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| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C1414612
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1414612
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|---|---|
| Preferred Name | four and a half LIM domains 1 |
| Definitions |
The FHL1 gene provides instructions for making three versions (isoforms) of a protein that plays an important role in muscles used for movement (skeletal muscles) and in the heart (cardiac muscle). The full-length isoform is known as FHL1A, or sometimes just FHL1. The other two isoforms, which are shorter, are called FHL1B and FHL1C.~FHL1A is the best-studied of the three FHL1 isoforms. Studies suggest that interactions between FHL1A and other proteins play a critical role in the assembly of sarcomeres, which are structures within muscle cells that are necessary for muscle tensing (contraction). These interactions also appear to be involved in chemical signaling within muscle cells, maintaining the structure of these cells, and influencing muscle growth and size.~Less is known about the FHL1B and FHL1C isoforms. FHL1B moves in and out of the nucleus and is also part of the nuclear envelope, which is a structure that surrounds the nucleus in cells. The protein's function in this structure is unknown. FHL1B and FHL1C are suspected to play roles in the normal structure and function of skeletal and cardiac muscles.
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| Synonyms |
skeletal muscle LIM-protein 1
MGC111107
KYO-T
FHL1A
LIM protein SLIMMER
XMPMA
FHL1
bA535K18.1
SLIM-1
FHL-1
four-and-a-half Lin11, Isl-1 and Mec-3 domains 1
SLIM1
FLH1A
SLIM
KYOT
RBMX1A
FHL1B
RBMX1B
SLIMMER
See more
See less
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The FHL1 gene provides instructions for making three versions (isoforms) of a protein that plays an important role in muscles used for movement (skeletal muscles) and in the heart (cardiac muscle). The full-length isoform is known as FHL1A, or sometimes just FHL1. The other two isoforms, which are shorter, are called FHL1B and FHL1C.~FHL1A is the best-studied of the three FHL1 isoforms. Studies suggest that interactions between FHL1A and other proteins play a critical role in the assembly of sarcomeres, which are structures within muscle cells that are necessary for muscle tensing (contraction). These interactions also appear to be involved in chemical signaling within muscle cells, maintaining the structure of these cells, and influencing muscle growth and size.~Less is known about the FHL1B and FHL1C isoforms. FHL1B moves in and out of the nucleus and is also part of the nuclear envelope, which is a structure that surrounds the nucleus in cells. The protein's function in this structure is unknown. FHL1B and FHL1C are suspected to play roles in the normal structure and function of skeletal and cardiac muscles. |
|---|---|
| altLabel |
skeletal muscle LIM-protein 1
MGC111107
KYO-T
FHL1A
LIM protein SLIMMER
XMPMA
FHL1
bA535K18.1
SLIM-1
FHL-1
four-and-a-half Lin11, Isl-1 and Mec-3 domains 1
SLIM1
FLH1A
SLIM
KYOT
RBMX1A
FHL1B
RBMX1B
SLIMMER
See more
See less
|
| prefLabel | four and a half LIM domains 1
|
| DB XR ID | NCBI Gene:2273~OMIM:300163~OMIM:300695~OMIM:300696~OMIM:300717~OMIM:300718
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| Has associated condition | |
| type | |
| tui | T028
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| notation | C1414612
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| Semantic type UMLS property | |
| cui | C1414612
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