Reviewed,
UniProtKB/Swiss-Prot Q7Z591 (AKNA_HUMAN)
Last modified
November 3, 2009.
Version 45.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: AT-hook-containing transcription factor | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete 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 | 1439 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development. Binds to A/T-rich promoters. Ref.6 |
| Subcellular location | |
| Tissue specificity | Predominantly expressed by lymphoid tissues. Highly expressed in the spleen, lymph nodes and peripheral blood leukocytes, expressed at lower level in the thymus. Mainly expressed by germinal center B-lymphocytes, a stage in which receptor and ligand interactions are crucial for B-lymphocyte maturation. Expressed by B- and T-lymphocytes, Natural killer cells and CD1a+CD14- but not CD1a-CD14+ dendritic cells. Weakly or not expressed in fetal liver and in adult bone marrow. Ref.6 |
| Sequence similarities | Contains 1 A.T hook DNA-binding domain. |
| Sequence caution | The sequence AAK83024.1 differs from that shown. Reason: Frameshift at position 1228. The sequence AAU34192.1 differs from that shown. Reason: Frameshift at position 1227. The sequence BAC85132.1 differs from that shown. Reason: Frameshift at position 1340. The sequence BAD18725.1 differs from that shown. Reason: Frameshift at positions 820, 1017, 1340, 1387 and 1434. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | DNA-binding |
| Molecular function | Activator |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription Inferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | DNA binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q7Z591-1) Also known as: B2; D; 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: Q7Z591-2) Also known as: E; The sequence of this isoform differs from the canonical sequence as follows: 1-91: MASSETEIRW...DSESGETSGE → MLRSEWPVFP | ||||||
| Isoform 3 (identifier: Q7Z591-3) The sequence of this isoform differs from the canonical sequence as follows: 832-1439: Missing. | ||||||
| Isoform 4 (identifier: Q7Z591-4) The sequence of this isoform differs from the canonical sequence as follows: 1-1055: Missing. 1056-1074: PCGPTETIPSFLLTRAGRD → MSAGGGTRGYSPRSPGATS | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q7Z591-5) Also known as: F1; The sequence of this isoform differs from the canonical sequence as follows: 1-753: Missing. | ||||||
| Isoform 6 (identifier: Q7Z591-6) The sequence of this isoform differs from the canonical sequence as follows: 448-572: EDYHRLLTKY...TQALASQASQ → VSGTHGCGCV...GGWLGQEALG 573-1439: Missing. | ||||||
| Isoform 7 (identifier: Q7Z591-7) Also known as: A; The sequence of this isoform differs from the canonical sequence as follows: 1-119: Missing. | ||||||
| Isoform 8 (identifier: Q7Z591-8) The sequence of this isoform differs from the canonical sequence as follows: 1-540: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1439 | 1439 | AT-hook-containing transcription factor | PRO_0000289159 | |||||
Regions | |||||||||
| DNA binding | 1115 – 1123 | 9 | A.T hook Ref.6 | ||||||
| Region | 771 – 804 | 34 | PEST | ||||||
| Region | 911 – 932 | 22 | PEST | ||||||
Amino acid modifications | |||||||||
| Modified residue | 839 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 848 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 1055 | 1055 | Missing in isoform 4. | VSP_025932 | |||||
| Alternative sequence | 1 – 753 | 753 | Missing in isoform 5. | VSP_025933 | |||||
| Alternative sequence | 1 – 540 | 540 | Missing in isoform 8. | VSP_025934 | |||||
| Alternative sequence | 1 – 119 | 119 | Missing in isoform 7. | VSP_025935 | |||||
| Alternative sequence | 1 – 91 | 91 | MASSE…ETSGE → MLRSEWPVFP in isoform 2. | VSP_025936 | |||||
| Alternative sequence | 448 – 572 | 125 | EDYHR…SQASQ → VSGTHGCGCVTKAPVGLGWR LIGVGRPGVEAGWGGEAWDR AWLGWEALGRRLVGWGGLGW RLARVGSPGMEASGVGRPGV GSPGVEPGGVGRPGVEAGWG RKPWDRGWWGGEAWGGGWLG QEALG in isoform 6. | VSP_025937 | |||||
| Alternative sequence | 573 – 1439 | 867 | Missing in isoform 6. | VSP_025938 | |||||
| Alternative sequence | 832 – 1439 | 608 | Missing in isoform 3. | VSP_025939 | |||||
| Alternative sequence | 1056 – 1074 | 19 | PCGPT…RAGRD → MSAGGGTRGYSPRSPGATS in isoform 4. | VSP_025940 | |||||
| Natural variant | 624 | 1 | P → L: dbSNP rs3748176. Ref.2 Ref.3 | VAR_032586 | |||||
| Natural variant | 1097 | 1 | Q → R: dbSNP rs1265891. | VAR_032587 | |||||
| Natural variant | 1119 | 1 | R → Q: dbSNP rs3748178. Ref.3 | VAR_032588 | |||||
| Natural variant | 1303 | 1 | S → P: dbSNP rs2250242. Ref.3 Ref.5 | VAR_032589 | |||||
| Natural variant | 1327 | 1 | Y → C: dbSNP rs2787344. | VAR_032590 | |||||
Experimental info | |||||||||
| Sequence conflict | 799 | 1 | D → V in BAD18725. Ref.3 | ||||||
| Sequence conflict | 799 | 1 | D → V in BAC85132. Ref.3 | ||||||
| Sequence conflict | 816 | 1 | R → S in BAD18725. Ref.3 | ||||||
| Sequence conflict | 1037 | 1 | L → F in AAK83024. Ref.6 | ||||||
| Sequence conflict | 1103 | 1 | P → Q in BAD18725. Ref.3 | ||||||
| Sequence conflict | 1114 | 1 | A → P in BAD18725. Ref.3 | ||||||
| Sequence conflict | 1429 | 1 | Q → P in BAD18725. Ref.3 | ||||||
| Sequence conflict | 1435 – 1436 | 2 | GS → AP in BAD18725. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The human AKNA gene expresses multiple transcripts and protein isoforms as a result of alternative promoter usage, splicing, and polyadenylation." Sims-Mourtada J.C., Bruce S., McKeller M.R., Rangel R., Guzman-Rojas L., Cain K., Lopez C., Zimonjic D.B., Popescu N.C., Gordon J., Wilkinson M.F., Martinez-Valdez H. DNA Cell Biol. 24:325-338(2005) [PubMed: 15869410] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 5; 6 AND 7). |
| [2] | "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:319-327(2001) [PubMed: 11853319] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT LEU-624. Tissue: Brain. |
| [3] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 8), VARIANTS LEU-624; GLN-1119 AND PRO-1303. Tissue: Spleen. |
| [4] | "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]. |
| [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] (ISOFORMS 1 AND 4), VARIANT PRO-1303. Tissue: Eye. |
| [6] | "Regulation of CD40 and CD40 ligand by the AT-hook transcription factor AKNA." Siddiqa A., Sims-Mourtada J.C., Guzman-Rojas L., Rangel R., Guret C., Madrid-Marina V., Sun Y., Martinez-Valdez H. Nature 410:383-387(2001) [PubMed: 11268217] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 762-1395, FUNCTION, SUBCELLULAR LOCATION, DNA-BINDING, TISSUE SPECIFICITY. |
| [7] | "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-839 AND SER-848, MASS SPECTROMETRY. Tissue: Epithelium. |
Cross-references
Sequence databases | |
|---|---|
| AY703039 mRNA. Translation: AAU34186.1. AY703043 mRNA. Translation: AAU34190.1. AY703044 mRNA. Translation: AAU34191.1. AY703045 mRNA. Translation: AAU34192.1. Frameshift. AB075848 mRNA. Translation: BAB85554.1. Different initiation. AK024431 mRNA. Translation: BAB15721.1. AK074040 mRNA. Translation: BAB84866.1. Different initiation. AK131082 mRNA. Translation: BAC85132.1. Sequence problems. AK160382 mRNA. Translation: BAD18725.1. Sequence problems. AL356796 Genomic DNA. Translation: CAM23638.1. AL356796 Genomic DNA. Translation: CAI16861.1. AL356796 Genomic DNA. Translation: CAI16862.2. AL356796 Genomic DNA. Translation: CAI16863.1. BC042202 mRNA. Translation: AAH42202.1. BC055285 mRNA. Translation: AAH55285.1. AF286341 mRNA. Translation: AAK83024.1. Frameshift. | |
| IPI | IPI00291825. IPI00377187. IPI00445384. IPI00477282. IPI00657833. IPI00847273. IPI00847363. IPI00847998. |
| RefSeq | NP_110394.3. |
| UniGene | Hs.494895 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q7Z591. |
Proteomic databases | |
| PRIDE | Q7Z591. |
Genome annotation databases | |
| Ensembl | ENST00000223791; ENSP00000223791; ENSG00000106948; Homo sapiens. [Genome view] ENST00000307564; ENSP00000303769; ENSG00000106948; Homo sapiens. [Genome view] ENST00000312033; ENSP00000309222; ENSG00000106948; Homo sapiens. [Genome view] ENST00000320310; ENSP00000314538; ENSG00000106948; Homo sapiens. [Genome view] ENST00000374075; ENSP00000363188; ENSG00000106948; Homo sapiens. [Genome view] ENST00000374079; ENSP00000363192; ENSG00000106948; Homo sapiens. [Genome view] ENST00000374088; ENSP00000363201; ENSG00000106948; Homo sapiens. [Genome view] ENST00000394574; ENSP00000378075; ENSG00000106948; Homo sapiens. [Genome view] ENST00000394582; ENSP00000378083; ENSG00000106948; Homo sapiens. [Genome view] |
| GeneID | 80709. |
| KEGG | hsa:80709. |
| NMPDR | fig|9606.3.peg.31792. |
| UCSC | uc004bin.2. human. uc004bio.2. human. uc004biq.2. human. uc004biv.1. human. uc004biw.1. human. |
Organism-specific databases | |
| CTD | 80709. |
| GeneCards | GC09M116138. |
| HGNC | HGNC:24108. AKNA. |
| MIM | 605729. gene. |
| PharmGKB | PA134908332. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q7Z591. |
| OMA | GVEAGWG. |
Gene expression databases | |
| ArrayExpress | Q7Z591. |
| Bgee | Q7Z591. |
| Genevestigator | Q7Z591. |
Family and domain databases | |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 71009. |
| PMAP-CutDB | Q7Z591. |
| SOURCE | Search... |
Entry information
| Entry name | AKNA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7Z591 Secondary accession number(s): Q05BK5 Q9H7P7 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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


