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Protein

Uncharacterized protein KIAA1683

Gene

KIAA1683

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

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130518-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein KIAA1683
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:29350. KIAA1683.

Subcellular locationi

GO - Cellular componenti

  • mitochondrion Source: LIFEdb
  • nucleus Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi80726.
OpenTargetsiENSG00000130518.
PharmGKBiPA134952902.

Polymorphism and mutation databases

BioMutaiKIAA1683.
DMDMi73920083.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000508011 – 1180Uncharacterized protein KIAA1683Add BLAST1180

Proteomic databases

PaxDbiQ9H0B3.
PeptideAtlasiQ9H0B3.
PRIDEiQ9H0B3.

PTM databases

iPTMnetiQ9H0B3.
PhosphoSitePlusiQ9H0B3.

Expressioni

Gene expression databases

BgeeiENSG00000130518.
CleanExiHS_KIAA1683.
ExpressionAtlasiQ9H0B3. baseline and differential.
GenevisibleiQ9H0B3. HS.

Organism-specific databases

HPAiHPA042409.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CALM3P621584EBI-745878,EBI-397435
CALML3P274824EBI-745878,EBI-747537
HEL-S-72B4DJ515EBI-745878,EBI-10171450
LZTS2Q9BRK43EBI-745878,EBI-741037
MID2Q9UJV3-23EBI-745878,EBI-10172526
PUF60Q9UHX13EBI-745878,EBI-1053259
RBM17Q96I253EBI-745878,EBI-740272
SIAH1Q8IUQ43EBI-745878,EBI-747107
TRIM27P143733EBI-745878,EBI-719493

Protein-protein interaction databases

BioGridi123276. 59 interactors.
IntActiQ9H0B3. 12 interactors.
MINTiMINT-1439991.
STRINGi9606.ENSP00000376213.

Structurei

3D structure databases

ProteinModelPortaliQ9H0B3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini103 – 132IQ 1PROSITE-ProRule annotationAdd BLAST30
Domaini926 – 955IQ 2PROSITE-ProRule annotationAdd BLAST30
Domaini949 – 978IQ 3PROSITE-ProRule annotationAdd BLAST30
Domaini972 – 1001IQ 4PROSITE-ProRule annotationAdd BLAST30
Domaini1113 – 1142IQ 5PROSITE-ProRule annotationAdd BLAST30
Domaini1136 – 1165IQ 6PROSITE-ProRule annotationAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi336 – 424Thr-richAdd BLAST89

Sequence similaritiesi

Contains 6 IQ domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IEXS. Eukaryota.
ENOG41118PW. LUCA.
GeneTreeiENSGT00390000000311.
HOGENOMiHOG000113175.
HOVERGENiHBG079541.
InParanoidiQ9H0B3.
OMAiDHRCFQS.
OrthoDBiEOG091G00Z4.
PhylomeDBiQ9H0B3.
TreeFamiTF337595.

Family and domain databases

InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00612. IQ. 6 hits.
[Graphical view]
SMARTiSM00015. IQ. 6 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS50096. IQ. 6 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H0B3-1) [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
MTLQGRADLS GNQGNAAGRL ATVHEPVVTQ WAVHPPAPAH PSLLDKMEKA
60 70 80 90 100
PPQPQHEGLK SKEHLPQQPA EGKTASRRVP RLRAVVESQA FKNILVDEMD
110 120 130 140 150
MMHARAATLI QANWRGYWLR QKLISQMMAA KAIQEAWRRF NKRHILHSSK
160 170 180 190 200
SLVKKTRAEE GDIPYHAPQQ VRFQHPEENR LLSPPIMVNK ETQFPSCDNL
210 220 230 240 250
VLCRPQSSPL LQPPAAQGTP EPCVQGPHAA RVRGLAFLPH QTVTIRFPCP
260 270 280 290 300
VSLDAKCQPC LLTRTIRSTC LVHIEGDSVK TKRVSARTNK ARAPETPLSR
310 320 330 340 350
RYDQAVTRPS RAQTQGPVKA ETPKAPFQIC PGPMITKTLL QTYPVVSVTL
360 370 380 390 400
PQTYPASTMT TTPPKTSPVP KVTIIKTPAQ MYPGPTVTKT APHTCPMPTM
410 420 430 440 450
TKIQVHPTAS RTGTPRQTCP ATITAKNRPQ VSLLASIMKS LPQVCPGPAM
460 470 480 490 500
AKTPPQMHPV TTPAKNPLQT CLSATMSKTS SQRSPVGVTK PSPQTRLPAM
510 520 530 540 550
ITKTPAQLRS VATILKTLCL ASPTVANVKA PPQVAVAAGT PNTSGSIHEN
560 570 580 590 600
PPKAKATVNV KQAAKVVKAS SPSYLAEGKI RCLAQPHPGT GVPRAAAELP
610 620 630 640 650
LEAEKIKTGT QKQAKTDMAF KTSVAVEMAG APSWTKVAEE GDKPPHVYVP
660 670 680 690 700
VDMAVTLPRG QLAAPLTNAS SQRHPPCLSQ RPLAAPLTKA SSQGHLPTEL
710 720 730 740 750
TKTPSLAHLD TCLSKMHSQT HLATGAVKVQ SQAPLATCLT KTQSRGQPIT
760 770 780 790 800
DITTCLIPAH QAADLSSNTH SQVLLTGSKV SNHACQRLGG LSAPPWAKPE
810 820 830 840 850
DRQTQPQPHG HVPGKTTQGG PCPAACEVQG MLVPPMAPTG HSTCNVESWG
860 870 880 890 900
DNGATRAQPS MPGQAVPCQE DTGPADAGVV GGQSWNRAWE PARGAASWDT
910 920 930 940 950
WRNKAVVPPR RSGEPMVSMQ AAEEIRILAV ITIQAGVRGY LARRRIRLWH
960 970 980 990 1000
RGAMVIQATW RGYRVRRNLA HLCRATTTIQ SAWRGYSTRR DQARHWQMLH
1010 1020 1030 1040 1050
PVTWVELGSR AGVMSDRSWF QDGRARTVSD HRCFQSCQAH ACSVCHSLSS
1060 1070 1080 1090 1100
RIGSPPSVVM LVGSSPRTCH TCGRTQPTRV VQGMGQGTEG PGAVSWASAY
1110 1120 1130 1140 1150
QLAALSPRQP HRQDKAATAI QSAWRGFKIR QQMRQQQMAA KIVQATWRGH
1160 1170 1180
HTRSCLKNTE ALLGPADPSA SSRHMHWPGI
Length:1,180
Mass (Da):127,693
Last modified:March 1, 2001 - v1
Checksum:iA81A2824C2794AC3
GO
Isoform 2 (identifier: Q9H0B3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     440-1053: Missing.
     1148-1180: RGHHTRSCLKNTEALLGPADPSASSRHMHWPGI → HLGPWLPAVGTSWEALMALWV

Show »
Length:554
Mass (Da):60,963
Checksum:i40386EC8A196A156
GO
Isoform 3 (identifier: Q9H0B3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-736: Missing.
     737-872: TCLTKTQSRG...GQAVPCQEDT → MAPSSRWDAM...KASLNSTILQ

Show »
Length:444
Mass (Da):49,193
Checksum:i1F32C281B6FCEEEB
GO
Isoform 4 (identifier: Q9H0B3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     872-872: T → TVGSLLASLC...LGPVRPQTSK

Note: No experimental confirmation available.
Show »
Length:1,367
Mass (Da):147,266
Checksum:iDA1B0ADE754F8578
GO
Isoform 5 (identifier: Q9H0B3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.

Note: No experimental confirmation available.
Show »
Length:1,134
Mass (Da):122,901
Checksum:i9DD6A52B63131CD9
GO

Sequence cautioni

The sequence BAB21774 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti381M → V in BAB71500 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02341844L → P.2 PublicationsCorresponds to variant rs1469023dbSNPEnsembl.1
Natural variantiVAR_04952050A → V.Corresponds to variant rs3810431dbSNPEnsembl.1
Natural variantiVAR_049521197C → R.1 PublicationCorresponds to variant rs12609001dbSNPEnsembl.1
Natural variantiVAR_023419235L → V.2 PublicationsCorresponds to variant rs8103906dbSNPEnsembl.1
Natural variantiVAR_023420285S → T.2 PublicationsCorresponds to variant rs8104533dbSNPEnsembl.1
Natural variantiVAR_023421359M → T.2 PublicationsCorresponds to variant rs3746186dbSNPEnsembl.1
Natural variantiVAR_049522524T → A.Corresponds to variant rs12462974dbSNPEnsembl.1
Natural variantiVAR_049523610T → P.2 PublicationsCorresponds to variant rs2277922dbSNPEnsembl.1
Natural variantiVAR_049524614A → V.Corresponds to variant rs16982285dbSNPEnsembl.1
Natural variantiVAR_034042648Y → F.2 PublicationsCorresponds to variant rs8110972dbSNPEnsembl.1
Natural variantiVAR_034043823P → R.1 PublicationCorresponds to variant rs12608777dbSNPEnsembl.1
Natural variantiVAR_049525835P → L.1 PublicationCorresponds to variant rs2277921dbSNPEnsembl.1
Natural variantiVAR_023422908P → H.3 PublicationsCorresponds to variant rs999813dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0154731 – 736Missing in isoform 3. 1 PublicationAdd BLAST736
Alternative sequenceiVSP_0457131 – 46Missing in isoform 5. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_015474440 – 1053Missing in isoform 2. 1 PublicationAdd BLAST614
Alternative sequenceiVSP_015475737 – 872TCLTK…CQEDT → MAPSSRWDAMGPKNSYRSVH GRIVPELLESSVARVRPLQY VQRQPSQASARSGANPTHRP SAEVRPVIRTGEMTHSSVIP PLAPGVRRVSLGYESSPSGS LPPLFNQESPWRRQDSYSPQ NPAVSHKASLNSTILQ in isoform 3. 1 PublicationAdd BLAST136
Alternative sequenceiVSP_045714872T → TVGSLLASLCAEVAGVLASQ EDLRTLLAKALSQGEVWAAL NQALSKEVLGATVTKALPQS MLSMALVKALSWSELRLTLS RALSRGELRAELTKVMQGKL AEVLSKALTEEEWVALSQAL CQGELGALLSQSWCRVALRT GTILPKAASKSTGSGVTKTP ALVKVACRRSPSAAWGPSLG PVRPQTSK in isoform 4. 1 Publication1
Alternative sequenceiVSP_0154761148 – 1180RGHHT…HWPGI → HLGPWLPAVGTSWEALMALW V in isoform 2. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136867 mRNA. Translation: CAB66801.1.
AK057466 mRNA. Translation: BAB71500.1.
AK302431 mRNA. Translation: BAG63734.1.
AC008397 Genomic DNA. No translation available.
BC034327 mRNA. Translation: AAH34327.1.
BC112932 mRNA. Translation: AAI12933.1.
AB051470 mRNA. Translation: BAB21774.1. Sequence problems.
CCDSiCCDS32958.1. [Q9H0B3-1]
CCDS46017.1. [Q9H0B3-4]
CCDS46018.1. [Q9H0B3-5]
RefSeqiNP_001138776.1. NM_001145304.1. [Q9H0B3-4]
NP_001138777.1. NM_001145305.1. [Q9H0B3-5]
NP_079525.1. NM_025249.3. [Q9H0B3-1]
XP_005260141.1. XM_005260084.1. [Q9H0B3-4]
UniGeneiHs.732366.

Genome annotation databases

EnsembliENST00000392413; ENSP00000376213; ENSG00000130518. [Q9H0B3-4]
ENST00000600328; ENSP00000470780; ENSG00000130518. [Q9H0B3-1]
ENST00000600359; ENSP00000472912; ENSG00000130518. [Q9H0B3-5]
GeneIDi80726.
KEGGihsa:80726.
UCSCiuc002nin.3. human. [Q9H0B3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136867 mRNA. Translation: CAB66801.1.
AK057466 mRNA. Translation: BAB71500.1.
AK302431 mRNA. Translation: BAG63734.1.
AC008397 Genomic DNA. No translation available.
BC034327 mRNA. Translation: AAH34327.1.
BC112932 mRNA. Translation: AAI12933.1.
AB051470 mRNA. Translation: BAB21774.1. Sequence problems.
CCDSiCCDS32958.1. [Q9H0B3-1]
CCDS46017.1. [Q9H0B3-4]
CCDS46018.1. [Q9H0B3-5]
RefSeqiNP_001138776.1. NM_001145304.1. [Q9H0B3-4]
NP_001138777.1. NM_001145305.1. [Q9H0B3-5]
NP_079525.1. NM_025249.3. [Q9H0B3-1]
XP_005260141.1. XM_005260084.1. [Q9H0B3-4]
UniGeneiHs.732366.

3D structure databases

ProteinModelPortaliQ9H0B3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123276. 59 interactors.
IntActiQ9H0B3. 12 interactors.
MINTiMINT-1439991.
STRINGi9606.ENSP00000376213.

PTM databases

iPTMnetiQ9H0B3.
PhosphoSitePlusiQ9H0B3.

Polymorphism and mutation databases

BioMutaiKIAA1683.
DMDMi73920083.

Proteomic databases

PaxDbiQ9H0B3.
PeptideAtlasiQ9H0B3.
PRIDEiQ9H0B3.

Protocols and materials databases

DNASUi80726.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000392413; ENSP00000376213; ENSG00000130518. [Q9H0B3-4]
ENST00000600328; ENSP00000470780; ENSG00000130518. [Q9H0B3-1]
ENST00000600359; ENSP00000472912; ENSG00000130518. [Q9H0B3-5]
GeneIDi80726.
KEGGihsa:80726.
UCSCiuc002nin.3. human. [Q9H0B3-1]

Organism-specific databases

CTDi80726.
DisGeNETi80726.
GeneCardsiKIAA1683.
HGNCiHGNC:29350. KIAA1683.
HPAiHPA042409.
neXtProtiNX_Q9H0B3.
OpenTargetsiENSG00000130518.
PharmGKBiPA134952902.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEXS. Eukaryota.
ENOG41118PW. LUCA.
GeneTreeiENSGT00390000000311.
HOGENOMiHOG000113175.
HOVERGENiHBG079541.
InParanoidiQ9H0B3.
OMAiDHRCFQS.
OrthoDBiEOG091G00Z4.
PhylomeDBiQ9H0B3.
TreeFamiTF337595.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130518-MONOMER.

Miscellaneous databases

GeneWikiiKIAA1683.
GenomeRNAii80726.
PROiQ9H0B3.

Gene expression databases

BgeeiENSG00000130518.
CleanExiHS_KIAA1683.
ExpressionAtlasiQ9H0B3. baseline and differential.
GenevisibleiQ9H0B3. HS.

Family and domain databases

InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00612. IQ. 6 hits.
[Graphical view]
SMARTiSM00015. IQ. 6 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS50096. IQ. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiK1683_HUMAN
AccessioniPrimary (citable) accession number: Q9H0B3
Secondary accession number(s): B4DYH2
, E9PDE0, E9PH54, Q2KHR5, Q8N4G8, Q96M14, Q9C0I0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 122 of the entry and version 1 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 19
    Human chromosome 19: 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. 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.