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UniProtKB/Swiss-Prot O00423 (EMAL1_HUMAN)
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June 16, 2009.
Version 81.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Echinoderm microtubule-associated protein-like 1 Short name=EMAP-1 Alternative name(s): HuEMAP-1 | ||||
| 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 | 815 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic By similarity. |
| Subcellular location | Cytoplasm Potential. |
| Tissue specificity | Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes. Ref.5 |
| Sequence similarities | Belongs to the WD repeat EMAP family. Contains 10 WD repeats. |
| Sequence caution | The sequence AAB57824.1 differs from that shown. Reason: Frameshift at positions 392 and 421. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Microtubule |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat WD repeat |
| Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell microtubuleInferred from electronic annotation. Source: UniProtKB-KW microtubule associated complex Ref.1Traceable author statement. Source: ProtInc |
| Molecular function | calcium ion binding Ref.1 Non-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O00423-1) 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: O00423-2) The sequence of this isoform differs from the canonical sequence as follows: 1-167: MEDGFSSYSS...TGSTSSSSSG → MALCYQRYLL...QAPPAALPVA | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: O00423-3) The sequence of this isoform differs from the canonical sequence as follows: 127-127: K → KRLNRSVSLLNACKLNRSTP | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 815 | 815 | Echinoderm microtubule-associated protein-like 1 | PRO_0000050961 | |||||
Regions | |||||||||
| Repeat | 269 – 318 | 50 | WD 1 | ||||||
| Repeat | 323 – 366 | 44 | WD 2 | ||||||
| Repeat | 369 – 408 | 40 | WD 3 | ||||||
| Repeat | 416 – 454 | 39 | WD 4 | ||||||
| Repeat | 458 – 497 | 40 | WD 5 | ||||||
| Repeat | 541 – 580 | 40 | WD 6 | ||||||
| Repeat | 582 – 621 | 40 | WD 7 | ||||||
| Repeat | 624 – 663 | 40 | WD 8 | ||||||
| Repeat | 670 – 709 | 40 | WD 9 | ||||||
| Repeat | 737 – 776 | 40 | WD 10 | ||||||
| Repeat | 782 – 815 | 34 | WD 11 | ||||||
| Compositional bias | 160 – 166 | 7 | Poly-Ser | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 167 | 167 | MEDGF…SSSSG → MALCYQRYLLALYHPPPGSG KILLCQQPKVTSRGPALLNE CLLGVEGKAMGIPEETGIAQ APPAALPVA in isoform 2. | VSP_024475 | |||||
| Alternative sequence | 127 | 1 | K → KRLNRSVSLLNACKLNRSTP in isoform 3. | VSP_024476 | |||||
| Natural variant | 377 | 1 | A → V: dbSNP rs34198557. | VAR_031720 | |||||
| Natural variant | 552 | 1 | H → N: dbSNP rs17853154. Ref.3 | VAR_031721 | |||||
| Natural variant | 556 | 1 | P → S: dbSNP rs2250718. Ref.3 | VAR_031722 | |||||
Experimental info | |||||||||
| Sequence conflict | 189 | 1 | L → M in CAD12600. Ref.2 | ||||||
| Sequence conflict | 189 | 1 | L → M in AAH32541. Ref.3 | ||||||
| Sequence conflict | 189 | 1 | L → M in AAH33043. Ref.3 | ||||||
| Sequence conflict | 189 | 1 | L → M in CAD62313. Ref.4 | ||||||
| Sequence conflict | 464 – 465 | 2 | SP → FA in AAH32541. Ref.3 | ||||||
| Sequence conflict | 464 – 465 | 2 | SP → FA in AAH33043. Ref.3 | ||||||
| Sequence conflict | 464 – 465 | 2 | SP → FA in CAD62313. Ref.4 | ||||||
| Sequence conflict | 499 – 500 | 2 | IP → VS in CAD62313. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32." Eudy J.D., Ma-Edmonds M., Yao S.F., Talmadge C.B., Kelley P.M., Weston M.D., Kimberling W.J., Sumegi J. Genomics 43:104-106(1997) [PubMed: 9226380] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). |
| [2] | "Complete exon-intron structure of human homologue of the gene coding the echinoderm microtubule-associated protein (EMAP)." Gerber S., Sumegi J., Rozet J.-M., Perrault I., Ducroq D., Munnich A., Kaplan J. Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "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 1), VARIANTS ASN-552 AND SER-556. Tissue: Brain and Uterus. |
| [4] | "Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-500 (ISOFORM 3). Tissue: Fetal brain. |
| [5] | "Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2)." Lepley D.M., Palange J.M., Suprenant K.A. Gene 237:343-349(1999) [PubMed: 10521658] [Abstract] Cited for: TISSUE SPECIFICITY. |
Cross-references
Sequence databases | |
|---|---|
| U97018 mRNA. Translation: AAB57824.1. Frameshift. AJ420603  AJ428186 Genomic DNA. Translation: CAD12600.2. BC032541 mRNA. Translation: AAH32541.1. BC033043 mRNA. Translation: AAH33043.1. BX247979 mRNA. Translation: CAD62313.1. Different initiation. | |
| IPI | IPI00004582. IPI00334011. IPI00550611. |
| RefSeq | NP_001008707.1. NP_004425.2. |
| UniGene | Hs.12451 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O00423. 1 interaction. |
PTM databases | |
| PhosphoSite | O00423. |
Genome annotation databases | |
| Ensembl | ENSG00000066629. Homo sapiens. [Contig view] |
| GeneID | 2009. |
| KEGG | hsa:2009. |
Organism-specific databases | |
| GeneCards | GC14P099329. |
| H-InvDB | HIX0011963. |
| HGNC | HGNC:3330. EML1. |
| MIM | 602033. gene. |
| PharmGKB | PA27767. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | O00423. |
Gene expression databases | |
| ArrayExpress | O00423. |
| Bgee | O00423. |
| CleanEx | HS_EML1. |
| GermOnline | ENSG00000066629. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR005108. HELP. IPR015943. WD40/YVTN_repeat-like. IPR001680. WD40_repeat. IPR019782. WD40_repeat_2. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_region. IPR019781. WD40_repeat_sg. [Graphical view] |
| Gene3D | G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 2 hits. |
| Pfam | PF03451. HELP. 1 hit. PF00400. WD40. 5 hits. [Graphical view] |
| SMART | SM00320. WD40. 10 hits. [Graphical view] |
| PROSITE | PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 3 hits. PS50294. WD_REPEATS_REGION. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 8131. |
| SOURCE | Search... |
Entry information
| Entry name | EMAL1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O00423 Secondary accession number(s): Q86U15 Q8WWL6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 14 Human chromosome 14: 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 |
