Q96QB1 (RHG07_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 98.
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: Rho GTPase-activating protein 7 Alternative name(s): Deleted in liver cancer 1 protein Short name=DLC-1 HP protein Rho-type GTPase-activating protein 7 START domain-containing protein 12 Short name=StARD12 StAR-related lipid transfer protein 12 | ||||
| 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 | 1528 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Functions as a GTPase-activating protein specific for Rho and an activator of PLCD1 in vivo and induces morphological changes and detachment through cytoskeletal reorganization By similarity. |
| Subcellular location | Cytoplasm Potential. |
| Tissue specificity | Highest level of expression in the spleen, with rather lower levels in prostate, testis, ovary, small intestine and colon, but none in the thymus. |
| Sequence similarities | Contains 1 Rho-GAP domain. Contains 1 SAM (sterile alpha motif) domain. Contains 1 START domain. |
| Sequence caution | The sequence AAB81637.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB21814.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 2 (identifier: Q96QB1-2) 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 1 (identifier: Q96QB1-1) The sequence of this isoform differs from the canonical sequence as follows: 1-437: Missing. 438-450: TAIQGISEKEKAE → MCRKKPDTMILTQ | ||||||
| Isoform 3 (identifier: Q96QB1-3) The sequence of this isoform differs from the canonical sequence as follows: 450-498: EIEAKEACDW...DFLDRDAIEA → AVKSVKLEVD...FHVAGEENIT 499-1528: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||
Molecule processing | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1528 | 1528 | Rho GTPase-activating protein 7 | PRO_0000056707 | ||||||||||||||||
Regions | ||||||||||||||||||||
| Domain | 448 – 515 | 68 | SAM | |||||||||||||||||
| Domain | 1078 – 1284 | 207 | Rho-GAP | |||||||||||||||||
| Domain | 1314 – 1521 | 208 | START | |||||||||||||||||
| Compositional bias | 741 – 747 | 7 | Poly-Ser | |||||||||||||||||
| Compositional bias | 868 – 874 | 7 | Poly-Ser | |||||||||||||||||
Amino acid modifications | ||||||||||||||||||||
| Modified residue | 523 | 1 | Phosphoserine By similarity | |||||||||||||||||
| Modified residue | 526 | 1 | Phosphoserine By similarity | |||||||||||||||||
| Modified residue | 741 | 1 | Phosphoserine By similarity | |||||||||||||||||
| Modified residue | 742 | 1 | Phosphoserine By similarity | |||||||||||||||||
| Modified residue | 747 | 1 | Phosphoserine By similarity | |||||||||||||||||
| Modified residue | 749 | 1 | Phosphothreonine By similarity | |||||||||||||||||
| Modified residue | 750 | 1 | Phosphoserine By similarity | |||||||||||||||||
| Modified residue | 754 | 1 | Phosphoserine By similarity | |||||||||||||||||
| Modified residue | 755 | 1 | Phosphothreonine By similarity | |||||||||||||||||
| Modified residue | 850 | 1 | Phosphoserine By similarity | |||||||||||||||||
Natural variations | ||||||||||||||||||||
| Alternative sequence | 1 – 437 | 437 | Missing in isoform 1. | VSP_037871 | ||||||||||||||||
| Alternative sequence | 438 – 450 | 13 | TAIQG…KEKAE → MCRKKPDTMILTQ in isoform 1. | VSP_037872 | ||||||||||||||||
| Alternative sequence | 450 – 498 | 49 | EIEAK…DAIEA → AVKSVKLEVDEDKSTKGSNF SNSEVAIGLSPYTFPQKRLF HVAGEENIT in isoform 3. | VSP_037873 | ||||||||||||||||
| Alternative sequence | 499 – 1528 | 1030 | Missing in isoform 3. | VSP_037874 | ||||||||||||||||
| Natural variant | 27 | 1 | R → C. Corresponds to variant rs34575560 [ dbSNP | Ensembl ]. | VAR_059293 | ||||||||||||||||
| Natural variant | 81 | 1 | L → V. Corresponds to variant rs3816748 [ dbSNP | Ensembl ]. | VAR_059294 | ||||||||||||||||
| Natural variant | 254 | 1 | Q → H. Ref.4 Ref.5 Corresponds to variant rs11203495 [ dbSNP | Ensembl ]. | VAR_059295 | ||||||||||||||||
| Natural variant | 255 | 1 | N → D. Ref.4 Ref.5 Ref.7 Corresponds to variant rs11203494 [ dbSNP | Ensembl ]. | VAR_059296 | ||||||||||||||||
| Natural variant | 260 | 1 | T → I. Ref.4 Ref.5 Corresponds to variant rs3816747 [ dbSNP | Ensembl ]. | VAR_059297 | ||||||||||||||||
| Natural variant | 320 | 1 | Q → H. Corresponds to variant rs34591797 [ dbSNP | Ensembl ]. | VAR_059298 | ||||||||||||||||
| Natural variant | 712 | 1 | N → S. Ref.1 Ref.9 Corresponds to variant rs1044092 [ dbSNP | Ensembl ]. | VAR_014229 | ||||||||||||||||
| Natural variant | 791 | 1 | V → M. Ref.2 Ref.3 Ref.4 Ref.9 Corresponds to variant rs532841 [ dbSNP | Ensembl ]. | VAR_014230 | ||||||||||||||||
| Natural variant | 959 | 1 | T → A. Ref.9 | VAR_014231 | ||||||||||||||||
| Natural variant | 998 | 1 | H → Q. Ref.9 | VAR_014232 | ||||||||||||||||
| Natural variant | 1025 | 1 | V → A. Ref.9 | VAR_014233 | ||||||||||||||||
| Natural variant | 1199 | 1 | E → V. Ref.1 Ref.9 Corresponds to variant rs1044093 [ dbSNP | Ensembl ]. | VAR_014234 | ||||||||||||||||
| Natural variant | 1209 | 1 | S → C. Ref.1 Ref.9 Corresponds to variant rs1044094 [ dbSNP | Ensembl ]. | VAR_014235 | ||||||||||||||||
Experimental info | ||||||||||||||||||||
| Sequence conflict | 43 | 1 | S → C in BAB14996. Ref.5 | |||||||||||||||||
| Sequence conflict | 130 | 1 | T → I in BAB14996. Ref.5 | |||||||||||||||||
| Sequence conflict | 571 | 1 | H → L in BAB21814. Ref.4 | |||||||||||||||||
| Sequence conflict | 1114 | 1 | R → K in AAB87700. Ref.1 | |||||||||||||||||
| Sequence conflict | 1364 | 1 | P → R in AAB87700. Ref.1 | |||||||||||||||||
Secondary structure | ||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||
| Beta strand | 443 – 445 | 3 | ||||||||||||||||||
| Helix | 446 – 463 | 18 | ||||||||||||||||||
| Helix | 468 – 473 | 6 | ||||||||||||||||||
| Helix | 481 – 487 | 7 | ||||||||||||||||||
| Turn | 488 – 490 | 3 | ||||||||||||||||||
| Helix | 493 – 509 | 17 | ||||||||||||||||||
| Turn | 510 – 514 | 5 | ||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning, characterization, and chromosomal localization of a gene frequently deleted in human liver cancer (DLC-1) homologous to rat RhoGAP." Yuan B.Z., Miller M.J., Keck C.L., Zimonjic D.B., Thorgeirsson S.S., Popescu N.C. Cancer Res. 58:2196-2199(1998) [PubMed: 9605766] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS SER-712; VAL-1199 AND CYS-1209. |
| [2] | "Cloning and molecular charaterization of the human ortholog of the rat dual regulator p122RhoGAP." Wei M.-H., Pack S., Ivanov S., Lerman M.I. Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-791. Tissue: Lung. |
| [3] | "Identification of HP/DLC1 exon and introns." Jeong S.-J., Dimtchev A., Lerman M., Dritschilo A., Jung M. Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT MET-791. |
| [4] | "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: 11214970] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS HIS-254; ASP-255 AND ILE-260 AND MET-791. Tissue: Brain. |
| [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS HIS-254; ASP-255 AND ILE-260. Tissue: Smooth muscle. |
| [6] | "DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. Lander E.S.Nature 439:331-335(2006) [PubMed: 16421571] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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] (ISOFORM 2), VARIANT ASP-255. Tissue: Brain. |
| [8] | "Solution structure of the SAM-domain of rho-GTPase-activating protein 7." RIKEN structural genomics initiative (RSGI) Submitted (APR-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 438-518. |
| [9] | "Sequence variants of DLC1 in colorectal and ovarian tumours." Wilson P.J., McGlinn E., Marsh A., Evans T., Arnold J., Wright K., Biden K., Young J., Wainwright B., Wicking C., Chenevix-Trench G. Hum. Mutat. 15:156-165(2000) [PubMed: 10649492] [Abstract] Cited for: VARIANTS SER-712; MET-791; ALA-959; GLN-998; ALA-1025; VAL-1199 AND CYS-1209. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AF035119 mRNA. Translation: AAB87700.1. AF026219 mRNA. Translation: AAB81637.1. Different initiation. AF408781 AF408780 Genomic DNA. Translation: AAK97501.1.AB051510 mRNA. Translation: BAB21814.1. Different initiation. AK024774 mRNA. Translation: BAB14996.1. AC015641 Genomic DNA. No translation available. AC019270 Genomic DNA. No translation available. AC022844 Genomic DNA. No translation available. AC106845 Genomic DNA. No translation available. BC054511 mRNA. Translation: AAH54511.1. | ||||||||||||||||||||||||||||||
| IPI | IPI00015556. IPI00335259. IPI00374033. | ||||||||||||||||||||||||||||||
| RefSeq | NP_001157743.1. NM_001164271.1. NP_006085.2. NM_006094.4. NP_872584.2. NM_182643.2. | ||||||||||||||||||||||||||||||
| UniGene | Hs.134296. | ||||||||||||||||||||||||||||||
3D structure databases | |||||||||||||||||||||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||||||||||||||||||||
| ProteinModelPortal | Q96QB1. | ||||||||||||||||||||||||||||||
| SMR | Q96QB1. Positions 454-513, 1070-1279, 1324-1515. | ||||||||||||||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||||||||||||||
| IntAct | Q96QB1. 2 interactions. | ||||||||||||||||||||||||||||||
| STRING | Q96QB1. | ||||||||||||||||||||||||||||||
PTM databases | |||||||||||||||||||||||||||||||
| PhosphoSite | Q96QB1. | ||||||||||||||||||||||||||||||
Polymorphism databases | |||||||||||||||||||||||||||||||
| DMDM | 257051065. | ||||||||||||||||||||||||||||||
Proteomic databases | |||||||||||||||||||||||||||||||
| PRIDE | Q96QB1. | ||||||||||||||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||||||||||||||
Genome annotation databases | |||||||||||||||||||||||||||||||
| Ensembl | ENST00000276297; ENSP00000276297; ENSG00000164741. ENST00000316609; ENSP00000321034; ENSG00000164741. ENST00000358919; ENSP00000351797; ENSG00000164741. | ||||||||||||||||||||||||||||||
| GeneID | 10395. | ||||||||||||||||||||||||||||||
| KEGG | hsa:10395. | ||||||||||||||||||||||||||||||
| UCSC | uc003wwk.1. human. | ||||||||||||||||||||||||||||||
Organism-specific databases | |||||||||||||||||||||||||||||||
| CTD | 10395. | ||||||||||||||||||||||||||||||
| GeneCards | GC08M012985. | ||||||||||||||||||||||||||||||
| HGNC | HGNC:2897. DLC1. | ||||||||||||||||||||||||||||||
| HPA | HPA017753. | ||||||||||||||||||||||||||||||
| MIM | 604258. gene. | ||||||||||||||||||||||||||||||
| neXtProt | NX_Q96QB1. | ||||||||||||||||||||||||||||||
| HUGE | Search... | ||||||||||||||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||||||||||||||
| eggNOG | prNOG06567. | ||||||||||||||||||||||||||||||
| GeneTree | ENSGT00600000084127. | ||||||||||||||||||||||||||||||
| HOVERGEN | HBG055955. | ||||||||||||||||||||||||||||||
| OMA | HVKGMQR. | ||||||||||||||||||||||||||||||
| OrthoDB | EOG4P2Q1D. | ||||||||||||||||||||||||||||||
| PhylomeDB | Q96QB1. | ||||||||||||||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||||||||||||||
| Reactome | REACT_111102. Signal Transduction. | ||||||||||||||||||||||||||||||
Gene expression databases | |||||||||||||||||||||||||||||||
| ArrayExpress | Q96QB1. | ||||||||||||||||||||||||||||||
| Bgee | Q96QB1. | ||||||||||||||||||||||||||||||
| CleanEx | HS_DLC1. | ||||||||||||||||||||||||||||||
| Genevestigator | Q96QB1. | ||||||||||||||||||||||||||||||
| GermOnline | ENSG00000164741. Homo sapiens. | ||||||||||||||||||||||||||||||
Family and domain databases | |||||||||||||||||||||||||||||||
| InterPro | IPR008936. Rho_GTPase_activation_prot. IPR000198. RhoGAP_dom. IPR001660. SAM. IPR011510. SAM_2. IPR023393. START-like_dom. IPR002913. START_lipid-bd. [Graphical view] | ||||||||||||||||||||||||||||||
| Gene3D | G3DSA:3.30.530.20. G3DSA:3.30.530.20. 1 hit. G3DSA:1.10.555.10. RhoGAP. 1 hit. | ||||||||||||||||||||||||||||||
| Pfam | PF00620. RhoGAP. 1 hit. PF07647. SAM_2. 1 hit. PF01852. START. 1 hit. [Graphical view] | ||||||||||||||||||||||||||||||
| SMART | SM00324. RhoGAP. 1 hit. SM00454. SAM. 1 hit. SM00234. START. 1 hit. [Graphical view] | ||||||||||||||||||||||||||||||
| SUPFAM | SSF48350. Rho_GAP. 1 hit. | ||||||||||||||||||||||||||||||
| PROSITE | PS50238. RHOGAP. 1 hit. PS50105. SAM_DOMAIN. False negative. PS50848. START. 1 hit. [Graphical view] | ||||||||||||||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||||||||||||||
Other | |||||||||||||||||||||||||||||||
| NextBio | 39382. | ||||||||||||||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||||||||||||||
Entry information
| Entry name | RHG07_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96QB1 Secondary accession number(s): O14868 Q9H7A2 | ||||||||
| 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 8 Human chromosome 8: 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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with