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Protein

AP2-interacting clathrin-endocytosis protein

Gene

KIAA1107

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

Functioni

Involved in clathrin-mediated endocytosis at the synapse. Plays a role in neuronal development and in synaptic vesicle recycling in mature neurons, a process required for normal synaptic transmission.By similarity

Caution

It is uncertain whether Met-1, Met-56 or Met-131 is the initiator.Curated

GO - Biological processi

Keywordsi

Biological processEndocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
AP2-interacting clathrin-endocytosis protein1 Publication
Short name:
APache1 Publication
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:29192 KIAA1107
MIMi617945 gene
neXtProtiNX_Q9UPP5

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671620

Polymorphism and mutation databases

BioMutaiKIAA1107
DMDMi172045554

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003206771 – 1409AP2-interacting clathrin-endocytosis proteinAdd BLAST1409

Proteomic databases

EPDiQ9UPP5
PaxDbiQ9UPP5
PeptideAtlasiQ9UPP5
PRIDEiQ9UPP5
ProteomicsDBi85400
85401 [Q9UPP5-2]

PTM databases

iPTMnetiQ9UPP5
PhosphoSitePlusiQ9UPP5

Expressioni

Gene expression databases

CleanExiHS_KIAA1107

Organism-specific databases

HPAiHPA024216

Interactioni

Subunit structurei

Interacts (via N-terminus) with adaptor protein complex AP-2 subunits alpha (AP2A1) and beta (AP2B1).1 Publication

Protein-protein interaction databases

BioGridi116883, 22 interactors
IntActiQ9UPP5, 23 interactors
MINTiQ9UPP5

Structurei

3D structure databases

SMRiQ9UPP5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IFU8 Eukaryota
ENOG4111MST LUCA
HOGENOMiHOG000168280
HOVERGENiHBG108026
InParanoidiQ9UPP5
PhylomeDBiQ9UPP5

Family and domain databases

InterProiView protein in InterPro
IPR027907 DUF4596
PfamiView protein in Pfam
PF15363 DUF4596, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9UPP5-1) [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
MESDRLIISL PRVKWTEAAL TMASQLQEKC IAFIVDNFSK IIQSENFALL
60 70 80 90 100
LQSQAMSSTA DLLDTILKAI EENITTENSC SLLMALDTLL NSDSTKEMGF
110 120 130 140 150
TCKIQALRDK LWIFLVQSFY AVRHTESWKL MSTDDQQKIQ AAAFDKGDDR
160 170 180 190 200
RLGKKPIFSS SQQRKQVSDS GDIKIKSWRG NNKKECWSYL STNKKMKSDG
210 220 230 240 250
LGASGHSSST NRNSINKTLK QDDVKEKDGT KIASKITKEL KTGGKNVSGK
260 270 280 290 300
PKTVTKSKTE NGDKARLENM SPRQVVERSA TAAAAATGQK NLLNGKGVRN
310 320 330 340 350
QEGQISGARP KVLTGNLNVQ AKAKPLKKAT GKDSPCLSIA GPSSRSTDSS
360 370 380 390 400
MEFSISTECL DEPKENGSTE EEKPSGHKLS FCDSPGQMMK NSVDSVKNST
410 420 430 440 450
VAIKSRPVSR VTNGTSNKKS IHEQDTNVNN SVLKKVSGKG CSEPVPQAIL
460 470 480 490 500
KKRGTSNGCT AAQQRTKSTP SNLTKTQGSQ GESPNSVKSS VSSRQSDENV
510 520 530 540 550
AKLDHNTTTE KQAPKRKMVK QVHTALPKVN AKIVAMPKNL NQSKKGETLN
560 570 580 590 600
NKDSKQKMPP GQVISKTQPS SQRPLKHETS TVQKSMFHDV RDNNNKDSVS
610 620 630 640 650
EQKPHKPLIN LASEISDAEA LQSSCRPDPQ KPLNDQEKEK LALECQNISK
660 670 680 690 700
LDKSLKHELE SKQICLDKSE TKFPNHKETD DCDAANICCH SVGSDNVNSK
710 720 730 740 750
FYSTTALKYM VSNPNENSLN SNPVCDLDST SAGQIHLISD RENQVGRKDT
760 770 780 790 800
NKQSSIKCVE DVSLCNPERT NGTLNSAQED KKSKVPVEGL TIPSKLSDES
810 820 830 840 850
AMDEDKHATA DSDVSSKCFS GQLSEKNSPK NMETSESPES HETPETPFVG
860 870 880 890 900
HWNLSTGVLH QRESPESDTG SATTSSDDIK PRSEDYDAGG SQDDDGSNDR
910 920 930 940 950
GISKCGTMLC HDFLGRSSSD TSTPEELKIY DSNLRIEVKM KKQSNNDLFQ
960 970 980 990 1000
VNSTSDDEIP RKRPEIWSRS AIVHSREREN IPRGSVQFAQ EIDQVSSSAD
1010 1020 1030 1040 1050
ETEDERSEAE NVAENFSISN PAPQQFQGII NLAFEDATEN ECREFSANKK
1060 1070 1080 1090 1100
FKRSVLLSVD ECEELGSDEG EVHTPFQASV DSFSPSDVFD GISHEHHGRT
1110 1120 1130 1140 1150
CYSRFSRESE DNILECKQNK GNSVCKNEST VLDLSSIDSS RKNKQSVSAT
1160 1170 1180 1190 1200
EKKNTIDVLS SRSRQLLRED KKVNNGSNVE NDIQQRSKFL DSDVKSQERP
1210 1220 1230 1240 1250
CHLDLHQREP NSDIPKNSST KSLDSFRSQV LPQEGPVKES HSTTTEKANI
1260 1270 1280 1290 1300
ALSAGDIDDC DTLAQTRMYD HRPSKTLSPI YEMDVIEAFE QKVESETHVT
1310 1320 1330 1340 1350
DMDFEDDQHF AKQDWTLLKQ LLSEQDSNLD VTNSVPEDLS LAQYLINQTL
1360 1370 1380 1390 1400
LLARDSSKPQ GITHIDTLNR WSELTSPLDS SASITMASFS SEDCSPQGEW

TILELETQH
Length:1,409
Mass (Da):155,681
Last modified:February 26, 2008 - v2
Checksum:i6CC150E2EDE1861B
GO
Isoform 2 (identifier: Q9UPP5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1256-1259: DIDD → NVQK
     1260-1409: Missing.

Note: No experimental confirmation available.
Show »
Length:1,259
Mass (Da):138,601
Checksum:i10E0393711C281DF
GO

Sequence cautioni

The sequence AAC28132 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1016F → L in AAH37317 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060300422H → R. Corresponds to variant dbSNP:rs2128647Ensembl.1
Natural variantiVAR_060301442S → I. Corresponds to variant dbSNP:rs12084085Ensembl.1
Natural variantiVAR_060302522V → L. Corresponds to variant dbSNP:rs7552286Ensembl.1
Natural variantiVAR_060303602Q → R. Corresponds to variant dbSNP:rs11166332Ensembl.1
Natural variantiVAR_060304681D → G. Corresponds to variant dbSNP:rs7523466Ensembl.1
Natural variantiVAR_060305715N → Y. Corresponds to variant dbSNP:rs7523552Ensembl.1
Natural variantiVAR_060306826K → E. Corresponds to variant dbSNP:rs3738439Ensembl.1
Natural variantiVAR_060307945N → S. Corresponds to variant dbSNP:rs560389Ensembl.1
Natural variantiVAR_0603081048N → T. Corresponds to variant dbSNP:rs565156Ensembl.1
Natural variantiVAR_0603091083F → V. Corresponds to variant dbSNP:rs17578364Ensembl.1
Natural variantiVAR_0603101158V → I. Corresponds to variant dbSNP:rs566576Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0317371256 – 1259DIDD → NVQK in isoform 2. 1 Publication4
Alternative sequenceiVSP_0317381260 – 1409Missing in isoform 2. 1 PublicationAdd BLAST150

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC104836 Genomic DNA No translation available.
AF017090 mRNA Translation: AAC28132.1 Different initiation.
AB029030 mRNA Translation: BAA83059.1
BC037317 mRNA Translation: AAH37317.2
RefSeqiNP_056052.3, NM_015237.3
UniGeneiHs.21554

Genome annotation databases

GeneIDi23285
KEGGihsa:23285

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC104836 Genomic DNA No translation available.
AF017090 mRNA Translation: AAC28132.1 Different initiation.
AB029030 mRNA Translation: BAA83059.1
BC037317 mRNA Translation: AAH37317.2
RefSeqiNP_056052.3, NM_015237.3
UniGeneiHs.21554

3D structure databases

SMRiQ9UPP5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116883, 22 interactors
IntActiQ9UPP5, 23 interactors
MINTiQ9UPP5

PTM databases

iPTMnetiQ9UPP5
PhosphoSitePlusiQ9UPP5

Polymorphism and mutation databases

BioMutaiKIAA1107
DMDMi172045554

Proteomic databases

EPDiQ9UPP5
PaxDbiQ9UPP5
PeptideAtlasiQ9UPP5
PRIDEiQ9UPP5
ProteomicsDBi85400
85401 [Q9UPP5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi23285
KEGGihsa:23285

Organism-specific databases

CTDi23285
GeneCardsiKIAA1107
HGNCiHGNC:29192 KIAA1107
HPAiHPA024216
MIMi617945 gene
neXtProtiNX_Q9UPP5
PharmGKBiPA142671620
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFU8 Eukaryota
ENOG4111MST LUCA
HOGENOMiHOG000168280
HOVERGENiHBG108026
InParanoidiQ9UPP5
PhylomeDBiQ9UPP5

Miscellaneous databases

GenomeRNAii23285
PROiPR:Q9UPP5
SOURCEiSearch...

Gene expression databases

CleanExiHS_KIAA1107

Family and domain databases

InterProiView protein in InterPro
IPR027907 DUF4596
PfamiView protein in Pfam
PF15363 DUF4596, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiK1107_HUMAN
AccessioniPrimary (citable) accession number: Q9UPP5
Secondary accession number(s): O14767, Q8N3X7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: September 12, 2018
This is version 97 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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