Q7Z4S6 (KI21A_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 105.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Kinesin-like protein KIF21A Alternative name(s): Kinesin-like protein KIF2 Renal carcinoma antigen NY-REN-62 | ||||
| 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 | 1674 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a plus-end directed motor activity By similarity. |
| Subcellular location | Cytoplasm › cytoskeleton Probable. |
| Involvement in disease | Congenital fibrosis of extraocular muscles 1 (CFEOM1) [MIM:135700]: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. |
| Sequence similarities | Belongs to the kinesin-like protein family. Contains 1 kinesin-motor domain. Contains 7 WD repeats. |
| Sequence caution | The sequence AAD42883.1 differs from that shown. Reason: Frameshift at positions 185, 191, 380 and 405. The sequence AAH41430.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAP97680.1 differs from that shown. Reason: Frameshift at positions 185 and 191. The sequence BAA90916.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton Microtubule |
| Coding sequence diversity | Alternative splicing |
| Disease | Disease mutation |
| Domain | Coiled coil Repeat WD repeat |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Motor protein |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | microtubule-based movement Inferred from electronic annotation. Source: InterPro |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW microtubuleInferred from electronic annotation. Source: UniProtKB-KW microtubule associated complexInferred from electronic annotation. Source: InterPro |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW microtubule motor activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ARFGEF1 | Q9Y6D6 | 4 | EBI-6251716,EBI-1044254 | |
| KANK1 | Q14678 | 2 | EBI-2691397,EBI-2556221 | |
| KANK1 | Q14678-2 | 3 | EBI-2691397,EBI-6173812 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q7Z4S6-1) 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: Q7Z4S6-2) The sequence of this isoform differs from the canonical sequence as follows: 558-570: Missing. | ||||||
| Isoform 3 (identifier: Q7Z4S6-3) The sequence of this isoform differs from the canonical sequence as follows: 1260-1319: HSDSGTSEASLSPPSSPPSRPRNELNVFNRLTVSQGNTSVQQDKSDESDSSLSEVHRSSR → QSDESDSSLSEVH | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q7Z4S6-4) The sequence of this isoform differs from the canonical sequence as follows: 1315-1315: H → HS | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1674 | 1674 | Kinesin-like protein KIF21A | PRO_0000125462 | |||||
Regions | |||||||||
| Domain | 1 – 299 | 299 | Kinesin-motor | ||||||
| Repeat | 1345 – 1382 | 38 | WD 1 | ||||||
| Repeat | 1385 – 1423 | 39 | WD 2 | ||||||
| Repeat | 1449 – 1487 | 39 | WD 3 | ||||||
| Repeat | 1490 – 1532 | 43 | WD 4 | ||||||
| Repeat | 1541 – 1578 | 38 | WD 5 | ||||||
| Repeat | 1582 – 1621 | 40 | WD 6 | ||||||
| Repeat | 1624 – 1661 | 38 | WD 7 | ||||||
| Nucleotide binding | 88 – 95 | 8 | ATP By similarity | ||||||
| Coiled coil | 365 – 575 | 211 | Potential | ||||||
| Coiled coil | 931 – 1019 | 89 | Potential | ||||||
| Coiled coil | 1053 – 1083 | 31 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 80 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 87 | 1 | Phosphotyrosine By similarity | ||||||
| Modified residue | 524 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 1212 | 1 | Phosphoserine Ref.12 Ref.14 Ref.16 | ||||||
| Modified residue | 1239 | 1 | Phosphoserine Ref.12 Ref.14 Ref.16 | ||||||
| Modified residue | 1662 | 1 | Phosphoserine Ref.14 | ||||||
| Modified residue | 1664 | 1 | Phosphothreonine Ref.14 | ||||||
| Modified residue | 1673 | 1 | Phosphoserine Ref.12 Ref.14 | ||||||
Natural variations | |||||||||
| Alternative sequence | 558 – 570 | 13 | Missing in isoform 2. | VSP_010870 | |||||
| Alternative sequence | 1260 – 1319 | 60 | HSDSG…HRSSR → QSDESDSSLSEVH in isoform 3. | VSP_010871 | |||||
| Alternative sequence | 1315 | 1 | H → HS in isoform 4. | VSP_010872 | |||||
| Natural variant | 356 | 1 | M → T in CFEOM1. Ref.1 | VAR_019399 | |||||
| Natural variant | 947 | 1 | M → R in CFEOM1. Ref.1 | VAR_019400 | |||||
| Natural variant | 947 | 1 | M → T in CFEOM1. Ref.17 | VAR_027021 | |||||
| Natural variant | 947 | 1 | M → V in CFEOM1. Ref.1 | VAR_019401 | |||||
| Natural variant | 954 | 1 | R → Q in CFEOM1. Ref.1 | VAR_019402 | |||||
| Natural variant | 954 | 1 | R → W in CFEOM1. Ref.1 | VAR_019403 | |||||
| Natural variant | 1010 | 1 | I → T in CFEOM1. Ref.1 | VAR_019404 | |||||
Experimental info | |||||||||
| Sequence conflict | 596 – 597 | 2 | NN → TQ in AAP97680. Ref.2 | ||||||
| Sequence conflict | 596 – 597 | 2 | NN → TQ in AAD42883. Ref.6 | ||||||
| Sequence conflict | 653 | 1 | E → D in AAP97680. Ref.2 | ||||||
| Sequence conflict | 801 – 802 | 2 | DQ → AP in AAP97680. Ref.2 | ||||||
| Sequence conflict | 813 | 1 | E → G in AAP97680. Ref.2 | ||||||
| Sequence conflict | 826 | 1 | K → Q in AAP97680. Ref.2 | ||||||
| Sequence conflict | 1503 | 1 | I → T in CAD97863. Ref.10 | ||||||
| Sequence conflict | 1511 | 1 | I → T in CAD97863. Ref.10 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)." Yamada K., Andrews C., Chan W.M., McKeown C.A., Magli A., De Berardinis T., Loewenstein A., Lazar M., O'Keefe M., Letson R., London A., Ruttum M., Matsumoto N., Saito N., Morris L., Monte M.D., Johnson R.H., Uyama E. Engle E.C.Nat. Genet. 35:318-321(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS CFEOM1 THR-356; ARG-947; VAL-947; GLN-954; TRP-954 AND THR-1010. |
| [2] | Zan Q., Guo J.H., Yu L. Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [3] | "Multiplex amplification and cloning of 5'-ends of cDNA by ligase-free recombination: preparation of full-length cDNA clones encoding motor proteins." Yamakawa H., Kikuno R.F., Nagase T., Ohara O. Submitted (JAN-2007) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [4] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "Antigens recognized by autologous antibody in patients with renal-cell carcinoma." Scanlan M.J., Gordan J.D., Williamson B., Stockert E., Bander N.H., Jongeneel C.V., Gure A.O., Jaeger D., Jaeger E., Knuth A., Chen Y.-T., Old L.J. Int. J. Cancer 83:456-464(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-597 (ISOFORM 2), IDENTIFICATION AS A RENAL CANCER ANTIGEN. |
| [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 1-586 (ISOFORM 2). Tissue: Colon. |
| [8] | "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] OF 1-543 (ISOFORMS 1/2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1243-1674 (ISOFORM 4). Tissue: Adrenal cortex and Brain. |
| [9] | "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 5-1674 (ISOFORM 2). Tissue: Brain. |
| [10] | "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 654-1674 (ISOFORM 3). Tissue: Liver. |
| [11] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [12] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1212; SER-1239 AND SER-1673, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [13] | "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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell. |
| [14] | "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 SER-524; SER-1212; SER-1239; SER-1662; THR-1664 AND SER-1673, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [15] | "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]. |
| [16] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1212 AND SER-1239, MASS SPECTROMETRY. |
| [17] | "A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon." Yamada K., Hunter D.G., Andrews C., Engle E.C. Arch. Ophthalmol. 123:1254-1259(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CFEOM1 THR-947. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY368076 mRNA. Translation: AAR04774.1. AF450487 mRNA. Translation: AAP97680.1. Frameshift. AB290166 mRNA. Translation: BAG06720.1. AC084373 Genomic DNA. No translation available. AC090668 Genomic DNA. No translation available. AC121334 Genomic DNA. No translation available. AF155117 mRNA. Translation: AAD42883.1. Sequence problems. AK000059 mRNA. Translation: BAA90916.1. Sequence problems. CH471111 Genomic DNA. Translation: EAW57803.1. BC041430 mRNA. Translation: AAH41430.1. Sequence problems. BC047572 mRNA. Translation: AAH47572.1. AB051495 mRNA. Translation: BAB21799.2. BX537855 mRNA. Translation: CAD97863.1. |
| IPI | IPI00425404. IPI00425405. IPI00425407. IPI00425409. |
| RefSeq | NP_001166934.1. NM_001173463.1. NP_001166935.1. NM_001173464.1. NP_001166936.1. NM_001173465.1. NP_060111.2. NM_017641.3. |
| UniGene | Hs.374201. |
3D structure databases | |
| ProteinModelPortal | Q7Z4S6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-56253N. |
| IntAct | Q7Z4S6. 3 interactions. |
PTM databases | |
| PhosphoSite | Q7Z4S6. |
Polymorphism databases | |
| DMDM | 50400977. |
Proteomic databases | |
| PaxDb | Q7Z4S6. |
| PeptideAtlas | Q7Z4S6. |
| PRIDE | Q7Z4S6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000361418; ENSP00000354878; ENSG00000139116. ENST00000361961; ENSP00000354851; ENSG00000139116. |
| GeneID | 55605. |
| KEGG | hsa:55605. |
| UCSC | uc001rlw.3. human. uc001rlx.3. human. uc001rly.3. human. |
Organism-specific databases | |
| CTD | 55605. |
| GeneCards | GC12M039687. |
| HGNC | HGNC:19349. KIF21A. |
| HPA | CAB022079. |
| MIM | 135700. phenotype. 608283. gene. |
| neXtProt | NX_Q7Z4S6. |
| Orphanet | 45358. Congenital fibrosis of extraocular muscles. |
| PharmGKB | PA134882934. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG2319. |
| HOVERGEN | HBG052247. |
| KO | K10395. |
Gene expression databases | |
| ArrayExpress | Q7Z4S6. |
| Bgee | Q7Z4S6. |
| CleanEx | HS_KIF21A. |
| Genevestigator | Q7Z4S6. |
| GermOnline | ENSG00000139116. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.130.10.10. 1 hit. 3.40.850.10. 1 hit. |
| InterPro | IPR019821. Kinesin_motor_CS. IPR001752. Kinesin_motor_dom. IPR009053. Prefoldin. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view] |
| Pfam | PF00225. Kinesin. 1 hit. PF00400. WD40. 4 hits. [Graphical view] |
| PRINTS | PR00380. KINESINHEAVY. |
| SMART | SM00129. KISc. 1 hit. SM00320. WD40. 7 hits. [Graphical view] |
| SUPFAM | SSF46579. Prefoldin. 1 hit. SSF50978. WD40_like. 1 hit. |
| PROSITE | PS00411. KINESIN_MOTOR_DOMAIN1. 1 hit. PS50067. KINESIN_MOTOR_DOMAIN2. 1 hit. PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 4 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | KIF21A. human. |
| GenomeRNAi | 55605. |
| NextBio | 60157. |
| SOURCE | Search... |
Entry information
| Entry name | KI21A_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7Z4S6 Secondary accession number(s): A8MX28 Q9Y590 | ||||||||
| 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 12 Human chromosome 12: 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
