Reviewed,
UniProtKB/Swiss-Prot Q8WYP5 (AHTF1_HUMAN)
Last modified
July 22, 2008.
Version 46.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: AT-hook-containing transcription factor 1 Alternative name(s): Embryonic large molecule derived from yolk sac | ||||||
| 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 | 2275 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Probable transcription factor which may play a specific role in hematopoietic tissues. May play a role in early development being critical for the survival of inner cells of the blastocyst By similarity. |
| Subcellular location | Nucleus matrix. CytoplasmBy similarity. |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. |
| Sequence similarities | Contains 1 A.T hook DNA-binding domain. |
| Sequence caution | AAN65622.1 sequence differs from that shown. Reason: Frameshift at several positions. |
Ontologies
Keywords | |
|---|---|
| Biological process | Transcription |
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | DNA-binding |
| Molecular function | Developmental protein |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Cellular component | nuclear matrix Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | |||||
| Isoform 1 (identifier: Q8WYP5-1) 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: Q8WYP5-2) The sequence of this isoform differs from the canonical sequence as follows: 1-7: MAAERRC → MDSLAGLSPREAAGVLSLSCVGVCSTCAWAWPHGSM |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | ||||
Molecule processing | ||||||||
|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2275 | 2275 | AT-hook-containing transcription factor 1 | |||||
Regions | ||||||||
| DNA binding | 1955 – 1967 | 13 | A.T hook | |||||
| Region | 10 – 990 | 981 | Necessary for cytoplasmic localization By similarity | |||||
| Region | 1158 – 2275 | 1118 | Necessary for nuclear localization By similarity | |||||
| Region | 1455 – 1707 | 253 | Mediates transcriptional activity By similarity | |||||
Amino acid modifications | ||||||||
| Modified residue | 537 | 1 | Phosphoserine | |||||
| Modified residue | 1096 | 1 | Phosphoserine | |||||
| Modified residue | 1225 | 1 | Phosphoserine | |||||
| Modified residue | 1227 | 1 | Phosphoserine | |||||
| Modified residue | 1231 | 1 | Phosphoserine | |||||
| Modified residue | 1241 | 1 | Phosphoserine | |||||
| Modified residue | 1292 | 1 | Phosphoserine | |||||
| Modified residue | 1304 | 1 | Phosphoserine | |||||
| Modified residue | 1522 | 1 | Phosphoserine | |||||
| Modified residue | 1550 | 1 | Phosphoserine | |||||
| Modified residue | 1817 | 1 | Phosphothreonine | |||||
| Modified residue | 1953 | 1 | Phosphoserine | |||||
| Modified residue | 2005 | 1 | Phosphoserine | |||||
| Modified residue | 2221 | 1 | Phosphoserine | |||||
| Modified residue | 2231 | 1 | Phosphoserine | |||||
| Modified residue | 2235 | 1 | Phosphoserine | |||||
Natural variations | ||||||||
| Alternative sequence | 1 – 7 | 7 | MAAERRC → MDSLAGLSPREAAGVLSLSC VGVCSTCAWAWPHGSM in isoform 2. | |||||
| Natural variant | 883 | 1 | N → S: dbSNP rs2642990. | |||||
| Natural variant | 2194 | 1 | L → V: dbSNP rs12410563. | |||||
Experimental info | ||||||||
| Sequence conflict | 177 | 1 | V → I in BAB78516. Ref.1 | |||||
| Sequence conflict | 216 | 1 | Q → E in BAB78516. Ref.1 | |||||
| Sequence conflict | 246 | 1 | V → A in BAB78516. Ref.1 | |||||
| Sequence conflict | 288 | 1 | P → R in BAB78516. Ref.1 | |||||
| Sequence conflict | 412 | 1 | D → G in AAN65622. Ref.2 | |||||
| Sequence conflict | 655 | 1 | T → A in BAB78516. Ref.1 | |||||
| Sequence conflict | 752 | 1 | D → G in AAN65622. Ref.2 | |||||
| Sequence conflict | 762 | 1 | A → G in AAN65622. Ref.2 | |||||
| Sequence conflict | 1143 | 1 | F → S in AAN65622. Ref.2 | |||||
| Sequence conflict | 1216 | 1 | L → P in BAB78516. Ref.1 | |||||
| Sequence conflict | 1279 | 1 | L → P in BAB78516. Ref.1 | |||||
| Sequence conflict | 1746 | 1 | S → F in CAB45737. Ref.3 | |||||
| Sequence conflict | 1806 | 1 | S → F in BAB78516. Ref.1 | |||||
| Sequence conflict | 1839 | 1 | E → G in AAN65622. Ref.2 | |||||
| Sequence conflict | 2137 | 1 | K → E in AAN65622. Ref.2 | |||||
| Sequence conflict | 2196 | 1 | K → E in AAH12307. Ref.5 | |||||
| Sequence conflict | 2222 | 1 | P → L in BAB78516. Ref.1 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a novel transcription factor, ELYS, expressed predominantly in mouse foetal haematopoietic tissues." Kimura N., Takizawa M., Okita K., Natori O., Igarashi K., Ueno M., Nakashima K., Nobuhisa I., Taga T. Genes Cells 7:435-446(2002) [PubMed: 11952839] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Fetal liver. |
| [2] | "Cloning of a cDNA that provides partial correction of mitomycin C sensitivity in Fanconi anemia FA-D1 cells." Lightfoot J., Alon N., Buchwald M. Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Lymphoblast. |
| [3] | The German cDNA consortium Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1531-2275 (ISOFORMS 1/2). Tissue: Testis. |
| [4] | Liu B., Zhao B., Wang X.Y., Liu Y.Q., Sheng H., Qin B.M., Zhang Q., Zheng W.Y., Xu H.S., Liu B.H., Lu H., Gong Q., Hui R.T. Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1753-2275 (ISOFORMS 1/2). Tissue: Heart. |
| [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2037-2275 (ISOFORMS 1/2). Tissue: Retinoblastoma. |
| [6] | "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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1241; SER-1292; SER-1522; SER-1550; SER-2005; SER-2231 AND SER-2235, MASS SPECTROMETRY. Tissue: Epithelium. |
| [7] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2231 AND SER-2235, MASS SPECTROMETRY. Tissue: Epithelium. |
| [8] | "Phosphoproteome analysis of the human mitotic spindle." Nousiainen M., Sillje H.H.W., Sauer G., Nigg E.A., Koerner R. Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006) [PubMed: 16565220] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-537; SER-1096; SER-1241; SER-1292; SER-1522; SER-1550; SER-2221 AND SER-2231, MASS SPECTROMETRY. Tissue: Epithelium. |
| [9] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1292 AND SER-1304, MASS SPECTROMETRY. |
| [10] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-537; SER-1225; SER-1227; SER-1231; THR-1817 AND SER-1953, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AB059277 mRNA. Translation: BAB78516.1. Different initiation. AY157619 mRNA. Translation: AAN65622.1. Frameshift. AL080144 mRNA. Translation: CAB45737.1. AF173978 mRNA. Translation: AAQ13621.1. Different initiation. BC012307 mRNA. Translation: AAH12307.1. | |
| PIR | T12528. |
| RefSeq | NP_056261.3. |
| UniGene | Hs.300887 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8WYP5. |
PTM databases | |
| PhosphoSite | Q8WYP5. |
Genome annotation databases | |
| Ensembl | ENSG00000153207. Homo sapiens. [Contig view] |
| GeneID | 25909. |
| KEGG | hsa:25909. |
Organism-specific databases | |
| H-InvDB | HIX0002544. |
| HGNC | HGNC:24618. AHCTF1. |
| MIM | 610853. gene. |
| PharmGKB | PA142672631. |
| GenAtlas | Search... |
| GeneCards | Search... |
| GeneLynx | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8WYP5. |
Gene expression databases | |
| ArrayExpress | Q8WYP5. |
| CleanEx | HS_AHCTF1. |
| GermOnline | ENSG00000153207. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000637. AT_hook_DNA_bd. [Graphical view] |
| Pfam | PF02178. AT_hook. 1 hit. [Graphical view] |
| SMART | SM00384. AT_hook. 1 hit. [Graphical view] |
| ProDom | Q8WYP5. [Graphical view] [Entries sharing at least one domain] |
| BLOCKS | Search... |
Other Resources | |
| SOURCE | Search... |
| ProtoNet | Search... |
Entry information
| Entry name | AHTF1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WYP5 Secondary accession number(s): Q7Z4E3 Q9Y4Q6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |

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