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Protein

Uncharacterized protein KIAA1109

Gene

KIAA1109

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

Functioni

GO - Biological processi

  • regulation of cell growth Source: BHF-UCL
  • regulation of epithelial cell differentiation Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein KIAA1109
Alternative name(s):
Fragile site-associated protein
Gene namesi
Name:KIAA1109
Synonyms:FSA, KIAA1371
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:26953. KIAA1109.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei26 – 4621HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: BHF-UCL
  • nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671621.

Polymorphism and mutation databases

BioMutaiKIAA1109.
DMDMi317373370.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 50055005Uncharacterized protein KIAA1109PRO_0000317555Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1301 – 13011PhosphoserineCombined sources
Modified residuei1305 – 13051PhosphoserineCombined sources
Modified residuei1323 – 13231PhosphoserineCombined sources
Modified residuei1325 – 13251PhosphothreonineCombined sources
Modified residuei1355 – 13551PhosphoserineCombined sources
Modified residuei1406 – 14061PhosphoserineCombined sources
Modified residuei1805 – 18051PhosphoserineBy similarity
Modified residuei1808 – 18081PhosphoserineBy similarity
Modified residuei2601 – 26011PhosphoserineBy similarity
Modified residuei2603 – 26031PhosphoserineCombined sources
Modified residuei2755 – 27551PhosphoserineCombined sources
Modified residuei3562 – 35621PhosphoserineCombined sources
Modified residuei3653 – 36531PhosphoserineBy similarity
Modified residuei4124 – 41241PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ2LD37.
MaxQBiQ2LD37.
PaxDbiQ2LD37.
PeptideAtlasiQ2LD37.
PRIDEiQ2LD37.

PTM databases

iPTMnetiQ2LD37.
PhosphoSiteiQ2LD37.

Expressioni

Tissue specificityi

Highly expressed in testis and ovary. Weakly or not expressed in other tissues.1 Publication

Gene expression databases

BgeeiENSG00000138688.
ExpressionAtlasiQ2LD37. baseline and differential.
GenevisibleiQ2LD37. HS.

Organism-specific databases

HPAiHPA038076.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CTNNB1P352222EBI-2683809,EBI-491549

Protein-protein interaction databases

BioGridi123919. 1 interaction.
IntActiQ2LD37. 3 interactions.
STRINGi9606.ENSP00000264501.

Structurei

3D structure databases

ProteinModelPortaliQ2LD37.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi772 – 7798Poly-Ser
Compositional biasi1154 – 11574Poly-Ser
Compositional biasi1226 – 12338Poly-Ser
Compositional biasi1237 – 12404Poly-Ser
Compositional biasi1417 – 14215Poly-Lys
Compositional biasi1544 – 15474Poly-Ser
Compositional biasi1991 – 19944Poly-Pro
Compositional biasi3838 – 38414Poly-Lys
Compositional biasi4110 – 415849Ser-richAdd
BLAST

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3596. Eukaryota.
ENOG410XT7P. LUCA.
GeneTreeiENSGT00640000091487.
HOVERGENiHBG108027.
InParanoidiQ2LD37.
OMAiVPTTCNT.
OrthoDBiEOG091G004E.
PhylomeDBiQ2LD37.
TreeFamiTF105915.

Family and domain databases

InterProiIPR018863. Fragile_site-assoc_C.
IPR033616. KIAA1109.
[Graphical view]
PANTHERiPTHR31640. PTHR31640. 2 hits.
PfamiPF10479. FSA_C. 2 hits.
[Graphical view]
SMARTiSM01220. FSA_C. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q2LD37-1) [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
MDQRKNESIV PSITQLEDFL TEHNSNVVWL LVATILSCGW IIYLTYYNSR
60 70 80 90 100
NVGLILTLVL NRLYKHGYIH IGSFSFSVLS GKVMVREIYY ITEDMSIRIQ
110 120 130 140 150
DGFIIFRWWK MYNPKQKQHD PKAETRLYIT VNDFEFHVYN RSDLYGRLQE
160 170 180 190 200
LFGLEPTIIP PKKDDDKTRE IGRTRTQSKI ERVKVKTESQ DPTSSWRSLI
210 220 230 240 250
PVIKVNVSTG RLAFGNHYQP QTLCINFDDA FLTYTTKPPS SHLDQFMHIV
260 270 280 290 300
KGKLENVRVM LVPSPRYVGL QNDEPPRLMG EGFVVMQSND VDIYYYMDEP
310 320 330 340 350
GLVPEETEEN IEGEMSSEDC KLQDLPPCWG LDIVCGKGTD FNYGPWADRQ
360 370 380 390 400
RDCLWKFFFP PDYQVLKVSE IAQPGRPRQI LAFELRMNII ADATIDLLFT
410 420 430 440 450
KNRETNAVHV NVGAGSYLEI NIPMTVEENG YTPAIKGQLL HVDATTSMQY
460 470 480 490 500
RTLLEAEMLA FHINASYPRI WNMPQTWQCE LEVYKATYHF IFAQKNFFTD
510 520 530 540 550
LIQDWSSDSP PDIFSFVPYT WNFKIMFHQF EMIWAANQHN WIDCSTKQQE
560 570 580 590 600
NVYLAACGET LNIDFSLPFT DFVPATCNTK FSLRGEDVDL HLFLPDCHPS
610 620 630 640 650
KYSLFMLVKN CHPNKMIHDT GIPAECQSGQ KTVKPKWRNV TQEKSGWVEC
660 670 680 690 700
WTVPSVMLTI DYTWHPIYPQ KADEQLKQSL SEMEETMLSV LRPSQKTSDR
710 720 730 740 750
VVSSPSTSSR PPIDPSELPP DKLHVEMELS PDSQITLYGP LLNAFLCIKE
760 770 780 790 800
NYFGEDDMYM DFEEVISSPV LSLSTSSSSG WTAVGMENDK KENEGSAKSI
810 820 830 840 850
HPLALRPWDI TVLVNLYKVH GRLPVHGTTD GPECPTAFLE RLCFEMKKGF
860 870 880 890 900
RETMLQLILS PLNVFVSDNY QQRPPVDEVL REGHINLSGL QLRAHAMFSA
910 920 930 940 950
EGLPLGSDSL EYAWLIDVQA GSLTAKVTAP QLACLLEWGQ TFVFHVVCRE
960 970 980 990 1000
YELERPKSVI ICQHGIDRRF CESKLSCIPG PCPTSDDLKY TMIRLAVDGA
1010 1020 1030 1040 1050
DIYIVEHGCA TNIKMGAIRV ANCNLHNQSV GEGISAAIQD FQVRQYIEQL
1060 1070 1080 1090 1100
NNCRIGLQPA VLRRAYWLEA GSANLGLITV DIALAADHHS KHEAQRHFLE
1110 1120 1130 1140 1150
THDARTKRLW FLWPDDILKN KRCRNKCGCL GGCRFFGGTV TGLDFFKLEE
1160 1170 1180 1190 1200
LTPSSSSAFS STSAESDMYY GQSLLQPGEW IITKEIPKII DGNVNGMKRK
1210 1220 1230 1240 1250
EWENKSVGIE VERKTQHLSL QVPLRSHSSS SSSEENSSSS AAQPLLAGEK
1260 1270 1280 1290 1300
ESPSSVADDH LVQKEFLHGT KRDDGQASIP TEISGNSPVS PNTQDKSVGQ
1310 1320 1330 1340 1350
SPLRSPLKRQ ASVCSTRLGS TKSLTAAFYG DKQPVTVGVQ FSSDVSRSDE
1360 1370 1380 1390 1400
NVLDSPKQRR SFGSFPYTPS ADSNSFHQYR SMDSSMSMAD SEAYFSAAEE
1410 1420 1430 1440 1450
FEPISSDEGP GTYPGRKKKK KQTQQIDYSR GSIYHSVEGP LTGHGESIQD
1460 1470 1480 1490 1500
SRTLPFKTHP SQASFVSALG GEDDVIEHLY IVEGEKTVES EQITPQQPVM
1510 1520 1530 1540 1550
NCYQTYLTQF QVINWSVKHP TNKRTSKSSL HRPLDLDTPT SEESSSSFEQ
1560 1570 1580 1590 1600
LSVPTFKVIK QGLTANSLLD RGMQLSGSTS NTPYTPLEKK LADNTDDETL
1610 1620 1630 1640 1650
TEEWTLDQPV SQTRTTAIVE VKGTVDIVLT PLVAEALDRY IEAMVHCAST
1660 1670 1680 1690 1700
RHPAAIVDDL HAKVLREAVQ NSKTTFSENL SSKQDIRGTK TEQSTIGTTN
1710 1720 1730 1740 1750
QGQAQTNLTM KQDNVTIKGL QTNVSIPKVN LCLLQASVEE SPTTAPSRSV
1760 1770 1780 1790 1800
THVSLVALCF DRIATQVRMN RGVVEETSNN AEPGRTSNFD RYVHATKMQP
1810 1820 1830 1840 1850
QSSGSLRSNA GAEKGKEIAA KLNIHRVHGQ LRGLDTTDIG TCAITAIPFE
1860 1870 1880 1890 1900
KSKVLFTLEE LDEFTFVDET DQQAVPDVTR IGPSQEKWGW IMFECGLENL
1910 1920 1930 1940 1950
TIKGGRQSGA VLYNSFGIMG KASDTERGGV LTSNNSSDSP TGSGYNTDVS
1960 1970 1980 1990 2000
DDNLPCDRTS PSSDLNGNSV SDEQDEGVES DDLKKDLPLM PPPPDSCSMK
2010 2020 2030 2040 2050
LTIKEIWFSF AAPTNVRSHT HAFSRQLNLL STATPAVGAW LVPIDQLKSS
2060 2070 2080 2090 2100
LNKLETEGTL RICAVMGCIM TEALENKSVH FPLRSKYNRL TKVARFLQEN
2110 2120 2130 2140 2150
PSCLLCNILH HYLHQANYSI IDDATMSDGL PALVTLKKGL VALARQWMKF
2160 2170 2180 2190 2200
IVVTPAFKGV SLHRPAQPLK PQIAMDHEHE DGLGLDNGGG LQSDTSADGA
2210 2220 2230 2240 2250
EFEFDAATVS EHTMLLEGTA NRPPPGSSGP VTGAEIMRKL SKTHTHSDSA
2260 2270 2280 2290 2300
LKIKGIHPYH SLSYTSGDTA TDSPVHVGRA GMPVKDSPRK ESLLSYLTGS
2310 2320 2330 2340 2350
FPSLHNLLEG TPQRSSAAVK SSSLTRTGNT VATDMLSEHP LLSEPSSVSF
2360 2370 2380 2390 2400
YNWMSNAVGN RGSVLQESPV TKSGHNSLPT GVAPNLPTIP SASDFNTVLS
2410 2420 2430 2440 2450
SDQNTLDGTH SQHSTSQDDV AGVEEANQGF PAVQLADAQV VFKPLLSHTG
2460 2470 2480 2490 2500
IQSQDTMPFC YRMYFGEHLS FSGTLDCLRA DIVDSDTAKE RKGKRARRQG
2510 2520 2530 2540 2550
HVNLPPLEFK PALMLGTFSI SAVVMEKSVC TPQNSTSALS FHDLSKRYYN
2560 2570 2580 2590 2600
TFHCNFTISC QSISQHVDMA LVRLIHQFST MIDDIKATQT DIKLSRYTAG
2610 2620 2630 2640 2650
SASPTPTFKT RKHRDFRSSD FSRSSRGSLN GGNRVNNAKN KRTNNENNKK
2660 2670 2680 2690 2700
ESRNKNSLGR SERRTSKVSR KGSKDVVDHM TIHMDDSDSI TVSEQSEPSA
2710 2720 2730 2740 2750
ECWQNMYKLL NFYSLISDPT GILEKSSETF GPAGVRSPTE PTCKVVFENE
2760 2770 2780 2790 2800
QDNSSLTKTQ RKRSLVTSEP QHVTLIVFGI GMVNRTHLEA DIGGLTMESE
2810 2820 2830 2840 2850
LKRIHGSFTL KEKMKDVLHQ KMTETCATAH IGGVNIVLLE GITPNIQLED
2860 2870 2880 2890 2900
FPTSPTSTAK QEFLTVVKCS IAKSQALYSA QRGLKTNNAA VFKVGAISIN
2910 2920 2930 2940 2950
IPQHPATLHS MMVRSSHQLS KQISDLIRQP STAPQPVKED IATPLPSEKT
2960 2970 2980 2990 3000
PTSVNQTPVE TNEFPQLPEG LEKKPIVLKF SAMLDGIAIG AALLPSLKAE
3010 3020 3030 3040 3050
YKMGRMRSHG MTGAQTRFTF ELPNHRLRFT SKVSATDMST IPPSASLNLP
3060 3070 3080 3090 3100
PVTMSGKYIM EEHDSYSDQV WSIDELPSKQ GYYLQGNYLR CVAEVGSFEH
3110 3120 3130 3140 3150
NLTTDLLNHL VFVQKVFMKE VNEVIQKVSG GEQPIPLWNE HDGTADGDKP
3160 3170 3180 3190 3200
KILLYSLNLQ FKGIQVTATT PSMRAVRFET GLIELELSNR LQTKASPGSS
3210 3220 3230 3240 3250
SYLKLFGKCQ VDLNLALGQI VKHQVYEEAG SDFHQVAYFK TRIGLRNALR
3260 3270 3280 3290 3300
EEISGSSDRE AVLITLNRPI VYAQPVAFDR AVLFWLNYKA AYDNWNEQRM
3310 3320 3330 3340 3350
ALHKDIHMAT KEVVDMLPGI QQTSAQAFGT LFLQLTVNDL GICLPITNTA
3360 3370 3380 3390 3400
QSNHTGDLDT GSALVLTIES TLITACSSES LVSKGHFKNF CIRFADGFET
3410 3420 3430 3440 3450
SWDDWKPEIH GDLVMNACVV PDGTYEVCSR TTGQAAAESS SAGTWTLNVL
3460 3470 3480 3490 3500
WKMCGIDVHM DPNIGKRLNA LGNTLTTLTG EEDIDDIADL NSVNIADLSD
3510 3520 3530 3540 3550
EDEVDTMSPT IHTEATDYRR QAASASQPGE LRGRKIMKRI VDIRELNEQA
3560 3570 3580 3590 3600
KVIDDLKKLG ASEGTINQEI QRYQQLESVA VNDIRRDVRK KLRRSSMRAA
3610 3620 3630 3640 3650
SLKDKWGLSY KPSYSRSKSI SASGRPPLKR MERASSRVGE TEELPEIRVD
3660 3670 3680 3690 3700
AASPGPRVTF NIQDTFPEET ELDLLSVTIE GPSHYSSNSE GSCSVFSSPK
3710 3720 3730 3740 3750
TPGGFSPGIP FQTEEGRRDD SLSSTSEDSE KDEKDEDHER ERFYIYRKPS
3760 3770 3780 3790 3800
HTSRKKATGF AAVHQLFTER WPTTPVNRSL SGTATERNID FELDIRVEID
3810 3820 3830 3840 3850
SGKCVLHPTT LLQEHDDISL RRSYDRSSRS LDQDSPSKKK KFQTNYASTT
3860 3870 3880 3890 3900
HLMTGKKVPS SLQTKPSDLE TTVFYIPGVD VKLHYNSKTL KTESPNASRG
3910 3920 3930 3940 3950
SSLPRTLSKE SKLYGMKDSA TSPPSPPLPS TVQSKTNTLL PPQPPPIPAA
3960 3970 3980 3990 4000
KGKGSGGVKT AKLYAWVALQ SLPEEMVISP CLLDFLEKAL ETIPITPVER
4010 4020 4030 4040 4050
NYTAVSSQDE DMGHFEIPDP MEESTTSLVS SSTSAYSSFP VDVVVYVRVQ
4060 4070 4080 4090 4100
PSQIKFSCLP VSRVECMLKL PSLDLVFSSN RGELETLGTT YPAETLSPGG
4110 4120 4130 4140 4150
NATQSGTKTS ASKTGIPGSS GLGSPLGRSR HSSSQSDLTS SSSSSSGLSF
4160 4170 4180 4190 4200
TACMSDFSLY VFHPYGAGKQ KTAVSGLTPG SGGLGNVDEE PTSVTGRKDS
4210 4220 4230 4240 4250
LSINLEFVKV SLSRIRRSGG ASFFESQSVS KSASKMDTTL INISAVCDIG
4260 4270 4280 4290 4300
SASFKYDMRR LSEILAFPRA WYRRSIARRL FLGDQTINLP TSGPGTPDSI
4310 4320 4330 4340 4350
EGVSQHLSPE SSRKAYCKTW EQPSQSASFT HMPQSPNVFN EHMTNSTMSP
4360 4370 4380 4390 4400
GTVGQSLKSP ASIRSRSVSD SSVPRRDSLS KTSTPFNKSN KAASQQGTPW
4410 4420 4430 4440 4450
ETLVVFAINL KQLNVQMNMS NVMGNTTWTT SGLKSQGRLS VGSNRDREIS
4460 4470 4480 4490 4500
MSVGLGRSQL DSKGGVVGGT IDVNALEMVA HISEHPNQQP SHKIQITMGS
4510 4520 4530 4540 4550
TEARVDYMGS SILMGIFSNA DLKLQDEWKV NLYNTLDSSI TDKSEIFVHG
4560 4570 4580 4590 4600
DLKWDIFQVM ISRSTTPDLI KIGMKLQEFF TQQFDTSKRA LSTWGPVPYL
4610 4620 4630 4640 4650
PPKTMTSNLE KSSQEQLLDA AHHRHWPGVL KVVSGCHISL FQIPLPEDGM
4660 4670 4680 4690 4700
QFGGSMSLHG NHMTLACFHG PNFRSKSWAL FHLEEPNIAF WTEAQKIWED
4710 4720 4730 4740 4750
GSSDHSTYIV QTLDFHLGHN TMVTKPCGAL ESPMATITKI TRRRHENPPH
4760 4770 4780 4790 4800
GVASVKEWFN YVTATRNEEL NLLRNVDANN TENSTTVKNS SLLSGFRGGS
4810 4820 4830 4840 4850
SYNHETETIF ALPRMQLDFK SIHVQEPQEP SLQDASLKPK VECSVVTEFT
4860 4870 4880 4890 4900
DHICVTMDAE LIMFLHDLVS AYLKEKEKAI FPPRILSTRP GQKSPIIIHD
4910 4920 4930 4940 4950
DNSSDKDRED SITYTTVDWR DFMCNTWHLE PTLRLISWTG RKIDPVGVDY
4960 4970 4980 4990 5000
ILQKLGFHHA RTTIPKWLQR GVMDPLDKVL SVLIKKLGTA LQDEKEKKGK

DKEEH
Length:5,005
Mass (Da):555,482
Last modified:January 11, 2011 - v2
Checksum:i8EF3E5E73AF2A37D
GO
Isoform 2 (identifier: Q2LD37-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     871-871: Missing.
     2865-2874: TVVKCSIAKS → YVILFFFMAL
     2875-5005: Missing.

Show »
Length:2,873
Mass (Da):320,011
Checksum:i3B1ED8906210DC5B
GO
Isoform 4 (identifier: Q2LD37-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     871-871: Missing.

Show »
Length:5,004
Mass (Da):555,354
Checksum:i3C15463DF6C3EC96
GO
Isoform 5 (identifier: Q2LD37-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     932-984: LACLLEWGQT...LSCIPGPCPT → VWFSEYYLLT...ILAIQNFSYR
     985-5005: Missing.

Note: No experimental confirmation available.
Show »
Length:984
Mass (Da):113,058
Checksum:iC0A50F4C57EB6A88
GO
Isoform 6 (identifier: Q2LD37-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3666-3680: FPEETELDLLSVTIE → IAEIRRKKISFKVVF
     3681-5005: Missing.

Note: No experimental confirmation available.
Show »
Length:3,680
Mass (Da):409,385
Checksum:i8C8ABFE3C29EBEFD
GO
Isoform 7 (identifier: Q2LD37-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     4245-4251: AVCDIGS → GTQFYSF
     4252-5005: Missing.

Note: No experimental confirmation available.
Show »
Length:4,251
Mass (Da):470,929
Checksum:i7B909C4F2690D1C8
GO

Sequence cautioni

The sequence AAH18094 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH45783 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAI08275 differs from that shown. Reason: Erroneous termination at position 4807. Translated as Glu.Curated
The sequence BAB15057 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC85988 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC87084 differs from that shown.Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti26 – 261N → G in ABC59821 (PubMed:16545529).Curated
Sequence conflicti155 – 1551E → G in ABC59821 (PubMed:16545529).Curated
Sequence conflicti247 – 2471M → T in ABC59821 (PubMed:16545529).Curated
Sequence conflicti336 – 3361G → S in ABC59821 (PubMed:16545529).Curated
Sequence conflicti571 – 5711D → G in ABC59821 (PubMed:16545529).Curated
Sequence conflicti857 – 8571L → P in BAC85988 (PubMed:14702039).Curated
Sequence conflicti2456 – 24561T → A in CAI56756 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti978 – 9781I → T.
Corresponds to variant rs6848868 [ dbSNP | Ensembl ].
VAR_038547
Natural varianti1951 – 19511D → E.
Corresponds to variant rs56363411 [ dbSNP | Ensembl ].
VAR_061241
Natural varianti2521 – 25211S → R.
Corresponds to variant rs45608936 [ dbSNP | Ensembl ].
VAR_061242
Natural varianti4352 – 43521T → A.
Corresponds to variant rs2306369 [ dbSNP | Ensembl ].
VAR_038548
Natural varianti4786 – 47861T → A.
Corresponds to variant rs10017270 [ dbSNP | Ensembl ].
VAR_038549

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei871 – 8711Missing in isoform 2 and isoform 4. 2 PublicationsVSP_031023
Alternative sequencei932 – 98453LACLL…GPCPT → VWFSEYYLLTYFLFPFSTHL LKNNLYACLNVHCISTDGIL MGVILAIQNFSYR in isoform 5. 1 PublicationVSP_031024Add
BLAST
Alternative sequencei985 – 50054021Missing in isoform 5. 1 PublicationVSP_031025Add
BLAST
Alternative sequencei2865 – 287410TVVKCSIAKS → YVILFFFMAL in isoform 2. 2 PublicationsVSP_031026
Alternative sequencei2875 – 50052131Missing in isoform 2. 2 PublicationsVSP_031027Add
BLAST
Alternative sequencei3666 – 368015FPEET…SVTIE → IAEIRRKKISFKVVF in isoform 6. 1 PublicationVSP_031028Add
BLAST
Alternative sequencei3681 – 50051325Missing in isoform 6. 1 PublicationVSP_031029Add
BLAST
Alternative sequencei4245 – 42517AVCDIGS → GTQFYSF in isoform 7. CuratedVSP_031030
Alternative sequencei4252 – 5005754Missing in isoform 7. CuratedVSP_031031Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ335469 mRNA. Translation: ABC59821.1.
AC022489 Genomic DNA. No translation available.
AC127089 Genomic DNA. Translation: AAY41044.1.
AC104658 Genomic DNA. No translation available.
AK025057 mRNA. Translation: BAB15057.1. Different initiation.
AK124902 mRNA. Translation: BAC85988.1. Different initiation.
AK127686 mRNA. Translation: BAC87084.1. Sequence problems.
AB037792 mRNA. Translation: BAA92609.1.
AL137254 mRNA. Translation: CAB70656.1.
AL137384 mRNA. Translation: CAB70718.1.
AL137532 mRNA. Translation: CAB70795.1.
CR936613 mRNA. Translation: CAI56756.1.
AB029032 mRNA. Translation: BAA83061.2.
BC108274 mRNA. Translation: AAI08275.1. Sequence problems.
BC018094 mRNA. Translation: AAH18094.2. Different initiation.
BC045783 mRNA. Translation: AAH45783.1. Different initiation.
CCDSiCCDS43267.1. [Q2LD37-1]
PIRiT46326.
T46376.
T46438.
RefSeqiNP_056127.2. NM_015312.3. [Q2LD37-1]
XP_005263344.1. XM_005263287.1. [Q2LD37-1]
XP_006714407.1. XM_006714344.1. [Q2LD37-4]
UniGeneiHs.408142.

Genome annotation databases

EnsembliENST00000264501; ENSP00000264501; ENSG00000138688. [Q2LD37-1]
ENST00000388738; ENSP00000373390; ENSG00000138688. [Q2LD37-1]
GeneIDi84162.
KEGGihsa:84162.
UCSCiuc003ieh.4. human. [Q2LD37-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ335469 mRNA. Translation: ABC59821.1.
AC022489 Genomic DNA. No translation available.
AC127089 Genomic DNA. Translation: AAY41044.1.
AC104658 Genomic DNA. No translation available.
AK025057 mRNA. Translation: BAB15057.1. Different initiation.
AK124902 mRNA. Translation: BAC85988.1. Different initiation.
AK127686 mRNA. Translation: BAC87084.1. Sequence problems.
AB037792 mRNA. Translation: BAA92609.1.
AL137254 mRNA. Translation: CAB70656.1.
AL137384 mRNA. Translation: CAB70718.1.
AL137532 mRNA. Translation: CAB70795.1.
CR936613 mRNA. Translation: CAI56756.1.
AB029032 mRNA. Translation: BAA83061.2.
BC108274 mRNA. Translation: AAI08275.1. Sequence problems.
BC018094 mRNA. Translation: AAH18094.2. Different initiation.
BC045783 mRNA. Translation: AAH45783.1. Different initiation.
CCDSiCCDS43267.1. [Q2LD37-1]
PIRiT46326.
T46376.
T46438.
RefSeqiNP_056127.2. NM_015312.3. [Q2LD37-1]
XP_005263344.1. XM_005263287.1. [Q2LD37-1]
XP_006714407.1. XM_006714344.1. [Q2LD37-4]
UniGeneiHs.408142.

3D structure databases

ProteinModelPortaliQ2LD37.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123919. 1 interaction.
IntActiQ2LD37. 3 interactions.
STRINGi9606.ENSP00000264501.

PTM databases

iPTMnetiQ2LD37.
PhosphoSiteiQ2LD37.

Polymorphism and mutation databases

BioMutaiKIAA1109.
DMDMi317373370.

Proteomic databases

EPDiQ2LD37.
MaxQBiQ2LD37.
PaxDbiQ2LD37.
PeptideAtlasiQ2LD37.
PRIDEiQ2LD37.

Protocols and materials databases

DNASUi84162.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264501; ENSP00000264501; ENSG00000138688. [Q2LD37-1]
ENST00000388738; ENSP00000373390; ENSG00000138688. [Q2LD37-1]
GeneIDi84162.
KEGGihsa:84162.
UCSCiuc003ieh.4. human. [Q2LD37-1]

Organism-specific databases

CTDi84162.
GeneCardsiKIAA1109.
HGNCiHGNC:26953. KIAA1109.
HPAiHPA038076.
MIMi611565. gene.
neXtProtiNX_Q2LD37.
PharmGKBiPA142671621.
HUGEiSearch...
Search...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3596. Eukaryota.
ENOG410XT7P. LUCA.
GeneTreeiENSGT00640000091487.
HOVERGENiHBG108027.
InParanoidiQ2LD37.
OMAiVPTTCNT.
OrthoDBiEOG091G004E.
PhylomeDBiQ2LD37.
TreeFamiTF105915.

Miscellaneous databases

ChiTaRSiKIAA1109. human.
GeneWikiiKIAA1109.
GenomeRNAii84162.
PROiQ2LD37.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138688.
ExpressionAtlasiQ2LD37. baseline and differential.
GenevisibleiQ2LD37. HS.

Family and domain databases

InterProiIPR018863. Fragile_site-assoc_C.
IPR033616. KIAA1109.
[Graphical view]
PANTHERiPTHR31640. PTHR31640. 2 hits.
PfamiPF10479. FSA_C. 2 hits.
[Graphical view]
SMARTiSM01220. FSA_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiK1109_HUMAN
AccessioniPrimary (citable) accession number: Q2LD37
Secondary accession number(s): Q4W598
, Q5CZA9, Q6ZS70, Q6ZV75, Q86XA5, Q8WVD8, Q9H742, Q9NT48, Q9NTC3, Q9NTI4, Q9P2H6, Q9UPP3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: January 11, 2011
Last modified: September 7, 2016
This is version 95 of the entry and version 2 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

Miscellaneous

KIAA1109 is mapped in the genomic region associated with susceptibility to celiac disease (CELIAC6).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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

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.