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Entry version 123 (22 Apr 2020)
Sequence version 4 (05 Apr 2011)
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Protein

UPF0606 protein KIAA1549

Gene

KIAA1549

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6802952 Signaling by BRAF and RAF fusions

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
UPF0606 protein KIAA1549
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:22219 KIAA1549

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613344 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HCM3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei998 – 1018HelicalSequence analysisAdd BLAST21
Transmembranei1299 – 1319HelicalSequence analysisAdd BLAST21

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei1643 – 1644Breakpoint for translocation to form KIAA1549-BRAF fusion protein2
Sitei1749 – 1750Breakpoint for translocation to form KIAA1549-BRAF fusion protein2

Organism-specific databases

DisGeNET

More...
DisGeNETi
57670

MalaCards human disease database

More...
MalaCardsi
KIAA1549

Open Targets

More...
OpenTargetsi
ENSG00000122778

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
251615 Pilomyxoid astrocytoma
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162393138

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HCM3 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KIAA1549

Domain mapping of disease mutations (DMDM)

More...
DMDMi
327478603

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003424051 – 1950UPF0606 protein KIAA1549Add BLAST1950

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1388PhosphoserineBy similarity1
Modified residuei1395PhosphoserineCombined sources1
Modified residuei1554PhosphoserineBy similarity1
Modified residuei1555PhosphoserineBy similarity1
Modified residuei1622PhosphothreonineBy similarity1
Modified residuei1624PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by POMGNT1.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9HCM3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9HCM3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9HCM3

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9HCM3

PeptideAtlas

More...
PeptideAtlasi
Q9HCM3

PRoteomics IDEntifications database

More...
PRIDEi
Q9HCM3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81759 [Q9HCM3-1]
81760 [Q9HCM3-2]
81761 [Q9HCM3-3]
81762 [Q9HCM3-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HCM3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9HCM3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000122778 Expressed in neocortex and 159 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HCM3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000122778 Tissue enhanced (ductus deferens, seminal vesicle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121702, 28 interactors

Protein interaction database and analysis system

More...
IntActi
Q9HCM3, 20 interactors

Molecular INTeraction database

More...
MINTi
Q9HCM3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000416040

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9HCM3 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi494 – 764Ser-richAdd BLAST271

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the UPF0606 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFU4 Eukaryota
ENOG410XX42 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063472

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_002218_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HCM3

Identification of Orthologs from Complete Genome Data

More...
OMAi
MWRRATI

Database of Orthologous Groups

More...
OrthoDBi
33154at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HCM3

TreeFam database of animal gene trees

More...
TreeFami
TF332690

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR024606 DUF3827

The PANTHER Classification System

More...
PANTHERi
PTHR21590 PTHR21590, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12877 DUF3827, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9HCM3-1) [UniParc]FASTAAdd to basket
Also known as: v2 long-form

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MPGARRRRRG AAMEGKPRAG VALAPGPSGR RPSARCARRR RPGLLLPGLW
60 70 80 90 100
LLLLARPASC APDELSPEQH NLSLYSMELV LKKSTGHSAA QVALTETAPG
110 120 130 140 150
SQHSSPLHVT APPSATTFDT AFFNQGKQTK STADPSIFVA TYVSVTSKEV
160 170 180 190 200
AVNDDEMDNF LPDTHWTTPR MVSPIQYITV SPPGLPREAL EPMLTPSLPM
210 220 230 240 250
VSLQDEEVTS GWQNTTRQPA AYAESASHFH TFRSAFRTSE GIVPTPGRNL
260 270 280 290 300
VLYPTDAYSH LSSRTLPEIV ASLTEGVETT LFLSSRSLMP QPLGDGITIP
310 320 330 340 350
LPSLGEVSQP PEEVWATSAD RYTDVTTVLS QSLEETISPR TYPTVTASHA
360 370 380 390 400
ALAFSRTHSP LLSTPLAFAS SASPTDVSSN PFLPSDSSKT SELHSNSALP
410 420 430 440 450
GPVDNTHILS PVSSFRPYTW CAACTVPSPQ QVLATSLMEK DVGSGDGAET
460 470 480 490 500
LCMTVLEESS ISLMSSVVAD FSEFEEDPQV FNTLFPSRPI VPLSSRSMEI
510 520 530 540 550
SETSVGISAE VDMSSVTTTQ VPPAHGRLSV PASLDPTAGS LSVAETQVTP
560 570 580 590 600
SSVTTAFFSV ITSILLDSSF SVIANKNTPS LAVRDPSVFT PYSLVPSVES
610 620 630 640 650
SLFSDQERSS FSEHKPRGAL DFASSFFSTP PLELSGSISS PSEAPASLSL
660 670 680 690 700
MPSDLSPFTS QSFSPLVETF TLFDSSDLQS SQLSLPSSTN LEFSQLQPSS
710 720 730 740 750
ELPLNTIMLL PSRSEVSPWS SFPSDSLEFV EASTVSLTDS EAHFTSAFIE
760 770 780 790 800
TTSYLESSLI SHESAVTALV PPGSESFDIL TAGIQATSPL TTVHTTPILT
810 820 830 840 850
ESSLFSTLTP PDDQISALDG HVSVLASFSK AIPTGTVLIT DAYLPSGSSF
860 870 880 890 900
VSEATPFPLP TELTVVGPSL TPTEVPLNTS TEVSTTSTGA ATGGPLDSTL
910 920 930 940 950
MGDAASQSPP ESSAAPPLPS LRPVTAFTLE ATVDTPTLAT AKPPYVCDIT
960 970 980 990 1000
VPDAYLITTV LARRAVQEYI ITAIKEVLRI HFNRAVELKV YELFTDFTFL
1010 1020 1030 1040 1050
VTSGPFVYTA ISVINVLINS KLVRDQTPLI LSVKPSFLVP ESRFQVQTVL
1060 1070 1080 1090 1100
QFVPPSVDTG FCNFTQRIEK GLMTALFEVR KHHQGTYNLT VQILNITISS
1110 1120 1130 1140 1150
SRVTPRRGPV NIIFAVKSTQ GFLNGSEVSE LLRNLSVVEF SFYLGYPVLQ
1160 1170 1180 1190 1200
IAEPFQYPQL NLSQLLKSSW VRTVLLGVME KQLQNEVFQA EMERKLAQLL
1210 1220 1230 1240 1250
SEVSTRRRMW RRATVAAGNS VVQVVNVSRL EGDDNPVQLI YFVEDQDGER
1260 1270 1280 1290 1300
LSAVKSSDLI NKMDLQRAAI ILGYRIQGVI AQPVDRVKRP SPESQSNNLW
1310 1320 1330 1340 1350
VIVGVVIPVL VVMVIVVILY WKLCRTDKLD FQPDTVANIQ QRQKLQIPSV
1360 1370 1380 1390 1400
KGFDFAKQHL GQHNKDDILI IHEPAPLPGP LKDHTTPSEN GDVPSPKSKI
1410 1420 1430 1440 1450
PSKNVRHRGR VSPSDADSTV SEESSERDAG DKTPGAVNDG RSHRAPQSGP
1460 1470 1480 1490 1500
PLPSSGNEQH SSASIFEHVD RISRPPEASR RVPSKIQLIA MQPIPAPPVQ
1510 1520 1530 1540 1550
RPSPADRVAE SNKINKEIQT ALRHKSEIEH HRNKIRLRAK RRGHYEFPVV
1560 1570 1580 1590 1600
DDLSSGDTKE RHRVYRRAQM QIDKILDPTA SVPSVFIEPR KSSRIKRSPK
1610 1620 1630 1640 1650
PRRKHQVNGC PADAEKDRLI TTDSDGTYRR PPGVHNSAYI GCPSDPDLPA
1660 1670 1680 1690 1700
DVQTPSSVEL GRYPALPFPA SQYIPPQPSI EEARQTMHSL LDDAFALVAP
1710 1720 1730 1740 1750
SSQPASTAGV GPGVPPGLPA NSTPSQEERR ATQWGSFYSP AQTANNPCSR
1760 1770 1780 1790 1800
YEDYGMTPPT GPLPRPGFGP GLLQSTELVP PDPQQPQASA EAPFAARGIY
1810 1820 1830 1840 1850
SEEMPSVARP RPVGGTTGSQ IQHLTQVGIA SRIGAQPVEI PPSRGSQYGG
1860 1870 1880 1890 1900
PGWPSYGEDE AGRREATHML GHQEYSSSPL FQVPRTSGRE PSAPSGNLPH
1910 1920 1930 1940 1950
RGLQGPGLGY PTSSTEDLQP GHSSASLIKA IREELLRLSQ KQSTVQNFHS
Length:1,950
Mass (Da):210,755
Last modified:April 5, 2011 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.Curated
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.Curated
Show »
Length:734
Mass (Da):80,135
Checksum:iFB158E873F601E38
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH38232 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti486P → A in BAB13375 (PubMed:10997877).Curated1
Sequence conflicti617R → G in BAB13375 (PubMed:10997877).Curated1
Sequence conflicti849S → L in BAB13375 (PubMed:10997877).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_044187448A → P. Corresponds to variant dbSNP:rs2718131Ensembl.1
Natural variantiVAR_057812652P → L1 PublicationCorresponds to variant dbSNP:rs2774960Ensembl.1
Natural variantiVAR_044188851V → G. Corresponds to variant dbSNP:rs2354336Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0408851 – 1216Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST1216
Alternative sequenceiVSP_0408861217 – 1222AGNSVV → MVSAIF in isoform 3 and isoform 4. 1 Publication6
Alternative sequenceiVSP_0344481867 – 1882Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST16

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47723.2 [Q9HCM3-2]
CCDS56513.1 [Q9HCM3-1]

NCBI Reference Sequences

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RefSeqi
NP_001158137.1, NM_001164665.1 [Q9HCM3-1]
NP_065961.2, NM_020910.2 [Q9HCM3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000422774; ENSP00000416040; ENSG00000122778 [Q9HCM3-1]
ENST00000440172; ENSP00000406661; ENSG00000122778 [Q9HCM3-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57670

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57670

UCSC genome browser

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UCSCi
uc011kqj.3 human [Q9HCM3-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi121702, 28 interactors
IntActiQ9HCM3, 20 interactors
MINTiQ9HCM3
STRINGi9606.ENSP00000416040

PTM databases

iPTMnetiQ9HCM3
PhosphoSitePlusiQ9HCM3

Polymorphism and mutation databases

BioMutaiKIAA1549
DMDMi327478603

Proteomic databases

jPOSTiQ9HCM3
MassIVEiQ9HCM3
MaxQBiQ9HCM3
PaxDbiQ9HCM3
PeptideAtlasiQ9HCM3
PRIDEiQ9HCM3
ProteomicsDBi81759 [Q9HCM3-1]
81760 [Q9HCM3-2]
81761 [Q9HCM3-3]
81762 [Q9HCM3-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
9863 24 antibodies

Genome annotation databases

EnsembliENST00000422774; ENSP00000416040; ENSG00000122778 [Q9HCM3-1]
ENST00000440172; ENSP00000406661; ENSG00000122778 [Q9HCM3-2]
GeneIDi57670
KEGGihsa:57670
UCSCiuc011kqj.3 human [Q9HCM3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57670
DisGeNETi57670

GeneCards: human genes, protein and diseases

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GeneCardsi
KIAA1549
HGNCiHGNC:22219 KIAA1549
HPAiENSG00000122778 Tissue enhanced (ductus deferens, seminal vesicle)
MalaCardsiKIAA1549
MIMi613344 gene
neXtProtiNX_Q9HCM3
OpenTargetsiENSG00000122778
Orphaneti251615 Pilomyxoid astrocytoma
791 Retinitis pigmentosa
PharmGKBiPA162393138

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFU4 Eukaryota
ENOG410XX42 LUCA
GeneTreeiENSGT00530000063472
HOGENOMiCLU_002218_0_0_1
InParanoidiQ9HCM3
OMAiMWRRATI
OrthoDBi33154at2759
PhylomeDBiQ9HCM3
TreeFamiTF332690

Enzyme and pathway databases

ReactomeiR-HSA-6802952 Signaling by BRAF and RAF fusions

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KIAA1549 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
57670
PharosiQ9HCM3 Tbio

Protein Ontology

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PROi
PR:Q9HCM3
RNActiQ9HCM3 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000122778 Expressed in neocortex and 159 other tissues
GenevisibleiQ9HCM3 HS

Family and domain databases

InterProiView protein in InterPro
IPR024606 DUF3827
PANTHERiPTHR21590 PTHR21590, 1 hit
PfamiView protein in Pfam
PF12877 DUF3827, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiK1549_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9HCM3
Secondary accession number(s): B6HY55
, B6HY56, B6HY58, B6HY60, B6HY61, B6HY62, B6HY63, B6HY64, B6HY65, B6HY66, Q5BJD6, Q8IY15, Q9H0M3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: April 5, 2011
Last modified: April 22, 2020
This is version 123 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
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