Q03001 (DYST_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 150.
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: Dystonin Alternative name(s): 230 kDa bullous pemphigoid antigen 230/240 kDa bullous pemphigoid antigen Bullous pemphigoid antigen 1 Short name=BPA Short name=Bullous pemphigoid antigen Dystonia musculorum protein Hemidesmosomal plaque protein | ||||
| Gene names |
| ||||
| 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 | 7570 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Ref.7 Ref.20 Ref.23 Isoform 3: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity. Ref.7 Ref.20 Ref.23 Isoform 6: required for bundling actin filaments around the nucleus By similarity. Ref.7 Ref.20 Ref.23 Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Ref.7 Ref.20 Ref.23 |
| Subunit structure | Homodimer. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Interacts with the neuronal intermediate filament protein, PRPH. Interacts with DES. Interacts with SYNE3 By similarity. Isoform 1 and isoform 6 can homodimerize (via N-terminus). Isoform 1 interacts (via N-terminus) with ACTN2. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Isoform 3 interacts (via N-terminus) with COL17A1 (via cytoplasmic region). Isoform 3 interacts (via N-terminus) with ITGB4 isoform beta-4a (via cytoplasmic region). Isoform 3 interacts (via N-terminus) with ERBB2IP (via C-terminus). Isoform 3 associates (via C-terminal) with KRT5-KRT14 (via rod region) intermadiate filaments of keratins. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with TMIGD2. Ref.17 Ref.19 Ref.20 Ref.24 Ref.28 |
| Subcellular location | Cytoplasm › cytoskeleton. Note: Associates with intermediate filaments, acin and microtubule cytoskeletons. Localizes to actin stress fibers and to actin-rich ruffling at the cortex of cells By similarity. Associated at the growing distal tip of microtubules. Ref.3 Ref.7 Ref.20 Ref.21 Ref.23 Ref.24 Isoform 1: Cytoplasm › cytoskeleton By similarity. Cytoplasm › myofibril › sarcomere › Z line. Cytoplasm › myofibril › sarcomere › H zone By similarity. Note: Localizes to microtubules and actin microfilaments throughout the cytoplasm and at focal contact attachments at the plasma membrane By similarity. Ref.3 Ref.7 Ref.20 Ref.21 Ref.23 Ref.24 Isoform 2: Cytoplasm › cytoskeleton By similarity. Note: Colocalizes both cortical and cytoplasmic actin filaments By similarity. Ref.3 Ref.7 Ref.20 Ref.21 Ref.23 Ref.24 Isoform 3: Cytoplasm › cytoskeleton. Cell junction › hemidesmosome. Note: Localizes to actin and intermediate filaments cytoskeletons By similarity. Colocalizes with the epidermal KRT5-KRT14 intermediate filaments network of keratins. Colocalizes with ITGB4 at the leading edge of migrating keratinocytes. Ref.3 Ref.7 Ref.20 Ref.21 Ref.23 Ref.24 Isoform 6: Nucleus By similarity. Nucleus envelope. Membrane; Single-pass membrane protein By similarity. Endoplasmic reticulum membrane; Single-pass membrane protein By similarity. Cytoplasm › cytoskeleton. Membrane; Single-pass membrane protein. Note: Localizes to actin and intermediate filaments cytoskeletons. Localizes to central actin stress fibers around the nucleus and is excluded form focal contact sites in myoblast cells. Translocates to the nucleus By similarity. Associates with actin cytoskeleton in sensory neurons. Ref.3 Ref.7 Ref.20 Ref.21 Ref.23 Ref.24 Isoform 7: Cytoplasm › cytoskeleton. Cell projection › axon. Membrane. Note: Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons. Ref.3 Ref.7 Ref.20 Ref.21 Ref.23 Ref.24 Isoform 8: Cytoplasm › cytoskeleton By similarity. Cytoplasm › cell cortex By similarity. Cell membrane; Lipid-anchor By similarity Ref.3 Ref.7 Ref.20 Ref.21 Ref.23 Ref.24. |
| Tissue specificity | Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin. Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes. Ref.3 Ref.16 Ref.24 |
| Domain | Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermedaite filaments proteins and most likely involves recognition sites located in the rod domain of these keratins. Ref.18 Ref.29 The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends. Ref.18 Ref.29 |
| Involvement in disease | Hereditary sensory and autonomic neuropathy 6 (HSAN6) [MIM:614653]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection. |
| Sequence similarities | Contains 1 actin-binding domain. Contains 2 CH (calponin-homology) domains. Contains 2 EF-hand domains. Contains 1 GAR domain. Contains 5 plectin repeats. Contains 1 SH3 domain. Contains 20 spectrin repeats. |
| Sequence caution | The sequence AAA35538.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the C-terminal part. The sequence AAA57185.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAB70870.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC04449.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC04848.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence CAI14341.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI14989.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI16609.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI16610.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI20330.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI20332.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI22044.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI22045.1 differs from that shown. Reason: Erroneous gene model prediction. Isoform 6: The sequence AAC50244.1 differs from that shown. Reason: Frameshift at position 51. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| APPL1 | Q9UKG1 | 3 | EBI-310758,EBI-741243 | |
| DISC1 | Q9NRI5 | 5 | EBI-310758,EBI-529989 | |
| MAPRE1 | Q15691 | 2 | EBI-310758,EBI-1004115 | |
| OPTN | Q96CV9 | 2 | EBI-310758,EBI-748974 |
Alternative products
| This entry describes 8 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q03001-7) Also known as: BPAG1-b; 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. | ||||||
| Note: No experimental confirmation available. Derived from EST data. | ||||||
| Isoform 2 (identifier: Q03001-8) Also known as: BPAG1-a; BPAG1eA; Dystonin-1; eA; The sequence of this isoform differs from the canonical sequence as follows: 1-381: MAGYLSPAAY...REKALRPEVE → MHSSSYSYRS...SFGSESFDGH 1550-3635: Missing. 7352-7375: Missing. 7442-7442: K → KILHPLTRNYGKPWLTNSKMSTPCKAAECSDFPVPSAE | ||||||
| Isoform 3 (identifier: Q03001-3) Also known as: BPAG1e; eBPAG1; The sequence of this isoform differs from the canonical sequence as follows: 1-381: MAGYLSPAAY...REKALRPEVE → MHSSSYSYRS...SFGSESFDGH 1433-1433: K → IKRCKETSEH...TGISSLYYSS 1434-7570: Missing. | ||||||
| Note: Contains a phosphothreonine at position 1129. Contains a phosphoserine at position 1565 (By similarity). | ||||||
| Isoform 4 (identifier: Q03001-9) Also known as: BPAG1eA; eB; The sequence of this isoform differs from the canonical sequence as follows: 1-381: MAGYLSPAAY...REKALRPEVE → MHSSSYSYRS...SFGSESFDGH 3387-7570: Missing. | ||||||
| Note: Incomplete sequence. | ||||||
| Isoform 5 (identifier: Q03001-10) The sequence of this isoform differs from the canonical sequence as follows: 1-3753: Missing. 4184-4200: GQVPLNSTALQDIISKN → DVGTGYCRSSEQYKCHE 4201-7570: Missing. | ||||||
| Note: Incomplete sequence. No experimental confirmation available. Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 6 (identifier: Q03001-11) Also known as: BPAG1n1; BPAG1n2; Dystonin-2; The sequence of this isoform differs from the canonical sequence as follows: 1-30: MAGYLSPAAYLYVEEQEYLQAYEDVLERYK → MIAAAFLVLL...PAERAVLRIA 47-7570: Missing. | ||||||
| Note: Incomplete sequence. Transmembrane protein (helical transmembrane domain from amino acid 18 to 38). Contains a phosphoserine at position 170. | ||||||
| Isoform 7 (identifier: Q03001-12) Also known as: BPAG1n3; The sequence of this isoform differs from the canonical sequence as follows: 1-138: MAGYLSPAAY...LIWTIILHFQ → MQHSIFSLKKKRCHSLYTSMSSVSKDTDGNE 189-7570: Missing. | ||||||
| Note: Incomplete sequence. | ||||||
| Isoform 8 (identifier: Q03001-13) The sequence of this isoform differs from the canonical sequence as follows: 1-138: MAGYLSPAAY...LIWTIILHFQ → MGNVCGCVRA...SVSKDTDGNE 778-789: AYRAAMQTQWSW → VKLESVMVLVEY 790-7570: Missing. | ||||||
| Note: Probably myristoylated on Gly-2 (By similarity). Probably S-palmitoylated on Cys-5 and Cys-7 (By similarity). |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 7570 | 7570 | Dystonin | PRO_0000078138 | |||||
Regions | |||||||||
| Domain | 35 – 252 | 218 | Actin-binding | ||||||
| Domain | 35 – 138 | 104 | CH 1 | ||||||
| Domain | 151 – 252 | 102 | CH 2 | ||||||
| Repeat | 701 – 797 | 97 | Spectrin 1 | ||||||
| Domain | 890 – 942 | 53 | SH3 | ||||||
| Repeat | 1584 – 1626 | 43 | Plectin 1 | ||||||
| Repeat | 1660 – 1703 | 44 | Plectin 2 | ||||||
| Repeat | 1774 – 1817 | 44 | Plectin 3 | ||||||
| Repeat | 1818 – 1855 | 38 | Plectin 4 | ||||||
| Repeat | 1856 – 1891 | 36 | Plectin 5 | ||||||
| Repeat | 3924 – 4000 | 77 | Spectrin 2 | ||||||
| Repeat | 4069 – 4153 | 85 | Spectrin 3 | ||||||
| Repeat | 4514 – 4622 | 109 | Spectrin 4 | ||||||
| Repeat | 4626 – 4731 | 106 | Spectrin 5 | ||||||
| Repeat | 4849 – 4952 | 104 | Spectrin 6 | ||||||
| Repeat | 5281 – 5389 | 109 | Spectrin 7 | ||||||
| Repeat | 5396 – 5497 | 102 | Spectrin 8 | ||||||
| Repeat | 5504 – 5606 | 103 | Spectrin 9 | ||||||
| Repeat | 5829 – 5933 | 105 | Spectrin 10 | ||||||
| Repeat | 5940 – 6042 | 103 | Spectrin 11 | ||||||
| Repeat | 6048 – 6154 | 107 | Spectrin 12 | ||||||
| Repeat | 6184 – 6264 | 81 | Spectrin 13 | ||||||
| Repeat | 6270 – 6373 | 104 | Spectrin 14 | ||||||
| Repeat | 6379 – 6481 | 103 | Spectrin 15 | ||||||
| Repeat | 6490 – 6592 | 103 | Spectrin 16 | ||||||
| Repeat | 6597 – 6700 | 104 | Spectrin 17 | ||||||
| Repeat | 6705 – 6811 | 107 | Spectrin 18 | ||||||
| Repeat | 6818 – 6918 | 101 | Spectrin 19 | ||||||
| Repeat | 6923 – 7026 | 104 | Spectrin 20 | ||||||
| Domain | 7197 – 7232 | 36 | EF-hand 1 | ||||||
| Domain | 7233 – 7268 | 36 | EF-hand 2 | ||||||
| Domain | 7273 – 7351 | 79 | GAR | ||||||
| Calcium binding | 7210 – 7221 | 12 | 1 Potential | ||||||
| Calcium binding | 7246 – 7257 | 12 | 2 Potential | ||||||
| Motif | 1383 – 1389 | 7 | Nuclear localization signal; in isoform 6 By similarity | ||||||
| Motif | 7550 – 7553 | 4 | Microtubule tip localization signal | ||||||
| Compositional bias | 2394 – 2431 | 38 | Asp-rich | ||||||
| Compositional bias | 2592 – 2599 | 8 | Poly-Asp | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2919 | 1 | Phosphoserine Ref.26 | ||||||
| Modified residue | 7364 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 7432 | 1 | Phosphoserine Ref.22 | ||||||
| Cross-link | 5470 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) | |||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 3753 | 3753 | Missing in isoform 5. | VSP_041524 | |||||
| Alternative sequence | 1 – 381 | 381 | MAGYL…RPEVE → MHSSSYSYRSSDSVFSNTTS TRTSLDSNENLLLVHCGPTL INSCISFGSESFDGH in isoform 2, isoform 3 and isoform 4. | VSP_041525 | |||||
| Alternative sequence | 1 – 138 | 138 | MAGYL…ILHFQ → MQHSIFSLKKKRCHSLYTSM SSVSKDTDGNE in isoform 7. | VSP_041526 | |||||
| Alternative sequence | 1 – 138 | 138 | MAGYL…ILHFQ → MGNVCGCVRAEKEEQYVDPA KTPLNPEKYSPGRKYFRRKP IKKTGGDKESVGANNENEGK KKSSSQPSKEQPAPLSRGLV QQESVTLNSALGDGIQQKKT EVVADSVKQKLLPSAVSSWS DCVNTSPAKDSETEVKVSEL DERISEKDSTPYCAKRKKHL DDVNTSEITFQEKTDVFSFR KAASLSSIPSGIERSLEKGG FPEDPPKSYSSIQEKQNTER FCPHATQHFQFKKKRCHSLY TSMSSVSKDTDGNE in isoform 8. | VSP_041527 | |||||
| Alternative sequence | 1 – 30 | 30 | MAGYL…LERYK → MIAAAFLVLLRPYSIQCALF LLLLLLGTIATIVFFCCWHR KLQKGRHPMKSVFSGRSRSR DAVLRSHHFRSEGFRASPRH LRRRVAAAAAARLEEVKPVV EVHHQSEQETSVRKRRIKKS SRVQPEFYHSVQGASIRRPS SGNASYRCSMSSSADFSDED DFSQKSGSASPAPGDTLPWN LPKHERSKRKIQGGSVLDPA ERAVLRIA in isoform 6. | VSP_041528 | |||||
| Alternative sequence | 47 – 7570 | 7524 | Missing in isoform 6. | VSP_041529 | |||||
| Alternative sequence | 189 – 7570 | 7382 | Missing in isoform 7. | VSP_041530 | |||||
| Alternative sequence | 778 – 789 | 12 | AYRAA…TQWSW → VKLESVMVLVEY in isoform 8. | VSP_041531 | |||||
| Alternative sequence | 790 – 7570 | 6781 | Missing in isoform 8. | VSP_041532 | |||||
| Alternative sequence | 1433 | 1 | K → IKRCKETSEHGAYSDLLQRQ KATVLENSKLTGKISELERM VAELKKQKSRVEEELPKVRE AAENELRKQQRNVEDISLQK IRAESEAKQYRRELETIVRE KEAAERELERVRQLTIEAEA KRAAVEENLLNFRNQLEENT FTRRTLEDHLKRKDLSLNDL EQQKNKLMEELRRKRDNEEE LLKLIKQMEKDLAFQKQVAE KQLKEKQKIELEARRKITEI QYTCRENALPVCPITQATSC RAVTGLQQEHDKQKAEELKQ QVDELTAANRKAEQDMRELT YELNALQLEKTSSEEKARLL KDKLDETNNTLRCLKLELER KDQAEKGYSQQLRELGRQLN QTTGKAEEAMQEASDLKKIK RNYQLELESLNHEKGKLQRE VDRITRAHAVAEKNIQHLNS QIHSFRDEKELERLQICQRK SDHLKEQFEKSHEQLLQNIK AEKENNDKIQRLNEELEKSN ECAEMLKQKVEELTRQNNET KLMMQRIQAESENIVLEKQT IQQRCEALKIQADGFKDQLR STNEHLHKQTKTEQDFQRKI KCLEEDLAKSQNLVSEFKQK CDQQNIIIQNTKKEVRNLNA ELNASKEEKRRGEQKVQLQQ AQVQELNNRLKKVQDELHLK TIEEQMTHRKMVLFQEESGK FKQSAEEFRKKMEKLMESKV ITENDISGIRLDFVSLQQEN SRAQENAKLCETNIKELERQ LQQYREQMQQGQHMEANHYQ KCQKLEDELIAQKREVENLK QKMDQQIKEHEHQLVLLQCE IQKKSTAKDCTFKPDFEMTV KECQHSGELSSRNTGHLHPT PRSPLLRWTQEPQPLEEKWQ HRVVEQIPKEVQFQPPGAPL EKEKSQQCYSEYFSQTSTEL QITFDETNPITRLSEIEKIR DQALNNSRPPVRYQDNACEM ELVKVLTPLEIAKNKQYDMH TEVTTLKQEKNPVPSAEEWM LEGCRASGGLKKGDFLKKGL EPETFQNFDGDHACSVRDDE FKFQGLRHTVTARQLVEAKL LDMRTIEQLRLGLKTVEEVQ KTLNKFLTKATSIAGLYLES TKEKISFASAAERIIIDKMV ALAFLEAQAATGFIIDPISG QTYSVEDAVLKGVVDPEFRI RLLEAEKAAVGYSYSSKTLS VFQAMENRMLDRQKGKHILE AQIASGGVIDPVRGIRVPPE IALQQGLLNNAILQFLHEPS SNTRVFPNPNNKQALYYSEL LRMCVFDVESQCFLFPFGER NISNLNVKKTHRISVVDTKT GSELTVYEAFQRNLIEKSIY LELSGQQYQWKEAMFFESYG HSSHMLTDTKTGLHFNINEA IEQGTIDKALVKKYQEGLIT LTELADSLLSRLVPKKDLHS PVAGYWLTASGERISVLKAS RRNLVDRITALRCLEAQVST GGIIDPLTGKKYRVAEALHR GLVDEGFAQQLRQCELVITG IGHPITNKMMSVVEAVNANI INKEMGIRCLEFQYLTGGLI EPQVHSRLSIEEALQVGIID VLIATKLKDQKSYVRNIICP QTKRKLTYKEALEKADFDFH TGLKLLEVSEPLMTGISSLY YSS in isoform 3. | VSP_041533 | |||||
| Alternative sequence | 1434 – 7570 | 6137 | Missing in isoform 3. | VSP_041534 | |||||
| Alternative sequence | 1550 – 3635 | 2086 | Missing in isoform 2. | VSP_041535 | |||||
| Alternative sequence | 3387 – 7570 | 4184 | Missing in isoform 4. | VSP_041536 | |||||
| Alternative sequence | 4184 – 4200 | 17 | GQVPL…IISKN → DVGTGYCRSSEQYKCHE in isoform 5. | VSP_041537 | |||||
| Alternative sequence | 4201 – 7570 | 3370 | Missing in isoform 5. | VSP_041538 | |||||
| Alternative sequence | 7352 – 7375 | 24 | Missing in isoform 2. | VSP_041539 | |||||
| Alternative sequence | 7442 | 1 | K → KILHPLTRNYGKPWLTNSKM STPCKAAECSDFPVPSAE in isoform 2. | VSP_041540 | |||||
| Natural variant | 1319 | 1 | N → K. Corresponds to variant rs35014998 [ dbSNP | Ensembl ]. | VAR_063045 | |||||
| Natural variant | 2332 | 1 | Q → R. Corresponds to variant rs16888053 [ dbSNP | Ensembl ]. | VAR_063046 | |||||
| Natural variant | 3720 | 1 | Q → R. Corresponds to variant rs4712138 [ dbSNP | Ensembl ]. | VAR_063047 | |||||
| Natural variant | 5138 | 1 | T → A. Ref.4 Corresponds to variant rs4715631 [ dbSNP | Ensembl ]. | VAR_063048 | |||||
Experimental info | |||||||||
| Mutagenesis | 7548 | 1 | K → Q: Loss of interaction with MAPRE1 and association with microtubule growing ends. Ref.29 | ||||||
| Mutagenesis | 7550 | 1 | S → A or N: Loss of association with microtubule growing ends. Ref.29 | ||||||
| Mutagenesis | 7552 | 1 | I → N: Loss of interaction with MAPRE1 and association with the growing microtubule plus ends; when associated with N-7553. Ref.29 | ||||||
| Mutagenesis | 7553 | 1 | P → N: Loss of interaction with MAPRE1 and association with the growing microtubule plus ends; when associated with N-7552. Ref.29 | ||||||
| Mutagenesis | 7557 | 1 | R → N: Loss of interaction with MAPRE1 and association with the growing microtubule plus ends. | ||||||
| Mutagenesis | 7558 | 1 | K → N: Loss of interaction with MAPRE1 and association with the growing microtubule plus ends. | ||||||
| Sequence conflict | 573 | 1 | P → A in BAH12207. Ref.4 | ||||||
| Sequence conflict | 1177 | 1 | V → G in M69225. Ref.1 | ||||||
| Sequence conflict | 1177 | 1 | V → G in AAL62061. Ref.3 | ||||||
| Sequence conflict | 1177 | 1 | V → G in AAL62062. Ref.3 | ||||||
| Sequence conflict | 1363 | 1 | K → E in AAL62061. Ref.3 | ||||||
| Sequence conflict | 4703 | 1 | R → H in BAC04449. Ref.4 | ||||||
| Sequence conflict | 4935 | 1 | N → S in BAC04449. Ref.4 | ||||||
| Sequence conflict | 5030 | 1 | E → G in AAL62061. Ref.3 | ||||||
| Sequence conflict | 5177 | 1 | Q → R in AAL62061. Ref.3 | ||||||
| Sequence conflict | 5225 | 1 | M → I in BAB70870. Ref.4 | ||||||
| Sequence conflict | 5299 | 1 | K → R in AAL62061. Ref.3 | ||||||
| Sequence conflict | 5823 | 1 | I → V in AAL62061. Ref.3 | ||||||
| Sequence conflict | 5882 | 1 | K → R in AAL62061. Ref.3 | ||||||
| Sequence conflict | 5986 | 1 | L → S in AAL62061. Ref.3 | ||||||
| Sequence conflict | 6080 | 1 | K → E in BAC04848. Ref.4 | ||||||
| Sequence conflict | 6186 | 1 | D → G in AAL62061. Ref.3 | ||||||
| Sequence conflict | 6440 | 1 | A → G in AAL62061. Ref.3 | ||||||
| Isoform 3: | |||||||||
| Sequence conflict | 1644 | 1 | R → T in M69225. Ref.1 | ||||||
| Sequence conflict | 2364 | 1 | S → T in M69225. Ref.1 | ||||||
| Sequence conflict | 2495 | 1 | G → V in M69225. Ref.1 | ||||||
| Sequence conflict | 2543 | 1 | N → K in M69225. Ref.1 | ||||||
| Sequence conflict | 2621 | 1 | A → P in M69225. Ref.1 | ||||||
| Sequence conflict | 1943 | 1 | G → R in CAA41528. Ref.13 | ||||||
| Isoform 6: | |||||||||
| Sequence conflict | 48 | 1 | P → L in AAC50244. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains." Sawamura D., Li K., Chu M.-L., Uitto J. J. Biol. Chem. 266:17784-17790(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), DISEASE. Tissue: Keratinocyte. |
| [2] | "Cloning of the 5' mRNA for the 230-kD bullous pemphigoid antigen by rapid amplification of cDNA ends." Elgart G.W., Stanley J.R. J. Invest. Dermatol. 101:244-246(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Keratinocyte. |
| [3] | "Novel alternative splicings of BPAG1 (bullous pemphigoid antigen 1) including the domain structure closely related to MACF (microtubule actin cross-linking factor)." Okumura M., Yamakawa H., Ohara O., Owaribe K. J. Biol. Chem. 277:6682-6687(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [MRNA] OF 1-3386 (ISOFORM 4), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Keratinocyte. |
| [4] | "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 8), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4114-6568 (ISOFORM 1), VARIANT ALA-5138. Tissue: Brain, Hippocampus, Placenta and Tongue. |
| [5] | "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]. |
| [6] | "Cloning and characterization of the neural isoforms of human dystonin." Brown A., Dalpe G., Mathieu M., Kothary R. Genomics 29:777-780(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-461 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 1-46 (ISOFORM 6). Tissue: Fetal brain and Retina. |
| [7] | "Integrators of the cytoskeleton that stabilize microtubules." Yang Y., Bauer C., Strasser G., Wollman R., Julien J.P., Fuchs E. Cell 98:229-238(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-188 (ISOFORM 7), ALTERNATIVE SPLICING (ISOFORMS 6 AND 7), FUNCTION OF ISOFORMS 6 AND 7, SUBCELLULAR LOCATION (ISOFORMS 6 AND 7). Tissue: Fetal brain. |
| [8] | Geerts D., Sonnenberg A. Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 208-308 (ISOFORM 1). Tissue: Pineal gland. |
| [9] | "Comparison of molecularly cloned bullous pemphigoid antigen to desmoplakin I confirms that they define a new family of cell adhesion junction plaque proteins." Tanaka T., Parry D.A.D., Klaus-Kovtun V., Steinert P.M., Stanley J.R. J. Biol. Chem. 266:12555-12559(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 881-7570 (ISOFORM 3). Tissue: Keratinocyte. |
| [10] | "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 3754-7570 (ISOFORM 5). Tissue: Duodenum. |
| [11] | "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5947-7570 (ISOFORM 2). Tissue: Brain. |
| [12] | "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. |
| [13] | "Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies." Stanley J.R., Tanaka T., Mueller S., Klaus-Kovtun V., Roop D. J. Clin. Invest. 82:1864-1870(1988) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Keratinocyte. |
| [14] | "The hemidesmosomal plaque. I. Characterization of a major constituent protein as a differentiation marker for certain forms of epithelia." Owaribe K., Kartenbeck J., Stumpp S., Magin T.M., Krieg T., Diaz L.A., Franke W.W. Differentiation 45:207-220(1990) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). |
| [15] | "Identification of a second protein product of the gene encoding a human epidermal autoantigen." Hopkinson S.B., Jones J.C. Biochem. J. 300:851-857(1994) [PubMed] [Europe PMC] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 3). |
| [16] | "An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments." Yang Y., Dowling J., Yu Q.C., Kouklis P., Cleveland D.W., Fuchs E. Cell 86:655-665(1996) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 3 AND 6), TISSUE SPECIFICITY. |
| [17] | "The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome." Hopkinson S.B., Jones J.C. Mol. Biol. Cell 11:277-286(2000) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 3), INTERACTION WITH COL17A1 AND ITGB4. |
| [18] | "Structural analysis of the predicted coiled-coil rod domain of the cytoplasmic bullous pemphigoid antigen (BPAG1). Empirical localization of the N-terminal globular domain-rod boundary." Tang H.-Y., Chaffotte A.-F., Thacher S.M. J. Biol. Chem. 271:9716-9722(1996) [PubMed] [Europe PMC] [Abstract] Cited for: DOMAINS. |
| [19] | "The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression." Favre B., Fontao L., Koster J., Shafaatian R., Jaunin F., Saurat J.-H., Sonnenberg A., Borradori L. J. Biol. Chem. 276:32427-32436(2001) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH ITGB4 AND ERBB2IP. |
| [20] | "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly." Koster J., Geerts D., Favre B., Borradori L., Sonnenberg A. J. Cell Sci. 116:387-399(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 3), FUNCTION OF ISOFORM 3, INTERACTION WITH COL17A1 AND ITGB4, SUBCELLULAR LOCATION (ISOFORM 3). |
| [21] | "Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus." Fontao L., Favre B., Riou S., Geerts D., Jaunin F., Saurat J.H., Green K.J., Sonnenberg A., Borradori L. Mol. Biol. Cell 14:1978-1992(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 3), ASSOCIATION WITH KERATIN FILAMENTS, SUBCELLULAR LOCATION (ISOFORM 3). |
| [22] | "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-7432, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [23] | "BPAG1e maintains keratinocyte polarity through beta4 integrin-mediated modulation of Rac1 and cofilin activities." Hamill K.J., Hopkinson S.B., DeBiase P., Jones J.C. Mol. Biol. Cell 20:2954-2962(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 3), FUNCTION OF ISOFORM 3, SUBCELLULAR LOCATION (ISOFORM 3). |
| [24] | "BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin." Steiner-Champliaud M.F., Schneider Y., Favre B., Paulhe F., Praetzel-Wunder S., Faulkner G., Konieczny P., Raith M., Wiche G., Adebola A., Liem R.K., Langbein L., Sonnenberg A., Fontao L., Borradori L. Exp. Cell Res. 316:297-313(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORM 1), HOMODIMERIZATION, INTERACTION WITH ACTN2 AND PLEC, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [25] | "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]. |
| [26] | "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-2919, MASS SPECTROMETRY. |
| [27] | "Hereditary sensory autonomic neuropathy caused by a mutation in dystonin." Edvardson S., Cinnamon Y., Jalas C., Shaag A., Maayan C., Axelrod F.B., Elpeleg O. Ann. Neurol. 71:569-572(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN HSAN6. |
| [28] | "Identification of IGPR-1 as a novel adhesion molecule involved in angiogenesis." Rahimi N., Rezazadeh K., Mahoney J.E., Hartsough E., Meyer R.D. Mol. Biol. Cell 23:1646-1656(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH TMIGD2. |
| [29] | "An EB1-binding motif acts as a microtubule tip localization signal." Honnappa S., Gouveia S.M., Weisbrich A., Damberger F.F., Bhavesh N.S., Jawhari H., Grigoriev I., van Rijssel F.J., Buey R.M., Lawera A., Jelesarov I., Winkler F.K., Wuthrich K., Akhmanova A., Steinmetz M.O. Cell 138:366-376(2009) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 7541-7570 IN COMPLEX WITH MAPRE1, DOMAIN MICROTUBULE TIP LOCALIZATION SIGNAL, MUTAGENESIS OF LYS-7548; SER-7550; ILE-7552; PRO-7553 AND 7557-ARG-LYS-7558. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | M69225 mRNA. No translation available. L11690 mRNA. Translation: AAA52288.1. AF400226 mRNA. Translation: AAL62061.1. AF400227 mRNA. Translation: AAL62062.1. AK055189 mRNA. Translation: BAB70870.1. Different initiation. AK094883 mRNA. Translation: BAC04449.1. Different initiation. AK096713 mRNA. Translation: BAC04848.1. Different initiation. AK295864 mRNA. Translation: BAH12207.1. AL049215 Genomic DNA. No translation available. AL512422 AL590005 Genomic DNA. Translation: CAI14341.1. Sequence problems.AL590005 AL512448 Genomic DNA. Translation: CAI14989.1. Sequence problems.AL512448 AL590005 Genomic DNA. Translation: CAI16609.1. Sequence problems.AL512448, AL096710, AL137008 Genomic DNA. Translation: CAI16610.1. Sequence problems. AL137008 AL590005 Genomic DNA. Translation: CAI20330.1. Sequence problems.AL137008, AL096710, AL512448 Genomic DNA. Translation: CAI20332.1. Sequence problems. AL096710 AL590005 Genomic DNA. Translation: CAI22044.1. Sequence problems.AL096710, AL137008, AL512448 Genomic DNA. Translation: CAI22045.1. Sequence problems. AL096710 Genomic DNA. Translation: CAI22046.1. AL096710 Genomic DNA. Translation: CAI22047.1. U31850 mRNA. Translation: AAC50243.1. U31851 mRNA. Translation: AAC50244.1. Frameshift. AF165191 mRNA. Translation: AAD49334.1. AY032900 mRNA. Translation: AAK63130.1. AY032901 mRNA. Translation: AAK63131.1. M63618 mRNA. Translation: AAA35606.1. BC016991 mRNA. Translation: AAH16991.1. AB018271 mRNA. Translation: BAA34448.2. M22942 mRNA. Translation: AAA35538.1. Sequence problems. X58677 mRNA. Translation: CAA41528.1. U04850 Genomic DNA. Translation: AAA57184.1. U04850 Genomic DNA. Translation: AAA57185.1. Sequence problems. | ||||||||||||
| IPI | IPI00142768. IPI00217992. IPI00642259. IPI00816328. IPI00956289. IPI00979196. IPI01018799. IPI01018800. | ||||||||||||
| PIR | A40937. I56317. | ||||||||||||
| RefSeq | NP_001714.1. NM_001723.5. NP_056363.2. NM_015548.4. | ||||||||||||
| UniGene | Hs.604915. Hs.669931. Hs.728928. Hs.735651. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q03001. | ||||||||||||
| SMR | Q03001. Positions 31-255, 583-795. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| DIP | DIP-33131N. | ||||||||||||
| IntAct | Q03001. 24 interactions. | ||||||||||||
| MINT | MINT-119936. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q03001. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 294862529. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q03001. | ||||||||||||
| PRIDE | Q03001. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 667. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000244364; ENSP00000244364; ENSG00000151914. ENST00000370765; ENSP00000359801; ENSG00000151914. ENST00000439203; ENSP00000404924; ENSG00000151914. | ||||||||||||
| GeneID | 667. | ||||||||||||
| KEGG | hsa:667. | ||||||||||||
| UCSC | uc003pcy.4. human. uc003pdc.4. human. uc003pde.2. human. uc021zba.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 667. | ||||||||||||
| GeneCards | GC06M056370. | ||||||||||||
| H-InvDB | HIX0005976. HIX0164999. | ||||||||||||
| HGNC | HGNC:1090. DST. | ||||||||||||
| HPA | HPA030200. | ||||||||||||
| MIM | 113810. gene. 614653. phenotype. | ||||||||||||
| neXtProt | NX_Q03001. | ||||||||||||
| Orphanet | 89838. Autosomal recessive epidermolysis bullosa simplex. | ||||||||||||
| PharmGKB | PA25399. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | COG5069. | ||||||||||||
| HOVERGEN | HBG031127. | ||||||||||||
| InParanoid | Q8WXK8. | ||||||||||||
| KO | K10382. | ||||||||||||
| OMA | QQRNVED. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Reactome | REACT_111155. Cell-Cell communication. REACT_118779. Extracellular matrix organization. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q03001. | ||||||||||||
| Bgee | Q03001. | ||||||||||||
| CleanEx | HS_DST. | ||||||||||||
| Genevestigator | Q03001. | ||||||||||||
| GermOnline | ENSG00000151914. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 1.10.238.10. 1 hit. 1.10.418.10. 2 hits. 3.30.920.20. 1 hit. | ||||||||||||
| InterPro | IPR001589. Actinin_actin-bd_CS. IPR001715. CH-domain. IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom. IPR003108. GAS2_dom. IPR001101. Plectin_repeat. IPR018159. Spectrin/alpha-actinin. IPR002017. Spectrin_repeat. [Graphical view] | ||||||||||||
| Pfam | PF00307. CH. 2 hits. PF13499. EF_hand_5. 1 hit. PF02187. GAS2. 1 hit. PF00681. Plectin. 5 hits. PF00435. Spectrin. 19 hits. [Graphical view] | ||||||||||||
| SMART | SM00033. CH. 2 hits. SM00054. EFh. 2 hits. SM00243. GAS2. 1 hit. SM00250. PLEC. 8 hits. SM00150. SPEC. 32 hits. [Graphical view] | ||||||||||||
| SUPFAM | SSF47576. Calponin-homology. 1 hit. SSF143575. SSF143575. 1 hit. | ||||||||||||
| PROSITE | PS00019. ACTININ_1. 1 hit. PS00020. ACTININ_2. 1 hit. PS50021. CH. 2 hits. PS00018. EF_HAND_1. 2 hits. PS50222. EF_HAND_2. 2 hits. PS51460. GAR. 1 hit. PS50002. SH3. False negative. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| ChiTaRS | DST. human. | ||||||||||||
| EvolutionaryTrace | Q03001. | ||||||||||||
| GenomeRNAi | 667. | ||||||||||||
| NextBio | 2720. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | DYST_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q03001 Secondary accession number(s): B7Z3H1 Q9UN10 | ||||||||
| 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 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
