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Q9H0B3

- K1683_HUMAN

UniProt

Q9H0B3 - K1683_HUMAN

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Protein

Uncharacterized protein KIAA1683

Gene
KIAA1683
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein KIAA1683
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:29350. KIAA1683.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrion Source: LIFEdb
  2. nucleus Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134952902.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11801180Uncharacterized protein KIAA1683PRO_0000050801Add
BLAST

Proteomic databases

MaxQBiQ9H0B3.
PaxDbiQ9H0B3.
PRIDEiQ9H0B3.

PTM databases

PhosphoSiteiQ9H0B3.

Expressioni

Gene expression databases

BgeeiQ9H0B3.
CleanExiHS_KIAA1683.
GenevestigatoriQ9H0B3.

Organism-specific databases

HPAiHPA042409.

Interactioni

Protein-protein interaction databases

BioGridi123276. 5 interactions.
IntActiQ9H0B3. 4 interactions.
MINTiMINT-1439991.
STRINGi9606.ENSP00000376213.

Structurei

3D structure databases

ProteinModelPortaliQ9H0B3.
SMRiQ9H0B3. Positions 1105-1151.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini103 – 13230IQ 1Add
BLAST
Domaini926 – 95530IQ 2Add
BLAST
Domaini949 – 97830IQ 3Add
BLAST
Domaini972 – 100130IQ 4Add
BLAST
Domaini1113 – 114230IQ 5Add
BLAST
Domaini1136 – 116530IQ 6Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi336 – 42489Thr-richAdd
BLAST

Sequence similaritiesi

Contains 6 IQ domains.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG29346.
HOGENOMiHOG000113175.
HOVERGENiHBG079541.
OMAiSQALCQG.
OrthoDBiEOG7V49XJ.
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. Align

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

MTLQGRADLS GNQGNAAGRL ATVHEPVVTQ WAVHPPAPAH PSLLDKMEKA     50
PPQPQHEGLK SKEHLPQQPA EGKTASRRVP RLRAVVESQA FKNILVDEMD 100
MMHARAATLI QANWRGYWLR QKLISQMMAA KAIQEAWRRF NKRHILHSSK 150
SLVKKTRAEE GDIPYHAPQQ VRFQHPEENR LLSPPIMVNK ETQFPSCDNL 200
VLCRPQSSPL LQPPAAQGTP EPCVQGPHAA RVRGLAFLPH QTVTIRFPCP 250
VSLDAKCQPC LLTRTIRSTC LVHIEGDSVK TKRVSARTNK ARAPETPLSR 300
RYDQAVTRPS RAQTQGPVKA ETPKAPFQIC PGPMITKTLL QTYPVVSVTL 350
PQTYPASTMT TTPPKTSPVP KVTIIKTPAQ MYPGPTVTKT APHTCPMPTM 400
TKIQVHPTAS RTGTPRQTCP ATITAKNRPQ VSLLASIMKS LPQVCPGPAM 450
AKTPPQMHPV TTPAKNPLQT CLSATMSKTS SQRSPVGVTK PSPQTRLPAM 500
ITKTPAQLRS VATILKTLCL ASPTVANVKA PPQVAVAAGT PNTSGSIHEN 550
PPKAKATVNV KQAAKVVKAS SPSYLAEGKI RCLAQPHPGT GVPRAAAELP 600
LEAEKIKTGT QKQAKTDMAF KTSVAVEMAG APSWTKVAEE GDKPPHVYVP 650
VDMAVTLPRG QLAAPLTNAS SQRHPPCLSQ RPLAAPLTKA SSQGHLPTEL 700
TKTPSLAHLD TCLSKMHSQT HLATGAVKVQ SQAPLATCLT KTQSRGQPIT 750
DITTCLIPAH QAADLSSNTH SQVLLTGSKV SNHACQRLGG LSAPPWAKPE 800
DRQTQPQPHG HVPGKTTQGG PCPAACEVQG MLVPPMAPTG HSTCNVESWG 850
DNGATRAQPS MPGQAVPCQE DTGPADAGVV GGQSWNRAWE PARGAASWDT 900
WRNKAVVPPR RSGEPMVSMQ AAEEIRILAV ITIQAGVRGY LARRRIRLWH 950
RGAMVIQATW RGYRVRRNLA HLCRATTTIQ SAWRGYSTRR DQARHWQMLH 1000
PVTWVELGSR AGVMSDRSWF QDGRARTVSD HRCFQSCQAH ACSVCHSLSS 1050
RIGSPPSVVM LVGSSPRTCH TCGRTQPTRV VQGMGQGTEG PGAVSWASAY 1100
QLAALSPRQP HRQDKAATAI QSAWRGFKIR QQMRQQQMAA KIVQATWRGH 1150
HTRSCLKNTE ALLGPADPSA SSRHMHWPGI 1180
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441L → P.2 Publications
Corresponds to variant rs1469023 [ dbSNP | Ensembl ].
VAR_023418
Natural varianti50 – 501A → V.
Corresponds to variant rs3810431 [ dbSNP | Ensembl ].
VAR_049520
Natural varianti197 – 1971C → R.1 Publication
Corresponds to variant rs12609001 [ dbSNP | Ensembl ].
VAR_049521
Natural varianti235 – 2351L → V.2 Publications
Corresponds to variant rs8103906 [ dbSNP | Ensembl ].
VAR_023419
Natural varianti285 – 2851S → T.2 Publications
Corresponds to variant rs8104533 [ dbSNP | Ensembl ].
VAR_023420
Natural varianti359 – 3591M → T.2 Publications
Corresponds to variant rs3746186 [ dbSNP | Ensembl ].
VAR_023421
Natural varianti524 – 5241T → A.
Corresponds to variant rs12462974 [ dbSNP | Ensembl ].
VAR_049522
Natural varianti610 – 6101T → P.2 Publications
Corresponds to variant rs2277922 [ dbSNP | Ensembl ].
VAR_049523
Natural varianti614 – 6141A → V.
Corresponds to variant rs16982285 [ dbSNP | Ensembl ].
VAR_049524
Natural varianti648 – 6481Y → F.2 Publications
Corresponds to variant rs8110972 [ dbSNP | Ensembl ].
VAR_034042
Natural varianti823 – 8231P → R.1 Publication
Corresponds to variant rs12608777 [ dbSNP | Ensembl ].
VAR_034043
Natural varianti835 – 8351P → L.1 Publication
Corresponds to variant rs2277921 [ dbSNP | Ensembl ].
VAR_049525
Natural varianti908 – 9081P → H.3 Publications
Corresponds to variant rs999813 [ dbSNP | Ensembl ].
VAR_023422

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 736736Missing in isoform 3. VSP_015473Add
BLAST
Alternative sequencei1 – 4646Missing in isoform 5. VSP_045713Add
BLAST
Alternative sequencei440 – 1053614Missing in isoform 2. VSP_015474Add
BLAST
Alternative sequencei737 – 872136TCLTK…CQEDT → MAPSSRWDAMGPKNSYRSVH GRIVPELLESSVARVRPLQY VQRQPSQASARSGANPTHRP SAEVRPVIRTGEMTHSSVIP PLAPGVRRVSLGYESSPSGS LPPLFNQESPWRRQDSYSPQ NPAVSHKASLNSTILQ in isoform 3. VSP_015475Add
BLAST
Alternative sequencei872 – 8721T → TVGSLLASLCAEVAGVLASQ EDLRTLLAKALSQGEVWAAL NQALSKEVLGATVTKALPQS MLSMALVKALSWSELRLTLS RALSRGELRAELTKVMQGKL AEVLSKALTEEEWVALSQAL CQGELGALLSQSWCRVALRT GTILPKAASKSTGSGVTKTP ALVKVACRRSPSAAWGPSLG PVRPQTSK in isoform 4. VSP_045714
Alternative sequencei1148 – 118033RGHHT…HWPGI → HLGPWLPAVGTSWEALMALW V in isoform 2. VSP_015476Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti381 – 3811M → V in BAB71500. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human. [Q9H0B3-1]

Polymorphism databases

DMDMi73920083.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS32958.1. [Q9H0B3-1 ]
CCDS46017.1. [Q9H0B3-4 ]
CCDS46018.1. [Q9H0B3-5 ]
RefSeqi NP_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 ]
UniGenei Hs.732366.

3D structure databases

ProteinModelPortali Q9H0B3.
SMRi Q9H0B3. Positions 1105-1151.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123276. 5 interactions.
IntActi Q9H0B3. 4 interactions.
MINTi MINT-1439991.
STRINGi 9606.ENSP00000376213.

PTM databases

PhosphoSitei Q9H0B3.

Polymorphism databases

DMDMi 73920083.

Proteomic databases

MaxQBi Q9H0B3.
PaxDbi Q9H0B3.
PRIDEi Q9H0B3.

Protocols and materials databases

DNASUi 80726.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000392413 ; ENSP00000376213 ; ENSG00000130518 . [Q9H0B3-4 ]
ENST00000600328 ; ENSP00000470780 ; ENSG00000130518 . [Q9H0B3-1 ]
ENST00000600359 ; ENSP00000472912 ; ENSG00000130518 . [Q9H0B3-5 ]
GeneIDi 80726.
KEGGi hsa:80726.
UCSCi uc002nin.2. human. [Q9H0B3-1 ]

Organism-specific databases

CTDi 80726.
GeneCardsi GC19M018367.
HGNCi HGNC:29350. KIAA1683.
HPAi HPA042409.
neXtProti NX_Q9H0B3.
PharmGKBi PA134952902.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG29346.
HOGENOMi HOG000113175.
HOVERGENi HBG079541.
OMAi SQALCQG.
OrthoDBi EOG7V49XJ.
PhylomeDBi Q9H0B3.
TreeFami TF337595.

Miscellaneous databases

GeneWikii KIAA1683.
GenomeRNAii 80726.
NextBioi 71038.

Gene expression databases

Bgeei Q9H0B3.
CleanExi HS_KIAA1683.
Genevestigatori Q9H0B3.

Family and domain databases

InterProi IPR000048. IQ_motif_EF-hand-BS.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF00612. IQ. 6 hits.
[Graphical view ]
SMARTi SM00015. IQ. 6 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS50096. IQ. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. 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.
    , 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.
    , 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.

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: July 9, 2014
This is version 101 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

External Data

Dasty 3

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