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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_011631.1 RefSeqGene
- Range
-
4954..233856
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_776
mRNA and Protein(s)
-
NM_000248.4 → NP_000239.1 microphthalmia-associated transcription factor isoform 4
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) differs in the 5' UTR, the 5' coding region and uses an alternate, in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (4), also known as isoform MITF-M, has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
-
AC104449, AL117653, AW242257, BQ219650, Z29678
- Consensus CDS
-
CCDS2913.1
- UniProtKB/TrEMBL
-
A0A0H3W5T2
- Related
- ENSP00000377880.3, ENST00000394351.9
- Conserved Domains (3) summary
-
- cd00083
Location:202 → 262
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:290 → 403
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:11 → 87
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_001184967.2 → NP_001171896.1 microphthalmia-associated transcription factor isoform 7
Status: REVIEWED
- Description
- Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.
- Source sequence(s)
-
AC104445, AC104449, AK296129, AL110195, AL117653, AW242257
- Consensus CDS
-
CCDS54607.1
- UniProtKB/TrEMBL
-
A0A0H3W5T2
- Related
- ENSP00000418845.1, ENST00000472437.5
- Conserved Domains (3) summary
-
- cd00083
Location:251 → 311
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:339 → 458
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:4 → 142
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_001184968.2 → NP_001171897.1 microphthalmia-associated transcription factor isoform 8
Status: REVIEWED
- Description
- Transcript Variant: This variant (8) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform 8) is shorter than isoform 1 and has unique N- and C-termini.
- Source sequence(s)
-
AC104449, BC012503, BQ219650
- Consensus CDS
-
CCDS74962.1
- UniProtKB/TrEMBL
- A0A087WXU1, E9PKJ8
- Related
- ENSP00000481286.1, ENST00000394348.2
- Conserved Domains (1) summary
-
- pfam15951
Location:11 → 88
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_001354604.2 → NP_001341533.1 microphthalmia-associated transcription factor isoform 9
Status: REVIEWED
- Source sequence(s)
-
AC099326, AC104445, AC104449
- Consensus CDS
-
CCDS87108.1
- UniProtKB/Swiss-Prot
- B4DJL2, D3K197, E9PFN0, O75030, Q14841, Q9P2V0, Q9P2V1, Q9P2V2, Q9P2Y8
- UniProtKB/TrEMBL
-
A8K5K3
- Related
- ENSP00000295600.8, ENST00000352241.9
- Conserved Domains (3) summary
-
- cd00083
Location:309 → 369
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:397 → 516
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:56 → 194
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_001354605.2 → NP_001341534.1 microphthalmia-associated transcription factor isoform 10
Status: REVIEWED
- Source sequence(s)
-
AC099326, AC104445, AC104449
- UniProtKB/TrEMBL
-
A8K5K3
- Conserved Domains (3) summary
-
- cd00083
Location:308 → 368
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:396 → 515
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:55 → 193
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_001354606.2 → NP_001341535.1 microphthalmia-associated transcription factor isoform 11
Status: REVIEWED
- Source sequence(s)
-
AC099326, AC104445, AC104449
- UniProtKB/TrEMBL
-
A8K5K3
- Conserved Domains (1) summary
-
- cd18926
Location:293 → 396
- bHLHzip_MITF; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in microphthalmia-associated transcription factor (MITF) and similar proteins
-
NM_001354607.2 → NP_001341536.1 microphthalmia-associated transcription factor isoform 12
Status: REVIEWED
- Source sequence(s)
-
AC099326, AC104445, AC104449, AC124915
- Consensus CDS
-
CCDS93308.1
- UniProtKB/TrEMBL
- A0A8I5KSZ4, B4DNC7
- Related
- ENSP00000510225.1, ENST00000687384.1
- Conserved Domains (3) summary
-
- cd00083
Location:286 → 346
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:374 → 493
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:39 → 177
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_001354608.2 → NP_001341537.1 microphthalmia-associated transcription factor isoform 7
Status: REVIEWED
- Description
- Transcript Variant: This variant (13), as well as variant 7, encodes isoform 7.
- Source sequence(s)
-
AC099326, AC104445, AC104449, AC124915
- Consensus CDS
-
CCDS54607.1
- UniProtKB/TrEMBL
-
A0A0H3W5T2
- Conserved Domains (3) summary
-
- cd00083
Location:251 → 311
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:339 → 458
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:4 → 142
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_006722.3 → NP_006713.1 microphthalmia-associated transcription factor isoform 3
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (3), also known as isoform MITF-C, has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
-
AB006988, AC104449, AL110195, AL117653, AW242257
- UniProtKB/TrEMBL
-
B4DNC7
- Related
- ENSP00000391803.3, ENST00000448226.9
- Conserved Domains (3) summary
-
- cd00083
Location:302 → 362
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:390 → 503
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:55 → 193
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_198158.3 → NP_937801.1 microphthalmia-associated transcription factor isoform 5
Status: REVIEWED
- Description
- Transcript Variant: This variant (5) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (5), has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
-
AC104449, AL117653, AW242257, BC026961, BQ219650
- Consensus CDS
-
CCDS43107.1
- UniProtKB/TrEMBL
-
A0A0H3W5T2
- Related
- ENSP00000324246.6, ENST00000314557.10
- Conserved Domains (3) summary
-
- cd00083
Location:196 → 256
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:284 → 403
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:11 → 87
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_198159.3 → NP_937802.1 microphthalmia-associated transcription factor isoform 1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1), also known as isoform MITF-A.
- Source sequence(s)
-
AC104449, AL110195, AL117653, AW242257, DA058963
- Consensus CDS
-
CCDS43106.1
- UniProtKB/TrEMBL
-
A8K5K3
- Related
- ENSP00000494105.1, ENST00000642352.1
- Conserved Domains (3) summary
-
- cd00083
Location:303 → 363
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:391 → 504
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:56 → 194
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_198177.3 → NP_937820.1 microphthalmia-associated transcription factor isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (2), also known as isoform MITF-H, has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
-
AC104449, AK297858, AL110195, AL117653, AW242257, DC388606
- Consensus CDS
-
CCDS46865.1
- UniProtKB/TrEMBL
-
B4DNC7
- Related
- ENSP00000324443.5, ENST00000314589.11
- Conserved Domains (3) summary
-
- cd00083
Location:287 → 347
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:375 → 488
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:40 → 178
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
NM_198178.3 → NP_937821.2 microphthalmia-associated transcription factor isoform 6
Status: REVIEWED
- Description
- Transcript Variant: This variant (6) differs in the 5' UTR and the 5' coding region, and uses two alternate, in-frame splice sites in the coding region compared to variant 1. The resulting isoform (6), also known as isoform MITF-Mdel, has a distinct N-terminus and is shorter than isoform 1.
- Source sequence(s)
-
AC104449, AL117653, AW242257, BQ219650, GU355676
- Consensus CDS
-
CCDS46866.2
- UniProtKB/TrEMBL
-
A0A0H3W5T2
- Related
- ENSP00000435909.1, ENST00000531774.1
- Conserved Domains (3) summary
-
- cd00083
Location:140 → 200
- HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
- pfam11851
Location:228 → 341
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:11 → 31
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
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 GRCh38.p14 Primary Assembly
Genomic
-
NC_000003.12 Reference GRCh38.p14 Primary Assembly
- Range
-
69739464..69968332
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060927.1 Alternate T2T-CHM13v2.0
- Range
-
69776362..70005284
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)