Q9H0B3 (K1683_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 92.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Uncharacterized protein KIAA1683 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1180 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | mitochondrion Inferred from direct assay. Source: LIFEdb |
| 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1180 | 1180 | Uncharacterized protein KIAA1683 | PRO_0000050801 | |||||
Regions | |||||||||
| Domain | 103 – 132 | 30 | IQ 1 | ||||||
| Domain | 926 – 955 | 30 | IQ 2 | ||||||
| Domain | 949 – 978 | 30 | IQ 3 | ||||||
| Domain | 972 – 1001 | 30 | IQ 4 | ||||||
| Domain | 1113 – 1142 | 30 | IQ 5 | ||||||
| Domain | 1136 – 1165 | 30 | IQ 6 | ||||||
| Compositional bias | 336 – 424 | 89 | Thr-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 736 | 736 | Missing in isoform 3. | VSP_015473 | |||||
| Alternative sequence | 1 – 46 | 46 | Missing in isoform 5. | VSP_045713 | |||||
| Alternative sequence | 440 – 1053 | 614 | Missing in isoform 2. | VSP_015474 | |||||
| Alternative sequence | 737 – 872 | 136 | TCLTK…CQEDT → MAPSSRWDAMGPKNSYRSVH GRIVPELLESSVARVRPLQY VQRQPSQASARSGANPTHRP SAEVRPVIRTGEMTHSSVIP PLAPGVRRVSLGYESSPSGS LPPLFNQESPWRRQDSYSPQ NPAVSHKASLNSTILQ in isoform 3. | VSP_015475 | |||||
| Alternative sequence | 872 | 1 | T → TVGSLLASLCAEVAGVLASQ EDLRTLLAKALSQGEVWAAL NQALSKEVLGATVTKALPQS MLSMALVKALSWSELRLTLS RALSRGELRAELTKVMQGKL AEVLSKALTEEEWVALSQAL CQGELGALLSQSWCRVALRT GTILPKAASKSTGSGVTKTP ALVKVACRRSPSAAWGPSLG PVRPQTSK in isoform 4. | VSP_045714 | |||||
| Alternative sequence | 1148 – 1180 | 33 | RGHHT…HWPGI → HLGPWLPAVGTSWEALMALW V in isoform 2. | VSP_015476 | |||||
| Natural variant | 44 | 1 | L → P. Ref.2 Ref.4 Corresponds to variant rs1469023 [ dbSNP | Ensembl ]. | VAR_023418 | |||||
| Natural variant | 50 | 1 | A → V. Corresponds to variant rs3810431 [ dbSNP | Ensembl ]. | VAR_049520 | |||||
| Natural variant | 197 | 1 | C → R. Ref.4 Corresponds to variant rs12609001 [ dbSNP | Ensembl ]. | VAR_049521 | |||||
| Natural variant | 235 | 1 | L → V. Ref.2 Ref.4 Corresponds to variant rs8103906 [ dbSNP | Ensembl ]. | VAR_023419 | |||||
| Natural variant | 285 | 1 | S → T. Ref.2 Ref.4 Corresponds to variant rs8104533 [ dbSNP | Ensembl ]. | VAR_023420 | |||||
| Natural variant | 359 | 1 | M → T. Ref.2 Ref.4 Corresponds to variant rs3746186 [ dbSNP | Ensembl ]. | VAR_023421 | |||||
| Natural variant | 524 | 1 | T → A. Corresponds to variant rs12462974 [ dbSNP | Ensembl ]. | VAR_049522 | |||||
| Natural variant | 610 | 1 | T → P. Ref.2 Ref.4 Corresponds to variant rs2277922 [ dbSNP | Ensembl ]. | VAR_049523 | |||||
| Natural variant | 614 | 1 | A → V. Corresponds to variant rs16982285 [ dbSNP | Ensembl ]. | VAR_049524 | |||||
| Natural variant | 648 | 1 | Y → F. Ref.2 Ref.4 Corresponds to variant rs8110972 [ dbSNP | Ensembl ]. | VAR_034042 | |||||
| Natural variant | 823 | 1 | P → R. Ref.4 Corresponds to variant rs12608777 [ dbSNP | Ensembl ]. | VAR_034043 | |||||
| Natural variant | 835 | 1 | P → L. Ref.4 Corresponds to variant rs2277921 [ dbSNP | Ensembl ]. | VAR_049525 | |||||
| Natural variant | 908 | 1 | P → H. Ref.2 Ref.4 Ref.5 Corresponds to variant rs999813 [ dbSNP | Ensembl ]. | VAR_023422 | |||||
Experimental info | |||||||||
| Sequence conflict | 381 | 1 | M → V in BAB71500. Ref.2 | ||||||
Sequences
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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. 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. 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. 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. |
| IPI | IPI00031282. IPI00384249. IPI00874228. IPI00923466. IPI01010920. |
| RefSeq | NP_001138776.1. NM_001145304.1. NP_001138777.1. NM_001145305.1. NP_079525.1. NM_025249.3. |
| UniGene | Hs.732366. |
3D structure databases | |
| ProteinModelPortal | Q9H0B3. |
| SMR | Q9H0B3. Positions 100-151, 931-967, 1111-1157. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H0B3. 4 interactions. |
| MINT | MINT-1439991. |
| STRING | 9606.ENSP00000376213. |
PTM databases | |
| PhosphoSite | Q9H0B3. |
Polymorphism databases | |
| DMDM | 73920083. |
Proteomic databases | |
| PaxDb | Q9H0B3. |
| PRIDE | Q9H0B3. |
Protocols and materials databases | |
| DNASU | 80726. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000359737; ENSP00000352774; ENSG00000130518. ENST00000392413; ENSP00000376213; ENSG00000130518. ENST00000427634; ENSP00000404501; ENSG00000130518. ENST00000600328; ENSP00000470780; ENSG00000130518. ENST00000600359; ENSP00000472912; ENSG00000130518. |
| GeneID | 80726. |
| KEGG | hsa:80726. |
| UCSC | uc002nin.2. human. uc010ebn.2. human. |
Organism-specific databases | |
| CTD | 80726. |
| GeneCards | GC19M018367. |
| HGNC | HGNC:29350. KIAA1683. |
| HPA | HPA042409. |
| neXtProt | NX_Q9H0B3. |
| PharmGKB | PA134952902. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG29346. |
| HOGENOM | HOG000113175. |
| HOVERGEN | HBG079541. |
| PhylomeDB | Q9H0B3. |
Gene expression databases | |
| ArrayExpress | Q9H0B3. |
| Bgee | Q9H0B3. |
| CleanEx | HS_KIAA1683. |
| Genevestigator | Q9H0B3. |
| GermOnline | ENSG00000130518. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000048. IQ_motif_EF-hand-BS. IPR027417. P-loop_NTPase. [Graphical view] |
| Pfam | PF00612. IQ. 6 hits. [Graphical view] |
| SMART | SM00015. IQ. 6 hits. [Graphical view] |
| SUPFAM | SSF52540. SSF52540. 3 hits. |
| PROSITE | PS50096. IQ. 6 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 80726. |
| NextBio | 71038. |
Entry information
| Entry name | K1683_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H0B3 Secondary accession number(s): B4DYH2 Q9C0I0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with
