Q96PK2 (MACF4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 96.
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: Microtubule-actin cross-linking factor 1, isoform 4 | ||||
| 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 | 5938 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May play a role in cross-linking cytoskeletal proteins by binding intermediate filaments to the N-terminal plectin repeats and microtubules to the C-terminus. Ref.1 |
| Subcellular location | Cytoplasm › cytoskeleton By similarity. |
| Tissue specificity | Expressed in heart, lung, pituitary and placenta, not found in brain, kidney, liver, pancreas or skeletal muscle. Ref.1 |
| Sequence similarities | Belongs to the plakin or cytolinker family. UniProtKB Q9UPN3 Contains 2 EF-hand domains. Contains 1 GAR domain. Contains 19 plectin repeats. Contains 32 spectrin repeats. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Repeat |
| Ligand | Calcium |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | cell cycle arrest Inferred from electronic annotation. Source: InterPro |
| Cellular component | cytoplasm Inferred from sequence or structural similarity. Source: UniProtKB |
| Molecular function | calcium ion binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 4 Ref.1 (identifier: Q96PK2-1) 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 1 Ref.1 (identifier: Q9UPN3-1) Also known as: Macf1b; The sequence of this isoform can be found in the external entry Q9UPN3. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Isoform 2 Ref.1 (identifier: Q9UPN3-2) Also known as: Mac1fa; The sequence of this isoform can be found in the external entry Q9UPN3. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Isoform 3 Ref.1 (identifier: Q9UPN3-3) The sequence of this isoform can be found in the external entry Q9UPN3. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Isoform 5 (identifier: Q9UPN3-4) The sequence of this isoform can be found in the external entry Q9UPN3. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 5938 | 5938 | Microtubule-actin cross-linking factor 1, isoform 4 | PRO_0000073450 | |||||
Regions | |||||||||
| Repeat | 12 – 49 | 38 | Plectin 1 | ||||||
| Repeat | 53 – 88 | 36 | Plectin 2 | ||||||
| Repeat | 89 – 126 | 38 | Plectin 3 | ||||||
| Repeat | 130 – 164 | 35 | Plectin 4 | ||||||
| Repeat | 166 – 202 | 37 | Plectin 5 | ||||||
| Repeat | 203 – 240 | 38 | Plectin 6 | ||||||
| Repeat | 243 – 278 | 36 | Plectin 7 | ||||||
| Repeat | 279 – 316 | 38 | Plectin 8 | ||||||
| Repeat | 318 – 354 | 37 | Plectin 9 | ||||||
| Repeat | 725 – 762 | 38 | Plectin 10 | ||||||
| Repeat | 763 – 800 | 38 | Plectin 11 | ||||||
| Repeat | 801 – 838 | 38 | Plectin 12 | ||||||
| Repeat | 839 – 876 | 38 | Plectin 13 | ||||||
| Repeat | 897 – 934 | 38 | Plectin 14 | ||||||
| Repeat | 935 – 972 | 38 | Plectin 15 | ||||||
| Repeat | 975 – 1011 | 37 | Plectin 16 | ||||||
| Repeat | 1012 – 1049 | 38 | Plectin 17 | ||||||
| Repeat | 1121 – 1158 | 38 | Plectin 18 | ||||||
| Repeat | 1159 – 1196 | 38 | Plectin 19 | ||||||
| Repeat | 1925 – 2032 | 108 | Spectrin 1 | ||||||
| Repeat | 2052 – 2160 | 109 | Spectrin 2 | ||||||
| Repeat | 2211 – 2313 | 103 | Spectrin 3 | ||||||
| Repeat | 2320 – 2430 | 111 | Spectrin 4 | ||||||
| Repeat | 2437 – 2543 | 107 | Spectrin 5 | ||||||
| Repeat | 2550 – 2652 | 103 | Spectrin 6 | ||||||
| Repeat | 2659 – 2758 | 100 | Spectrin 7 | ||||||
| Repeat | 2765 – 2896 | 132 | Spectrin 8 | ||||||
| Repeat | 2903 – 3008 | 106 | Spectrin 9 | ||||||
| Repeat | 3015 – 3119 | 105 | Spectrin 10 | ||||||
| Repeat | 3126 – 3229 | 104 | Spectrin 11 | ||||||
| Repeat | 3236 – 3339 | 104 | Spectrin 12 | ||||||
| Repeat | 3346 – 3446 | 101 | Spectrin 13 | ||||||
| Repeat | 3453 – 3555 | 103 | Spectrin 14 | ||||||
| Repeat | 3562 – 3664 | 103 | Spectrin 15 | ||||||
| Repeat | 3671 – 3775 | 105 | Spectrin 16 | ||||||
| Repeat | 3782 – 3884 | 103 | Spectrin 17 | ||||||
| Repeat | 3891 – 3993 | 103 | Spectrin 18 | ||||||
| Repeat | 4000 – 4102 | 103 | Spectrin 19 | ||||||
| Repeat | 4109 – 4211 | 103 | Spectrin 20 | ||||||
| Repeat | 4218 – 4320 | 103 | Spectrin 21 | ||||||
| Repeat | 4327 – 4428 | 102 | Spectrin 22 | ||||||
| Repeat | 4438 – 4544 | 107 | Spectrin 23 | ||||||
| Repeat | 4551 – 4653 | 103 | Spectrin 24 | ||||||
| Repeat | 4660 – 4763 | 104 | Spectrin 25 | ||||||
| Repeat | 4770 – 4872 | 103 | Spectrin 26 | ||||||
| Repeat | 4879 – 4982 | 104 | Spectrin 27 | ||||||
| Repeat | 4989 – 5091 | 103 | Spectrin 28 | ||||||
| Repeat | 5098 – 5201 | 104 | Spectrin 29 | ||||||
| Repeat | 5208 – 5309 | 102 | Spectrin 30 | ||||||
| Repeat | 5316 – 5418 | 103 | Spectrin 31 | ||||||
| Repeat | 5425 – 5555 | 131 | Spectrin 32 | ||||||
| Domain | 5585 – 5620 | 36 | EF-hand 1 | ||||||
| Domain | 5621 – 5656 | 36 | EF-hand 2 | ||||||
| Domain | 5661 – 5739 | 79 | GAR | ||||||
| Calcium binding | 5598 – 5610 | 13 | 1 Potential | ||||||
| Calcium binding | 5634 – 5646 | 13 | 2 Potential | ||||||
| Coiled coil | 1830 – 1936 | 107 | Potential | ||||||
| Coiled coil | 2001 – 2192 | 192 | Potential | ||||||
| Coiled coil | 2282 – 2345 | 64 | Potential | ||||||
| Coiled coil | 2477 – 2507 | 31 | Potential | ||||||
| Coiled coil | 2541 – 2654 | 114 | Potential | ||||||
| Coiled coil | 2686 – 2814 | 129 | Potential | ||||||
| Coiled coil | 2887 – 2919 | 33 | Potential | ||||||
| Coiled coil | 3046 – 3197 | 152 | Potential | ||||||
| Coiled coil | 3262 – 3503 | 242 | Potential | ||||||
| Coiled coil | 3632 – 3666 | 35 | Potential | ||||||
| Coiled coil | 3746 – 3779 | 34 | Potential | ||||||
| Coiled coil | 3920 – 3984 | 65 | Potential | ||||||
| Coiled coil | 4098 – 4168 | 71 | Potential | ||||||
| Coiled coil | 4288 – 4308 | 21 | Potential | ||||||
| Coiled coil | 4354 – 4386 | 33 | Potential | ||||||
| Coiled coil | 4397 – 4433 | 37 | Potential | ||||||
| Coiled coil | 4469 – 4489 | 21 | Potential | ||||||
| Coiled coil | 4586 – 4720 | 135 | Potential | ||||||
| Coiled coil | 4845 – 4880 | 36 | Potential | ||||||
| Coiled coil | 4910 – 4939 | 30 | Potential | ||||||
| Coiled coil | 4970 – 5000 | 31 | Potential | ||||||
| Coiled coil | 5409 – 5437 | 29 | Potential | ||||||
| Coiled coil | 5546 – 5569 | 24 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1554 | 1 | Phosphotyrosine Ref.5 | ||||||
| Modified residue | 2362 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 2576 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 2577 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 2579 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 2930 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 2931 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 2956 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 4754 | 1 | N6-acetyllysine Ref.8 | ||||||
| Modified residue | 5627 | 1 | Phosphothreonine Ref.3 | ||||||
| Modified residue | 5797 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 5801 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 5804 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 5823 | 1 | Phosphothreonine Ref.4 | ||||||
| Modified residue | 5842 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Natural variant | 39 | 1 | I → V. Corresponds to variant rs16826069 [ dbSNP | Ensembl ]. | VAR_055623 | |||||
| Natural variant | 498 | 1 | T → I. Corresponds to variant rs16826072 [ dbSNP | Ensembl ]. | VAR_055624 | |||||
| Natural variant | 916 | 1 | A → G. Corresponds to variant rs10047195 [ dbSNP | Ensembl ]. | VAR_055625 | |||||
| Natural variant | 1625 | 1 | K → N. Corresponds to variant rs41270807 [ dbSNP | Ensembl ]. | VAR_061083 | |||||
| Natural variant | 1743 | 1 | K → T. Corresponds to variant rs17570718 [ dbSNP | Ensembl ]. | VAR_055626 | |||||
| Natural variant | 2792 | 1 | M → V. Corresponds to variant rs2296172 [ dbSNP | Ensembl ]. | VAR_055627 | |||||
| Natural variant | 4745 | 1 | K → R. Corresponds to variant rs682351 [ dbSNP | Ensembl ]. | VAR_055628 | |||||
| Natural variant | 4852 | 1 | A → T. Corresponds to variant rs587404 [ dbSNP | Ensembl ]. | VAR_055629 | |||||
| Natural variant | 5172 | 1 | S → T. Ref.1 Corresponds to variant rs668556 [ dbSNP | Ensembl ]. | VAR_063125 | |||||
| Natural variant | 5296 | 1 | T → I. Corresponds to variant rs2296174 [ dbSNP | Ensembl ]. | VAR_055630 | |||||
| Natural variant | 5399 | 1 | I → V. Corresponds to variant rs12068423 [ dbSNP | Ensembl ]. | VAR_055631 | |||||
Experimental info | |||||||||
| Sequence conflict | 1712 | 1 | P → S in AAL38997. Ref.1 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "MACF1 gene structure: a hybrid of plectin and dystrophin." Gong T.-W.L., Besirli C.G., Lomax M.I. Mamm. Genome 12:852-861(2001) [PubMed: 11845288] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING, TISSUE SPECIFICITY, VARIANT THR-5172. |
| [2] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "Global phosphoproteome analysis on human HepG2 hepatocytes using reversed-phase diagonal LC." Gevaert K., Staes A., Van Damme J., De Groot S., Hugelier K., Demol H., Martens L., Goethals M., Vandekerckhove J. Proteomics 5:3589-3599(2005) [PubMed: 16097034] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-5627, MASS SPECTROMETRY. Tissue: Hepatoma. |
| [4] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-5823, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [5] | "Tyrosine phosphorylated Par3 regulates epithelial tight junction assembly promoted by EGFR signaling." Wang Y., Du D., Fang L., Yang G., Zhang C., Zeng R., Ullrich A., Lottspeich F., Chen Z. EMBO J. 25:5058-5070(2006) [PubMed: 17053785] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-1554, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [6] | "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry." Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A. Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2576; SER-2577 AND SER-2579, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2362; SER-2930; SER-2931; SER-2956; SER-5797; SER-5801; THR-5804 AND SER-5842, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-4754, MASS SPECTROMETRY. |
| [9] | "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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF317696 mRNA. Translation: AAL09459.1. AF325341 AF325340 Genomic DNA. Translation: AAL38997.1.AL442071, AL137853, AL365277 Genomic DNA. Translation: CAH73671.1. AL365277, AL137853, AL442071 Genomic DNA. Translation: CAI16422.1. AL137853, AL365277, AL442071 Genomic DNA. Translation: CAI21816.1. |
| IPI | IPI00432363. |
| RefSeq | NP_036222.3. NM_012090.4. |
| UniGene | Hs.472475. |
3D structure databases | |
| ProteinModelPortal | Q96PK2. |
| SMR | Q96PK2. Positions 1-354, 735-1198, 3780-3953, 4624-4872, 4953-5092, 5208-5418, 5574-5651, 5658-5761. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-50616N. |
| IntAct | Q96PK2. 4 interactions. |
| STRING | Q96PK2. |
PTM databases | |
| PhosphoSite | Q96PK2. |
Polymorphism databases | |
| DMDM | 296434581. |
Proteomic databases | |
| PRIDE | Q96PK2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000289893; ENSP00000289893; ENSG00000127603. |
| GeneID | 23499. |
| KEGG | hsa:23499. |
Organism-specific databases | |
| CTD | 23499. |
| GeneCards | GC01P039546. |
| H-InvDB | HIX0000455. |
| HGNC | HGNC:13664. MACF1. |
| HPA | HPA013713. |
| MIM | 608271. gene. |
| neXtProt | NX_Q96PK2. |
| PharmGKB | PA30518. |
| HUGE | Search... Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00600000084106. |
| HOGENOM | HBG716327. |
| HOVERGEN | HBG031127. |
| PhylomeDB | Q96PK2. |
Gene expression databases | |
| ArrayExpress | Q96PK2. |
| Bgee | Q96PK2. |
| CleanEx | HS_MACF1. |
| Genevestigator | Q96PK2. |
| GermOnline | ENSG00000127603. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR018249. EF_HAND_2. IPR002048. EF_hand_Ca-bd. IPR003108. GAS2_dom. IPR001101. Plectin_repeat. IPR018159. Spectrin/alpha-actinin. IPR002017. Spectrin_repeat. [Graphical view] |
| Gene3D | G3DSA:1.10.238.10. EF-Hand_type. 1 hit. G3DSA:3.30.920.20. GAS2_dom. 1 hit. |
| Pfam | PF02187. GAS2. 1 hit. PF00681. Plectin. 11 hits. PF00435. Spectrin. 18 hits. [Graphical view] |
| SMART | SM00054. EFh. 2 hits. SM00243. GAS2. 1 hit. SM00250. PLEC. 19 hits. SM00150. SPEC. 30 hits. [Graphical view] |
| SUPFAM | SSF143575. SSF143575. 1 hit. |
| PROSITE | PS00018. EF_HAND_1. 2 hits. PS50222. EF_HAND_2. 2 hits. PS51460. GAR. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 45871. |
| SOURCE | Search... |
Entry information
| Entry name | MACF4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96PK2 Secondary accession number(s): B1ALC5, Q8WXY1 | ||||||||
| Entry history |
| ||||||||
| 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 1 Human chromosome 1: 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