Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
lung | 100% | 3266.56 | 578 / 578 | 100% | 16.02 | 1154 / 1155 |
brain | 100% | 4233.12 | 2642 / 2642 | 100% | 27.77 | 704 / 705 |
ovary | 100% | 3562.08 | 180 / 180 | 100% | 15.93 | 428 / 430 |
pancreas | 100% | 2435.36 | 328 / 328 | 99% | 18.76 | 177 / 178 |
thymus | 100% | 4249.91 | 653 / 653 | 99% | 43.13 | 601 / 605 |
prostate | 100% | 2208.87 | 245 / 245 | 99% | 17.76 | 498 / 502 |
breast | 100% | 3714.17 | 459 / 459 | 99% | 18.91 | 1108 / 1118 |
esophagus | 100% | 2798.32 | 1445 / 1445 | 99% | 13.31 | 181 / 183 |
adrenal gland | 100% | 5440.68 | 258 / 258 | 98% | 31.32 | 226 / 230 |
kidney | 100% | 3591.40 | 89 / 89 | 98% | 29.93 | 885 / 901 |
liver | 100% | 2485.99 | 226 / 226 | 98% | 15.57 | 398 / 406 |
bladder | 100% | 3342.24 | 21 / 21 | 98% | 15.32 | 493 / 504 |
stomach | 100% | 2592.55 | 359 / 359 | 98% | 15.74 | 279 / 286 |
intestine | 100% | 2942.67 | 966 / 966 | 98% | 15.20 | 514 / 527 |
uterus | 100% | 2855.84 | 170 / 170 | 97% | 11.95 | 445 / 459 |
skin | 100% | 2765.06 | 1808 / 1809 | 91% | 11.64 | 430 / 472 |
blood vessel | 100% | 3396.91 | 1335 / 1335 | 0% | 0 | 0 / 0 |
spleen | 100% | 2532.25 | 241 / 241 | 0% | 0 | 0 / 0 |
ureter | 0% | 0 | 0 / 0 | 100% | 4.15 | 1 / 1 |
adipose | 100% | 3623.09 | 1203 / 1204 | 0% | 0 | 0 / 0 |
muscle | 100% | 1882.32 | 801 / 803 | 0% | 0 | 0 / 0 |
heart | 98% | 2065.57 | 845 / 861 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 97% | 10.07 | 28 / 29 |
tonsil | 0% | 0 | 0 / 0 | 96% | 11.14 | 43 / 45 |
peripheral blood | 91% | 2350.60 | 850 / 929 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 81% | 9.75 | 65 / 80 |
abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
GO_0072583 | Biological process | clathrin-dependent endocytosis |
GO_0061462 | Biological process | protein localization to lysosome |
GO_0038016 | Biological process | insulin receptor internalization |
GO_0007369 | Biological process | gastrulation |
GO_0043231 | Cellular component | intracellular membrane-bounded organelle |
GO_0030136 | Cellular component | clathrin-coated vesicle |
GO_0005886 | Cellular component | plasma membrane |
GO_0005765 | Cellular component | lysosomal membrane |
GO_0016020 | Cellular component | membrane |
GO_0005789 | Cellular component | endoplasmic reticulum membrane |
GO_0045334 | Cellular component | clathrin-coated endocytic vesicle |
GO_0032050 | Molecular function | clathrin heavy chain binding |
GO_0031419 | Molecular function | cobalamin binding |
GO_0005158 | Molecular function | insulin receptor binding |
GO_0035612 | Molecular function | AP-2 adaptor complex binding |
GO_0005515 | Molecular function | protein binding |
GO_0140318 | Molecular function | protein transporter activity |
Gene name | LMBRD1 |
Protein name | Lysosomal cobalamin transport escort protein LMBD1 (LMBD1) (HDAg-L-interacting protein NESI) (LMBR1 domain-containing protein 1) (Nuclear export signal-interacting protein) Lysosomal cobalamin transport escort protein LMBD1 (LMBR1 domain-containing protein 1) LMBR1 domain containing 1 |
Synonyms | CD001 MSTP044 C6orf209 BM-021 NESI |
Description | FUNCTION: Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors . Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome . Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane . Acts as an adapter protein which plays an important role in mediating and regulating the internalization of the insulin receptor (INSR) (By similarity). Involved in clathrin-mediated endocytosis of INSR via its interaction with adapter protein complex 2 (By similarity). Essential for the initiation of gastrulation and early formation of mesoderm structures during embryogenesis (By similarity). .; FUNCTION: [Isoform 3]: (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV). . |
Accessions | A0A3B3ITR7 A0A3B3IU68 ENST00000648303.1 A0A3B3IRL1 ENST00000649054.1 ENST00000649918.1 [Q9NUN5-3] A0A494C126 ENST00000649970.1 ENST00000650473.1 ENST00000648635.1 A0A3F2YP66 ENST00000649028.1 [Q9NUN5-3] A0A3B3IU99 A0A3B3IS10 ENST00000649934.3 [Q9NUN5-1] ENST00000649795.1 ENST00000650124.1 A0A3B3IRS7 ENST00000472827.2 A0A3B3ITM4 ENST00000649679.1 [Q9NUN5-3] ENST00000370570.6 [Q9NUN5-3] ENST00000648743.1 [Q9NUN5-3] ENST00000649166.1 ENST00000647964.1 [Q9NUN5-3] A0A3B3IRN0 ENST00000649673.1 A0A3B3ITP2 ENST00000647650.1 ENST00000647669.1 A0A3B3IS99 ENST00000649057.1 ENST00000651675.1 A0A3B3IU91 ENST00000649011.1 ENST00000648394.1 [Q9NUN5-3] ENST00000648168.1 [Q9NUN5-3] ENST00000650035.1 [Q9NUN5-3] ENST00000650107.1 [Q9NUN5-3] A0A3B3IT65 ENST00000649958.1 A0A3B3IT31 Q9NUN5 |