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Entry version 141 (29 Sep 2021)
Sequence version 3 (13 Sep 2005)
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Protein

Protein KIAA0100

Gene

KIAA0100

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

May be involved in membrane trafficking.

By similarity

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q14667

<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_and_taxonomy_section">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:
Protein KIAA0100
Alternative name(s):
Antigen MLAA-22
Breast cancer-overexpressed gene 1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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
Name:KIAA0100
Synonyms:BCOX1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28960, KIAA0100

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610664, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14667

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000007202

<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

<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

Secreted

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
9703

Open Targets

More...
OpenTargetsi
ENSG00000007202

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671635

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q14667, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KIAA0100

Domain mapping of disease mutations (DMDM)

More...
DMDMi
114149325

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 31Sequence analysisAdd BLAST31
<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_000024858732 – 2235Protein KIAA0100Add BLAST2204

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 residuei563PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi730N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1846PhosphoserineCombined sources1
Modified residuei2090PhosphoserineCombined sources1
Modified residuei2094PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q14667

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14667

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14667

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14667

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

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PaxDbi
Q14667

PeptideAtlas

More...
PeptideAtlasi
Q14667

PRoteomics IDEntifications database

More...
PRIDEi
Q14667

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
60096 [Q14667-1]
60097 [Q14667-2]
60098 [Q14667-3]
60099 [Q14667-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q14667, 1 site

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14667

MetOSite database of methionine sulfoxide sites

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MetOSitei
Q14667

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

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PhosphoSitePlusi
Q14667

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in pancreas, placenta and up-regulated in breast carcinoma epithelial cells, ductal in situ carcinoma (DCIS), invasive breast carcinoma (IBC) and metastatic breast carcinoma cells (MET).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000007202, Expressed in adrenal tissue and 242 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14667, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14667, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000007202, Low tissue specificity

<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
115055, 16 interactors

Protein interaction database and analysis system

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IntActi
Q14667, 6 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000436773

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q14667, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q14667

Database of comparative protein structure models

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ModBasei
Search...

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1495 – 1529DisorderedSequence analysisAdd BLAST35
Regioni2074 – 2099DisorderedSequence analysisAdd BLAST26

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1813 – 1885Sequence analysisAdd BLAST73

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1511 – 1527Polar residuesSequence analysisAdd BLAST17

<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 SABRE family.Curated

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1910, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00600000084481

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14667

Identification of Orthologs from Complete Genome Data

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OMAi
QSKRLAW

Database of Orthologous Groups

More...
OrthoDBi
26089at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14667

TreeFam database of animal gene trees

More...
TreeFami
TF314307

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019443, FMP27_C
IPR019441, FMP27_GFWDK_dom
IPR019439, FMP27_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10351, Apt1, 1 hit
PF10344, Fmp27, 2 hits
PF10347, Fmp27_GFWDK, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01214, Fmp27_GFWDK, 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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14667-1) [UniParc]FASTAAdd to basket

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
MPLFFSALLV LLLVALSALF LGRWLVVRLA TKWCQRKLQA ELKIGSFRFF
60 70 80 90 100
WIQNVSLKFQ QHQQTVEIDN LWISSKLLSH DLPHYVALCF GEVRIRTDLQ
110 120 130 140 150
KVSDLSAPFS QSAGVDQKEL SFSPSLLKIF CQLFSIHVDA INIMVLKVDT
160 170 180 190 200
SESLWHIQIS RSRFLLDSDG KRLICEVSLC KINSKVLKSG QLEDTCLVEL
210 220 230 240 250
SLALDLCLKV GISSRHLTAI TVDVWTLHAE LHEGLFQSQL LCQGPSLASK
260 270 280 290 300
PVPCSEVTEN LVEPTLPGLF LLQQLPDQVK VKMENTSVVL SMNSQKRHLT
310 320 330 340 350
WTLKLLQFLY HRDEDQLPLR SFTANSDMAQ MSTELLLEDG LLLSQSRQRI
360 370 380 390 400
VCLNSLKASV QVTTIDLSAS LVLNTCIIHY RHQEFSHWLH LLALETQGSS
410 420 430 440 450
SPVLKQRKKR TFPQILAPII FSTSISNVNI SIQLGDTPPF ALGFNSISLD
460 470 480 490 500
YQHLRPQSIH QRGVLTVDHL CWRVGSDSHI QRAPHPPNMH VWGEALVLDS
510 520 530 540 550
FTLQGSYNQP LGLSSTQSDT LFLDCTIRGL QVEASDTCAQ CLSRILSLMG
560 570 580 590 600
PQSGKSAVSR HSSFGESVSL LWKVDLKVED MNLFTLSALV GASEVRLDTL
610 620 630 640 650
TILGSAETST VGIQGLVLAL VKSVTEKMQP CCKAPDIPTP VLSLSMLSIT
660 670 680 690 700
YHSSIRSLEV QCGAGLTLLW SPPDHMYLYQ HVLATLQCRD LLRATVFPET
710 720 730 740 750
VPSLALETSG TTSELEGRAP EPLPPKRLLN LTLEVSTAKL TAFVAEDKFI
760 770 780 790 800
TLAAESVSLS RHGGSLQAYC PELAAGFDGN SIFNFKEVEV QLLPELEEMI
810 820 830 840 850
LHRNPFPALQ TLRNRVWLLS FGSVSVEFPY QYDFSRTLDE AVGVQKWLKG
860 870 880 890 900
LHQGTRAWAS PSPVPLPPDL LLKVEHFSWV FLDDVFEVKL HDNYELMKDE
910 920 930 940 950
SKESAKRLQL LDAKVAALRK QHGELLPARK IEELYASLER KNIEIYIQRS
960 970 980 990 1000
RRLYGNTPMR RALLTWSLAG LELVALADAS FHGPEHVVEQ VQELDPGSPF
1010 1020 1030 1040 1050
PPEGLDLVIQ WCRMLKCNVK SFLVRIRDYP RYLFEIRDWR LMGRLVGTEQ
1060 1070 1080 1090 1100
SGQPCSRRRQ ILHLGLPWGN VAVERNMPPL KFYHDFHSEI FQYTVVWGPC
1110 1120 1130 1140 1150
WDPAWTLIGQ CVDLLTKPSA DPSPPLPWWD KSRLLFHGDW HMDIEQANLH
1160 1170 1180 1190 1200
QLATEDPYNT TENMHWEWSH LSFHWKPGQF VFKGDLDINV RTASKYDDCC
1210 1220 1230 1240 1250
FLHLPDLCMT LDLQWLCHGN PHDHHSVTLR APEFLPEVPL GQLHDSYRAF
1260 1270 1280 1290 1300
RSENLNLSIK MDLTRHSGTI SQPRILLYSS TLRWMQNFWA TWTSVTRPIC
1310 1320 1330 1340 1350
RGKLFNNLKP SKKKLGQHYK QLSYTALFPQ LQVHYWASFA QQRGIQIECS
1360 1370 1380 1390 1400
QGHVFTRGTQ RLIPQAGTVM RRLISDWSVT QMVSDLSQVT VHLMASPTEE
1410 1420 1430 1440 1450
NADHCLDPLV TKTHLLSLSS LTYQRHSNRT AEEELSARDG DPTFHTHQLH
1460 1470 1480 1490 1500
LVDLRISWTT TNRDIAFGLY DGYKKAAVLK RNLSTEALKG LKIDPQMPAK
1510 1520 1530 1540 1550
KPKRGVPTSA SAPPRVNTPS FSGQPDKGSS GGAYMLQKLI EETDRFVVFT
1560 1570 1580 1590 1600
EEESGMSDQL CGIAACQTDD IYNRNCLIEL VNCQMVLRGA ETEGCVIVSA
1610 1620 1630 1640 1650
AKAQLLQCQH HPAWYGDTLK QKTSWTCLLD GMQYFATTES SPTEQDGRQL
1660 1670 1680 1690 1700
WLEVKNIEEH RQRSLDSVQE LMESGQAVGG MVTTTTDWNQ PAEAQQAQQV
1710 1720 1730 1740 1750
QRIISRCNCR MYYISYSHDI DPELATQIKP PEVLENQEKE DLLKKQEGAV
1760 1770 1780 1790 1800
DTFTLIHHEL EISTNPAQYA MILDIVNNLL LHVEPKRKEH SEKKQRVRFQ
1810 1820 1830 1840 1850
LEISSNPEEQ RSSILHLQEA VRQHVAQIRQ LEKQMYSIMK SLQDDSKNEN
1860 1870 1880 1890 1900
LLDLNQKLQL QLNQEKANLQ LESEELNILI RCFKDFQLQR ANKMELRKQQ
1910 1920 1930 1940 1950
EDVSVVRRTE FYFAQARWRL TEEDGQLGIA ELELQRFLYS KVNKSDDTAE
1960 1970 1980 1990 2000
HLLELGWFTM NNLLPNAVYK VVLRPQSSCQ SGRQLALRLF SKVRPPVGGI
2010 2020 2030 2040 2050
SVKEHFEVNV VPLTIQLTHQ FFHRMMGFFF PGRSVEDDEV GDEEDKSKLV
2060 2070 2080 2090 2100
TTGIPVVKPR QLIATDDAVP LGPGKGVAQG LTRSSGVRRS FRKSPEHPVD
2110 2120 2130 2140 2150
DIDKMKERAA MNNSFIYIKI PQVPLCVSYK GEKNSVDWGD LNLVLPCLEY
2160 2170 2180 2190 2200
HNNTWTWLDF AMAVKRDSRK ALVAQVIKEK LRLKSATGSE VRGKLETKSD
2210 2220 2230
LNMQQQEEEE KARLLIGLSV GDKNPGKKSI FGRRK
Length:2,235
Mass (Da):253,700
Last modified:September 13, 2005 - v3
<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:i15BCEB09FAEFD7E3
GO
Isoform 2 (identifier: Q14667-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     797-826: Missing.

Show »
Length:2,205
Mass (Da):250,207
Checksum:i8EC9DB1916734996
GO
Isoform 3 (identifier: Q14667-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1846: Missing.
     1847-1848: KN → MI

Show »
Length:389
Mass (Da):44,525
Checksum:iC9E64A41BB212E1A
GO
Isoform 4 (identifier: Q14667-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-143: Missing.
     339-365: DGLLLSQSRQRIVCLNSLKASVQVTTI → GSWVGVLVLSENGRTRYSLCSCPIWSP
     366-2235: Missing.

Show »
Length:222
Mass (Da):24,920
Checksum:i199D7626213647BD
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q08E86Q08E86_HUMAN
KIAA0100 protein
KIAA0100
2,092Annotation score:

Annotation score:1 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>
K7EQ86K7EQ86_HUMAN
KIAA0100, isoform CRA_a
KIAA0100 hCG_31795
2,092Annotation score:

Annotation score:1 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>
K7EMT1K7EMT1_HUMAN
Protein KIAA0100
KIAA0100
21Annotation score:

Annotation score:1 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>
K7EQR3K7EQR3_HUMAN
Protein KIAA0100
KIAA0100
287Annotation score:

Annotation score:1 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>
J3QLM5J3QLM5_HUMAN
Protein KIAA0100
KIAA0100
86Annotation score:

Annotation score:1 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>

<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 AAQ93061 differs from that shown. Sequencing errors.Curated
The sequence AAQ93061 differs from that shown. Reason: Frameshift.Curated
The sequence BAC85274 differs from that shown. Contaminating sequence.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 conflicti77L → P in CAI45940 (PubMed:17974005).Curated1
Sequence conflicti512G → V in CAI45940 (PubMed:17974005).Curated1
Sequence conflicti601T → A in CAI45940 (PubMed:17974005).Curated1
Sequence conflicti1264T → A in CAI45940 (PubMed:17974005).Curated1
Sequence conflicti1546F → L in CAI45940 (PubMed:17974005).Curated1
Sequence conflicti1573N → H in AAQ93061 (PubMed:15755502).Curated1
Sequence conflicti1662Q → E in AAQ93061 (PubMed:15755502).Curated1
Sequence conflicti1734L → H in AAQ93061 (PubMed:15755502).Curated1
Sequence conflicti1764Missing in CAI45940 (PubMed:17974005).Curated1
Sequence conflicti1830Q → H in AAQ93061 (PubMed:15755502).Curated1
Sequence conflicti1838I → T in CAI45940 (PubMed:17974005).Curated1
Sequence conflicti1968V → I in AAQ93061 (PubMed:15755502).Curated1
Sequence conflicti2018 – 2020THQ → SHR in AAQ93061 (PubMed:15755502).Curated3
Sequence conflicti2034S → N in AAQ93061 (PubMed:15755502).Curated1
Sequence conflicti2073P → S in AAQ93061 (PubMed:15755502).Curated1
Sequence conflicti2094S → L in AAQ93061 (PubMed:15755502).Curated1
Sequence conflicti2185S → P in AAQ93061 (PubMed:15755502).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_027352986H → Q. Corresponds to variant dbSNP:rs16964472EnsemblClinVar.1
Natural variantiVAR_0273531516V → G. Corresponds to variant dbSNP:rs12602520Ensembl.1
Natural variantiVAR_0527062060R → G. Corresponds to variant dbSNP:rs16964462Ensembl.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_0203171 – 1846Missing in isoform 3. 1 PublicationAdd BLAST1846
Alternative sequenceiVSP_0203181 – 143Missing in isoform 4. 2 PublicationsAdd BLAST143
Alternative sequenceiVSP_020319339 – 365DGLLL…QVTTI → GSWVGVLVLSENGRTRYSLC SCPIWSP in isoform 4. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_020320366 – 2235Missing in isoform 4. 2 PublicationsAdd BLAST1870
Alternative sequenceiVSP_020321797 – 826Missing in isoform 2. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_0203221847 – 1848KN → MI in isoform 3. 1 Publication2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY943906 mRNA Translation: AAY19515.1
D43947 mRNA Translation: BAA07891.3
CR933634 mRNA Translation: CAI45940.1
AC005726 Genomic DNA No translation available.
BC008591 mRNA Translation: AAH08591.2
BC048096 mRNA Translation: AAH48096.1
BC103726 mRNA Translation: AAI03727.1
AK130007 mRNA Translation: BAC85274.1 Sequence problems.
AY288965 mRNA Translation: AAQ93061.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS32595.1 [Q14667-1]

NCBI Reference Sequences

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RefSeqi
NP_055495.2, NM_014680.3 [Q14667-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000528896; ENSP00000436773; ENSG00000007202 [Q14667-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9703

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9703

UCSC genome browser

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UCSCi
uc002hbu.4, human [Q14667-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY943906 mRNA Translation: AAY19515.1
D43947 mRNA Translation: BAA07891.3
CR933634 mRNA Translation: CAI45940.1
AC005726 Genomic DNA No translation available.
BC008591 mRNA Translation: AAH08591.2
BC048096 mRNA Translation: AAH48096.1
BC103726 mRNA Translation: AAI03727.1
AK130007 mRNA Translation: BAC85274.1 Sequence problems.
AY288965 mRNA Translation: AAQ93061.1 Sequence problems.
CCDSiCCDS32595.1 [Q14667-1]
RefSeqiNP_055495.2, NM_014680.3 [Q14667-1]

3D structure databases

SMRiQ14667
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi115055, 16 interactors
IntActiQ14667, 6 interactors
STRINGi9606.ENSP00000436773

PTM databases

GlyGeniQ14667, 1 site
iPTMnetiQ14667
MetOSiteiQ14667
PhosphoSitePlusiQ14667

Genetic variation databases

BioMutaiKIAA0100
DMDMi114149325

Proteomic databases

EPDiQ14667
jPOSTiQ14667
MassIVEiQ14667
MaxQBiQ14667
PaxDbiQ14667
PeptideAtlasiQ14667
PRIDEiQ14667
ProteomicsDBi60096 [Q14667-1]
60097 [Q14667-2]
60098 [Q14667-3]
60099 [Q14667-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
51190, 59 antibodies

The DNASU plasmid repository

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DNASUi
9703

Genome annotation databases

EnsembliENST00000528896; ENSP00000436773; ENSG00000007202 [Q14667-1]
GeneIDi9703
KEGGihsa:9703
UCSCiuc002hbu.4, human [Q14667-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9703
DisGeNETi9703

GeneCards: human genes, protein and diseases

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GeneCardsi
KIAA0100
HGNCiHGNC:28960, KIAA0100
HPAiENSG00000007202, Low tissue specificity
MIMi610664, gene
neXtProtiNX_Q14667
OpenTargetsiENSG00000007202
PharmGKBiPA142671635
VEuPathDBiHostDB:ENSG00000007202

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1910, Eukaryota
GeneTreeiENSGT00600000084481
InParanoidiQ14667
OMAiQSKRLAW
OrthoDBi26089at2759
PhylomeDBiQ14667
TreeFamiTF314307

Enzyme and pathway databases

PathwayCommonsiQ14667

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9703, 104 hits in 1024 CRISPR screens

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

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ChiTaRSi
KIAA0100, human

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

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GenomeRNAii
9703
PharosiQ14667, Tbio

Protein Ontology

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PROi
PR:Q14667
RNActiQ14667, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000007202, Expressed in adrenal tissue and 242 other tissues
ExpressionAtlasiQ14667, baseline and differential
GenevisibleiQ14667, HS

Family and domain databases

InterProiView protein in InterPro
IPR019443, FMP27_C
IPR019441, FMP27_GFWDK_dom
IPR019439, FMP27_N
PfamiView protein in Pfam
PF10351, Apt1, 1 hit
PF10344, Fmp27, 2 hits
PF10347, Fmp27_GFWDK, 1 hit
SMARTiView protein in SMART
SM01214, Fmp27_GFWDK, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiK0100_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: Q14667
Secondary accession number(s): A6NCX3
, Q3SYN5, Q49A07, Q5H9T4, Q6WG74, Q6ZP51, Q96HH8
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: September 13, 2005
Last modified: September 29, 2021
This is version 141 of the entry and version 3 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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