Q8NDA8 (MROH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 80.
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: Maestro heat-like repeat-containing protein family member 1 Alternative name(s): HEAT repeat-containing protein 7A | ||||
| Gene names |
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| 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 | 1641 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Sequence similarities | Contains 7 HEAT repeats. |
| Sequence caution | The sequence AAH57824.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence AAH67855.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence AAH92486.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAB47462.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAD38979.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NDA8-1) 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: Q8NDA8-2) The sequence of this isoform differs from the canonical sequence as follows: 774-782: Missing. 1143-1156: SHTCMLWRALAVEP → RYPAQTPGLGVPLE 1157-1641: Missing. | ||||||
| Isoform 3 (identifier: Q8NDA8-3) The sequence of this isoform differs from the canonical sequence as follows: 1-1038: Missing. 1039-1040: GQ → MR 1593-1641: FLVLHSEPRQ...EALGRLVKLA → KHHPLPHPHA...PGPRGADEGC | ||||||
| Isoform 4 (identifier: Q8NDA8-4) The sequence of this isoform differs from the canonical sequence as follows: 381-422: AAQMEDKKPF...VISAMAHHGY → GSTNTRITLM...DLTAAPASVA 423-1641: Missing. | ||||||
| Isoform 5 (identifier: Q8NDA8-5) The sequence of this isoform differs from the canonical sequence as follows: 317-378: ICVPVESSSP...TLQVVRHVIN → VGGGRQGAGP...AMWRCSCPAQ 379-1641: Missing. | ||||||
| Isoform 6 (identifier: Q8NDA8-6) The sequence of this isoform differs from the canonical sequence as follows: 1-68: Missing. 381-408: AAQMEDKKPFILSSMRLPLLDTNSKVKR → GECLHASLAATPGHVQDGAGPGRLCPSK 409-1641: Missing. | ||||||
| Isoform 7 (identifier: Q8NDA8-7) The sequence of this isoform differs from the canonical sequence as follows: 592-610: EHTEETLPQEEWEEKLLMF → GEARVRMGCIALWGGQVSE 611-1641: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1641 | 1641 | Maestro heat-like repeat-containing protein family member 1 | PRO_0000329402 | |||||
Regions | |||||||||
| Repeat | 3 – 41 | 39 | HEAT 1 | ||||||
| Repeat | 159 – 198 | 40 | HEAT 2 | ||||||
| Repeat | 344 – 382 | 39 | HEAT 3 | ||||||
| Repeat | 385 – 423 | 39 | HEAT 4 | ||||||
| Repeat | 1048 – 1086 | 39 | HEAT 5 | ||||||
| Repeat | 1358 – 1396 | 39 | HEAT 6 | ||||||
| Repeat | 1605 – 1641 | 37 | HEAT 7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 1038 | 1038 | Missing in isoform 3. | VSP_032963 | |||||
| Alternative sequence | 1 – 68 | 68 | Missing in isoform 6. | VSP_032965 | |||||
| Alternative sequence | 317 – 378 | 62 | ICVPV…RHVIN → VGGGRQGAGPGSAHPSVGSC WTRGAESKLGWMAQPRGAED WAFPEGHSGDFLAMWRCSCP AQ in isoform 5. | VSP_032966 | |||||
| Alternative sequence | 379 – 1641 | 1263 | Missing in isoform 5. | VSP_032967 | |||||
| Alternative sequence | 381 – 422 | 42 | AAQME…AHHGY → GSTNTRITLMLPSAVTRLKH EDCPARAAPQPADLTAAPAS VA in isoform 4. | VSP_032968 | |||||
| Alternative sequence | 381 – 408 | 28 | AAQME…SKVKR → GECLHASLAATPGHVQDGAG PGRLCPSK in isoform 6. | VSP_032969 | |||||
| Alternative sequence | 409 – 1641 | 1233 | Missing in isoform 6. | VSP_032970 | |||||
| Alternative sequence | 423 – 1641 | 1219 | Missing in isoform 4. | VSP_032971 | |||||
| Alternative sequence | 592 – 610 | 19 | EHTEE…KLLMF → GEARVRMGCIALWGGQVSE in isoform 7. | VSP_032972 | |||||
| Alternative sequence | 611 – 1641 | 1031 | Missing in isoform 7. | VSP_032973 | |||||
| Alternative sequence | 774 – 782 | 9 | Missing in isoform 2. | VSP_032974 | |||||
| Alternative sequence | 1039 – 1040 | 2 | GQ → MR in isoform 3. | VSP_032975 | |||||
| Alternative sequence | 1143 – 1156 | 14 | SHTCM…LAVEP → RYPAQTPGLGVPLE in isoform 2. | VSP_032976 | |||||
| Alternative sequence | 1157 – 1641 | 485 | Missing in isoform 2. | VSP_032977 | |||||
| Alternative sequence | 1593 – 1641 | 49 | FLVLH…LVKLA → KHHPLPHPHAARQPRLMPPL HRVPGAALGAQAAAAGGPGP AHCGAPDPAEGPGPRGADEG C in isoform 3. | VSP_032978 | |||||
| Natural variant | 38 | 1 | A → V. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6 Corresponds to variant rs34819224 [ dbSNP | Ensembl ]. | VAR_062166 | |||||
Experimental info | |||||||||
| Sequence conflict | 70 | 1 | E → K in AK093563. Ref.2 | ||||||
Sequences
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References
| [1] | "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-38. Tissue: Brain. |
| [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] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 384-1641 (ISOFORM 7), VARIANT VAL-38. Tissue: Spleen and Thymus. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT VAL-38. Tissue: Testis. |
| [4] | "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] [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], VARIANT VAL-38. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 6), VARIANT VAL-38. Tissue: Blood and Placenta. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB058736 mRNA. Translation: BAB47462.1. Different initiation. AK092861 mRNA. No translation available. AK093563 mRNA. No translation available. AL834309 mRNA. Translation: CAD38979.1. Different initiation. AL834145 mRNA. Translation: CAD38858.1. AC104592 Genomic DNA. No translation available. AC145291 Genomic DNA. No translation available. CH471162 Genomic DNA. Translation: EAW82134.1. CH471162 Genomic DNA. Translation: EAW82137.1. CH471162 Genomic DNA. Translation: EAW82143.1. BC040742 mRNA. Translation: AAH40742.1. BC092486 mRNA. Translation: AAH92486.1. Different initiation. BC057824 mRNA. Translation: AAH57824.1. Different initiation. BC067855 mRNA. Translation: AAH67855.1. Different initiation. |
| IPI | IPI00167967. IPI00386045. IPI00787261. IPI00889514. IPI00889659. IPI00889691. IPI00889776. |
| RefSeq | NP_001092750.1. NM_001099280.1. NP_001092751.1. NM_001099281.1. NP_115826.2. NM_032450.2. |
| UniGene | Hs.443139. |
3D structure databases | |
| ProteinModelPortal | Q8NDA8. |
| SMR | Q8NDA8. Positions 1325-1395. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q8NDA8. |
Polymorphism databases | |
| DMDM | 296439329. |
Proteomic databases | |
| PaxDb | Q8NDA8. |
| PRIDE | Q8NDA8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000326134; ENSP00000321737; ENSG00000179832. ENST00000398656; ENSP00000381649; ENSG00000179832. ENST00000423230; ENSP00000388174; ENSG00000179832. ENST00000528919; ENSP00000435565; ENSG00000179832. ENST00000544576; ENSP00000437866; ENSG00000179832. ENST00000562181; ENSP00000454801; ENSG00000260383. ENST00000568089; ENSP00000455272; ENSG00000260383. |
| GeneID | 727957. |
| KEGG | hsa:727957. |
| UCSC | uc003zbg.2. human. uc003zbh.4. human. uc003zbk.4. human. uc003zbl.4. human. uc011lla.1. human. |
Organism-specific databases | |
| CTD | 727957. |
| GeneCards | GC08P145202. |
| H-InvDB | HIX0188658. |
| HGNC | HGNC:26958. MROH1. |
| HPA | HPA044465. |
| neXtProt | NX_Q8NDA8. |
| PharmGKB | PA164720350. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG291078. |
| HOVERGEN | HBG107983. |
| InParanoid | Q8NDA8. |
| OMA | PRCIDSN. |
| OrthoDB | EOG4PC9S1. |
Gene expression databases | |
| ArrayExpress | Q8NDA8. |
| Bgee | Q8NDA8. |
| CleanEx | HS_HEATR7A. |
| Genevestigator | Q8NDA8. |
Family and domain databases | |
| Gene3D | 1.25.10.10. 6 hits. |
| InterPro | IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR000357. HEAT. IPR021133. HEAT_type_2. [Graphical view] |
| Pfam | PF02985. HEAT. 1 hit. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 2 hits. |
| PROSITE | PS50077. HEAT_REPEAT. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | HEATR7A. human. |
| GenomeRNAi | 727957. |
| NextBio | 125683. |
Entry information
| Entry name | MROH1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NDA8 Secondary accession number(s): C9JWM5 Q96JJ4 | ||||||||
| 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 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
