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TSC1 TSC complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 7248, updated on 12-Aug-2022

Summary

Official Symbol
TSC1provided by HGNC
Official Full Name
TSC complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:12362
See related
Ensembl:ENSG00000165699 MIM:605284; AllianceGenome:HGNC:12362
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAM; TSC
Summary
This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]
Expression
Ubiquitous expression in testis (RPKM 9.2), brain (RPKM 8.5) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TSC1 in Genome Data Viewer
Location:
9q34.13
Exon count:
25
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132891349..132945378, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145103162..145156431, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135766736..135820003, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene adenylate kinase 8 Neighboring gene U6 spliceosomal RNA Neighboring gene sperm acrosome associated 9 Neighboring gene microRNA 548aw Neighboring gene growth factor independent 1B transcriptional repressor Neighboring gene ribosomal protein L39 pseudogene 24

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TSC1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Isolated focal cortical dysplasia type II
MedGen: C1846385 OMIM: 607341 GeneReviews: Not available
Compare labs
Lymphangiomyomatosis
MedGen: C0751674 OMIM: 606690 GeneReviews: Not available
Compare labs
Tuberous sclerosis 1
MedGen: C1854465 OMIM: 191100 GeneReviews: Tuberous Sclerosis Complex
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-10-13)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-10-13)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
EBI GWAS Catalog
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0243, MGC86987

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activating protein binding IEA
Inferred from Electronic Annotation
more info
 
enables Hsp70 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables Hsp90 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in activation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in adult locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in associative learning IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to oxygen-glucose deprivation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose import IEA
Inferred from Electronic Annotation
more info
 
involved_in hippocampus development IEA
Inferred from Electronic Annotation
more info
 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
 
involved_in memory T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in myelination IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of ATP-dependent activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of TOR signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of TOR signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell size IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of macroautophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of oxidative stress-induced neuron death IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neural tube closure IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of focal adhesion assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of macroautophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in rRNA export from nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of phosphoprotein phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of translation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to insulin IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synapse organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of TSC1-TSC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of TSC1-TSC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of TSC1-TSC2 complex IPI
Inferred from Physical Interaction
more info
PubMed 
colocalizes_with actin filament IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
part_of chaperone complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hamartin
Names
tuberous sclerosis 1 protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

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

  1. NG_012386.1 RefSeqGene

    Range
    5001..58286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_486

mRNA and Protein(s)

  1. NM_000368.5NP_000359.1  hamartin isoform 1

    See identical proteins and their annotated locations for NP_000359.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF013168, BC070032, D87683, N63914
    Consensus CDS
    CCDS6956.1
    UniProtKB/Swiss-Prot
    Q5VVN5, Q92574
    UniProtKB/TrEMBL
    Q86WV8, X5D9D2
    Related
    ENSP00000298552.3, ENST00000298552.9
    Conserved Domains (2) summary
    COG1196
    Location:751971
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
  2. NM_001162426.2NP_001155898.1  hamartin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AF013168, BC108668, D87683, N63914
    Consensus CDS
    CCDS87703.1
    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    A0A2R8Y5S3, Q32NF0
    Related
    ENSP00000493773.1, ENST00000642617.1
    Conserved Domains (2) summary
    COG1196
    Location:750970
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7718
    Hamartin; Hamartin protein
  3. NM_001162427.2NP_001155899.1  hamartin isoform 4

    See identical proteins and their annotated locations for NP_001155899.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AF013168, AK303030, D87683, N63914
    Consensus CDS
    CCDS55350.1
    UniProtKB/Swiss-Prot
    Q92574
    Related
    ENSP00000496691.1, ENST00000643072.1
    Conserved Domains (4) summary
    pfam04388
    Location:7668
    Hamartin; Hamartin protein
    pfam05837
    Location:812906
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:715881
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:728830
    Snf7; Snf7
  4. NM_001362177.2NP_001349106.1  hamartin isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks a 5' exon which results in the use of a downstream AUG compared to variant 1. The encoded isoform (5) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AL445645, N63914
    Conserved Domains (2) summary
    COG1196
    Location:630850
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:16598
    Hamartin; Hamartin protein
  5. NM_001406592.1NP_001393521.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/Swiss-Prot
    Q5VVN5
    UniProtKB/TrEMBL
    X5D9D2
  6. NM_001406593.1NP_001393522.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/Swiss-Prot
    Q5VVN5
    UniProtKB/TrEMBL
    X5D9D2
  7. NM_001406594.1NP_001393523.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/Swiss-Prot
    Q5VVN5
    UniProtKB/TrEMBL
    X5D9D2
  8. NM_001406595.1NP_001393524.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/Swiss-Prot
    Q5VVN5
    UniProtKB/TrEMBL
    X5D9D2
  9. NM_001406596.1NP_001393525.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/Swiss-Prot
    Q5VVN5
    UniProtKB/TrEMBL
    X5D9D2
  10. NM_001406597.1NP_001393526.1  hamartin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5S3
  11. NM_001406598.1NP_001393527.1  hamartin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5S3
  12. NM_001406599.1NP_001393528.1  hamartin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5S3
  13. NM_001406600.1NP_001393529.1  hamartin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5S3
  14. NM_001406601.1NP_001393530.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5N2
  15. NM_001406602.1NP_001393531.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5N2
  16. NM_001406603.1NP_001393532.1  hamartin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YFV7
  17. NM_001406604.1NP_001393533.1  hamartin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YFV7
  18. NM_001406605.1NP_001393534.1  hamartin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL445645
  19. NM_001406606.1NP_001393535.1  hamartin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL445645
  20. NM_001406607.1NP_001393536.1  hamartin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL445645
  21. NM_001406608.1NP_001393537.1  hamartin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL445645
  22. NM_001406609.1NP_001393538.1  hamartin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL445645
  23. NM_001406610.1NP_001393539.1  hamartin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL445645
  24. NM_001406611.1NP_001393540.1  hamartin isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL445645
  25. NM_001406612.1NP_001393541.1  hamartin isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL445645
  26. NM_001406613.1NP_001393542.1  hamartin isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL445645
  27. NM_001406614.1NP_001393543.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
  28. NM_001406615.1NP_001393544.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
  29. NM_001406616.1NP_001393545.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
  30. NM_001406617.1NP_001393546.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
  31. NM_001406618.1NP_001393547.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
  32. NM_001406619.1NP_001393548.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
  33. NM_001406620.1NP_001393549.1  hamartin isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL445645
  34. NM_001406621.1NP_001393550.1  hamartin isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL445645
  35. NM_001406622.1NP_001393551.1  hamartin isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL445645
  36. NM_001406623.1NP_001393552.1  hamartin isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL445645
  37. NM_001406624.1NP_001393553.1  hamartin isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL445645
  38. NM_001406625.1NP_001393554.1  hamartin isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL445645
  39. NM_001406626.1NP_001393555.1  hamartin isoform 14

    Status: REVIEWED

    Source sequence(s)
    AL445645
  40. NM_001406627.1NP_001393556.1  hamartin isoform 15

    Status: REVIEWED

    Source sequence(s)
    AL445645
  41. NM_001406628.1NP_001393557.1  hamartin isoform 15

    Status: REVIEWED

    Source sequence(s)
    AL445645
  42. NM_001406629.1NP_001393558.1  hamartin isoform 16

    Status: REVIEWED

    Source sequence(s)
    AL445645
  43. NM_001406630.1NP_001393559.1  hamartin isoform 16

    Status: REVIEWED

    Source sequence(s)
    AL445645

RNA

  1. NR_176214.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645
  2. NR_176215.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645
  3. NR_176216.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645
  4. NR_176217.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645
  5. NR_176218.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    132891349..132945378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518979.3XP_011517281.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_011517281.1

    UniProtKB/Swiss-Prot
    Q5VVN5, Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Conserved Domains (2) summary
    COG1196
    Location:751971
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
  2. XM_047423837.1XP_047279793.1  hamartin isoform X4

  3. XM_017015098.2XP_016870587.1  hamartin isoform X2

    Related
    ENSP00000494682.1, ENST00000644097.1
    Conserved Domains (2) summary
    COG1196
    Location:750970
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7718
    Hamartin; Hamartin protein
  4. XM_047423834.1XP_047279790.1  hamartin isoform X3

  5. XM_005272211.2XP_005272268.1  hamartin isoform X1

    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Related
    ENSP00000496263.1, ENST00000646625.1
    Conserved Domains (2) summary
    COG1196
    Location:751971
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
  6. XM_047423832.1XP_047279788.1  hamartin isoform X2

  7. XM_017015097.2XP_016870586.1  hamartin isoform X1

    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Conserved Domains (2) summary
    COG1196
    Location:751971
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
  8. XM_047423830.1XP_047279786.1  hamartin isoform X2

  9. XM_047423835.1XP_047279791.1  hamartin isoform X3

  10. XM_006717271.2XP_006717334.1  hamartin isoform X1

    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Related
    ENSP00000495158.1, ENST00000643875.1
    Conserved Domains (2) summary
    COG1196
    Location:751971
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
  11. XM_047423836.1XP_047279792.1  hamartin isoform X4

  12. XM_047423833.1XP_047279789.1  hamartin isoform X3

  13. XM_047423831.1XP_047279787.1  hamartin isoform X2

  14. XM_017015096.2XP_016870585.1  hamartin isoform X1

    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Conserved Domains (2) summary
    COG1196
    Location:751971
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7719
    Hamartin; Hamartin protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145103162..145156431 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001008567.1: Suppressed sequence

    Description
    NM_001008567.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.