Q99LS1

PR
Gene name
Mmadhc
Protein name
Cobalamin trafficking protein CblD
Names
CblD, Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:109129
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-131 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

2 structures for Q99LS1

Entry ID Method Resolution Chain Position Source
5A4R X-ray 225 A A 129-296 PDB
AF-Q99LS1-F1 Predicted AlphaFoldDB

7 variants for Q99LS1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3391517718 7 N>Y No EVA
rs1132699414 146 V>F No EVA
rs3388552060 194 E>G No EVA
rs3388551299 197 R>G No EVA
rs3391561557 204 F>H No EVA
rs3391442148 204 F>Y No EVA
rs3391579579 217 A>P No EVA

No associated diseases with Q99LS1

2 regional properties for Q99LS1

Type Name Position InterPro Accession
conserved_site Ribosomal protein L27, conserved site 53 - 67 IPR018261
domain Ribosomal L27 protein, C-terminal 128 - 368 IPR041244

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Mitochondrion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
cobalamin metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9H3L0 MMADHC Cobalamin trafficking protein CblD Homo sapiens (Human) PR
Q6AYQ6 Mmadhc Cobalamin trafficking protein CblD Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MAHVLCNRAR LVSYLPGFCS LVKRVINPRA FSTAGSSGSD ESHVATAPPD ICSRTVWPDE
70 80 90 100 110 120
TMGPFGPQDQ RFQLPGNIGF DCHLNGTASQ KKSQAHKTLP DVLAEPLSTE RHEFVMAQYV
130 140 150 160 170 180
NEFQDSDAPV EQEINSAETY FESAKVECAI QTCPELLRRD FESLFPEVAN SKLMILTVTQ
190 200 210 220 230 240
KTENDMTVWS EEVEVEREVL LEKFISGAKE ICYALRAEGY WADFIDPSSG VAFFGPYTNN
250 260 270 280 290
TLFETDERYR HLGFSVDDLG CCKVIRHSLW GTHVVVGSIF TNATADSSIM RKLSGN