Q14678 (KANK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
December 14, 2011.
Version 95.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: KN motif and ankyrin repeat domain-containing protein 1 Alternative name(s): Ankyrin repeat domain-containing protein 15 Kidney ankyrin repeat-containing protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1352 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Potential tumor suppressor for renal cell carcinoma. Ref.5 |
| Subcellular location | |
| Involvement in disease | Defects in KANK1 are the cause of cerebral palsy spastic quadriplegic type 2 (CPSQ2) [MIM:612900]. A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly. Ref.6 |
| Sequence similarities | Contains 5 ANK repeats. |
| Sequence caution | The sequence BAA11489.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Polymorphism |
| Disease | Tumor suppressor |
| Domain | ANK repeat Coiled coil Repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | negative regulation of actin filament polymerization Inferred from direct assay. Source: MGI |
| Cellular component | cytoplasm Inferred from direct assay. Source: HPA |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1352 | 1352 | KN motif and ankyrin repeat domain-containing protein 1 | PRO_0000066911 | |||||
Regions | |||||||||
| Repeat | 1161 – 1191 | 31 | ANK 1 | ||||||
| Repeat | 1195 – 1228 | 34 | ANK 2 | ||||||
| Repeat | 1233 – 1262 | 30 | ANK 3 | ||||||
| Repeat | 1266 – 1298 | 33 | ANK 4 | ||||||
| Repeat | 1300 – 1329 | 30 | ANK 5 | ||||||
| Coiled coil | 258 – 316 | 59 | Potential | ||||||
| Coiled coil | 361 – 395 | 35 | Potential | ||||||
| Coiled coil | 446 – 500 | 55 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 325 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Natural variant | 206 | 1 | N → K. Ref.4 Corresponds to variant rs17857145 [ dbSNP | Ensembl ]. | VAR_026212 | |||||
| Natural variant | 210 | 1 | H → Q. Corresponds to variant rs28374506 [ dbSNP | Ensembl ]. | VAR_048298 | |||||
| Natural variant | 321 | 1 | K → R. Corresponds to variant rs17857159 [ dbSNP | Ensembl ]. | VAR_048299 | |||||
| Natural variant | 432 | 1 | E → Q. Ref.3 Ref.4 Corresponds to variant rs4465020 [ dbSNP | Ensembl ]. | VAR_026213 | |||||
| Natural variant | 464 | 1 | S → A. Ref.1 Corresponds to variant rs912174 [ dbSNP | Ensembl ]. | VAR_016697 | |||||
| Natural variant | 664 | 1 | A → V. Corresponds to variant rs3824421 [ dbSNP | Ensembl ]. | VAR_048300 | |||||
| Natural variant | 667 | 1 | R → H. Corresponds to variant rs3824420 [ dbSNP | Ensembl ]. | VAR_048301 | |||||
| Natural variant | 901 | 1 | N → S. Corresponds to variant rs12352313 [ dbSNP | Ensembl ]. | VAR_048302 | |||||
| Natural variant | 1055 | 1 | I → T. Corresponds to variant rs34832656 [ dbSNP | Ensembl ]. | VAR_048303 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1." Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N. DNA Res. 3:17-24(1996) [PubMed: 8724849] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-464. Tissue: Bone marrow. |
| [2] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | 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], VARIANT GLN-432. |
| [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LYS-206 AND GLN-432. Tissue: Testis. |
| [5] | "A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma." Sarkar S., Roy B.C., Hatano N., Aoyagi T., Gohji K., Kiyama R. J. Biol. Chem. 277:36585-36591(2002) [PubMed: 12133830] [Abstract] Cited for: PUTATIVE FUNCTION, SUBCELLULAR LOCATION. |
| [6] | "Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy." Lerer I., Sagi M., Meiner V., Cohen T., Zlotogora J., Abeliovich D. Hum. Mol. Genet. 14:3911-3920(2005) [PubMed: 16301218] [Abstract] Cited for: INVOLVEMENT IN CPSQ2. |
| [7] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-325, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | D79994 mRNA. Translation: BAA11489.2. Different initiation. AL136979 Genomic DNA. Translation: CAH70388.1. CH471071 Genomic DNA. Translation: EAW58821.1. CH471071 Genomic DNA. Translation: EAW58822.1. BC037495 mRNA. Translation: AAH37495.1. |
| IPI | IPI00339320. |
| RefSeq | NP_055973.2. NM_015158.2. |
| UniGene | Hs.306764. |
3D structure databases | |
| ProteinModelPortal | Q14678. |
| SMR | Q14678. Positions 1158-1324. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q14678. 1 interaction. |
| STRING | Q14678. |
PTM databases | |
| PhosphoSite | Q14678. |
Polymorphism databases | |
| DMDM | 73920184. |
Proteomic databases | |
| PRIDE | Q14678. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000382297; ENSP00000371734; ENSG00000107104. ENST00000382303; ENSP00000371740; ENSG00000107104. |
| GeneID | 23189. |
| KEGG | hsa:23189. |
| UCSC | uc003zgl.1. human. |
Organism-specific databases | |
| CTD | 23189. |
| GeneCards | GC09P000461. |
| HGNC | HGNC:19309. KANK1. |
| HPA | HPA005539. |
| MIM | 607704. gene. 612900. phenotype. |
| neXtProt | NX_Q14678. |
| Orphanet | 91498. Familial congenital palsy of trochlear nerve. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG446458. |
| HOVERGEN | HBG050511. |
| InParanoid | Q14678. |
| OMA | ESVEQST. |
| OrthoDB | EOG49P9ZW. |
Gene expression databases | |
| ArrayExpress | Q14678. |
| Bgee | Q14678. |
| CleanEx | HS_KANK1. |
| Genevestigator | Q14678. |
| GermOnline | ENSG00000107104. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR021939. KN_motif. [Graphical view] |
| Gene3D | G3DSA:1.25.40.20. ANK. 1 hit. |
| Pfam | PF00023. Ank. 3 hits. PF12075. KN_motif. 1 hit. [Graphical view] |
| SMART | SM00248. ANK. 6 hits. [Graphical view] |
| SUPFAM | SSF48403. ANK. 1 hit. |
| PROSITE | PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 44663. |
| SOURCE | Search... |
Entry information
| Entry name | KANK1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q14678 Secondary accession number(s): D3DRH3 Q8WX74 | ||||||||
| 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 9 Human chromosome 9: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with