Q8IZA0 (K319L_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 76.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Dyslexia-associated protein KIAA0319-like protein | ||||||
| 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 | 1049 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Possible role in axon guidance through interaction with RTN4R. Ref.13 |
| Subunit structure | Interacts with RTN4R. Ref.13 |
| Subcellular location | Cytoplasmic granule membrane; Multi-pass membrane protein Potential Ref.13. |
| Tissue specificity | Expressed in cortical neurons in the brain cortex (at protein level). Ref.13 |
| Post-translational modification | N-glycosylated. Ref.13 |
| Sequence similarities | Contains 1 MANSC domain. Contains 5 PKD domains. |
| Sequence caution | The sequence AAD05028.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence AAL55781.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB14874.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB47466.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part. The sequence CAI22688.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI23123.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Transmembrane Transmembrane helix |
| PTM | Glycoprotein Phosphoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | cytoplasmic vesicle part Inferred from direct assay Ref.13. Source: UniProtKB integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| RTN4R | Q9BZR6 | 4 | EBI-5240269,EBI-5240240 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IZA0-1) 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: Q8IZA0-2) The sequence of this isoform differs from the canonical sequence as follows: 989-1049: IKQKGLLLSSSLMHSESELDSDDAIFTWPDREKGKLLHGQNGSVPNGQTPLKARSPREEIL → RGPGCQSF | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8IZA0-3) The sequence of this isoform differs from the canonical sequence as follows: 1-563: Missing. 638-638: Q → HFFFCR | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1049 | 1049 | Dyslexia-associated protein KIAA0319-like protein | PRO_0000329064 | |||||||||||||||||||||
Regions | |||||||||||||||||||||||||
| Topological domain | 1 – 29 | 29 | Cytoplasmic Potential | ||||||||||||||||||||||
| Transmembrane | 30 – 50 | 21 | Helical; Potential | ||||||||||||||||||||||
| Topological domain | 51 – 932 | 882 | Extracellular Potential | ||||||||||||||||||||||
| Transmembrane | 933 – 953 | 21 | Helical; Potential | ||||||||||||||||||||||
| Topological domain | 954 – 1049 | 96 | Cytoplasmic Potential | ||||||||||||||||||||||
| Domain | 49 – 127 | 79 | MANSC | ||||||||||||||||||||||
| Domain | 312 – 401 | 90 | PKD 1 | ||||||||||||||||||||||
| Domain | 409 – 498 | 90 | PKD 2 | ||||||||||||||||||||||
| Domain | 504 – 594 | 91 | PKD 3 | ||||||||||||||||||||||
| Domain | 600 – 688 | 89 | PKD 4 | ||||||||||||||||||||||
| Domain | 694 – 785 | 92 | PKD 5 | ||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||
| Modified residue | 974 | 1 | Phosphothreonine By similarity | ||||||||||||||||||||||
| Modified residue | 978 | 1 | Phosphoserine By similarity | ||||||||||||||||||||||
| Modified residue | 1037 | 1 | Phosphothreonine Ref.11 | ||||||||||||||||||||||
| Glycosylation | 247 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||||||
| Glycosylation | 395 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||||||
| Glycosylation | 472 | 1 | N-linked (GlcNAc...) Ref.10 | ||||||||||||||||||||||
| Glycosylation | 487 | 1 | N-linked (GlcNAc...) Potential | ||||||||||||||||||||||
| Glycosylation | 525 | 1 | N-linked (GlcNAc...) Ref.10 | ||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||
| Alternative sequence | 1 – 563 | 563 | Missing in isoform 3. | VSP_032953 | |||||||||||||||||||||
| Alternative sequence | 638 | 1 | Q → HFFFCR in isoform 3. | VSP_032954 | |||||||||||||||||||||
| Alternative sequence | 989 – 1049 | 61 | IKQKG…REEIL → RGPGCQSF in isoform 2. | VSP_032955 | |||||||||||||||||||||
| Natural variant | 243 | 1 | G → D. Corresponds to variant rs1635712 [ dbSNP | Ensembl ]. | VAR_042644 | |||||||||||||||||||||
| Natural variant | 837 | 1 | Q → H. Corresponds to variant rs1361040 [ dbSNP | Ensembl ]. | VAR_042645 | |||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||
| Sequence conflict | 37 | 1 | C → Y in AAN61054. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 37 | 1 | C → Y in AAG24389. Ref.2 | ||||||||||||||||||||||
| Sequence conflict | 86 | 1 | W → L in AAH14530. Ref.5 | ||||||||||||||||||||||
| Sequence conflict | 203 | 1 | H → Y in AAG24389. Ref.2 | ||||||||||||||||||||||
| Sequence conflict | 520 | 1 | I → T in AAG24389. Ref.2 | ||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||
| Beta strand | 607 – 610 | 4 | |||||||||||||||||||||||
| Beta strand | 615 – 619 | 5 | |||||||||||||||||||||||
| Beta strand | 625 – 627 | 3 | |||||||||||||||||||||||
| Beta strand | 634 – 639 | 6 | |||||||||||||||||||||||
| Beta strand | 644 – 647 | 4 | |||||||||||||||||||||||
| Beta strand | 650 – 657 | 8 | |||||||||||||||||||||||
| Beta strand | 660 – 671 | 12 | |||||||||||||||||||||||
| Beta strand | 676 – 686 | 11 | |||||||||||||||||||||||
Sequences
| ||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | Hao D., Hooi S. Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. Gu J.Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] (ISOFORM 1). Tissue: Kidney, Lung, Muscle and Placenta. |
| [6] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 304-1049 (ISOFORM 1). Tissue: Testis. |
| [7] | "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] OF 328-1049 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Amygdala. |
| [8] | "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 359-1049 (ISOFORM 2). Tissue: Brain. |
| [9] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION. |
| [10] | "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-472 AND ASN-525, MASS SPECTROMETRY. Tissue: Liver. |
| [11] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1037, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [13] | "Dyslexia-associated kiaa0319-like protein interacts with axon guidance receptor nogo receptor 1." Poon M.W., Tsang W.H., Chan S.O., Li H.M., Ng H.K., Waye M.M. Cell. Mol. Neurobiol. 31:27-35(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH RTN4R, GLYCOSYLATION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [14] | "Solution structure of the PKD domain from KIAA1837 protein." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 600-688. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AY163234 mRNA. Translation: AAN61054.1. AF275679 mRNA. Translation: AAG24389.2. AF289597 mRNA. Translation: AAL55781.1. Different initiation. AL356362, AC004865, AL445211 Genomic DNA. Translation: CAI22688.1. Sequence problems. AL445211, AC004865, AL356362 Genomic DNA. Translation: CAI23123.1. Sequence problems. AC004865 Genomic DNA. Translation: AAD05028.1. Sequence problems. CH471059 Genomic DNA. Translation: EAX07415.1. CH471059 Genomic DNA. Translation: EAX07416.1. BC001858 mRNA. Translation: AAH01858.2. BC007645 mRNA. Translation: AAH07645.1. BC014530 mRNA. Translation: AAH14530.1. BC031672 mRNA. Translation: AAH31672.2. AL834315 mRNA. Translation: CAD38985.1. AK024287 mRNA. Translation: BAB14874.1. Different initiation. AK090878 mRNA. Translation: BAC03536.1. AB058740 mRNA. Translation: BAB47466.1. Sequence problems. | ||||||||||||
| IPI | IPI00472754. IPI00844309. IPI00936149. | ||||||||||||
| RefSeq | NP_079150.3. NM_024874.4. | ||||||||||||
| UniGene | Hs.456507. Hs.683078. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q8IZA0. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q8IZA0. 1 interaction. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 187609609. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q8IZA0. | ||||||||||||
| PRIDE | Q8IZA0. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000325722; ENSP00000318406; ENSG00000142687. | ||||||||||||
| GeneID | 79932. | ||||||||||||
| KEGG | hsa:79932. | ||||||||||||
| UCSC | uc001byw.3. human. uc001byx.3. human. uc010ohv.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 79932. | ||||||||||||
| GeneCards | GC01M035899. | ||||||||||||
| HGNC | HGNC:30071. KIAA0319L. | ||||||||||||
| HPA | HPA011169. | ||||||||||||
| MIM | 613535. gene. | ||||||||||||
| neXtProt | NX_Q8IZA0. | ||||||||||||
| PharmGKB | PA142671625. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | COG3291. | ||||||||||||
| HOVERGEN | HBG057130. | ||||||||||||
| OMA | DSNCEWS. | ||||||||||||
| OrthoDB | EOG4B8JC7. | ||||||||||||
| PhylomeDB | Q8IZA0. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q8IZA0. | ||||||||||||
| Bgee | Q8IZA0. | ||||||||||||
| CleanEx | HS_KIAA0319L. | ||||||||||||
| Genevestigator | Q8IZA0. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 2.60.40.670. 2 hits. | ||||||||||||
| InterPro | IPR003961. Fibronectin_type3. IPR013980. MANSC. IPR022409. PKD/Chitinase_dom. IPR002859. PKD/REJ-like. IPR000601. PKD_dom. [Graphical view] | ||||||||||||
| Pfam | PF02010. REJ. 2 hits. [Graphical view] | ||||||||||||
| SMART | SM00060. FN3. 4 hits. SM00089. PKD. 5 hits. [Graphical view] | ||||||||||||
| SUPFAM | SSF49299. PKD. 4 hits. | ||||||||||||
| PROSITE | PS50986. MANSC. 1 hit. PS50093. PKD. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| ChiTaRS | KIAA0319L. human. | ||||||||||||
| EvolutionaryTrace | Q8IZA0. | ||||||||||||
| GenomeRNAi | 79932. | ||||||||||||
| NextBio | 69860. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | K319L_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IZA0 Secondary accession number(s): B1AN13 Q9H7V0 | ||||||||
| Entry history |
| ||||||||
| 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 1 Human chromosome 1: 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
