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

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: mouse all
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Genomic context

Location:: 9q34.13

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (132891349..132945378, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145103162..145157190, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (135766736..135820003, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.
Title: Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.
miR-27a-3p promotes inflammatory response in infectious endophthalmitis via targeting TSC1.
Title: miR-27a-3p promotes inflammatory response in infectious endophthalmitis via targeting TSC1.
The role of TSC1 and TSC2 proteins in neuronal axons.
Title: The role of TSC1 and TSC2 proteins in neuronal axons.
CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling.
Title: CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling.
Tuberous sclerosis complex-1 (TSC1) contributes to selective neuronal vulnerability in Alzheimer's disease.
Title: Tuberous sclerosis complex-1 (TSC1) contributes to selective neuronal vulnerability in Alzheimer's disease.
TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases.
Title: TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases.
TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : Several Distinct Entities or a Tumor Family?
Title: TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : Several Distinct Entities or a Tumor Family?
Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.
Title: Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.
Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.
Title: Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.
Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non-small cell lung cancer.
Title: Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non-small cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (212)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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	not available
Lymphangiomyomatosis MedGen: C0751674 OMIM: 606690 GeneReviews: Not available	not available
Tuberous sclerosis 1 MedGen: C1854465 OMIM: 191100 GeneReviews: Tuberous Sclerosis Complex	not available

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 EBI GWAS CatalogPubMed
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-144586 (e-PCR)
- UniSTS:172296

D9S1916 (e-PCR)
- UniSTS:54817

PMC18172P1 (e-PCR)
- UniSTS:271675

STS-H11389 (e-PCR)
- UniSTS:22852

RH35815 (e-PCR)
- UniSTS:22853

D9S2005 (e-PCR)
- UniSTS:70245

RH98742 (e-PCR)
- UniSTS:88268

STS-D87683 (e-PCR)
- UniSTS:27642

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IDA Inferred from Direct Assay more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in D-glucose import	IEA Inferred from Electronic Annotation more info
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 decreased oxygen levels	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebral cortex development	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 TOR signaling	IBA Inferred from Biological aspect of Ancestor more info
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 TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
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 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 potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in protein folding	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 regulation of cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
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 ribosomal subunit export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synapse organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of TSC1-TSC2 complex	EXP Inferred from Experiment more info	PubMed
part_of TSC1-TSC2 complex	IBA Inferred from Biological aspect of Ancestor more info
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
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 lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in lipid droplet	IDA Inferred from Direct Assay more info
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
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 folding chaperone complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: hamartin

Names: tuberous sclerosis 1 protein

NCBI Reference Sequences (RefSeq)

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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

NG_012386.1 RefSeqGene

Range

5001..58286

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_486

mRNA and Protein(s)

NM_000368.5 → NP_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

B7Z897, Q5VVN5, Q92574

UniProtKB/TrEMBL

A0A2R8YGX7, X5D9D2

Related

ENSP00000298552.3, ENST00000298552.9

Conserved Domains (2) summary

COG1196
Location:751 → 971

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:7 → 719

Hamartin; Hamartin protein
NM_001162426.2 → NP_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/TrEMBL

A0A2R8Y5S3, A0A2R8YGL0, A0A2R8YGX7

Related

ENSP00000493773.1, ENST00000642617.1

Conserved Domains (2) summary

COG1196
Location:750 → 970

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:7 → 718

Hamartin; Hamartin protein
NM_001162427.2 → NP_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/TrEMBL

A0A2R8YGX7

Related

ENSP00000496691.1, ENST00000643072.1

Conserved Domains (4) summary

pfam04388
Location:7 → 668

Hamartin; Hamartin protein

pfam05837
Location:812 → 906

CENP-H; Centromere protein H (CENP-H)

pfam14988
Location:715 → 881

DUF4515; Domain of unknown function (DUF4515)

cl21588
Location:728 → 830

Snf7; Snf7
NM_001362177.2 → NP_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

UniProtKB/TrEMBL

A0A2R8Y5M3, A0A2R8YGX7

Conserved Domains (2) summary

COG1196
Location:630 → 850

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:16 → 598

Hamartin; Hamartin protein
NM_001406592.1 → NP_001393521.1 hamartin isoform 1

Status: REVIEWED

Source sequence(s)

AL445645

Consensus CDS

CCDS6956.1

UniProtKB/Swiss-Prot

B7Z897, Q5VVN5, Q92574

UniProtKB/TrEMBL

X5D9D2

Related

ENSP00000496263.1, ENST00000646625.1
NM_001406593.1 → NP_001393522.1 hamartin isoform 1

Status: REVIEWED

Source sequence(s)

AL445645

Consensus CDS

CCDS6956.1

UniProtKB/Swiss-Prot

B7Z897, Q5VVN5, Q92574

UniProtKB/TrEMBL

X5D9D2

Related

ENSP00000495158.1, ENST00000643875.1
NM_001406594.1 → NP_001393523.1 hamartin isoform 1

Status: REVIEWED

Source sequence(s)

AL445645

Consensus CDS

CCDS6956.1

UniProtKB/Swiss-Prot

B7Z897, Q5VVN5, Q92574

UniProtKB/TrEMBL

X5D9D2

Related

ENSP00000495533.2, ENST00000490179.4
NM_001406595.1 → NP_001393524.1 hamartin isoform 1

Status: REVIEWED

Source sequence(s)

AL445645

Consensus CDS

CCDS6956.1

UniProtKB/Swiss-Prot

B7Z897, Q5VVN5, Q92574

UniProtKB/TrEMBL

X5D9D2
NM_001406596.1 → NP_001393525.1 hamartin isoform 1

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/Swiss-Prot

B7Z897, Q5VVN5, Q92574

UniProtKB/TrEMBL

X5D9D2
NM_001406597.1 → NP_001393526.1 hamartin isoform 3

Status: REVIEWED

Source sequence(s)

AL445645

Consensus CDS

CCDS87703.1

UniProtKB/TrEMBL

A0A2R8Y5S3, A0A2R8YGL0

Related

ENSP00000494682.1, ENST00000644097.1
NM_001406598.1 → NP_001393527.1 hamartin isoform 3

Status: REVIEWED

Source sequence(s)

AL445645

Consensus CDS

CCDS87703.1

UniProtKB/TrEMBL

A0A2R8Y5S3, A0A2R8YGL0
NM_001406599.1 → NP_001393528.1 hamartin isoform 3

Status: REVIEWED

Source sequence(s)

AL445645

Consensus CDS

CCDS87703.1

UniProtKB/TrEMBL

A0A2R8Y5S3, A0A2R8YGL0
NM_001406600.1 → NP_001393529.1 hamartin isoform 3

Status: REVIEWED

Source sequence(s)

AL445645

Consensus CDS

CCDS87703.1

UniProtKB/TrEMBL

A0A2R8Y5S3, A0A2R8YGL0
NM_001406601.1 → NP_001393530.1 hamartin isoform 5

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y5N2

Related

ENSP00000494685.1, ENST00000643583.1
NM_001406602.1 → NP_001393531.1 hamartin isoform 5

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y5N2
NM_001406603.1 → NP_001393532.1 hamartin isoform 6

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8YFV7
NM_001406604.1 → NP_001393533.1 hamartin isoform 6

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8YFV7

Related

ENSP00000496772.1, ENST00000642627.1
NM_001406605.1 → NP_001393534.1 hamartin isoform 7

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y6S1

Related

ENSP00000495428.2, ENST00000644184.2
NM_001406606.1 → NP_001393535.1 hamartin isoform 7

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y6S1
NM_001406607.1 → NP_001393536.1 hamartin isoform 7

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y6S1
NM_001406608.1 → NP_001393537.1 hamartin isoform 8

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406609.1 → NP_001393538.1 hamartin isoform 8

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406610.1 → NP_001393539.1 hamartin isoform 4

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406611.1 → NP_001393540.1 hamartin isoform 9

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8YD74
NM_001406612.1 → NP_001393541.1 hamartin isoform 9

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8YD74

Related

ENSP00000493639.2, ENST00000645129.2
NM_001406613.1 → NP_001393542.1 hamartin isoform 10

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406614.1 → NP_001393543.1 hamartin isoform 5

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y5M3
NM_001406615.1 → NP_001393544.1 hamartin isoform 5

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y5M3
NM_001406616.1 → NP_001393545.1 hamartin isoform 5

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y5M3
NM_001406617.1 → NP_001393546.1 hamartin isoform 5

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y5M3
NM_001406618.1 → NP_001393547.1 hamartin isoform 5

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y5M3

Related

ENSP00000494916.2, ENST00000643691.2
NM_001406619.1 → NP_001393548.1 hamartin isoform 5

Status: REVIEWED

Source sequence(s)

AL445645

UniProtKB/TrEMBL

A0A2R8Y5M3
NM_001406620.1 → NP_001393549.1 hamartin isoform 11

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406621.1 → NP_001393550.1 hamartin isoform 11

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406622.1 → NP_001393551.1 hamartin isoform 11

Status: REVIEWED

Source sequence(s)

AL445645

Related

ENST00000645904.2
NM_001406623.1 → NP_001393552.1 hamartin isoform 11

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406624.1 → NP_001393553.1 hamartin isoform 12

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406625.1 → NP_001393554.1 hamartin isoform 13

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406626.1 → NP_001393555.1 hamartin isoform 14

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406627.1 → NP_001393556.1 hamartin isoform 15

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406628.1 → NP_001393557.1 hamartin isoform 15

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406629.1 → NP_001393558.1 hamartin isoform 16

Status: REVIEWED

Source sequence(s)

AL445645
NM_001406630.1 → NP_001393559.1 hamartin isoform 16

Status: REVIEWED

Source sequence(s)

AL445645

RNA

NR_176214.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL445645

Related

ENST00000643625.2
NR_176215.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL445645
NR_176216.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL445645
NR_176217.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL445645
NR_176218.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL445645

Related

ENST00000642261.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

132891349..132945378 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011518979.3 → XP_011517281.1 hamartin isoform X1

See identical proteins and their annotated locations for XP_011517281.1

UniProtKB/Swiss-Prot

B7Z897, Q5VVN5, Q92574

UniProtKB/TrEMBL

A0A2R8YGX7, X5D9D2

Related

ENSP00000495830.2, ENST00000646440.2

Conserved Domains (2) summary

COG1196
Location:751 → 971

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:7 → 719

Hamartin; Hamartin protein

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

145103162..145157190 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363718.1 → XP_054219693.1 hamartin isoform X1

UniProtKB/Swiss-Prot

B7Z897, Q5VVN5, Q92574

UniProtKB/TrEMBL

X5D9D2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.