These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome
annotation cycle, so their versions may not match the RefSeq versions in the current
genome build. Identify version mismatches by comparing the version of the RefSeq in this
section to the one reported in Genomic regions, transcripts, and products above.
Genomic
-
NG_012232.1 RefSeqGene
- Range
- 5001..2225382
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_000109.3 → NP_000100.2 dystrophin Dp427c isoform
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp427c is expressed predominantly in neurons of the cortex and the CA regions of the hippocampus. It uses a unique promoter/exon 1 located about 130 kb upstream of the Dp427m transcript promoter. The transcript includes the common exon 2 of transcript Dp427m and has a similar length of 14 kb. The Dp427c isoform contains a unique N-terminal MED sequence, instead of the MLWWEEVEDCY sequence of isoform Dp427m. The remainder of isoform Dp427c is identical to isoform Dp427m.
- Source sequence(s)
-
AL050305, AL109609, BC028720, BC036103, M18533
- UniProtKB/Swiss-Prot
-
P11532
- UniProtKB/TrEMBL
-
Q4G0X0
- Conserved Domains (8) summary
-
- cd00014
Location:127 – 232
Blast Score: 209
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:2464 – 2680
Blast Score: 190
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3051 – 3080
Blast Score: 116
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3303 – 3351
Blast Score: 271
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- COG1340
Location:1696 – 1971
Blast Score: 110
- COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
- pfam09068
Location:3079 – 3199
Blast Score: 454
- efhand_1; EF hand
- pfam09069
Location:3203 – 3294
Blast Score: 416
- efhand_2; EF-hand
- cl02488
Location:1671 – 1768
Blast Score: 123
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004006.2 → NP_003997.1 dystrophin Dp427m isoform
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp427m encodes the main dystrophin protein found in muscle. As a result of alternative promoter use, exon 1 encodes a unique N-terminal MLWWEEVEDCY aa sequence.
- Source sequence(s)
-
AL031643, AL109609, BC028720, M18533
- Consensus CDS
-
CCDS14233.1
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000354923, OTTHUMP00000023117, ENST00000357033, OTTHUMT00000056182
- Conserved Domains (8) summary
-
- cd00014
Location:135 – 240
Blast Score: 209
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:2472 – 2688
Blast Score: 190
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3059 – 3088
Blast Score: 116
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3311 – 3359
Blast Score: 271
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- COG1340
Location:1704 – 1979
Blast Score: 111
- COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
- pfam09068
Location:3087 – 3207
Blast Score: 454
- efhand_1; EF hand
- pfam09069
Location:3211 – 3302
Blast Score: 416
- efhand_2; EF-hand
- cl02488
Location:1679 – 1776
Blast Score: 123
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004007.2 → NP_003998.1 dystrophin Dp427l isoform
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp427l originates at a unique promoter/exon 1 with splicing to exon 3 of the full length dystrophin (Dp427m) transcript. Consequently, amino acids 1-31 are replaced by a single methionine.
- Source sequence(s)
-
AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL096699, AL109609, AL139278, AL451144, D32048, M18533
- Conserved Domains (8) summary
-
- cd00014
Location:12 – 117
Blast Score: 210
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:2349 – 2565
Blast Score: 188
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:2936 – 2965
Blast Score: 116
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3188 – 3236
Blast Score: 271
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- COG1340
Location:1581 – 1856
Blast Score: 109
- COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
- pfam09068
Location:2964 – 3084
Blast Score: 454
- efhand_1; EF hand
- pfam09069
Location:3088 – 3179
Blast Score: 416
- efhand_2; EF-hand
- cl02488
Location:1556 – 1653
Blast Score: 122
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004009.3 → NP_004000.1 dystrophin Dp427p1 isoform
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp427p1 initiates from a unique promoter/exon 1 located in what corresponds to the first intron of transcript Dp427m. The transcript adds the common exon 2 of Dp427m and has a similar length (14 kb). The Dp427p1 isoform replaces the MLWWEEVEDCY-start of Dp427m with a unique N-terminal MSEVSSD aa sequence.
- Source sequence(s)
-
AL049643, AL109609, BC028720, M18533, S64152
- Consensus CDS
-
CCDS55395.1
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000367948, OTTHUMP00000023121, ENST00000378677, OTTHUMT00000056187
- Conserved Domains (8) summary
-
- cd00014
Location:131 – 236
Blast Score: 209
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:2468 – 2684
Blast Score: 190
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:3055 – 3084
Blast Score: 116
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3307 – 3355
Blast Score: 272
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- COG1340
Location:1700 – 1975
Blast Score: 111
- COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
- pfam09068
Location:3083 – 3203
Blast Score: 454
- efhand_1; EF hand
- pfam09069
Location:3207 – 3298
Blast Score: 416
- efhand_2; EF-hand
- cl02488
Location:1675 – 1772
Blast Score: 123
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004010.3 → NP_004001.1 dystrophin Dp427p2 isoform
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp427p2 has an additional 82 nt directly after exon 1 which introduces a translational stop codon 24 bp downstream of the same ATG codon included in the Dp427p1 transcript. This transcript has unknown coding capacity.
- Source sequence(s)
-
AL049643, AL109609, BC028720, M18533, S64152
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000444221, ENST00000535280
- Conserved Domains (8) summary
-
- cd00014
Location:12 – 117
Blast Score: 210
- CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
- cd00176
Location:2349 – 2565
Blast Score: 188
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:2936 – 2965
Blast Score: 116
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:3188 – 3236
Blast Score: 271
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- COG1340
Location:1581 – 1856
Blast Score: 109
- COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
- pfam09068
Location:2964 – 3084
Blast Score: 454
- efhand_1; EF hand
- pfam09069
Location:3088 – 3179
Blast Score: 416
- efhand_2; EF-hand
- cl02488
Location:1556 – 1653
Blast Score: 122
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004011.3 → NP_004002.2 dystrophin Dp260-1 isoform
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp260-1 uses exons 30-79, and originates from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene. As a result, Dp260-1 contains a 95 bp exon 1 encoding a unique N-terminal 16 aa MTEIILLIFFPAYFLN-sequence that replaces amino acids 1-1357 of the full-length dystrophin product (Dp427m isoform).
- Source sequence(s)
-
AL109609, BC028720, M18533
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000367953, ENST00000378682
- Conserved Domains (4) summary
-
- cd00176
Location:1131 – 1347
Blast Score: 188
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:1718 – 1747
Blast Score: 118
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:1970 – 2018
Blast Score: 272
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- COG1340
Location:363 – 638
Blast Score: 108
- COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
-
NM_004012.3 → NP_004003.1 dystrophin Dp260-2 isoform
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp260-2 uses exons 30-79, starting from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene that is alternatively spliced and lacks N-terminal amino acids 1-1357 of the full length dystrophin (Dp427m isoform). The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence.
- Source sequence(s)
-
AL109609, BC028720, M18533
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000367955, ENST00000378684
- Conserved Domains (7) summary
-
- cd00176
Location:1128 – 1344
Blast Score: 186
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:1715 – 1744
Blast Score: 118
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:1967 – 2015
Blast Score: 272
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- COG1340
Location:360 – 635
Blast Score: 107
- COG1340; Uncharacterized archaeal coiled-coil protein [Function unknown]
- pfam09068
Location:1743 – 1863
Blast Score: 453
- efhand_1; EF hand
- pfam09069
Location:1867 – 1958
Blast Score: 417
- efhand_2; EF-hand
- cl02488
Location:335 – 432
Blast Score: 122
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
-
NM_004013.2 → NP_004004.1 dystrophin Dp140 isoform
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140) contains all of the exons.
- Source sequence(s)
-
BC028720, DA804849, M18533
- Consensus CDS
-
CCDS48091.1
- UniProtKB/TrEMBL
-
A1L0U9
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000367979, ENST00000378707
- Conserved Domains (5) summary
-
- cd00176
Location:12 – 228
Blast Score: 207
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 – 628
Blast Score: 116
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 – 899
Blast Score: 267
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:627 – 747
Blast Score: 451
- efhand_1; EF hand
- pfam09069
Location:751 – 842
Blast Score: 416
- efhand_2; EF-hand
-
NM_004014.2 → NP_004005.1 dystrophin Dp116 isoform
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp116 uses exons 56-79, starting from a promoter/exon 1 within intron 55. As a result, the Dp116 isoform contains a unique N-terminal MLHRKTYHVK aa sequence, instead of aa 1-2739 of dystrophin. Differential splicing produces several Dp116-subtypes. The Dp116 isoform is also known as S-dystrophin or apo-dystrophin-2.
- Source sequence(s)
-
AC079175, BC028720, M18533
- UniProtKB/Swiss-Prot
-
P11532
- Conserved Domains (5) summary
-
- cd00176
Location:206 – 316
Blast Score: 152
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:330 – 359
Blast Score: 117
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:582 – 630
Blast Score: 258
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:358 – 478
Blast Score: 453
- efhand_1; EF hand
- pfam09069
Location:482 – 573
Blast Score: 417
- efhand_2; EF-hand
-
NM_004015.2 → NP_004006.1 dystrophin Dp71 isoform
Status: REVIEWED
- Description
- Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71) includes both exons 71 and 78.
- Source sequence(s)
-
BC028720, BC070078, BC094758
- Consensus CDS
-
CCDS14234.1
- UniProtKB/TrEMBL
-
E9PDN1
- UniProtKB/TrEMBL
-
Q6NSJ9
- Related
- ENSP00000367974, OTTHUMP00000023126, ENST00000378702, OTTHUMT00000056196
- Conserved Domains (4) summary
-
- cd02334
Location:243 – 291
Blast Score: 246
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:19 – 139
Blast Score: 454
- efhand_1; EF hand
- pfam09069
Location:143 – 234
Blast Score: 418
- efhand_2; EF-hand
- cl02600
Location:488 – 530
Blast Score: 83
- HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily
-
NM_004016.2 → NP_004007.1 dystrophin Dp71b isoform
Status: REVIEWED
- Description
- Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71b) lacks exon 78 and encodes a protein with a different C-terminus than Dp71 and Dp71a isoforms.
- Source sequence(s)
-
BC028720, BC094758
- Consensus CDS
-
CCDS14231.1
- Related
- ENSP00000367997, OTTHUMP00000023124, ENST00000378723, OTTHUMT00000056194
- Conserved Domains (4) summary
-
- cd02334
Location:243 – 291
Blast Score: 247
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:19 – 139
Blast Score: 453
- efhand_1; EF hand
- pfam09069
Location:143 – 234
Blast Score: 417
- efhand_2; EF-hand
- cl02600
Location:488 – 530
Blast Score: 84
- HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily
-
NM_004017.2 → NP_004008.1 dystrophin Dp71a isoform
Status: REVIEWED
- Description
- Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71a) lacks exon 71.
- Source sequence(s)
-
BC028720, BC070078, M92650
- UniProtKB/Swiss-Prot
-
P11532
- UniProtKB/TrEMBL
-
Q6NSJ9
- Conserved Domains (4) summary
-
- cd02334
Location:243 – 291
Blast Score: 245
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:19 – 139
Blast Score: 453
- efhand_1; EF hand
- pfam09069
Location:143 – 234
Blast Score: 418
- efhand_2; EF-hand
- cl02600
Location:475 – 517
Blast Score: 83
- HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily
-
NM_004018.2 → NP_004009.1 dystrophin Dp71ab isoform
Status: REVIEWED
- Description
- Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71ab) lacks both exons 71 and 78 and encodes a protein with a C-terminus like isoform Dp71b.
- Source sequence(s)
-
BC028720, DB233002, M92650
- Consensus CDS
-
CCDS14232.1
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000354464, OTTHUMP00000023125, ENST00000361471, OTTHUMT00000056195
- Conserved Domains (4) summary
-
- cd02334
Location:243 – 291
Blast Score: 246
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:19 – 139
Blast Score: 452
- efhand_1; EF hand
- pfam09069
Location:143 – 234
Blast Score: 417
- efhand_2; EF-hand
- cl02600
Location:475 – 517
Blast Score: 83
- HTH_MerR-SF; Helix-Turn-Helix DNA binding domain of transcription regulators from the MerR superfamily
-
NM_004019.2 → NP_004010.1 dystrophin Dp40 isoform
Status: REVIEWED
- Description
- Transcript Variant: transcript Dp40 uses exons 63-70. The 5' UTR and encoded first 7 aa are identical to that in transcript Dp71, but the stop codon lies at the splice junction of the exon/intron 70. The 3' UTR includes nt from intron 70 which includes an alternative polyadenylation site. The Dp40 isoform lacks the normal C-terminal end of full-length dystrophin (aa 3409-3685).
- Source sequence(s)
-
AC078958, M18533, S42206
- UniProtKB/Swiss-Prot
-
P11532
- UniProtKB/TrEMBL
-
Q16484
- Conserved Domains (3) summary
-
- cd02334
Location:243 – 291
Blast Score: 231
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:19 – 139
Blast Score: 448
- efhand_1; EF hand
- pfam09069
Location:143 – 234
Blast Score: 421
- efhand_2; EF-hand
-
NM_004020.3 → NP_004011.2 dystrophin Dp140c isoform
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140c) lacks exons 71-74.
- Source sequence(s)
-
AC078958, BC028720, DA804849, M18533
- Consensus CDS
-
CCDS55394.1
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000444119, ENST00000541735
- Conserved Domains (5) summary
-
- cd00176
Location:12 – 228
Blast Score: 204
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 – 628
Blast Score: 116
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 – 899
Blast Score: 267
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:627 – 747
Blast Score: 449
- efhand_1; EF hand
- pfam09069
Location:751 – 842
Blast Score: 416
- efhand_2; EF-hand
-
NM_004021.2 → NP_004012.1 dystrophin Dp140b isoform
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140b) lacks exon 78 and encodes a protein with a unique C-terminus.
- Source sequence(s)
-
BC028720, DA804849, M18533
- UniProtKB/TrEMBL
-
A7E212
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000417123, OTTHUMP00000215846, ENST00000474231, OTTHUMT00000356267
- Conserved Domains (5) summary
-
- cd00176
Location:12 – 228
Blast Score: 206
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 – 628
Blast Score: 117
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 – 899
Blast Score: 267
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:627 – 747
Blast Score: 451
- efhand_1; EF hand
- pfam09069
Location:751 – 842
Blast Score: 416
- efhand_2; EF-hand
-
NM_004022.2 → NP_004013.1 dystrophin Dp140ab isoform
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140ab) lacks exons 71 and 78 and encodes a protein with a unique C-terminus.
- Source sequence(s)
-
BC028720, DA804849, M18533, M92650
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000352894, ENST00000359836
- Conserved Domains (5) summary
-
- cd00176
Location:12 – 228
Blast Score: 204
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 – 628
Blast Score: 117
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 – 899
Blast Score: 267
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:627 – 747
Blast Score: 450
- efhand_1; EF hand
- pfam09069
Location:751 – 842
Blast Score: 416
- efhand_2; EF-hand
-
NM_004023.2 → NP_004014.1 dystrophin Dp140bc isoform
Status: REVIEWED
- Description
- Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140bc) lacks exons 71-74 and 78 and encodes a protein with a unique C-terminus.
- Source sequence(s)
-
BC028720, DA804849, M18533, M92650
- UniProtKB/Swiss-Prot
-
P11532
- Related
- ENSP00000340057, ENST00000343523
- Conserved Domains (5) summary
-
- cd00176
Location:12 – 228
Blast Score: 203
- SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
- cd00201
Location:599 – 628
Blast Score: 117
- WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
- cd02334
Location:851 – 899
Blast Score: 268
- ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
- pfam09068
Location:627 – 747
Blast Score: 449
- efhand_1; EF hand
- pfam09069
Location:751 – 842
Blast Score: 415
- efhand_2; EF-hand
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs
for chromosomes and scaffolds (contigs) from both reference and alternate assemblies.
Model RNAs and proteins are also reported here.
Reference GRCh37.p5 Primary Assembly
Genomic
-
NC_000023.10 Reference GRCh37.p5 Primary Assembly
- Range
- 31137345..33357726, complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate HuRef
Genomic
-
AC_000155.1 Alternate HuRef
- Range
- 28877768..31095562, complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)