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Protein

Protein KIAA0100

Gene

KIAA0100

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

Functioni

May be involved in membrane trafficking.By similarity

Enzyme and pathway databases

BioCyciZFISH:ENSG00000007202-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein KIAA0100
Alternative name(s):
Antigen MLAA-22
Breast cancer-overexpressed gene 1 protein
Gene namesi
Name:KIAA0100
Synonyms:BCOX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:28960. KIAA0100.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi9703.
OpenTargetsiENSG00000007202.
PharmGKBiPA142671635.

Polymorphism and mutation databases

BioMutaiKIAA0100.
DMDMi114149325.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000024858732 – 2235Protein KIAA0100Add BLAST2204

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei563PhosphoserineBy similarity1
Glycosylationi730N-linked (GlcNAc...)Sequence analysis1
Modified residuei1846PhosphoserineCombined sources1
Modified residuei2090PhosphoserineCombined sources1
Modified residuei2094PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ14667.
MaxQBiQ14667.
PaxDbiQ14667.
PeptideAtlasiQ14667.
PRIDEiQ14667.

PTM databases

iPTMnetiQ14667.
PhosphoSitePlusiQ14667.

Expressioni

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

BgeeiENSG00000007202.
CleanExiHS_KIAA0100.
ExpressionAtlasiQ14667. baseline and differential.
GenevisibleiQ14667. HS.

Organism-specific databases

HPAiHPA042781.

Interactioni

Protein-protein interaction databases

BioGridi115055. 6 interactors.
IntActiQ14667. 1 interactor.
STRINGi9606.ENSP00000005905.

Structurei

3D structure databases

ProteinModelPortaliQ14667.
SMRiQ14667.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1813 – 1885Sequence analysisAdd BLAST73

Sequence similaritiesi

Belongs to the SABRE family.Curated

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

eggNOGiKOG1910. Eukaryota.
ENOG410XSYR. LUCA.
GeneTreeiENSGT00600000084481.
HOVERGENiHBG081816.
InParanoidiQ14667.
OMAiASWTTTN.
OrthoDBiEOG091G00AH.
PhylomeDBiQ14667.
TreeFamiTF314307.

Family and domain databases

InterProiIPR019443. FMP27_C.
IPR019441. FMP27_GFWDK_dom.
IPR019439. FMP27_N.
[Graphical view]
PfamiPF10351. Apt1. 1 hit.
PF10344. Fmp27. 2 hits.
PF10347. Fmp27_GFWDK. 1 hit.
[Graphical view]
SMARTiSM01214. Fmp27_GFWDK. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

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

        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
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.

Note: No experimental confirmation available.
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

Sequence cautioni

The sequence AAQ93061 differs from that shown. Sequencing errors.Curated
The sequence AAQ93061 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence BAC85274 differs from that shown. Contaminating sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_027352986H → Q.Corresponds to variant rs16964472dbSNPEnsembl.1
Natural variantiVAR_0273531516V → G.Corresponds to variant rs12602520dbSNPEnsembl.1
Natural variantiVAR_0527062060R → G.Corresponds to variant rs16964462dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.151761.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.151761.

3D structure databases

ProteinModelPortaliQ14667.
SMRiQ14667.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115055. 6 interactors.
IntActiQ14667. 1 interactor.
STRINGi9606.ENSP00000005905.

PTM databases

iPTMnetiQ14667.
PhosphoSitePlusiQ14667.

Polymorphism and mutation databases

BioMutaiKIAA0100.
DMDMi114149325.

Proteomic databases

EPDiQ14667.
MaxQBiQ14667.
PaxDbiQ14667.
PeptideAtlasiQ14667.
PRIDEiQ14667.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9703.
DisGeNETi9703.
GeneCardsiKIAA0100.
HGNCiHGNC:28960. KIAA0100.
HPAiHPA042781.
MIMi610664. gene.
neXtProtiNX_Q14667.
OpenTargetsiENSG00000007202.
PharmGKBiPA142671635.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1910. Eukaryota.
ENOG410XSYR. LUCA.
GeneTreeiENSGT00600000084481.
HOVERGENiHBG081816.
InParanoidiQ14667.
OMAiASWTTTN.
OrthoDBiEOG091G00AH.
PhylomeDBiQ14667.
TreeFamiTF314307.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000007202-MONOMER.

Miscellaneous databases

ChiTaRSiKIAA0100. human.
GenomeRNAii9703.
PROiQ14667.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000007202.
CleanExiHS_KIAA0100.
ExpressionAtlasiQ14667. baseline and differential.
GenevisibleiQ14667. HS.

Family and domain databases

InterProiIPR019443. FMP27_C.
IPR019441. FMP27_GFWDK_dom.
IPR019439. FMP27_N.
[Graphical view]
PfamiPF10351. Apt1. 1 hit.
PF10344. Fmp27. 2 hits.
PF10347. Fmp27_GFWDK. 1 hit.
[Graphical view]
SMARTiSM01214. Fmp27_GFWDK. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiK0100_HUMAN
AccessioniPrimary (citable) accession number: Q14667
Secondary accession number(s): A6NCX3
, Q3SYN5, Q49A07, Q5H9T4, Q6WG74, Q6ZP51, Q96HH8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: September 13, 2005
Last modified: November 2, 2016
This is version 113 of the entry and version 3 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.