Reviewed,
UniProtKB/Swiss-Prot Q8IWZ3 (ANKH1_HUMAN)
Last modified
November 25, 2008.
Version 46.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Ankyrin repeat and KH domain-containing protein 1 Alternative name(s): Multiple ankyrin repeats single KH domain Short name=hMASK HIV-1 Vpr-binding ankyrin repeat protein | ||||||
| Gene names |
| ||||||
| 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 | 2542 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases. |
| Subunit structure | Interacts with PTPN11. Isoform 2 interacts with VPR. |
| Subcellular location | |
| Tissue specificity | Ubiquitous with high expression in cervix, spleen and brain. Expressed in hematopoietic cells with increased expression in leukemia cells. Isoform 2 is highly expressed in spleen with almost no expression in muscle and brain. |
| Sequence similarities | Belongs to the mask family. Contains 25 ANK repeats. Contains 1 KH domain. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | ANK repeat Coiled coil Repeat |
| Ligand | RNA-binding |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | RNA binding Inferred from electronic annotation. Source: InterPro protein bindingInferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IWZ3-1) 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: Q8IWZ3-2) Also known as: VBARP-L; The sequence of this isoform differs from the canonical sequence as follows: 595-627: EHESEGGRTPLMKAARAGHLCTVQFLISKGANV → DKQEDMKTILEGIDPAKHQVRVAFDACKLLRKE 628-2542: Missing. | ||||||
| Isoform 3 (identifier: Q8IWZ3-3) The sequence of this isoform differs from the canonical sequence as follows: 154-164: Missing. 595-627: EHESEGGRTPLMKAARAGHLCTVQFLISKGANV → DKQEDMKTILEGIDPAKHQVRVAFDACKLLRKE 628-2542: Missing. | ||||||
| Isoform 4 (identifier: Q8IWZ3-4) The sequence of this isoform differs from the canonical sequence as follows: 2342-2343: SS → SCDSPIPSVSSGSSSPLSA 2524-2542: IWPGTWAPHIGNMHLKYVN → VKWA | ||||||
| Isoform 5 (identifier: Q8IWZ3-5) The sequence of this isoform differs from the canonical sequence as follows: 559-581: ANVHATTATGDTALTYACENGHT → QAGGHEDYFGGHRSGQASGEGGL 582-2542: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2542 | 2542 | Ankyrin repeat and KH domain-containing protein 1 | PRO_0000306326 | |||||
Regions | |||||||||
| Repeat | 204 – 233 | 30 | ANK 1 | ||||||
| Repeat | 237 – 266 | 30 | ANK 2 | ||||||
| Repeat | 271 – 300 | 30 | ANK 3 | ||||||
| Repeat | 304 – 333 | 30 | ANK 4 | ||||||
| Repeat | 337 – 366 | 30 | ANK 5 | ||||||
| Repeat | 371 – 400 | 30 | ANK 6 | ||||||
| Repeat | 404 – 433 | 30 | ANK 7 | ||||||
| Repeat | 437 – 466 | 30 | ANK 8 | ||||||
| Repeat | 470 – 499 | 30 | ANK 9 | ||||||
| Repeat | 504 – 533 | 30 | ANK 10 | ||||||
| Repeat | 534 – 563 | 30 | ANK 11 | ||||||
| Repeat | 567 – 596 | 30 | ANK 12 | ||||||
| Repeat | 600 – 629 | 30 | ANK 13 | ||||||
| Repeat | 634 – 663 | 30 | ANK 14 | ||||||
| Repeat | 667 – 696 | 30 | ANK 15 | ||||||
| Repeat | 1054 – 1083 | 30 | ANK 16 | ||||||
| Repeat | 1087 – 1116 | 30 | ANK 17 | ||||||
| Repeat | 1121 – 1150 | 30 | ANK 18 | ||||||
| Repeat | 1154 – 1183 | 30 | ANK 19 | ||||||
| Repeat | 1189 – 1218 | 30 | ANK 20 | ||||||
| Repeat | 1223 – 1252 | 30 | ANK 21 | ||||||
| Repeat | 1256 – 1285 | 30 | ANK 22 | ||||||
| Repeat | 1291 – 1320 | 30 | ANK 23 | ||||||
| Repeat | 1324 – 1353 | 30 | ANK 24 | ||||||
| Repeat | 1357 – 1386 | 30 | ANK 25 | ||||||
| Domain | 1695 – 1759 | 65 | KH | ||||||
| Coiled coil | 775 – 852 | 78 | Potential | ||||||
| Coiled coil | 1415 – 1485 | 71 | Potential | ||||||
| Compositional bias | 6 – 94 | 89 | Gly-rich | ||||||
| Compositional bias | 1977 – 2100 | 124 | Ser-rich | ||||||
| Compositional bias | 2291 – 2299 | 9 | Poly-Ser | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1653 | 1 | Phosphothreonine | ||||||
Natural variations | |||||||||
| Alternative sequence | 154 – 164 | 11 | Missing in isoform 3. | VSP_028452 | |||||
| Alternative sequence | 559 – 581 | 23 | ANVHA…ENGHT → QAGGHEDYFGGHRSGQASGE GGL in isoform 5. | VSP_028453 | |||||
| Alternative sequence | 582 – 2542 | 1961 | Missing in isoform 5. | VSP_028454 | |||||
| Alternative sequence | 595 – 627 | 33 | EHESE…KGANV → DKQEDMKTILEGIDPAKHQV RVAFDACKLLRKE in isoform 2 and isoform 3. | VSP_028455 | |||||
| Alternative sequence | 628 – 2542 | 1915 | Missing in isoform 2 and isoform 3. | VSP_028456 | |||||
| Alternative sequence | 2342 – 2343 | 2 | SS → SCDSPIPSVSSGSSSPLSA in isoform 4. | VSP_028457 | |||||
| Alternative sequence | 2524 – 2542 | 19 | IWPGT…LKYVN → VKWA in isoform 4. | VSP_028458 | |||||
| Natural variant | 175 | 1 | L → M: dbSNP rs17850570. | VAR_035291 | |||||
| Natural variant | 228 | 1 | G → C: dbSNP rs17850572. | VAR_035292 | |||||
| Natural variant | 1760 | 1 | N → S: dbSNP rs3752704. | VAR_035293 | |||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK." Poulin F., Brueschke A., Sonenberg N. J. Biol. Chem. 278:52290-52297(2003) [PubMed: 14557257] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [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: 15498874] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [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]. |
| [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] (ISOFORMS 2; 3 AND 5), VARIANTS MET-175 AND CYS-228. Tissue: Lung. |
| [5] | "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. |

Clusters with