Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q74ZL1

Entry ID Method Resolution Chain Position Source
AF-Q74ZL1-F1 Predicted AlphaFoldDB

No variants for Q74ZL1

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for Q74ZL1

1 associated diseases with Q74ZL1

[MIM: 616503]: Lethal congenital contracture syndrome 9 (LCCS9)

A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269|PubMed:26004201}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269|PubMed:26004201}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q74ZL1

Type Name Position InterPro Accession
conserved_site Aminoacyl-tRNA synthetase, class I, conserved site 46 - 56 IPR001412

Functions

Description
EC Number 2.7.4.3 Phosphotransferases with a phosphate group as acceptor
Subcellular Localization
  • Cytoplasm, cytosol
  • Mitochondrion intermembrane space
  • Predominantly mitochondrial
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 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.
mitochondrial intermembrane space The region between the inner and outer lipid bilayers of the mitochondrial envelope.
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.

2 GO annotations of molecular function

Name Definition
adenylate kinase activity Catalysis of the reaction: ATP + AMP = 2 ADP.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.

5 GO annotations of biological process

Name Definition
ADP biosynthetic process The chemical reactions and pathways resulting in the formation of ADP, adenosine 5'-diphosphate.
AMP metabolic process The chemical reactions and pathways involving AMP, adenosine monophosphate.
ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator.
DNA replication initiation The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MSCWTYLGRA RGPRASAPTA RRFFANFFND LIVAVSSTVG ALKTSQQTPL KMSQDMSHVP
70 80 90 100 110 120
EAIRMVLIGP PGAGKGTQAP KLKEKFCVCH LATGDMLRSQ VAKQTALGVQ AKKIMDQGGL
130 140 150 160 170 180
VSDEIMVNMI KDELRSNPEC ANGFILDGFP RTIPQAQKLD EMLVAQGKPL DRAVELKIDD
190 200 210 220 230 240
ELLVARITGR LVHPASGRSY HKLFNPPKVA MTDDVTGDPL VQRSDDNADA LKKRLDAYHA
250 260 270
QTEPIVDFYK KTGIWAGVDA SQPPKTVWSD ILKALGK