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_008648.1 RefSeqGene
- Range
- 5001..98545
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_000534.4 → NP_000525.1 PMS1 protein homolog 1 isoform a
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
- Source sequence(s)
-
BC096330, BC096332, BM677668, DC347859
- Consensus CDS
-
CCDS2302.1
- UniProtKB/Swiss-Prot
-
P54277
- Related
- ENSP00000406490, OTTHUMP00000163499, ENST00000441310, OTTHUMT00000255918
- Conserved Domains (4) summary
-
- cd01390
Location:572 – 636
Blast Score: 115
- HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
- cd03485
Location:205 – 338
Blast Score: 414
- MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
- TIGR00585
Location:1 – 318
Blast Score: 886
- mutl; DNA mismatch repair protein MutL
- cl00075
Location:27 – 124
Blast Score: 128
- HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins
-
NM_001128143.1 → NP_001121615.1 PMS1 protein homolog 1 isoform b
Status: REVIEWED
- Description
- Transcript Variant: This variant (2, also known as PMS1 nirs variant 7) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
- Source sequence(s)
-
AB102875, BM677668, DC347859
- Consensus CDS
-
CCDS46474.1
- Related
- ENSP00000387125, OTTHUMP00000205717, ENST00000409823, OTTHUMT00000335283
- Conserved Domains (4) summary
-
- cd01390
Location:533 – 597
Blast Score: 115
- HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
- cd03485
Location:194 – 299
Blast Score: 320
- MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
- TIGR00585
Location:1 – 279
Blast Score: 787
- mutl; DNA mismatch repair protein MutL
- cl00075
Location:27 – 124
Blast Score: 128
- HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins
-
NM_001128144.1 → NP_001121616.1 PMS1 protein homolog 1 isoform c
Status: REVIEWED
- Description
- Transcript Variant: This variant (3, also known as PMS1 nirs variant 2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.
- Source sequence(s)
-
AB102870, BC096330, BM677668, DC347859
- Consensus CDS
-
CCDS46473.1
- UniProtKB/Swiss-Prot
-
P54277
- Related
- ENSP00000401064, OTTHUMP00000205724, ENST00000447232, OTTHUMT00000335290
- Conserved Domains (4) summary
-
- cd01390
Location:572 – 617
Blast Score: 134
- HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
- cd03485
Location:205 – 338
Blast Score: 418
- MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
- TIGR00585
Location:1 – 318
Blast Score: 887
- mutl; DNA mismatch repair protein MutL
- cl00075
Location:27 – 124
Blast Score: 127
- HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins
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_000002.11 Reference GRCh37.p5 Primary Assembly
- Range
- 190648811..190742355
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate HuRef
Genomic
-
AC_000134.1 Alternate HuRef
- Range
- 182508462..182602272
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)