C0NY51

PR
Gene name
MDM34
Protein name
Mitochondrial distribution and morphology protein 34
Names
Species
Ajellomyces capsulatus (strain G186AR / H82 / ATCC MYA-2454 / RMSCC 2432) (Darling's disease fungus) (Histoplasma capsulatum)
KEGG Pathway
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

177-254 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for C0NY51

Entry ID Method Resolution Chain Position Source
AF-C0NY51-F1 Predicted AlphaFoldDB

No variants for C0NY51

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for C0NY51

1 associated diseases with C0NY51

[MIM: 617241]: Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS)

An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features. {ECO:0000269|PubMed:27427983}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features. {ECO:0000269|PubMed:27427983}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for C0NY51

Type Name Position InterPro Accession
domain MAGE homology domain 85 - 285 IPR002190

Functions

Description
EC Number
Subcellular Localization
  • Mitochondrion outer membrane ; Multi-pass membrane protein
  • The ERMES/MDM complex localizes to a few discrete foci (around 10 per single cell), that represent mitochondria-endoplasmic reticulum junctions
  • These foci are often found next to mtDNA nucleoids
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
ERMES complex A protein complex that links the endoplasmic reticulum with mitochondria and may have a role in promoting exchange of calcium and phospholipids between the two organelles.
integral component of mitochondrial outer membrane The component of the mitochondrial outer membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name Definition
lipid binding Binding to a lipid.

2 GO annotations of biological process

Name Definition
lipid transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
mitochondrial genome maintenance The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MAFNFNWSPL MADAGFYTRA QELLTAALNK SPKPPIIVDD IVVTELNLGS NPPELEILEI
70 80 90 100 110 120
GDLAEDRFRG IFKMSYAGDA FLTLKTCVQA NPLNTYLLTR HPFASPQPLA AATGLTIPLQ
130 140 150 160 170 180
ITLSDIKLSG FVILVFSKQK GITVVFRNDP LESLKVSSTF DSIPFVRDYL QKEIEGQLRI
190 200 210 220 230 240
LFMDELPAII HRLSLRLWGT EYSELETTSA QVTNPPLEGP GLDPLLNPPE DPVDASGNVL
250 260 270 280 290 300
STSEIASLSL DSGVEMHSLF SRKNVLRLAA LTDSQRTLSL FTPSIQEVVF RAWTGLMEQA
310 320 330 340 350 360
DGPSGLVSPM SPPLSRTHSH VATSSLSLQD AASLASSSHS RLSLPSTGFS GYGLSMGAGR
370 380 390 400 410 420
HSKAHARKRK KRVVDLRRRP KNTDDMESVS GESEFTESTS AASVFSGSTI PEENNDDPVT
430 440 450 460 470 480
PPGSPPRTIR QPTLCDRIVA RNGAERNARR GIPAEFGHDI PASRTTLPTA NDIARMLATT
490 500 510 520 530 540
SSLQQQLHPA NSKSLPPQVP PQEPALRPSL TSNSPYPIEK PNASNYTSSG DSQQQQQQQQ
550 560 570 580 590 600
QHQTHLPSSL IMEAAQSGGI LEQAWMMKMA SEIARRIQDE KMGGEDAAGS SNNKNDNKNN
610 620
NTGGFWEQSL MRSHTPPPAY RH