Q5SYE7 (NHSL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 61.
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: NHS-like protein 1 | ||||
| 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 | 1610 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Tissue specificity | Widely expressed. Expressed in adult and fetal brain, fetal eyes, adult lens, kidney, liver and intestine. Ref.5 |
| Sequence similarities | Belongs to the NHS family. |
| Sequence caution | The sequence CAI12098.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI12099.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI14156.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI14157.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5SYE7-1) 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: Q5SYE7-2) The sequence of this isoform differs from the canonical sequence as follows: 1-68: MKKEGSSGSF...WIYRAQPRKA → MVVFINAKIKSLIKLFKKKT 225-225: T → TGENFDRQASLRRSLIYTDTLVRRPKKVKRRKTITGVPDNIQKEL |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1610 | 1610 | NHS-like protein 1 | PRO_0000341353 | |||||
Regions | |||||||||
| Compositional bias | 894 – 918 | 25 | Ser-rich | ||||||
| Compositional bias | 926 – 1070 | 145 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1167 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 1386 | 1 | Phosphoserine Ref.7 Ref.9 | ||||||
| Modified residue | 1388 | 1 | Phosphoserine Ref.7 Ref.9 | ||||||
| Modified residue | 1392 | 1 | Phosphothreonine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 68 | 68 | MKKEG…QPRKA → MVVFINAKIKSLIKLFKKKT in isoform 2. | VSP_040818 | |||||
| Alternative sequence | 225 | 1 | T → TGENFDRQASLRRSLIYTDT LVRRPKKVKRRKTITGVPDN IQKEL in isoform 2. | VSP_040819 | |||||
| Natural variant | 1085 | 1 | V → M. Corresponds to variant rs3734305 [ dbSNP | Ensembl ]. | VAR_044055 | |||||
| Natural variant | 1585 | 1 | G → S. Ref.4 Corresponds to variant rs11540147 [ dbSNP | Ensembl ]. | VAR_044056 | |||||
Experimental info | |||||||||
| Sequence conflict | 1487 | 1 | E → S in AAH45181. Ref.4 | ||||||
| Sequence conflict | 1608 | 1 | E → K in AAH45181. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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 2). |
| [2] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 775-1610. |
| [4] | "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] OF 1487-1610, VARIANT SER-1585. Tissue: Brain. |
| [5] | "Identification of the gene for Nance-Horan syndrome (NHS)." Brooks S.P., Ebenezer N.D., Poopalasundaram S., Lehmann O.J., Moore A.T., Hardcastle A.J. J. Med. Genet. 41:768-771(2004) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION, TISSUE SPECIFICITY. |
| [6] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [7] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1167; SER-1386; SER-1388 AND THR-1392, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [9] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1386 AND SER-1388, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK307584 mRNA. No translation available. AL591375, AL391669 Genomic DNA. Translation: CAI12098.1. Sequence problems. AL591375, AL391669 Genomic DNA. Translation: CAI12099.1. Sequence problems. AL391669, AL591375 Genomic DNA. Translation: CAI14156.1. Sequence problems. AL391669, AL591375 Genomic DNA. Translation: CAI14157.1. Sequence problems. AB037778 mRNA. Translation: BAA92595.1. BC045181 mRNA. Translation: AAH45181.1. |
| IPI | IPI00414367. IPI00455733. |
| RefSeq | NP_001137532.1. NM_001144060.1. NP_065197.1. NM_020464.1. |
| UniGene | Hs.652741. |
3D structure databases | |
| ProteinModelPortal | Q5SYE7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000344672. |
PTM databases | |
| PhosphoSite | Q5SYE7. |
Polymorphism databases | |
| DMDM | 190360005. |
Proteomic databases | |
| PaxDb | Q5SYE7. |
| PRIDE | Q5SYE7. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000343505; ENSP00000344672; ENSG00000135540. ENST00000427025; ENSP00000394546; ENSG00000135540. |
| GeneID | 57224. |
| KEGG | hsa:57224. |
| UCSC | uc003qhx.3. human. |
Organism-specific databases | |
| CTD | 57224. |
| GeneCards | GC06M138743. |
| HGNC | HGNC:21021. NHSL1. |
| HPA | HPA029966. |
| neXtProt | NX_Q5SYE7. |
| PharmGKB | PA134929320. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG40758. |
| HOGENOM | HOG000113783. |
| HOVERGEN | HBG108185. |
| OMA | CSDFEEP. |
Gene expression databases | |
| ArrayExpress | Q5SYE7. |
| Bgee | Q5SYE7. |
| CleanEx | HS_NHSL1. |
| Genevestigator | Q5SYE7. |
Family and domain databases | |
| InterPro | IPR024845. NHS_fam. [Graphical view] |
| PANTHER | PTHR23039. PTHR23039. 1 hit. |
| ProtoNet | Search... |
Other | |
| ChiTaRS | NHSL1. human. |
| GenomeRNAi | 57224. |
| NextBio | 63359. |
Entry information
| Entry name | NHSL1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5SYE7 Secondary accession number(s): Q3ZCS5, Q5SYE8, Q9P2J0 | ||||||||
| 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 6 Human chromosome 6: 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
