Q12979 (ABR_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 115.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Active breakpoint cluster region-related protein | ||
| 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 | 859 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. |
| Tissue specificity | Highly enriched in the brain. Much weaker expression in heart, lung and muscle. |
| Sequence similarities | Contains 1 C2 domain. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Contains 1 Rho-GAP domain. |
| Sequence caution | The sequence AAC37518.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Long (identifier: Q12979-1) 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 Short (identifier: Q12979-2) The sequence of this isoform differs from the canonical sequence as follows: 1-82: MEPLSHRGLP...PTPPEGLAPG → MEEEEEAIGL...SGSPFLVAVK | ||||||
| Isoform 3 (identifier: Q12979-3) The sequence of this isoform differs from the canonical sequence as follows: 1-48: MEPLSHRGLP...GPPEGSETMP → MTDVLPQPDC...RVRNKLLRNK 49-597: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q12979-4) The sequence of this isoform differs from the canonical sequence as follows: 1-46: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 859 | 859 | Active breakpoint cluster region-related protein | PRO_0000080902 | |||||
Regions | |||||||||
| Domain | 91 – 284 | 194 | DH | ||||||
| Domain | 301 – 459 | 159 | PH | ||||||
| Domain | 463 – 595 | 133 | C2 | ||||||
| Domain | 647 – 845 | 199 | Rho-GAP | ||||||
| Compositional bias | 417 – 420 | 4 | Poly-Leu | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 82 | 82 | MEPLS…GLAPG → MEEEEEAIGLLDKVLEDEDV FLLEECELGTPTSPGSGSPF LVAVK in isoform Short. | VSP_001815 | |||||
| Alternative sequence | 1 – 48 | 48 | MEPLS…SETMP → MTDVLPQPDCSPKAGREPLA LEESGSKRPPNTGARLWGRV RNKLLRNK in isoform 3. | VSP_046029 | |||||
| Alternative sequence | 1 – 46 | 46 | Missing in isoform 4. | VSP_046148 | |||||
| Alternative sequence | 49 – 597 | 549 | Missing in isoform 3. | VSP_046030 | |||||
| Natural variant | 517 | 1 | K → R. Ref.2 Corresponds to variant rs34169260 [ dbSNP | Ensembl ]. | VAR_057186 | |||||
Experimental info | |||||||||
| Sequence conflict | 67 | 1 | G → R in AAC50063. Ref.1 | ||||||
| Sequence conflict | 483 | 1 | R → K in BAG54051. Ref.2 | ||||||
| Sequence conflict | 625 | 1 | K → R in BAH13263. Ref.2 | ||||||
| Sequence conflict | 657 – 660 | 4 | RSKV → VQGA in AAC37519. Ref.3 | ||||||
| Sequence conflict | 761 | 1 | L → V in AAC37519. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange proteins and GTPase-activating proteins." Tan E.-C., Leung T., Manser E., Lim L. J. Biol. Chem. 268:27291-27298(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). Tissue: Hippocampus. |
| [2] | "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] (ISOFORMS 3 AND 4), VARIANT ARG-517. Tissue: Cerebellum and Placenta. |
| [3] | "Human ABR encodes a protein with GAPrac activity and homology to the DBL nucleotide exchange factor domain." Heisterkamp N., Kaartinen V., van Soest S., Bokoch G.M., Groffen J. J. Biol. Chem. 268:16903-16906(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING. Tissue: Fibroblast. |
| [4] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "ABR, an active BCR-related gene." Heisterkamp N., Morris C., Groffen J. Nucleic Acids Res. 17:8821-8831(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 436-597. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U01147 mRNA. Translation: AAC50063.1. L19704 Genomic DNA. Translation: AAC37519.1. L19705 Genomic DNA. Translation: AAC37518.1. Different initiation. AK124547 mRNA. Translation: BAG54051.1. AK300336 mRNA. Translation: BAH13263.1. AC015884 Genomic DNA. No translation available. AC016292 Genomic DNA. No translation available. AC144836 Genomic DNA. No translation available. CH471108 Genomic DNA. Translation: EAW90631.1. CH471108 Genomic DNA. Translation: EAW90633.1. CH471108 Genomic DNA. Translation: EAW90634.1. CH471108 Genomic DNA. Translation: EAW90635.1. |
| IPI | IPI00030389. IPI00298955. IPI00922743. IPI00930680. |
| PIR | A47485. A49307. |
| RefSeq | NP_001083.2. NM_001092.4. NP_001153218.1. NM_001159746.2. NP_001243776.1. NM_001256847.1. NP_068781.2. NM_021962.3. |
| UniGene | Hs.159306. |
3D structure databases | |
| ProteinModelPortal | Q12979. |
| SMR | Q12979. Positions 102-348, 425-460, 660-805. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q12979. 2 interactions. |
| MINT | MINT-7240931. |
| STRING | 9606.ENSP00000303909. |
PTM databases | |
| PhosphoSite | Q12979. |
Polymorphism databases | |
| DMDM | 5915668. |
Proteomic databases | |
| PaxDb | Q12979. |
| PRIDE | Q12979. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000291107; ENSP00000291107; ENSG00000159842. ENST00000302538; ENSP00000303909; ENSG00000159842. ENST00000543210; ENSP00000445198; ENSG00000159842. ENST00000544583; ENSP00000442048; ENSG00000159842. ENST00000574437; ENSP00000461565; ENSG00000159842. |
| GeneID | 29. |
| KEGG | hsa:29. |
| UCSC | uc002fsg.3. human. |
Organism-specific databases | |
| CTD | 29. |
| GeneCards | GC17M000907. |
| HGNC | HGNC:81. ABR. |
| HPA | HPA054824. |
| MIM | 600365. gene. |
| neXtProt | NX_Q12979. |
| PharmGKB | PA24417. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG267747. |
| HOGENOM | HOG000006779. |
| HOVERGEN | HBG004165. |
| InParanoid | Q12979. |
| OMA | WPFLFLV. |
| OrthoDB | EOG476JZJ. |
| PhylomeDB | Q12979. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. |
Gene expression databases | |
| ArrayExpress | Q12979. |
| Bgee | Q12979. |
| CleanEx | HS_ABR. |
| Genevestigator | Q12979. |
| GermOnline | ENSG00000159842. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.555.10. 1 hit. 1.20.900.10. 1 hit. 2.30.29.30. 2 hits. |
| InterPro | IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR018029. C2_membr_targeting. IPR000219. DH-domain. IPR001331. GDS_CDC24_CS. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR008936. Rho_GTPase_activation_prot. IPR000198. RhoGAP_dom. [Graphical view] |
| Pfam | PF00168. C2. 1 hit. PF00169. PH. 1 hit. PF00620. RhoGAP. 1 hit. PF00621. RhoGEF. 1 hit. [Graphical view] |
| SMART | SM00239. C2. 1 hit. SM00233. PH. 1 hit. SM00324. RhoGAP. 1 hit. SM00325. RhoGEF. 1 hit. [Graphical view] |
| SUPFAM | SSF49562. C2_CaLB. 1 hit. SSF48065. DH-domain. 1 hit. SSF48350. Rho_GAP. 1 hit. |
| PROSITE | PS50004. C2. 1 hit. PS00741. DH_1. 1 hit. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. PS50238. RHOGAP. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ABR. human. |
| GenomeRNAi | 29. |
| NextBio | 101. |
| SOURCE | Search... |
Entry information
| Entry name | ABR_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q12979 Secondary accession number(s): B3KW89 Q13694 | ||||||||
| 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 17 Human chromosome 17: 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
