| Gene Symbol |
TMEM43
|
| Entrez Gene |
79188
|
| Alt Symbol |
ARVC5, ARVD5, EDMD7, LUMA
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
transmembrane protein 43
|
| Other Description |
-
|
| Swissprots |
Q9H076 Q96F19 Q96A63 Q7L4N5 Q96JX0 Q9BTV4 Q8NC30
|
| Accessions |
EAW64184 EAW64185 EAW64186 EAW64187 Q9BTV4 AF086408 AK026869 AK027466 BAB55131 AK027757 BAB55348 AK027827 BAB55396 AK027877 BAB55425 AK074073 BAB84899 AK075010 BAC11350 AK225589 AL136916 CAB66850 AM393160 CAL38038 AY358625 AAQ88988 BC003125 AAH03125 BC008054 AAH08054 BC011719 AAH11719 DA259919 XM_011534109 XP_011532411 NM_024334 NP_077310
|
| Function |
May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Endoplasmic reticulum {ECO:0000250}. Nucleus inner membrane; Multi-pass membrane protein. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B- lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. {ECO:0000269|PubMed:18230648}.
|