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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_030005.2 RefSeqGene
- Range
-
134133..229744
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_001018058.3 → NP_001018068.1 transcription factor EC isoform b
See identical proteins and their annotated locations for NP_001018068.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter that isoform a.
- Source sequence(s)
-
AC073141, AC096551
- Consensus CDS
-
CCDS34738.1
- UniProtKB/TrEMBL
-
Q75KY0
- Related
- ENSP00000318676.7, ENST00000320239.11
- Conserved Domains (3) summary
-
- cd00083
Location:108 → 168
- 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:196 → 315
- DUF3371; Domain of unknown function (DUF3371)
- cl21462
Location:164 → 195
- bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
-
NM_001244583.2 → NP_001231512.1 transcription factor EC isoform c
See identical proteins and their annotated locations for NP_001231512.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
- Source sequence(s)
-
AC096551, AJ608795, D43945
- Consensus CDS
-
CCDS59076.1
- UniProtKB/TrEMBL
-
Q75KY0
- Related
- ENSP00000387650.1, ENST00000457268.5
- Conserved Domains (2) summary
-
- cd00083
Location:70 → 130
- 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:158 → 265
- DUF3371; Domain of unknown function (DUF3371)
-
NM_012252.4 → NP_036384.1 transcription factor EC isoform a
See identical proteins and their annotated locations for NP_036384.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
- Source sequence(s)
-
AC096551, AK313546
- Consensus CDS
-
CCDS5762.1
- UniProtKB/Swiss-Prot
- B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9
- Related
- ENSP00000265440.7, ENST00000265440.12
- Conserved Domains (3) summary
-
- cd00083
Location:137 → 197
- 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:225 → 344
- DUF3371; Domain of unknown function (DUF3371)
- cl21462
Location:193 → 224
- bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
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_000007.14 Reference GRCh38.p14 Primary Assembly
- Range
-
115935152..116159896 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_011515970.2 → XP_011514272.1 transcription factor EC isoform X3
- Conserved Domains (3) summary
-
- cd00083
Location:198 → 258
- 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:286 → 405
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:6 → 146
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
XM_011515969.2 → XP_011514271.1 transcription factor EC isoform X2
- Conserved Domains (3) summary
-
- cd00083
Location:231 → 268
- 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:296 → 415
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:6 → 155
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
XM_011515963.2 → XP_011514265.1 transcription factor EC isoform X1
See identical proteins and their annotated locations for XP_011514265.1
- Conserved Domains (3) summary
-
- cd00083
Location:227 → 287
- 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:315 → 434
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:6 → 155
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
XM_011515964.3 → XP_011514266.1 transcription factor EC isoform X1
See identical proteins and their annotated locations for XP_011514266.1
- Conserved Domains (3) summary
-
- cd00083
Location:227 → 287
- 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:315 → 434
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:6 → 155
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
XM_047420054.1 → XP_047276010.1 transcription factor EC isoform X3
-
XM_047420050.1 → XP_047276006.1 transcription factor EC isoform X1
-
XM_047420051.1 → XP_047276007.1 transcription factor EC isoform X1
-
XM_047420053.1 → XP_047276009.1 transcription factor EC isoform X3
-
XM_011515965.3 → XP_011514267.1 transcription factor EC isoform X1
See identical proteins and their annotated locations for XP_011514267.1
- Conserved Domains (3) summary
-
- cd00083
Location:227 → 287
- 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:315 → 434
- DUF3371; Domain of unknown function (DUF3371)
- pfam15951
Location:6 → 155
- MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus
-
XM_047420052.1 → XP_047276008.1 transcription factor EC isoform X1
-
XM_047420055.1 → XP_047276011.1 transcription factor EC isoform X4
-
XM_017011875.2 → XP_016867364.1 transcription factor EC isoform X5
- UniProtKB/Swiss-Prot
- B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9
- Conserved Domains (3) summary
-
- cd00083
Location:137 → 197
- 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:225 → 344
- DUF3371; Domain of unknown function (DUF3371)
- cl21462
Location:193 → 224
- bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
-
XM_017011876.3 → XP_016867365.1 transcription factor EC isoform X7
- UniProtKB/TrEMBL
-
Q75KY0
- Conserved Domains (2) summary
-
- cd00083
Location:49 → 109
- 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:137 → 256
- DUF3371; Domain of unknown function (DUF3371)
-
XM_017011878.3 → XP_016867367.1 transcription factor EC isoform X8
- UniProtKB/TrEMBL
-
Q75KY0
-
XM_017011877.2 → XP_016867366.1 transcription factor EC isoform X8
- UniProtKB/TrEMBL
-
Q75KY0
-
XM_047420056.1 → XP_047276012.1 transcription factor EC isoform X6
- UniProtKB/TrEMBL
-
B7Z757
- Related
- ENSP00000417432.1, ENST00000484212.5
RNA
-
XR_007059992.1 RNA Sequence
-
XR_007059993.1 RNA Sequence
Alternate T2T-CHM13v2.0
Genomic
-
NC_060931.1 Alternate T2T-CHM13v2.0
- Range
-
117250129..117474879 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054357619.1 → XP_054213594.1 transcription factor EC isoform X3
-
XM_054357618.1 → XP_054213593.1 transcription factor EC isoform X2
-
XM_054357612.1 → XP_054213587.1 transcription factor EC isoform X1
-
XM_054357615.1 → XP_054213590.1 transcription factor EC isoform X1
-
XM_054357613.1 → XP_054213588.1 transcription factor EC isoform X1
-
XM_054357617.1 → XP_054213592.1 transcription factor EC isoform X1
-
XM_054357620.1 → XP_054213595.1 transcription factor EC isoform X3
-
XM_054357624.1 → XP_054213599.1 transcription factor EC isoform X6
- UniProtKB/TrEMBL
-
B7Z757
-
XM_054357621.1 → XP_054213596.1 transcription factor EC isoform X3
-
XM_054357616.1 → XP_054213591.1 transcription factor EC isoform X1
-
XM_054357614.1 → XP_054213589.1 transcription factor EC isoform X1
-
XM_054357622.1 → XP_054213597.1 transcription factor EC isoform X4
-
XM_054357623.1 → XP_054213598.1 transcription factor EC isoform X5
- UniProtKB/Swiss-Prot
- B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9
-
XM_054357625.1 → XP_054213600.1 transcription factor EC isoform X7
- UniProtKB/TrEMBL
-
Q75KY0
-
XM_054357627.1 → XP_054213602.1 transcription factor EC isoform X8
- UniProtKB/TrEMBL
-
Q75KY0
-
XM_054357626.1 → XP_054213601.1 transcription factor EC isoform X8
- UniProtKB/TrEMBL
-
Q75KY0
RNA
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XR_008487543.1 RNA Sequence
-
XR_008487544.1 RNA Sequence