Q8NFY4 (SEM6D_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 89.
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: Semaphorin-6D | ||||
| 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 | 1073 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections. |
| Subcellular location | Isoform 1: Cell membrane; Single-pass type I membrane protein Ref.1. Isoform 2: Cell membrane; Single-pass type I membrane protein Ref.1. Isoform 3: Cell membrane; Single-pass type I membrane protein Ref.1. Isoform 4: Cell membrane; Single-pass type I membrane protein Ref.1. Isoform 5: Cell membrane; Single-pass type I membrane protein Ref.1. |
| Sequence similarities | Belongs to the semaphorin family. Contains 1 PSI domain. Contains 1 Sema domain. |
| Sequence caution | The sequence BAA96003.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Differentiation Neurogenesis |
| Cellular component | Cell membrane Cytoplasm Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal Transmembrane Transmembrane helix |
| Molecular function | Developmental protein |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | axon guidance Traceable author statement. Source: Reactome |
| Cellular_component | Golgi apparatus Inferred from direct assay. Source: HPA integral to membraneInferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from direct assay. Source: HPA |
| Molecular_function | receptor activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 4 (identifier: Q8NFY4-1) Also known as: SEMA6D.4; 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: Q8NFY4-2) Also known as: SEMA6D.1; The sequence of this isoform differs from the canonical sequence as follows: 549-549: L → LLLTEDFFAFHNHS 570-644: Missing. | ||||||
| Isoform 2 (identifier: Q8NFY4-3) Also known as: SEMA6D.2; The sequence of this isoform differs from the canonical sequence as follows: 570-644: Missing. | ||||||
| Isoform 3 (identifier: Q8NFY4-4) Also known as: SEMA6D.3; The sequence of this isoform differs from the canonical sequence as follows: 589-644: Missing. | ||||||
| Isoform 5 (identifier: Q8NFY4-5) The sequence of this isoform differs from the canonical sequence as follows: 549-549: L → LLLTEDFFAFHNHS 589-644: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q8NFY4-6) The sequence of this isoform differs from the canonical sequence as follows: 570-588: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: Q8NFY4-7) Also known as: SEMA6Ds; Short; The sequence of this isoform differs from the canonical sequence as follows: 477-1073: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 20 | 20 | Potential | ||||||||
| Chain | 21 – 1073 | 1053 | Semaphorin-6D | PRO_0000044615 | |||||||
Regions | |||||||||||
| Topological domain | 21 – 662 | 642 | Extracellular Potential | ||||||||
| Transmembrane | 663 – 683 | 21 | Helical; Potential | ||||||||
| Topological domain | 684 – 1073 | 390 | Cytoplasmic Potential | ||||||||
| Domain | 27 – 512 | 486 | Sema | ||||||||
| Domain | 514 – 569 | 56 | PSI | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 51 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 283 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 435 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 461 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 631 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 108 ↔ 118 | By similarity | |||||||||
| Disulfide bond | 136 ↔ 145 | By similarity | |||||||||
| Disulfide bond | 259 ↔ 370 | By similarity | |||||||||
| Disulfide bond | 284 ↔ 329 | By similarity | |||||||||
| Disulfide bond | 477 ↔ 506 | By similarity | |||||||||
| Disulfide bond | 515 ↔ 533 | By similarity | |||||||||
| Disulfide bond | 521 ↔ 568 | By similarity | |||||||||
| Disulfide bond | 525 ↔ 541 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 477 – 1073 | 597 | Missing in isoform 7. | VSP_016564 | |||||||
| Alternative sequence | 549 | 1 | L → LLLTEDFFAFHNHS in isoform 1 and isoform 5. | VSP_016565 | |||||||
| Alternative sequence | 570 – 644 | 75 | Missing in isoform 1 and isoform 2. | VSP_016566 | |||||||
| Alternative sequence | 570 – 588 | 19 | Missing in isoform 6. | VSP_016572 | |||||||
| Alternative sequence | 589 – 644 | 56 | Missing in isoform 3 and isoform 5. | VSP_016567 | |||||||
| Natural variant | 307 | 1 | N → S. Corresponds to variant rs3743279 [ dbSNP | Ensembl ]. | VAR_051931 | |||||||
| Natural variant | 478 | 1 | S → N. Corresponds to variant rs532598 [ dbSNP | Ensembl ]. | VAR_051932 | |||||||
| Natural variant | 969 | 1 | S → T. Corresponds to variant rs16960074 [ dbSNP | Ensembl ]. | VAR_051933 | |||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification, characterization, and functional study of the two novel human members of the semaphorin gene family." Qu X., Wei H., Zhai Y., Que H., Chen Q., Tang F., Wu Y., Xing G., Zhu Y., Liu S., Fan M., He F. J. Biol. Chem. 277:35574-35585(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 7), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Brain. |
| [2] | "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [3] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION. |
| [4] | "Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. Nusbaum C.Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] (ISOFORM 1). |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF389426 mRNA. Translation: AAM69449.1. AF389427 mRNA. Translation: AAM69450.1. AF389428 mRNA. Translation: AAM69451.1. AF389429 mRNA. Translation: AAM69452.1. AF389430 mRNA. Translation: AAM69453.1. AB040912 mRNA. Translation: BAA96003.2. Different initiation. AC018900 Genomic DNA. No translation available. AC044787 Genomic DNA. No translation available. BC150253 mRNA. Translation: AAI50254.1. |
| IPI | IPI00170551. IPI00170617. IPI00178302. IPI00332846. IPI00374169. IPI00465042. IPI00657834. |
| RefSeq | NP_001185928.1. NM_001198999.1. NP_065909.1. NM_020858.1. NP_079242.2. NM_024966.2. NP_705869.1. NM_153616.1. NP_705870.1. NM_153617.1. NP_705871.1. NM_153618.1. NP_705872.1. NM_153619.1. |
| UniGene | Hs.511265. |
3D structure databases | |
| ProteinModelPortal | Q8NFY4. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q8NFY4. |
Polymorphism databases | |
| DMDM | 74715611. |
Proteomic databases | |
| PaxDb | Q8NFY4. |
| PRIDE | Q8NFY4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000316364; ENSP00000324857; ENSG00000137872. ENST00000354744; ENSP00000346786; ENSG00000137872. ENST00000358066; ENSP00000350770; ENSG00000137872. ENST00000389425; ENSP00000374076; ENSG00000137872. ENST00000389428; ENSP00000374079; ENSG00000137872. ENST00000389432; ENSP00000374083; ENSG00000137872. ENST00000389433; ENSP00000374084; ENSG00000137872. ENST00000536845; ENSP00000446152; ENSG00000137872. ENST00000537942; ENSP00000442040; ENSG00000137872. ENST00000558014; ENSP00000452815; ENSG00000137872. |
| GeneID | 80031. |
| KEGG | hsa:80031. |
| UCSC | uc001zvw.3. human. uc001zvx.1. human. uc001zvy.3. human. uc001zvz.3. human. uc001zwc.3. human. |
Organism-specific databases | |
| CTD | 80031. |
| GeneCards | GC15P047476. |
| HGNC | HGNC:16770. SEMA6D. |
| HPA | HPA043109. |
| MIM | 609295. gene. |
| neXtProt | NX_Q8NFY4. |
| PharmGKB | PA134951035. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG293968. |
| HOVERGEN | HBG072910. |
| InParanoid | Q8NFY4. |
| KO | K06842. |
| OMA | YIAGRDQ. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. |
Gene expression databases | |
| ArrayExpress | Q8NFY4. |
| Bgee | Q8NFY4. |
| Genevestigator | Q8NFY4. |
| GermOnline | ENSG00000137872. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.130.10.10. 1 hit. |
| InterPro | IPR003659. Plexin-like. IPR016201. Plexin-like_fold. IPR002165. Plexin_repeat. IPR027231. Semaphorin. IPR001627. Semaphorin/CD100_Ag. IPR015943. WD40/YVTN_repeat-like_dom. [Graphical view] |
| PANTHER | PTHR11036. PTHR11036. 1 hit. |
| Pfam | PF01437. PSI. 1 hit. PF01403. Sema. 1 hit. [Graphical view] |
| SMART | SM00423. PSI. 1 hit. SM00630. Sema. 1 hit. [Graphical view] |
| SUPFAM | SSF103575. Plexin-like_fold. 1 hit. SSF101912. Sema. 1 hit. |
| PROSITE | PS51004. SEMA. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 80031. |
| NextBio | 70190. |
| SOURCE | Search... |
Entry information
| Entry name | SEM6D_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NFY4 Secondary accession number(s): A6NF10 Q9P249 | ||||||||
| 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 15 Human chromosome 15: 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
