Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9H0B3 (K1683_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Uncharacterized protein KIAA1683
Gene names
Name:KIAA1683
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1180 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 6 IQ domains.

Sequence caution

The sequence BAB21774.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmitochondrion

Inferred from direct assay. Source: LIFEdb

nucleus

Inferred from direct assay PubMed 21630459. Source: UniProt

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H0B3-1)

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.
Isoform 2 (identifier: Q9H0B3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     440-1053: Missing.
     1148-1180: RGHHTRSCLKNTEALLGPADPSASSRHMHWPGI → HLGPWLPAVGTSWEALMALWV
Isoform 3 (identifier: Q9H0B3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-736: Missing.
     737-872: TCLTKTQSRG...GQAVPCQEDT → MAPSSRWDAM...KASLNSTILQ
Isoform 4 (identifier: Q9H0B3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     872-872: T → TVGSLLASLC...LGPVRPQTSK
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9H0B3-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11801180Uncharacterized protein KIAA1683
PRO_0000050801

Regions

Domain103 – 13230IQ 1
Domain926 – 95530IQ 2
Domain949 – 97830IQ 3
Domain972 – 100130IQ 4
Domain1113 – 114230IQ 5
Domain1136 – 116530IQ 6
Compositional bias336 – 42489Thr-rich

Natural variations

Alternative sequence1 – 736736Missing in isoform 3.
VSP_015473
Alternative sequence1 – 4646Missing in isoform 5.
VSP_045713
Alternative sequence440 – 1053614Missing in isoform 2.
VSP_015474
Alternative sequence737 – 872136TCLTK…CQEDT → MAPSSRWDAMGPKNSYRSVH GRIVPELLESSVARVRPLQY VQRQPSQASARSGANPTHRP SAEVRPVIRTGEMTHSSVIP PLAPGVRRVSLGYESSPSGS LPPLFNQESPWRRQDSYSPQ NPAVSHKASLNSTILQ in isoform 3.
VSP_015475
Alternative sequence8721T → TVGSLLASLCAEVAGVLASQ EDLRTLLAKALSQGEVWAAL NQALSKEVLGATVTKALPQS MLSMALVKALSWSELRLTLS RALSRGELRAELTKVMQGKL AEVLSKALTEEEWVALSQAL CQGELGALLSQSWCRVALRT GTILPKAASKSTGSGVTKTP ALVKVACRRSPSAAWGPSLG PVRPQTSK in isoform 4.
VSP_045714
Alternative sequence1148 – 118033RGHHT…HWPGI → HLGPWLPAVGTSWEALMALW V in isoform 2.
VSP_015476
Natural variant441L → P. Ref.2 Ref.4
Corresponds to variant rs1469023 [ dbSNP | Ensembl ].
VAR_023418
Natural variant501A → V.
Corresponds to variant rs3810431 [ dbSNP | Ensembl ].
VAR_049520
Natural variant1971C → R. Ref.4
Corresponds to variant rs12609001 [ dbSNP | Ensembl ].
VAR_049521
Natural variant2351L → V. Ref.2 Ref.4
Corresponds to variant rs8103906 [ dbSNP | Ensembl ].
VAR_023419
Natural variant2851S → T. Ref.2 Ref.4
Corresponds to variant rs8104533 [ dbSNP | Ensembl ].
VAR_023420
Natural variant3591M → T. Ref.2 Ref.4
Corresponds to variant rs3746186 [ dbSNP | Ensembl ].
VAR_023421
Natural variant5241T → A.
Corresponds to variant rs12462974 [ dbSNP | Ensembl ].
VAR_049522
Natural variant6101T → P. Ref.2 Ref.4
Corresponds to variant rs2277922 [ dbSNP | Ensembl ].
VAR_049523
Natural variant6141A → V.
Corresponds to variant rs16982285 [ dbSNP | Ensembl ].
VAR_049524
Natural variant6481Y → F. Ref.2 Ref.4
Corresponds to variant rs8110972 [ dbSNP | Ensembl ].
VAR_034042
Natural variant8231P → R. Ref.4
Corresponds to variant rs12608777 [ dbSNP | Ensembl ].
VAR_034043
Natural variant8351P → L. Ref.4
Corresponds to variant rs2277921 [ dbSNP | Ensembl ].
VAR_049525
Natural variant9081P → H. Ref.2 Ref.4 Ref.5
Corresponds to variant rs999813 [ dbSNP | Ensembl ].
VAR_023422

Experimental info

Sequence conflict3811M → V in BAB71500. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: A81A2824C2794AC3

FASTA1,180127,693
        10         20         30         40         50         60 
MTLQGRADLS GNQGNAAGRL ATVHEPVVTQ WAVHPPAPAH PSLLDKMEKA PPQPQHEGLK 

        70         80         90        100        110        120 
SKEHLPQQPA EGKTASRRVP RLRAVVESQA FKNILVDEMD MMHARAATLI QANWRGYWLR 

       130        140        150        160        170        180 
QKLISQMMAA KAIQEAWRRF NKRHILHSSK SLVKKTRAEE GDIPYHAPQQ VRFQHPEENR 

       190        200        210        220        230        240 
LLSPPIMVNK ETQFPSCDNL VLCRPQSSPL LQPPAAQGTP EPCVQGPHAA RVRGLAFLPH 

       250        260        270        280        290        300 
QTVTIRFPCP VSLDAKCQPC LLTRTIRSTC LVHIEGDSVK TKRVSARTNK ARAPETPLSR 

       310        320        330        340        350        360 
RYDQAVTRPS RAQTQGPVKA ETPKAPFQIC PGPMITKTLL QTYPVVSVTL PQTYPASTMT 

       370        380        390        400        410        420 
TTPPKTSPVP KVTIIKTPAQ MYPGPTVTKT APHTCPMPTM TKIQVHPTAS RTGTPRQTCP 

       430        440        450        460        470        480 
ATITAKNRPQ VSLLASIMKS LPQVCPGPAM AKTPPQMHPV TTPAKNPLQT CLSATMSKTS 

       490        500        510        520        530        540 
SQRSPVGVTK PSPQTRLPAM ITKTPAQLRS VATILKTLCL ASPTVANVKA PPQVAVAAGT 

       550        560        570        580        590        600 
PNTSGSIHEN PPKAKATVNV KQAAKVVKAS SPSYLAEGKI RCLAQPHPGT GVPRAAAELP 

       610        620        630        640        650        660 
LEAEKIKTGT QKQAKTDMAF KTSVAVEMAG APSWTKVAEE GDKPPHVYVP VDMAVTLPRG 

       670        680        690        700        710        720 
QLAAPLTNAS SQRHPPCLSQ RPLAAPLTKA SSQGHLPTEL TKTPSLAHLD TCLSKMHSQT 

       730        740        750        760        770        780 
HLATGAVKVQ SQAPLATCLT KTQSRGQPIT DITTCLIPAH QAADLSSNTH SQVLLTGSKV 

       790        800        810        820        830        840 
SNHACQRLGG LSAPPWAKPE DRQTQPQPHG HVPGKTTQGG PCPAACEVQG MLVPPMAPTG 

       850        860        870        880        890        900 
HSTCNVESWG DNGATRAQPS MPGQAVPCQE DTGPADAGVV GGQSWNRAWE PARGAASWDT 

       910        920        930        940        950        960 
WRNKAVVPPR RSGEPMVSMQ AAEEIRILAV ITIQAGVRGY LARRRIRLWH RGAMVIQATW 

       970        980        990       1000       1010       1020 
RGYRVRRNLA HLCRATTTIQ SAWRGYSTRR DQARHWQMLH PVTWVELGSR AGVMSDRSWF 

      1030       1040       1050       1060       1070       1080 
QDGRARTVSD HRCFQSCQAH ACSVCHSLSS RIGSPPSVVM LVGSSPRTCH TCGRTQPTRV 

      1090       1100       1110       1120       1130       1140 
VQGMGQGTEG PGAVSWASAY QLAALSPRQP HRQDKAATAI QSAWRGFKIR QQMRQQQMAA 

      1150       1160       1170       1180 
KIVQATWRGH HTRSCLKNTE ALLGPADPSA SSRHMHWPGI 

« Hide

Isoform 2 [UniParc].

Checksum: 40386EC8A196A156
Show »

FASTA55460,963
Isoform 3 [UniParc].

Checksum: 1F32C281B6FCEEEB
Show »

FASTA44449,193
Isoform 4 [UniParc].

Checksum: DA1B0ADE754F8578
Show »

FASTA1,367147,266
Isoform 5 [UniParc].

Checksum: 9DD6A52B63131CD9
Show »

FASTA1,134122,901

References

[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5), VARIANTS PRO-44; VAL-235; THR-285; THR-359; PRO-610; PHE-648 AND HIS-908.
Tissue: Testis.
[3]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANTS PRO-44; ARG-197; VAL-235; THR-285; THR-359; PRO-610; PHE-648; ARG-823; LEU-835 AND HIS-908.
Tissue: Brain and Skin.
[5]"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 873-1180, VARIANT HIS-908.
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32958.1. [Q9H0B3-1]
CCDS46017.1. [Q9H0B3-4]
CCDS46018.1. [Q9H0B3-5]
RefSeqNP_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]
UniGeneHs.732366.

3D structure databases

ProteinModelPortalQ9H0B3.
SMRQ9H0B3. Positions 1105-1151.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123276. 5 interactions.
IntActQ9H0B3. 4 interactions.
MINTMINT-1439991.
STRING9606.ENSP00000376213.

PTM databases

PhosphoSiteQ9H0B3.

Polymorphism databases

DMDM73920083.

Proteomic databases

MaxQBQ9H0B3.
PaxDbQ9H0B3.
PRIDEQ9H0B3.

Protocols and materials databases

DNASU80726.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000392413; ENSP00000376213; ENSG00000130518. [Q9H0B3-4]
ENST00000600328; ENSP00000470780; ENSG00000130518. [Q9H0B3-1]
ENST00000600359; ENSP00000472912; ENSG00000130518. [Q9H0B3-5]
GeneID80726.
KEGGhsa:80726.
UCSCuc002nin.2. human. [Q9H0B3-1]

Organism-specific databases

CTD80726.
GeneCardsGC19M018367.
HGNCHGNC:29350. KIAA1683.
HPAHPA042409.
neXtProtNX_Q9H0B3.
PharmGKBPA134952902.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG29346.
HOGENOMHOG000113175.
HOVERGENHBG079541.
OMASQALCQG.
OrthoDBEOG7V49XJ.
PhylomeDBQ9H0B3.
TreeFamTF337595.

Gene expression databases

BgeeQ9H0B3.
CleanExHS_KIAA1683.
GenevestigatorQ9H0B3.

Family and domain databases

InterProIPR000048. IQ_motif_EF-hand-BS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF00612. IQ. 6 hits.
[Graphical view]
SMARTSM00015. IQ. 6 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS50096. IQ. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKIAA1683.
GenomeRNAi80726.
NextBio71038.

Entry information

Entry nameK1683_HUMAN
AccessionPrimary (citable) accession number: Q9H0B3
Secondary accession number(s): B4DYH2 expand/collapse secondary AC list , E9PDE0, E9PH54, Q2KHR5, Q8N4G8, Q96M14, Q9C0I0
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM