F601E38
Show »

FASTA73480,135

References

« Hide 'large scale' references
[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. 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]"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]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS47723.2. [Q9HCM3-2]
CCDS56513.1. [Q9HCM3-1]
RefSeqNP_001158137.1. NM_001164665.1. [Q9HCM3-1]
NP_065961.2. NM_020910.2. [Q9HCM3-2]
XP_006716135.1. XM_006716072.1. [Q9HCM3-3]
UniGeneHs.605380.

3D structure databases

ProteinModelPortalQ9HCM3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121702. 9 interactions.
IntActQ9HCM3. 13 interactions.
STRING9606.ENSP00000242365.

PTM databases

PhosphoSiteQ9HCM3.

Polymorphism databases

DMDM327478603.

Proteomic databases

MaxQBQ9HCM3.
PaxDbQ9HCM3.
PRIDEQ9HCM3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000422774; ENSP00000416040; ENSG00000122778. [Q9HCM3-1]
ENST00000440172; ENSP00000406661; ENSG00000122778. [Q9HCM3-2]
GeneID57670.
KEGGhsa:57670.
UCSCuc011kqi.2. human. [Q9HCM3-3]
uc011kqj.2. human. [Q9HCM3-2]
uc011kqk.2. human. [Q9HCM3-4]
uc011kql.2. human. [Q9HCM3-1]

Organism-specific databases

CTD57670.
GeneCardsGC07M138516.
HGNCHGNC:22219. KIAA1549.
HPAHPA019560.
MIM613344. gene.
neXtProtNX_Q9HCM3.
Orphanet251612. Pilocytic astrocytoma.
PharmGKBPA162393138.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70685.
HOVERGENHBG108038.
InParanoidQ9HCM3.
OMAMWRRATV.
OrthoDBEOG7X9G64.
PhylomeDBQ9HCM3.
TreeFamTF332690.

Gene expression databases

ArrayExpressQ9HCM3.
BgeeQ9HCM3.
CleanExHS_KIAA1549.
GenevestigatorQ9HCM3.

Family and domain databases

InterProIPR024606. DUF3827.
[Graphical view]
PANTHERPTHR21590. PTHR21590. 1 hit.
PfamPF12877. DUF3827. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57670.
NextBio2776.
SOURCESearch...

Entry information

Entry nameK1549_HUMAN
AccessionPrimary (citable) accession number: Q9HCM3
Secondary accession number(s): B6HY55 expand/collapse secondary AC list , B6HY56, B6HY58, B6HY60, B6HY61, B6HY62, B6HY63, B6HY64, B6HY65, B6HY66, Q5BJD6, Q8IY15, Q9H0M3
Entry history
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 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

Uncharacterized protein families (UPF)

List of uncharacterized protein family (UPF) entries

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