Q9H254 (SPTN4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 115.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Spectrin beta chain, non-erythrocytic 4 Alternative name(s): Beta-IV spectrin Spectrin, non-erythroid beta chain 3 | ||||
| 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 | 2564 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subcellular location | Cytoplasm › cytoskeleton By similarity. Cytoplasm › cell cortex By similarity. |
| Tissue specificity | Abundantly expressed in brain and pancreatic islets. |
| Sequence similarities | Belongs to the spectrin family. Contains 2 CH (calponin-homology) domains. Contains 1 PH domain. Contains 18 spectrin repeats. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| DISC1 | Q9NRI5 | 3 | EBI-308543,EBI-529989 |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9H254-1) 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: Q9H254-2) The sequence of this isoform differs from the canonical sequence as follows: 1287-1309: NQENQLRAQQWMQKLHDQLELQH → CLIIHPALLHPPWEPPYLPRSSS 1310-2564: Missing. | ||||||
| Isoform 3 (identifier: Q9H254-3) The sequence of this isoform differs from the canonical sequence as follows: 1-1257: Missing. 1258-1286: AVQAAEGLLRQGNIYGEQAQEAVTRLLEK → MPHYPSCSSAPSLGTPIPPQIQQLEARHR | ||||||
| Isoform 4 (identifier: Q9H254-4) The sequence of this isoform differs from the canonical sequence as follows: 2113-2154: IEKIKAEQSK...APLLRPGGYE → PRREDHLNPG...KTARRDGTCL 2155-2564: Missing. | ||||||
| Isoform 5 (identifier: Q9H254-5) The sequence of this isoform differs from the canonical sequence as follows: 1-1324: Missing. 1973-2002: DVSSVEVLMNYHQGLKTELEARVPELTTCQ → CPSSLLGLPASPWWPTPATPSPLTAPFSME 2003-2564: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2564 | 2564 | Spectrin beta chain, non-erythrocytic 4 | PRO_0000073465 | |||||
Regions | |||||||||
| Domain | 1 – 282 | 282 | Actin-binding | ||||||
| Domain | 61 – 165 | 105 | CH 1 | ||||||
| Domain | 180 – 282 | 103 | CH 2 | ||||||
| Repeat | 309 – 354 | 46 | Spectrin 1 | ||||||
| Repeat | 398 – 419 | 22 | Spectrin 2 | ||||||
| Repeat | 429 – 533 | 105 | Spectrin 3 | ||||||
| Repeat | 535 – 642 | 108 | Spectrin 4 | ||||||
| Repeat | 644 – 771 | 128 | Spectrin 5 | ||||||
| Repeat | 773 – 879 | 107 | Spectrin 6 | ||||||
| Repeat | 881 – 985 | 105 | Spectrin 7 | ||||||
| Repeat | 1019 – 1086 | 68 | Spectrin 8 | ||||||
| Repeat | 1088 – 1197 | 110 | Spectrin 9 | ||||||
| Repeat | 1199 – 1303 | 105 | Spectrin 10 | ||||||
| Repeat | 1305 – 1408 | 104 | Spectrin 11 | ||||||
| Repeat | 1410 – 1513 | 104 | Spectrin 12 | ||||||
| Repeat | 1515 – 1619 | 105 | Spectrin 13 | ||||||
| Repeat | 1621 – 1725 | 105 | Spectrin 14 | ||||||
| Repeat | 1727 – 1832 | 106 | Spectrin 15 | ||||||
| Repeat | 1834 – 1940 | 107 | Spectrin 16 | ||||||
| Repeat | 1942 – 2046 | 105 | Spectrin 17 | ||||||
| Repeat | 2048 – 2107 | 60 | Spectrin 18 | ||||||
| Domain | 2418 – 2527 | 110 | PH | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 1324 | 1324 | Missing in isoform 5. | VSP_046383 | |||||
| Alternative sequence | 1 – 1257 | 1257 | Missing in isoform 3. | VSP_000723 | |||||
| Alternative sequence | 1258 – 1286 | 29 | AVQAA…RLLEK → MPHYPSCSSAPSLGTPIPPQ IQQLEARHR in isoform 3. | VSP_000724 | |||||
| Alternative sequence | 1287 – 1309 | 23 | NQENQ…LELQH → CLIIHPALLHPPWEPPYLPR SSS in isoform 2. | VSP_000725 | |||||
| Alternative sequence | 1310 – 2564 | 1255 | Missing in isoform 2. | VSP_000726 | |||||
| Alternative sequence | 1973 – 2002 | 30 | DVSSV…LTTCQ → CPSSLLGLPASPWWPTPATP SPLTAPFSME in isoform 5. | VSP_046384 | |||||
| Alternative sequence | 2003 – 2564 | 562 | Missing in isoform 5. | VSP_046385 | |||||
| Alternative sequence | 2113 – 2154 | 42 | IEKIK…PGGYE → PRREDHLNPGVQDQPWQHTE KPSLPKPKANKEKTARRDGT CL in isoform 4. | VSP_000727 | |||||
| Alternative sequence | 2155 – 2564 | 410 | Missing in isoform 4. | VSP_000728 | |||||
| Natural variant | 1331 | 1 | G → S. Ref.1 Corresponds to variant rs814501 [ dbSNP | Ensembl ]. | VAR_048632 | |||||
Experimental info | |||||||||
| Sequence conflict | 604 – 608 | 5 | Missing in AAG38874. Ref.2 | ||||||
| Sequence conflict | 604 – 608 | 5 | Missing in AAF93171. Ref.2 | ||||||
| Sequence conflict | 714 | 1 | L → S in AAG38874. Ref.2 | ||||||
| Sequence conflict | 714 | 1 | L → S in AAF93171. Ref.2 | ||||||
| Sequence conflict | 714 | 1 | L → S in AAF93173. Ref.2 | ||||||
| Sequence conflict | 1189 | 1 | E → K in AAG38874. Ref.2 | ||||||
| Sequence conflict | 1189 | 1 | E → K in AAF93171. Ref.2 | ||||||
| Sequence conflict | 1189 | 1 | E → K in AAF93173. Ref.2 | ||||||
| Sequence conflict | 1193 | 1 | E → K in AAG38874. Ref.2 | ||||||
| Sequence conflict | 1193 | 1 | E → K in AAF93171. Ref.2 | ||||||
| Sequence conflict | 1193 | 1 | E → K in AAF93173. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A new spectrin, beta-IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix." Tse W.T., Tang J., Jin O., Korsgren C., John K.M., Kung A.L., Gwynn B., Peters L.L., Lux S.E. J. Biol. Chem. 276:23974-23985(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 5), VARIANT SER-1331. |
| [2] | "BetaIV spectrin, a new spectrin localized at axon initial segments and nodes of Ranvier in the central and peripheral nervous system." Berghs S., Aggujaro D., Dirkx R. Jr., Maksimova E., Stabach P., Hermel J.-M., Zhang J.-P., Philbrick W., Slepnev V., Ort T., Solimena M. J. Cell Biol. 151:985-1002(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4). |
| [3] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 386-2382 (ISOFORM 1). Tissue: Brain. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF311855 mRNA. Translation: AAG42473.1. AF311856 mRNA. Translation: AAG42474.1. AF082075 mRNA. Translation: AAG38874.1. AY004226 mRNA. Translation: AAF93171.1. AY004226 mRNA. Translation: AAF93172.1. AY004227 mRNA. Translation: AAF93173.1. AC020929 Genomic DNA. No translation available. AB046862 mRNA. Translation: BAB13468.1. |
| IPI | IPI00018829. IPI00217044. IPI00217047. IPI00217048. IPI00871486. |
| RefSeq | NP_066022.2. NM_020971.2. |
| UniGene | Hs.32706. |
3D structure databases | |
| ProteinModelPortal | Q9H254. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H254. 2 interactions. |
| STRING | 9606.ENSP00000263373. |
PTM databases | |
| PhosphoSite | Q9H254. |
Polymorphism databases | |
| DMDM | 17368942. |
Proteomic databases | |
| PaxDb | Q9H254. |
| PRIDE | Q9H254. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000338932; ENSP00000340345; ENSG00000160460. ENST00000352632; ENSP00000263373; ENSG00000160460. ENST00000392023; ENSP00000375877; ENSG00000160460. ENST00000598249; ENSP00000469242; ENSG00000160460. |
| GeneID | 57731. |
| KEGG | hsa:57731. |
| UCSC | uc002onx.3. human. |
Organism-specific databases | |
| CTD | 57731. |
| GeneCards | GC19P040973. |
| H-InvDB | HIX0015138. |
| HGNC | HGNC:14896. SPTBN4. |
| HPA | HPA043370. |
| MIM | 606214. gene. |
| neXtProt | NX_Q9H254. |
| PharmGKB | PA37918. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5069. |
| HOGENOM | HOG000007281. |
| HOVERGEN | HBG057912. |
| InParanoid | Q9H254. |
| KO | K06115. |
| OrthoDB | EOG490782. |
| PhylomeDB | Q9H254. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. REACT_127416. Developmental Biology. |
Gene expression databases | |
| ArrayExpress | Q9H254. |
| Bgee | Q9H254. |
| CleanEx | HS_SPTBN4. |
| Genevestigator | Q9H254. |
| GermOnline | ENSG00000160460. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.418.10. 2 hits. 2.30.29.30. 1 hit. |
| InterPro | IPR001589. Actinin_actin-bd_CS. IPR001715. CH-domain. IPR001605. PH_dom-spectrin-type. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR018159. Spectrin/alpha-actinin. IPR016343. Spectrin_bsu. IPR002017. Spectrin_repeat. [Graphical view] |
| Pfam | PF00307. CH. 2 hits. PF00169. PH. 1 hit. PF00435. Spectrin. 14 hits. [Graphical view] |
| PIRSF | PIRSF002297. Spectrin_beta_subunit. 1 hit. |
| PRINTS | PR00683. SPECTRINPH. |
| SMART | SM00033. CH. 2 hits. SM00233. PH. 1 hit. SM00150. SPEC. 16 hits. [Graphical view] |
| SUPFAM | SSF47576. Calponin-homology. 1 hit. |
| PROSITE | PS00019. ACTININ_1. 1 hit. PS00020. ACTININ_2. 1 hit. PS50021. CH. 2 hits. PS50003. PH_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 57731. |
| NextBio | 64688. |
| SOURCE | Search... |
Entry information
| Entry name | SPTN4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H254 Secondary accession number(s): E9PGQ5 Q9HCD0 | ||||||||
| 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 19 Human chromosome 19: 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
